Molecular Genetics — Flashcards

Molecular Genetics US Medical PG Flashcards - Medical Study Cards

Master Molecular Genetics with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.

Molecular Genetics Flashcard Deck - 829 Cards

Flashcard 1: What triplet is associated with Huntington's disease?

Answer: CAG mnemonic: X-Girlfriend's First Aid Helped Ace My Test

Flashcard 2: What triplet is associated with Fragile X syndrome?

Answer: CGG mnemonic: X-Girlfriend's First Aid Helped Ace My Test

Flashcard 3: What triplet is associated with myotonic dystrophy?

Answer: CTG mnemonic: X-Girlfriend's First Aid Helped Ace My Test

Flashcard 4: Uniparental isodisomy indicates an error in what process?

Answer: meoisis II or postzygotic duplication

Flashcard 5: Southwestern

Answer: DNA-binding proteins

Extra: labeled oligonucleotide

Flashcard 6: Southern

Answer: DNA

Extra: complementary labeled DNA

Flashcard 7: Explain the process for a molecular blot. (any type)

Answer: 1. sample is electrophoresed on gel 2. sample transfered to filter paper 3. sample exposed to labeled probe; probe binds sample 4. banding pattern visualized with probe

Flashcard 8: How does an indirect enzyme-linked immunosorbent assay (ELISA) work?

Answer: 1. Patient's blood sample washed over a fixed antigen. 2. Antigen field is washed with anti-human antibody linked to a color-generating enzyme. 2. Any antigen-antibody-antibody-enzyme complex produces color change.

Flashcard 9: What occurs during the exocytosis step of collagen synthesis?

Answer: procollagen triple helix is extruded into extracellular space

Flashcard 10: List the steps of PCR.

Answer: 1. Denaturation 2. Annealing 3. Elongation

Flashcard 11: What occurs during the denaturation step of PCR?

Answer: DNA is heated until the strands separate

Flashcard 12: What occurs during the annealing step of PCR?

Answer: as the denatured DNA is cooled, primers anneal to complementary target sequences

Flashcard 13: What occurs during the elongation step of PCR?

Answer: a heat-stable DNA polymerase replicates the DNA downstream of each primer

Flashcard 14: What are the assumptions of Hardy-Weinberg equilibrium?

Answer: 1. no mutation 2. no selection 3. no migration 4. random mating

Flashcard 15: mitochondrial

Answer: usually no, and in fact may transmit to every single child, but transmission may be obscured by low penetrance/variable expressivity

Extra: highly variabledefect in oxidative phosphorylationhighly variablenoyes; only transmitted through mother

Flashcard 16: cloning (lab technique)

Answer: production of self-perpetuating recombinant DNA

Flashcard 17: What are the steps of cloning eukaryotic DNA into a prokaryotic organism?

Answer: 1. Isolate mRNA from gene of interest. 2. Reverse transcribe mRNA into cDNA (no introns). 3. Insert cDNA into plasmid along with selectable gene (usually resistance gene). 4. Induce plasmid uptake by bacteria. 5. Use resistance gene to select for bacteria carrying cloned gene of interest.

Flashcard 18: What is RNA interference (RNAi) used for?

Answer: inducibly and reversibly silence expression of a target gene

Flashcard 19: Explain the steps of RNA interference (RNAi).

Answer: 1. dsRNA complementary to mRNA of interest is transfected into human cell 2. Dicer enzyme chops up dsRNA into fragments 3. dsRNA fragments direct RISC complex to chop up endogenous complementary mRNA

Flashcard 20: What is the Cre-lox system used for?

Answer: inducibly manipulate gene expression at specific timepoints; most useful for turning on/off genes fatal during development for study at a later developmental stage

Flashcard 21: What is the trigger mechanism for the Cre-lox system?

Answer: antibiotic-controlled promoter

Flashcard 22: codominance (genetics)

Answer: both alleles contribute to the phenotype of the heterozygote

Flashcard 23: variable expressivity (genetics)

Answer: phenotype varies among individuals with same genotype (graded concept vs incomplete penetrance which is binary)

Flashcard 24: What are some of the most powerful and unique uses for microarrays?

Answer: gene expression profile (mRNA), SNP detection (usually DNA)

Flashcard 25: How does a microarray work?

Answer: 1. Labeled nucleic acid probes are arranged in a grid. 2. Sample washed over chip and complementary sequences hybridize. 3. Photoscanner detects relative levels of hybridization.

Flashcard 26: incomplete penetrance (genetics)

Answer: not all individuals with the mutant genotype manifest mutant phenotype (a binary concept vs variable expressivity which is graded)

Flashcard 27: pleiotropy (genetics)

Answer: one gene contributes to multiple phenotypic effects

Flashcard 28: loss of heterozygosity (genetics)

Answer: the event which causes a heterozygote to become a homozygote for the mutated allele

Flashcard 29: dominant negative mutation (genetics)

Answer: mutation that not only loses its original function but inhibits the function of the remaining wild-type allele

Flashcard 30: linkage disequilibrium (genetics)

Answer: tendency for certain alleles at linked loci to be inherited together at a rate above the expected rate

Flashcard 31: linkage (genetics)

Answer: tendency for certain alleles to be inherited together instead of independently; usually related to proximity on a chromosome

Flashcard 32: mosiacism (genetics)

Answer: condition wherein different cells in the same body carry different genes

Flashcard 33: locus heterogeneity (genetics)

Answer: a characteristic wherein mutations at different loci produce the same phenotype (e.g. discrete genes involved in the same pathway)

Flashcard 34: heteroplasmy (genetics)

Answer: presence of both normal and mutated mitochondrial DNA (mtDNA) within a cell or individual; explains incomplete penetrance/variablility expressivity of mitochondrial diseases

Flashcard 35: uniparental disomy (genetics)

Answer: offspring with full chromosomal complement, but 2 copies of a given chromosome from one parent and no copies from the other

Flashcard 36: Uniparental heterodisomy indicates an error in what process?

Answer: meiosis I

Flashcard 37: What is the function of the Golgi apparatus?

Answer: distribution center for proteins and lipids from ER to vesicles and plasma membrane

Flashcard 38: What three classes of protein control the cell cycle?

Answer: cyclins, CDKs, tumor suppressors

Flashcard 39: What protein can be attached to other proteins to flag them for degradation?

Answer: ubiquitin

Flashcard 40: Where does the glycosylation step of collagen synthesis occur?

Answer: ER

Flashcard 41: Which molecular motor protein travels anterograde toward the + end of the microtubule?

Answer: Kinesin mnemonic: Dyn' to get home.

Flashcard 42: What is the function of molecular motor proteins?

Answer: Transport cellular cargo (usually vesicles) along microtubules

Flashcard 43: What are microtubules composed of?

Answer: polymerized heterodimers of α- and β-tubulin

Flashcard 44: What enzyme converts ribonucleotides to deoxyribonucleotides?

Answer: ribonucleotide reductase

Flashcard 45: Which are synthesized first, robonucleotides or deoxyribonucleotides?

Answer: Robonucleotides, which may then be converted.

Flashcard 46: Identify the nitrogenous base:

Answer: cytosine

Flashcard 47: What is the function of telomerase in DNA replication?

Answer: Adds DNA to 3' end of chromosomes to prevent loss of genetic material with every round of replication

Flashcard 48: Give the pyrimidines in nucleic acids.

Answer: Cytosine, Uracil (RNA), Thymine (DNA) mnemonic: CUT the Py

Flashcard 49: What process converts cytosine to uracil?

Answer: deamination

Flashcard 50: Deamination of what nucleotide produces what other nucleotide?

Answer: cytosine to uracil

Flashcard 51: Which nucleic acid pase pairs are strongest? Why?

Answer: C-G - strong - 3 hydrogen bonds A-T - weak - 2 hydrogen bonds

Flashcard 52: What is the effect of high G-C content on DNA melting temperature?

Answer: high G-C content means high melting temp

Flashcard 53: nucleoside

Answer: base + ribose mnemonic: nucleoSide ends in riboSe

Flashcard 54: nucleotide

Answer: base + ribose + phosphate mnemonic: nucleoTide ends in phosphaTe

Flashcard 55: Identify the nitrogenous base:

Answer: adenine

Flashcard 56: What is the function of topoisomerase in DNA replication?

Answer: Create a nick in DNA helix to allow relaxtion of supercoils

Flashcard 57: What is the function of single stranded binding protein (SSBP) in DNA replication?

Answer: prevents unwound template strands from re-annealing during replication

Flashcard 58: What is the function of helicase in DNA replication?

Answer: unwinds DNA templates at replication fork

Flashcard 59: Which DNA strand undergoes continuous replication? Discontinuous replication?

Answer: leading strand - continuous lagging strand - discontinuous

Flashcard 60: "semiconservative" with respect to DNA

Answer: each DNA molecule contains one old template strand and one new daughter strand

Flashcard 61: origin of replication (ORI) with reference to DNA

Answer: consensus at which DNA replication begins

Flashcard 62: "frameshift" with respect to a DNA point mutation

Answer: mutation offsets reading frame

Flashcard 63: "nonsense" with respect to a DNA point mutation

Answer: new codon corresponds to stop sequence

Flashcard 64: "missense" with respect to a DNA point mutation

Answer: new codon corresponds to different, but similar, amino acid

Flashcard 65: "silent" with respect to a DNA point mutation

Answer: new codon corresponds to same amino acid

Flashcard 66: Give one exception to the universal nature of the genetic code.

Answer: mitochondria

Flashcard 67: Give one exception to the nonoverlapping nature of the genetic code.

Answer: some viruses

Flashcard 68: Give two exceptions to the redundancy in the genetic code.

Answer: methionine, tryptophan

Flashcard 69: "universal" with reference to the genetic code

Answer: conserved throughout evolution

Flashcard 70: "nonoverlapping" with reference to the genetic code

Answer: reads from a fixed point as a continuous sequence of bases

Flashcard 71: Identify the nitrogenous base:

Answer: guanine

Flashcard 72: How many DNA strands are cut by Type I and Type II topoisomerases?

Answer: Type I - one Type II - two

Flashcard 73: What is the function of primase in DNA replication?

Answer: makes an RNA primer on which DNA pol III can initiate replication

Flashcard 74: What is the function of DNA polymerase III in DNA replication?

Answer: Prokaryotic elongates, 5' to 3' exonuclease proofreading activity, 3' to 5'

Flashcard 75: What is the function of DNA polymerase I in DNA replication?

Answer: Prokaryotic degrades RNA primer, replaces with DNA

Flashcard 76: Identify the nitrogenous base:

Answer: thymine

Flashcard 77: alternative splicing

Answer: process by which different DNA segments are treated as introns or exons in the final mRNA transcript allowing for varied gene products from one gene

Flashcard 78: exon

Answer: segments of DNA that contain the actual coding sequence for the gene product

Flashcard 79: intron

Answer: intervening, noncoding segments of DNA

Flashcard 80: Which carbon of a nucleotide bears the phosphates?

Answer: 5'

Flashcard 81: What is the function of ligase in DNA replication?

Answer: ligates adjacent Okazaki fragments

Flashcard 82: Give the purines in nucleic acids.

Answer: Adenosine, Guanosine mnemonic: Pure As Gold

Flashcard 83: What is the difference between DNA methylation and histone methylation?

Answer: DNA - identifies template strand for directing mismatch repair Histone - silences nearby DNA

Flashcard 84: How are template and daughter strands distinguished during DNA replication?

Answer: Methylation of C and A residues on template strand

Flashcard 85: What are the characteristics of heterochromatin?

Answer: condensed, transcriptionally inactive, sterically inaccessible mnemonic: HeteroChromatin is Highly Condensed

Flashcard 86: What is the function of histone H1?

Answer: Links nucleosome beads, not a component of the nucleosome core.

Flashcard 87: Histones are rich in which amino acids?

Answer: lysine and arginine (explains predominant positive charge)

Flashcard 88: Which histones make up a nucleosome?

Answer: H2A, H2B, H3, H4 - 2 of each

Flashcard 89: How many subunits make up a nucleosome?

Answer: eight - nuclsoesomes are octamers

Flashcard 90: What is the predominant charge of histone proteins?

Answer: positive

Flashcard 91: What is the predominant charge of DNA?

Answer: negative

Flashcard 92: _____ scores are used to calculate the probability that two loci are linked (linkage disequilibrium)

Answer: LOD

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 93: What is the mode of inheritance of Gaucher disease? _____

Answer: Autosomal recessive

Extra: https://onlinemeded.org/spa/metabolism?ref=anki Atlas:

Flashcard 94: What is the penetrance of neurofibromatosis I? _____

Answer: 100%

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Flashcard 95: When using ELISA, detection involves the use of a(n) _____ linked to a(n) enzyme

Answer: antibody

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=6] https://onlinemeded.org?ref=anki

Flashcard 96: The G1 restriction point of the cell cycle is regulated by the tumor suppressors _ and _

Answer: p53

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=8] https://onlinemeded.org?ref=anki

Flashcard 97: Factor V Leiden is due to a point mutation near the _____ site of factor V

Answer: cleavage

Extra: * thus, protein C is unable to destroy activated factor V b/c there is no binding spot Watch Acquired & Inherited Thrombosis Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-coagulopathies-and-platelet-disorders-acquired-and-inherited-thrombosis-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/coagulation-and-fibrinolysis?index=6] https://onlinemeded.org/spa/heme-onc/hemostasis/acquire?ref=anki

Flashcard 98: One third of the collagen strand is made of the amino acid _____

Answer: glycine

Extra: Watch Collagen (Overview and Synthesis) [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-cell-biology/videos/medical-biochemistry-cell-biology-parts-of-cell-collagen-overview-and-synthesis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki

Flashcard 99: Topoisomerase _____ induces breaks in both the positive and negative DNA strands (double stranded breaks)

Answer: II

Extra: Watch DNA Replication [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-dna-replication?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Etoposide, teniposide, topotecan, irinotecan [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-dna-replication?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org/spa/infectious-disease?ref=anki

Flashcard 100: A(n) _____ mutation occurs when a nucleotide substitution codes for a stop codon

Answer: nonsense

Extra: Watch DNA Mutations [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-dna-mutations?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-mutations-damage-and-repair?index=2] https://onlinemeded.org?ref=anki

Flashcard 101: Generally, the 5' end of DNA or RNA is a(n) _____ group

Answer: phosphate

Extra: Watch Chromatin Structure [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-chromatin-structure?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=2] https://onlinemeded.org?ref=anki

Flashcard 102: _____ is the highest order of packaging of the chromosome

Answer: Heterochromatin

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=12] https://onlinemeded.org?ref=anki

Flashcard 103: What protein is associated with MHC I? _____

Answer: β2-microglobulin

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/t-cells?index=4] https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 104: Does a Dot (slot) blot require gel electrophoresis before analysis? _____

Answer: No!

Extra: https://onlinemeded.org?ref=anki

Flashcard 105: In the first step of PCR, DNA is _____ by using heat to separate the strands

Answer: denatured

Extra: Watch Recombinant DNA (Overview) Molecular Cloning & PCR [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-recombinant-dna-and-biotechnology-recombinant-dna-overview-molecular-cloning-and-polymerase-chain-reaction?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=2] https://onlinemeded.org?ref=anki

Flashcard 106: Hereditary spherocytosis is most often inherited in a(n) _____ pattern

Answer: autosomal dominant

Extra: Watch Extravascular Hemolysis Overview & RBC Membrane Defects [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-extravascular-hemolysis-overview-and-rbc-membrane-defects?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=10] https://onlinemeded.org/spa/genetics?ref=anki dominoes, think of structural = AD

Flashcard 107: How many primers are needed for polymerase chain reaction (PCR)? _____

Answer: Two (one for the 3' end of each DNA strand)

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=2] https://onlinemeded.org?ref=anki

Flashcard 108: What is the mechanism that results in malignancy from the N-MYC oncogene? _____

Answer: amplification

Extra: https://onlinemeded.org/spa/endocrinology/adrenals/acquire?ref=anki

Flashcard 109: What type of collagen makes up skin and blood vessels? _____

Answer: Type III

Flashcard 110: Which pyrimidine is found in DNA only? _____

Answer: Thymine

Extra: https://onlinemeded.org?ref=anki

Flashcard 111: A(n) _____ occurs when the long arms of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost

Answer: Robertsonian translocation

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=4] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 112: What is the nucleoSide that is made with guanine? _____

Answer: Guanosine

Extra: https://onlinemeded.org?ref=anki

Flashcard 113: _____ is a tumor suppressor that is a negative regulator of β-catenin and WNT pathway

Answer: APC

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Flashcard 114: Gain of functions in the _____ oncogene result in chronic myeloproliferative disorders

Answer: JAK2

Extra: Receptor associated tyrosine kinase (signals for things such as erythropoietin, thrombopoietin); hence there is activation of STATs https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 115: Microsatellites are repeating sequences of _____ DNA

Answer: non-coding

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=10] https://onlinemeded.org?ref=anki Colorectal carcinogenesis pathways Top: Chromosomal instability pathway (adenoma-carcinoma sequence) - Loss of the tumor suppressor gene, APC, results in hyperproliferative epithelium due to a loss of cellular adhesion and increased cellular proliferation. A mutation in KRAS results in unregulated cellular signaling and cellular proliferation, leading to the formation of an adenoma. Loss of the tumor suppressor genes TP53 and DCC results in the malignant transformation of an adenoma to carcinoma. The chromosomal instability pathway is responsible for carcinomas in FAP (loss of APC) as well as in most cases of sporadic colorectal carcinoma. Bottom: Microsatellite instability pathway - Acquired or inherited mutations in the mismatch repair genes (esp. MLH1 and MSH2) result in abnormal proliferation and the formation of adenoma and carcinoma. The microsatellite instability pathway is responsible for carcinomas in Lynch syndrome (HNPCC) and a few cases of sporadic colorectal carcinoma.

Flashcard 116: The _____ is a Y-shaped region along the DNA template where leading and lagging strands are synthesized

Answer: replication fork

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 117: α-thalassemia is usually due to gene _____

Answer: deletions

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/microcytic-anemia?index=16] https://onlinemeded.org/spa/cirrhosis-iii-acute-decompensation?ref=anki Atlas: Other:

Flashcard 118: The _____ is the distribution center for proteins and lipids from the endoplasmic reticulum to the vesicles and plasma membrane

Answer: golgi apparatus

Extra: https://onlinemeded.org?ref=anki

Flashcard 119: Which end of the DNA strand does the DNA primer bind to during PCR? _____

Answer: 3' end

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=2] https://onlinemeded.org?ref=anki

Flashcard 120: _____ include plant and animal cells

Answer: Eukaryotes

Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki

Flashcard 121: HIV reverse transcriptase is a(n) _-dependent _ polymerase that synthesizes dsDNA from ssRNA

Answer: RNA

Extra: https://onlinemeded.org/spa/microbiology/antivirals/acquire?ref=anki

Flashcard 122: _____ analysis analyzes DNA using variations in restriction enzyme sites between homologous DNA strands

Answer: RFLP

Extra: https://onlinemeded.org?ref=anki

Flashcard 123: What is the inheritance of pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy)? _____

Answer: Autosomal dominant

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Flashcard 124: Growth Factors induce cellular _____ vs mitogen

Answer: growth

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Flashcard 125: The two embryonic globins are _____ and epsilon (ε)

Answer: zeta (ζ)

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Flashcard 126: Which enzymes are responsible for removing the RNA primer in eukaryotes? _____

Answer: RNase H and FEN-1

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 127: Which tumor suppressor gene is associated with multiple endocrine neoplasia type 1? _____

Answer: MEN1

Extra: https://onlinemeded.org/spa/endocrinology/men-syndromes/acquire?ref=anki

Flashcard 128: What type of oncogene is Bcl-2? _____

Answer: Anti-apoptotic molecule

Extra: https://onlinemeded.org?ref=anki

Flashcard 129: What type of oncogene is JAK2? _____

Answer: Tyrosine kinase

Extra: https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 130: One hematological pathology that is due to abnormal splicing variants is _____

Answer: β-thalassemia

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Flashcard 131: Growth factor receptors are _____

Answer: receptor tyrosine kinases

Extra: https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 132: What is the mode of inheritance of SCID secondary to ADA deficiency? _____

Answer: Autosomal recessive

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Flashcard 133: β-thalassemia is usually due to gene _____

Answer: mutations

Flashcard 134: Which immunoglobulin isotypes can exist as a monomer? _____

Answer: All Ig types

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/antibodies?index=6] https://onlinemeded.org/spa/immunology/b-cell-activation/acquire?ref=anki

Flashcard 135: Ribonucleotide reductase is used to convert _ to _

Answer: UDP

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 136: The formation of Barr bodies (X-chromosome inactivation) is also known as _____

Answer: lyonization

Extra: Watch Chromatin Structure [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-chromatin-structure?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 137: Which vesicular trafficking protein is responsible for anterograde Golgi transport (ER to cis Golgi)? _____

Answer: COPII

Extra: https://onlinemeded.org?ref=anki

Flashcard 138: What class of diseases is myotonic dystrophy a part of? _____

Answer: Trinucleotide repeat expansion diseases

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 139: Which cell cycle phase is characterized by resting, non-dividing cells? _____

Answer: G0

Extra: Watch Cell Cycle [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-cell-biology/videos/medical-biochemistry-cell-biology-cell-cycle-and-division-cell-cycle?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=5] https://onlinemeded.org?ref=anki

Flashcard 140: _____ are a laboratory technique used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments

Answer: Microarrays

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=5] https://onlinemeded.org?ref=anki

Flashcard 141: Which bases are purines? _____

Answer: Adenine and guanine

Flashcard 142: Growth hormone is a single-chain polypeptide that is homologous with _____ and human placental lactogen

Answer: prolactin

Extra: https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 143: Are RNA and protein typically fragmented before analysis? _____

Answer: No

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=4] https://onlinemeded.org?ref=anki

Flashcard 144: HPV encodes E6 and E7 which promotes proteolysis of _ and _

Answer: p53

Extra: https://onlinemeded.org/spa/gynecology/cervical-cancer/acquire?ref=anki

Flashcard 145: A(n) _____ is a base plus a sugar (ribose or deoxyribose)

Answer: nucleoSide

Flashcard 146: How many possible combinations of 3 base codons are there? _____

Answer: 64

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=10] https://onlinemeded.org?ref=anki

Flashcard 147: Conversion of dUMP to dTMP via thymidylate synthase requires conversion of methylene THF to _____

Answer: DHF

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 148: Edward syndrome and Patau syndrome present with _____ free β-hCG

Answer: decreased

Extra: Watch Edwards & Patau Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-edwards-and-patau-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki Atlas:

Flashcard 149: Activated Ras (Ras-_____ complex) sends signals to the nucleus

Answer: GTP

Extra: https://onlinemeded.org?ref=anki

Flashcard 150: What process is used to repress transposable elements? _____

Answer: DNA Methylation

Extra: https://onlinemeded.org?ref=anki

Flashcard 151: Thyrotropin receptor antibodies (TRAb) are components of the Ig_____ fraction of plasma protein

Answer: G

Extra: https://onlinemeded.org/spa/endocrine?ref=anki

Flashcard 152: Are the Bcl-2 related proteins Bcl-2 and Bcl-x pro- or anti-apoptotic? _____

Answer: Anti-apoptotic

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 153: Elastin is rich in non-hydroxylated ___, _, and ___ residues (amino acids)

Answer: proline

Extra: https://onlinemeded.org?ref=anki

Flashcard 154: Is achondroplasia typically seen in patients with homozygous or heterozygous mutations? _____

Answer: Heterozygous (homozygous is lethal)

Extra: Watch Congenital Bone Disorders Osteogenesis Imperfecta, Achondroplasia & Osteopetrosis [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-musculoskeletal-derm/videos/medical-pathophysiology-musculoskeletal-and-derm-bone-congenital-bone-disorders-osteogenesis-imperfecta-achondroplasia-and-osteopetrosis?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 155: Do patients with α-thalassemia due to a three gene deletion have any α-globin? _____

Answer: Yes (very little)

Flashcard 156: _____ is a lysosomal storage disease caused by splice site mutations

Answer: Gaucher disease

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/biochemistry/videos/lysosomal-storage-diseases?index=7] https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 157: PDGF stimulates _____ growth for collagen synthesis

Answer: fibroblast

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/wound-healing/acquire?ref=anki

Flashcard 158: What sequence of nucleotides is repeated in Friedreich ataxia? _____

Answer: GAA

Extra: Watch Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis (ALS) & Friedreich Ataxia [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-spinal-cord-and-peripheral-nerve-spinal-muscular-atrophy-amyotrophic-lateral-sclerosis-als-and-friedreich-ataxia?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=5] https://onlinemeded.org/spa/genetics?ref=anki Atlas:

Flashcard 159: Which molecular motor protein is responsible for retrograde transport to the microtubule (+ to -)? _____

Answer: Dynein

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/neurology/videos/cellular-function?index=4] https://onlinemeded.org/spa/general-physiology/cytoskeleton/acquire?ref=anki

Flashcard 160: _____ are different forms of a single gene

Answer: Alleles

Extra: https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 161: Which type of DNA mutation causes the most severe damage? _____

Answer: frameshift mutations

Flashcard 162: _____ describes the tendency of alleles at two loci on the same chromosome to be inherited together more or less often than expected by chance

Answer: Linkage disequilibrium

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 163: What form of chromatin is less condensed? _____

Answer: Euchromatin

Extra: https://onlinemeded.org?ref=anki

Flashcard 164: The closer the recombination frequency is to _____%, the closer alleles in a haplotype are to each other

Answer: 0

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 165: Which purine is characterized by no amino group at the 12 o'clock position? _____

Answer: Guanine

Extra: https://onlinemeded.org?ref=anki

Flashcard 166: The first step of cloning is to isolate the eukaryotic _____ of interest

Answer: mRNA

Flashcard 167: Polycyclic Aromatic Hydrocarbons (PAH) cause carcinogenesis through their metabolites forming DNA _____

Answer: adducts

Extra: https://onlinemeded.org?ref=anki

Flashcard 168: The iso-type of an antibody is determined by the _____ region

Answer: Fc

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/antibodies?index=2] https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 169: Generally, the 3' end of DNA or RNA is a(n) _____ group

Answer: hydroxyl

Flashcard 170: What sequence of bases represents a polyadenylation signal? _____

Answer: AAUAAA

Extra: Watch associated Bootcamp video https://onlinemeded.org?ref=anki

Flashcard 171: What is the nucleoSide that is made with uracil? _____

Answer: Uridine

Extra: https://onlinemeded.org?ref=anki

Flashcard 172: _____ describes an inheritance in which both alleles contribute to the phenotype of the heterozygote

Answer: Codominance

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/basics-of-clinical-genetics?index=6] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 173: Which immunoglobulin is released into breast milk (colostrum)? _____

Answer: IgA

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/antibodies?index=6] https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 174: How many ring(s) do pyrimidines have? _____

Answer: One

Flashcard 175: What is the most common mechanism of chromosomal aneuploidy? _____

Answer: Meiotic nondisjunction

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 176: With H1, the nucleosome exists as _____ nm chromatin

Answer: 30

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=12] https://onlinemeded.org?ref=anki

Flashcard 177: What is the inheritance of Romano-Ward syndrome (a form of long QT syndrome)? _____

Answer: Autosomal dominant

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/Cardiac%20Conductive%20Physiology?index=8] https://onlinemeded.org?ref=anki

Flashcard 178: β-thalassemia is often due to mutations in _____ and promoter sequences

Answer: splice sites

Extra: * mRNA splicing defect -> few subunits produced * promoter sequence mutation -> premature stop codon -> no subunits produced Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/microcytic-anemia?index=18] https://onlinemeded.org/spa/cirrhosis-iii-acute-decompensation?ref=anki Atlas: Other:

Flashcard 179: Dopamine in the synapse is transported back into the nerve terminal via the _____ transporter

Answer: (DAT) dopamine

Extra: Sketchy Pharmacology: Autonomics (Indirect Sympathomimetics) Watch Indirect sympathomimetics [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-autonomic-drugs/videos/medical-pharmacology-autonomic-drugs-sympathetic-indirect-sympathomimetics?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org?ref=anki

Flashcard 180: What is the mode of inheritance of medium chain acyl-CoA dehydrogenase (MCAD) deficiency? _____

Answer: Autosomal recessive

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 181: Job (hyper-IgE) syndrome is due to a mutation in the _____ gene

Answer: STAT3

Extra: * Part of the JAK-STAT signal transduction pathway Watch Phagocytic Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-phagocytic-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki

Flashcard 182: What type of oncogene is BRAF? _____

Answer: Serine/threonine kinase

Extra: https://onlinemeded.org?ref=anki

Flashcard 183: Which hemoglobin type migrates the least far from the negative electrode on electrophoresis? _____

Answer: HbC

Extra: https://onlinemeded.org?ref=anki Atlas:

Flashcard 184: What is the mode of inheritance of protein C or S deficiency? _____

Answer: Autosomal dominant

Extra: Watch Acquired & Inherited Thrombosis Syndromes [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-coagulopathies-and-platelet-disorders-acquired-and-inherited-thrombosis-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/coagulation-and-fibrinolysis?index=6] https://onlinemeded.org/spa/heme-onc/hemostasis/acquire?ref=anki

Flashcard 185: What process is used embryologically to cause "Lyonization" _____

Answer: DNA Methylation

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 186: If a uniparental disomy results in a(n) heterozygous offspring, there may have been a(n) _____ error

Answer: meiosis I

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=2] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 187: When in the hypophosphorylated state, Rb sequesters _____, which is necessary for transition to the S phase

Answer: E2F transcription factor

Extra: https://onlinemeded.org?ref=anki

Flashcard 188: In epigenetics, when a histone is _____, the histone unwinds the DNA to make it available for transcription

Answer: acetylated

Extra: #REF! https://onlinemeded.org?ref=anki

Flashcard 189: What tumor suppressor does the E7 protein from Human Papillomavirus (HPV) bind to and inhibit? _____

Answer: Rb (specifically p105-Rb)

Extra: Watch Human papillomavirus (Papillomaviridae) [https://dashboard.sketchy.com/study/medical/courses/medical-microbiology/units/medical-microbiology-viruses/videos/medical-microbiology-viruses-dna-viruses-human-papillomavirus-papillomaviridae?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Cervical Neoplasia [https://dashboard.sketchy.com/study/medical/courses/medical-microbiology/units/medical-microbiology-viruses/videos/medical-microbiology-viruses-dna-viruses-human-papillomavirus-papillomaviridae?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/gynecology/cervical-cancer/acquire?ref=anki

Flashcard 190: One feature of the genetic code is that it is _____: it is read from a fixed starting point as a continuous sequence of bases

Answer: commaless, nonoverlapping

Extra: https://onlinemeded.org?ref=anki

Flashcard 191: What is the most common mode of inheritance of pyruvate dehydrogenase deficiency? _____

Answer: X-linked

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=8] https://onlinemeded.org/spa/metabolism/pyruvate-dehydrogenase/acquire?ref=anki

Flashcard 192: DNA viral genomes can either be circular or linear and are usually _____-stranded

Answer: double

Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki

Flashcard 193: What do homeobox genes code for? _____

Answer: Transcription factors

Extra: https://onlinemeded.org?ref=anki

Flashcard 194: Do women's cells undergoing hyperplasia maintain a 1:1 ratio of G6PD isoforms? _____

Answer: Yes

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=12] https://onlinemeded.org?ref=anki

Flashcard 195: The CFTR gene encodes a(n) _____-gated Cl- channel

Answer: ATP

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/pulmonology/videos/obstructive-lung-disease?index=10] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 196: Chronic PTH stimulates Osteoblasts to upregulate _____

Answer: RANKL

Extra: Watch Bisphosphonates, raloxifene, denosumab, calcitonin [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-gi-endocrine/videos/medical-pharmacology-gi-and-endocrine-thyroid-parathyroid-and-adrenal-bisphosphonates-raloxifene-denosumab-calcitonin?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 197: The dsDNA sequence reported in databases is the _____ strand, unless specifically stated otherwise

Answer: coding

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 198: What is the inheritance of Jervell and Lange-Nielsen syndrome (a form of long QT syndrome)? _____

Answer: Autosomal recessive

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/Cardiac%20Conductive%20Physiology?index=8] https://onlinemeded.org?ref=anki

Flashcard 199: What class of enzymes breaks down DNA in apoptosis? _____

Answer: Endonucleases

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 200: Xeroderma Pigmentosum is an inherited pathology due to a defective _____ pathway

Answer: Nucleotide Excision Repair

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-mutations-damage-and-repair?index=3] https://onlinemeded.org?ref=anki

Flashcard 201: Type I plasminogen deficiency (hypoplasminogenemia) is due to a(n) _ mutation in the _ gene

Answer: autosomal recessive

Extra: https://onlinemeded.org?ref=anki

Flashcard 202: Do mitochondrial DNA utilize histones? _____

Answer: No

Extra: https://onlinemeded.org?ref=anki

Flashcard 203: What class of histone is found outside the nucleosome and functions to condense the nucleosome together? _____

Answer: H1

Flashcard 204: Cyclin D1 sits on chromosome _____

Answer: 11

Extra: https://onlinemeded.org?ref=anki

Flashcard 205: What class of diseases is Huntington disease a part of? _____

Answer: Trinucleotide repeat expansion diseases

Extra: Watch Creutzfeldt Jakob Disease, Parkinsons Disease & Huntingtons Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-neuro/videos/medical-pathophysiology-neuro-neurodegenerative-creutzfeldt-jakob-disease-parkinsons-disease-and-huntingtons-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=5] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 206: A(n) _____ is the specific location of a gene on a chromosome

Answer: locus

Extra: https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 207: Down syndrome presents with _____ free α-fetoprotein (AFP)

Answer: decreased

Extra: Watch Down Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trisomy-diseases-downs-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org/spa/genetics?ref=anki Atlas:

Flashcard 208: In the second step of PCR, DNA primers _____ to specific sequences on each DNA strand to be amplified

Answer: anneal

Flashcard 209: Is DNA synthesis high or low fidelity? _____

Answer: High

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 210: Histones are _____ charged because they have a large quantity of lysine and arginine amino acids

Answer: positively

Extra: https://onlinemeded.org/spa/dna-to-protein/amino-acids/acquire?ref=anki

Flashcard 211: Primary hemochromatosis is due to mutations in the _____ gene on chromosome 6, leading to increased expression of DMT1 and decreased synthesis of Hepcidin

Answer: HFE

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/hepatic-pathology?index=20] https://onlinemeded.org/spa/genetics?ref=anki Atlas:

Flashcard 212: DNA replication errors lead to _____ mutations

Answer: mismatch base

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-mutations-damage-and-repair?index=3] https://onlinemeded.org?ref=anki

Flashcard 213: What is the mode of inheritance of G6PD deficiency? _____

Answer: X-linked recessive

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=7] https://onlinemeded.org/spa/metabolism?ref=anki Other:

Flashcard 214: What point mutations in the HFE gene are typically seen with primary hemochromatosis? _____ (more common) and H63D

Answer: C282Y

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/hepatic-pathology?index=20] https://onlinemeded.org?ref=anki Atlas:

Flashcard 215: Once a steroid hormone has bound its receptor in the cytoplasm or nucleus, the hormone-receptor complex then _____

Answer: dimerizes

Extra: https://onlinemeded.org/spa/general-pharmacology/general-principles/acquire?ref=anki

Flashcard 216: What chromosome is cyclin D1 located on? _____

Answer: Chromosome 11

Extra: Watch Non Hodgkin Lymphoma [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-myeloid-lymphoid/videos/medical-pathophysiology-myeloid-and-lymphoid-lymphoid-and-plasma-cell-disorders-non-hodgkin-lymphoma?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/leukemias-and-lymphomas?index=10] https://onlinemeded.org/spa/hematology-oncology/lymphoma/acquire?ref=anki Atlas: Other:

Flashcard 217: _____ is the normal differential expression of an allele depending on parental origin (e.g. only one allele is active)

Answer: Genetic imprinting

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 218: What is the function of the H1 class of histones? _____

Answer: Condense/link the nucleosomes together

Flashcard 219: How can enhancers be far away from the gene it regulates? _____

Answer: DNA will bend to bring enhancer to promoter

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=4] https://onlinemeded.org?ref=anki

Flashcard 220: Telomerase is a rare example where _____ activity occurs endogenously in humans

Answer: reverse transcriptase

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 221: A(n) Southern blot is used to analyze _____

Answer: DNA

Extra: Watch Blotting [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-recombinant-dna-and-biotechnology-blotting?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=4] https://onlinemeded.org?ref=anki

Flashcard 222: Where are estrogen receptors expressed (cell membrane, cytoplasm, nucleus)? _____

Answer: Cytoplasm; translocate to nucleus when bound by estrogen

Extra: Watch Breast Cancer [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-breast-breast-cancer?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/reproduction/videos/pregnancy-and-menstruation?index=3] https://onlinemeded.org/spa/surgery-general/breast-cancer/acquire?ref=anki

Flashcard 223: _____ is the production of a recombinant DNA molecule that is self-perpetuating

Answer: Cloning

Extra: https://onlinemeded.org?ref=anki

Flashcard 224: Primary lactase deficiency occurs due to absence of the _____ allele

Answer: lactase-persistence

Extra: Watch Lactase Deficiency [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-metabolism/videos/medical-biochemistry-metabolism-carbohydrates-lactase-deficiency?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/intestinal-pathology?index=3] https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 225: _____ is a powerful diagnostic tool used to amplify a desired fragment of DNA

Answer: Polymerase Chain Reaction (PCR)

Flashcard 226: Pseudohypoparathyroidism type 1a occurs due to an inherited defect from the _____ due to imprinting

Answer: mother

Flashcard 227: What form of chromatin do Barr bodies exist as? _____

Answer: Heterochromatin

Flashcard 228: The G6PD isoform genes are located on the _____

Answer: X-chromosome

Extra: https://onlinemeded.org?ref=anki

Flashcard 229: Lac Operon: In the presence of _____, the repressor protein is unbound from the operator site, leading to increased transcription

Answer: high lactose

Extra: Watch Lac Operon [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-lac-operon?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=12] https://onlinemeded.org?ref=anki

Flashcard 230: HCV is associated with _, which are Ig_ immunoglobulins that precipitate out of the blood at cool temperatures

Answer: cryoglobulins

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/hepatic-pathology?index=4] https://onlinemeded.org/spa/gastroenterology/viral-hepatitis/acquire?ref=anki

Flashcard 231: Patients with kallmann syndrome most commonly have mutations in the _____ or FGFR-1 genes

Answer: KAL-1

Extra: Watch Amenorrhea [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-reproductive-gu/videos/medical-pathophysiology-reproductive-and-gu-reproductive-hormones-and-ovarian-disorders-amenorrhea?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 232: What type of oncogene is cyclin D1? _____

Answer: Cyclin (cell cycle regulator)

Extra: https://onlinemeded.org?ref=anki

Flashcard 233: The source of alkaline phosphatase can be determined by an ALP isozyme test, which works by _____

Answer: gel electrophoresis

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/pancreatic-and-biliary-pathology?index=6] https://onlinemeded.org?ref=anki

Flashcard 234: _____ are a cylindrical outer structure composed of a helical array of polymerized heterodimers of α- and β-tubulin

Answer: Microtubules

Extra: https://onlinemeded.org/spa/general-physiology/cytoskeleton/acquire?ref=anki

Flashcard 235: When using CRISPR/Cas9 to knock-in DNA, a(n) _____ must be added to guide insertion of a construct

Answer: repair template

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/laboratory-techniques?index=4] https://onlinemeded.org?ref=anki

Flashcard 236: What is the mode of inheritance of Hunter syndrome? _____

Answer: X-linked recessive

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 237: Which type of gene deletion (cis or trans) is associated with an increased risk of severe thalassemia in offspring? _____

Answer: Cis deletion

Flashcard 238: Is the T-cell antigen receptor mobile or rigid? _____

Answer: Rigid (no hinge region)

Extra: https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 239: Which molecular motor protein is responsible for anterograde transport to the microtubule (- to +)? _____

Answer: Kinesin

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/neurology/videos/cellular-function?index=4] https://onlinemeded.org/spa/general-physiology/cytoskeleton/acquire?ref=anki

Flashcard 240: What is the mode of inheritance of Job syndrome? _____

Answer: Autosomal dominant

Extra: Watch Phagocytic Cell Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-immunology/videos/medical-pathophysiology-immunology-immunodeficiency-phagocytic-cell-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki

Flashcard 241: _____ is chromosomal rearrangment between homologous chromosomes

Answer: Crossover

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 242: _____ describes the presence of genetically distinct cell lines in the same individual

Answer: Mosaicism

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/basics-of-clinical-genetics?index=6] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 243: What gene is defective in Menkes disease? _____

Answer: ATP7A

Extra: https://onlinemeded.org?ref=anki

Flashcard 244: p53 induces apoptosis by activating _ and _, which dimerize and form a pore in the outer mitochondrial membrane

Answer: BAX

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/principles-of-oncology-and-therapeutics?index=10] https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 245: NF-kB activation pathway: the cascade of NF-kB activation is self limiting, as NF-kB stimulates transcription of more _____

Answer: IkB

Extra: https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 246: Lac Operon: Increased cAMP (low glucose) leads to activation of _____, which resides upstream from the promoter, causing increased transcription

Answer: catabolite activator protein (CAP)

Flashcard 247: Myotonic dystrophy is due to abnormal expression of the enzyme _____

Answer: myotonin protein kinase

Extra: * mislabeled in sketchy Watch Muscular Dystrophies [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-musculoskeletal-derm/videos/medical-pathophysiology-musculoskeletal-and-derm-muscle-muscular-dystrophies?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=4] https://onlinemeded.org/spa/general-physiology/skeletal-muscle/acquire?ref=anki Atlas:

Flashcard 248: Major histocompatibility complexes (MHCs) are encoded by _____ genes

Answer: HLA

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/t-cells?index=4] https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 249: Down syndrome presents with _____ free β-hCG

Answer: increased

Flashcard 250: Recombinant IFN-y can be used to treat _____

Answer: Chronic Granulomatous Disease

Extra: https://onlinemeded.org/spa/pediatrics/immunodeficiency/acquire?ref=anki

Flashcard 251: Hereditary pancreatitis may be caused by mutations in the cleavage site of trypsinogen or the _____ protein

Answer: SPINK1

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/physiology?index=12] https://onlinemeded.org/spa/gastroenterology?ref=anki

Flashcard 252: NF2 is a tumor suppressor gene that encodes for the protein _____

Answer: merlin (schwannomin)

Flashcard 253: Autosomal recessive polycystic kidney disease is due to a(n) _____ gene mutation, which codes for fibrocystin

Answer: PKHD1

Extra: Watch Congenital & Cystic Kidney Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-renal/videos/medical-pathophysiology-renal-congenital-and-chronic-kidney-disease-congenital-and-cystic-kidney-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/renal?ref=anki

Flashcard 254: Active tetrahydrofolate is used in the synthesis of _____ and thymidine, which may then be used for DNA and RNA cell division

Answer: purines

Extra: Watch Megaloblastic Anemia Folate Deficiency & Vitamin B Deficiency [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-metabolism/videos/medical-biochemistry-metabolism-amino-acids-and-proteins-homocystinuria?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/macrocytic-anemia?index=2] https://onlinemeded.org/spa/hematology-oncology/macrocytic-anemia/acquire?ref=anki

Flashcard 255: Which protein from high-risk HPV binds to Rb (specifically p105-Rb)? _____

Answer: E7

Extra: https://onlinemeded.org/spa/gynecology/cervical-cancer/acquire?ref=anki

Flashcard 256: Microtubules grow _ and collapse _

Answer: slowly

Extra: https://onlinemeded.org/spa/general-physiology/cytoskeleton/acquire?ref=anki

Flashcard 257: Familial dilated cardiomyopathy is due to mutations in the gene encoding _____

Answer: titin

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cardiomyopathy?index=4] https://onlinemeded.org?ref=anki

Flashcard 258: Without H1, the nucleosome exists as _____ nm chromatin

Answer: 10

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=12] https://onlinemeded.org?ref=anki

Flashcard 259: Topoisomerase _____ induces breaks in single strands of DNA

Answer: I

Extra: Watch DNA Replication [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-dna-replication?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Etoposide, teniposide, topotecan, irinotecan [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-antineoplastics/videos/medical-pharmacology-antineoplastics-dna-and-cellular-division-etoposide-teniposide-topotecan-irinotecan?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 260: α-thalassemia with a(n) _____ deletion is more prevalent in Asian populations

Answer: cis

Flashcard 261: How many hydrogen bonds exist between a G-C base pairing? _____

Answer: Three

Extra: https://onlinemeded.org?ref=anki

Flashcard 262: What class of diseases is Friedreich ataxia a part of? _____

Answer: Trinucleotide repeat expansion diseases

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=5] https://onlinemeded.org/spa/genetics?ref=anki Atlas:

Flashcard 263: Phosphate groups give DNA a(n) _____ charge

Answer: negative

Extra: https://onlinemeded.org?ref=anki

Flashcard 264: What is the mode of inheritance of phenylketonuria (PKU)? _____

Answer: Autosomal recessive (incidence ~ 1:10,000)

Extra: https://onlinemeded.org/spa/dna-to-protein/amino-acids/acquire?ref=anki Other: BH4 = tetrahydrobiopterin

Flashcard 265: What point mutation is the cause of Factor V Leiden? _____

Answer: Arg506Gln (G -> A point mutation)

Flashcard 266: Mutations that cause hypertrophic cardiomyopathy most commonly have a(n) _____ inheritance pattern

Answer: autosomal dominant

Extra: Watch Hypertrophic Cardiomyopathy [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-cardiac/videos/medical-pathophysiology-cardiac-myocardial-and-pericardial-disorders-hypertrophic-cardiomyopathy?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/cardiology/videos/cardiomyopathy?index=8] https://onlinemeded.org/spa/cardiology/cardiomyopathy/acquire?ref=anki

Flashcard 267: Ras is associated with growth factor receptors in an inactive _____-bound state

Answer: GDP

Extra: https://onlinemeded.org?ref=anki

Flashcard 268: What type of chromosome is most commonly involved in a robertsonian translocation? _____

Answer: Acrocentric chromosomes

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=4] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 269: What is the mode of inheritance of IL-12 receptor deficiency? _____

Answer: Autosomal recessive

Extra: https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 270: _____-rich sequences are found in promoters and origins of replication

Answer: AT

Extra: Watch Transcription and RNA Processing [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-rna-transcription-and-rna-processing?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=4] https://onlinemeded.org?ref=anki

Flashcard 271: What type of oncogene is RAS? _____

Answer: GTP-binding protein (signal transducer)

Extra: https://onlinemeded.org?ref=anki

Flashcard 272: How many hydrogen bonds exist between an A-T base pairing? _____

Answer: Two

Extra: https://onlinemeded.org?ref=anki

Flashcard 273: Which enzyme is responsible for elongating the DNA strand? _____

Answer: DNA polymerase (specifically, DNA polymerase III in prokaryotes)

Flashcard 274: What is another name for prokaryotic topoisomerase II? _____

Answer: DNA gyrase

Flashcard 275: "Barr bodies" formed by lyonization may be visible where in the cell? _____

Answer: Periphery of the nucleus

Flashcard 276: A(n) _____ mutation occurs when a nucleotide substitution codes for a different amino acid

Answer: missense

Flashcard 277: Sickle cell trait results in _____ 50% HbS in RBCs

Answer: <

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org?ref=anki Other:

Flashcard 278: Once levels of Cyclins reach an appropriate level, these complex with _____ to hyperphosphorylate Rb

Answer: Cyclin-Dependent Kinases

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/principles-of-oncology-and-therapeutics?index=10] https://onlinemeded.org?ref=anki

Flashcard 279: A(n) _____ is a DNA sequence which reads the same backwards and forwards on opposite strands of DNA (usually 4 or 6 bp)

Answer: palindrome

Extra: https://onlinemeded.org?ref=anki

Flashcard 280: What sequence of nucleotides is repeated in Fragile X syndrome? _____

Answer: CGG

Extra: Watch Fragile X Syndrome [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-trinucleotide-repeat-diseases-fragile-x-syndrome?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=5] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 281: What process is used to genomically "imprint" DNA during embryogenesis? _____

Answer: DNA Methylation

Extra: Watch Disorders of Imprinting (Prader Willi & Angelman Syndromes) [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-disorders-of-imprinting-and-microdeletion-disorders-of-imprinting-prader-willi-and-angelman-syndromes?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=2] https://onlinemeded.org?ref=anki

Flashcard 282: Does a uniparental disomy result in euploidy or aneuploidy? _____

Answer: Euploidy

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 283: Hirschsprung disease is associated with inactivating mutations in the _____ gene

Answer: RET

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=6] https://onlinemeded.org?ref=anki Atlas:

Flashcard 284: Wilson disease is due to mutations in the _____ gene on chromosome 13

Answer: ATP7B

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/hepatic-pathology?index=18] https://onlinemeded.org/spa/gastroenterology?ref=anki Atlas:

Flashcard 285: What type of oncogene is KIT? _____

Answer: Stem cell growth factor receptor

Extra: https://onlinemeded.org?ref=anki

Flashcard 286: The proteins Bcl-2 and Bcl-xL normally stabilize the _____, preventing pro-apoptotic proteins from leaving the intermitochondrial membrane space

Answer: outer mitochondrial membrane

Extra: https://onlinemeded.org?ref=anki

Flashcard 287: Different exons are frequently combined by _____ to produce a larger number of unique proteins

Answer: alternative splicing

Extra: https://onlinemeded.org?ref=anki

Flashcard 288: What is the mode of inheritance of sickle cell anemia? _____

Answer: Autosomal recessive

Extra: Watch Autosomal Recessive Diseases [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-autosomal-recessive-diseases-autosomal-recessive-diseases?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki Other:

Flashcard 289: What pathology is associated with a defect in the enzyme N-acetylglucosaminyl-1-phosphotransferase? _____

Answer: I-cell disease (inclusion cell disease/mucolipidosis type II)

Extra: https://onlinemeded.org?ref=anki

Flashcard 290: The genes that are responsible for the generation of homeodomain proteins are the _ gene and _ gene

Answer: homeobox (HOX)

Extra: https://onlinemeded.org?ref=anki

Flashcard 291: The Cell Cycle is regulated by Cyclins and Cyclin-Dependent Kinases (CDKs) which when complexed allow cells to bypass _____

Answer: restriction points (checkpoints)

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/mitosis-meiosis-and-the-cell-cycle?index=8] https://onlinemeded.org?ref=anki

Flashcard 292: What is the difference (structurally) between thymine and uracil? _____

Answer: Thymine has a methyl group, uracil does not

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=2] https://onlinemeded.org?ref=anki

Flashcard 293: In females, one of two X-chromosomes is condensed and its genes turned off by _____, forming heterochromatin (lyonization)

Answer: cytosine methylation

Extra: https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 294: When exposed to conditions that favor the taut form of Hemoglobin, HbS _____ and forms needle-like structures ("sickle cells")

Answer: polymerizes

Extra: Watch Sickle Cell Disease [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-sickle-cell-disease?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki Other:

Flashcard 295: Which purine is characterized by an amino group at the 12 o'clock position? _____

Answer: Adenine

Extra: https://onlinemeded.org?ref=anki

Flashcard 296: What is the mode of inheritance of alkaptonuria? _____

Answer: Autosomal recessive

Extra: https://onlinemeded.org/spa/dna-to-protein/amino-acids/acquire?ref=anki

Flashcard 297: _____ are small, noncoding RNA molecules that post-transcriptionally regulate protein expression

Answer: microRNAs

Extra: https://onlinemeded.org?ref=anki

Flashcard 298: The _____ type of Ehlers-Danlos syndrome (joint and skin symptoms) is caused by a mutation in type V collagen

Answer: classical

Extra: https://onlinemeded.org?ref=anki

Flashcard 299: Which pyrimidine is found in RNA only? _____

Answer: Uracil

Extra: https://onlinemeded.org?ref=anki

Flashcard 300: _____ have no nucleus or membrane bound organelles

Answer: Prokaryotes

Extra: https://onlinemeded.org/spa/infectious-disease?ref=anki

Flashcard 301: Achondroplasia is due to a(n) activating mutation in the _____ gene

Answer: fibroblast growth factor receptor 3 (FGFR3)

Flashcard 302: Why is the dystrophin (DMD) gene prone to spontaneous mutations? _____

Answer: Largest protein-coding human gene

Extra: Watch Muscular Dystrophies [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-musculoskeletal-derm/videos/medical-pathophysiology-musculoskeletal-and-derm-muscle-muscular-dystrophies?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=4] https://onlinemeded.org/spa/general-physiology/skeletal-muscle/acquire?ref=anki Atlas:

Flashcard 303: What kind of inheritance do patients with androgenetic alopecia exhibit? _____

Answer: Polygenic

Extra: https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 304: Antidiuretic hormone (ADH) is packaged with neurophysin _____ and glycoprotein

Answer: II

Extra: https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 305: What type of oncogene is HER2/neu (c-erbB2)? _____

Answer: Epidermal growth factor receptor

Extra: https://onlinemeded.org?ref=anki

Flashcard 306: The _____ chain contributes to the Fab and Fc region of an antibody

Answer: heavy

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/immunology/videos/antibodies?index=2] https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 307: Sickle cell _____ is characterized by the presence of only one mutated β-chain

Answer: trait

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=4] https://onlinemeded.org?ref=anki Other:

Flashcard 308: There are _____ total β-globin alleles present on chromosome 11

Answer: two

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/microcytic-anemia?index=18] https://onlinemeded.org/spa/genetics?ref=anki Atlas: Other:

Flashcard 309: The most common CFTR gene mutation (cystic fibrosis) results in a misfolded protein that is retained in the _____

Answer: RER

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/pulmonology/videos/obstructive-lung-disease?index=10] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 310: HDAC inhibitors prevent histones from being _____ resulting in genes such as tumor suppressors being transcribed

Answer: deacetylated

Extra: #REF! https://onlinemeded.org?ref=anki

Flashcard 311: Which gene of embryogenesis is involved in patterning along the anteroposterior axis and CNS development? _____

Answer: Sonic hedgehog gene

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/embryology/videos/embryonic-period-weeks-3-8?index=8] https://onlinemeded.org?ref=anki

Flashcard 312: What type of probe is used to bind protein when using a Western blot? _____

Answer: Labeled antibody

Flashcard 313: Thymidylate Synthase is an enzyme that catalyzes the methylation of _ to _, utilizing the methyl group from a(n) methylated-THF

Answer: dUMP

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 314: Down syndrome presents with _____ serum PAPP-A

Answer: decreased

Flashcard 315: _____ is a lysosomal storage disease caused by frameshift mutations

Answer: Tay-Sachs

Extra: Watch DNA Mutations [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-molecular-biology/videos/medical-biochemistry-molecular-biology-dna-dna-mutations?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/biochemistry/videos/lysosomal-storage-diseases?index=3] https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 316: DNA/RNA polymerase always build in the _____ direction

Answer: 5' to 3'

Extra: https://onlinemeded.org?ref=anki

Flashcard 317: DNA laddering in multiples of 180 BP is a sensitive indicator of _____

Answer: apoptosis

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 318: A(n) _____ transgenic mouse has had a gene removed

Answer: knock-out

Extra: https://onlinemeded.org?ref=anki

Flashcard 319: Which cell cycle phase is characterized by DNA synthesis and replication? _____

Answer: S

Flashcard 320: Hemophilia A can arise from a(n) _____ mutation without any family history (20%)

Answer: new (de novo)

Extra: * triggers include Pregancy, RA, PCN, SLE Watch Inherited Coagulation Defects [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-coagulopathies-and-platelet-disorders-inherited-coagulation-defects?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/coagulation-and-fibrinolysis?index=8] https://onlinemeded.org/spa/heme-onc/hemostasis/acquire?ref=anki

Flashcard 321: What enzyme catalyzes the conversion of UDP to dUDP? _____

Answer: Ribonucleotide reductase

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 322: In sickle cells, the mutated hemoglobin molecules overlap due to increased _____ interactions between hemoglobin molecules

Answer: hydrophobic/nonpolar

Extra: * due to replacement of negatively charged glutamic acid with NONPOLAR valine https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki

Flashcard 323: Which pyrimidine is characterized by the presence of methyl groups, but no amino group at the 12 o'clock position? _____

Answer: Thymine

Extra: https://onlinemeded.org?ref=anki

Flashcard 324: Which prokaryotic polymerase has both 3 to 5' exonuclease activity and 5' to 3' exonuclease activity? _____

Answer: DNA polymerase I

Flashcard 325: A(n) _____ transgenic mouse has had a gene inserted

Answer: knock-in

Extra: https://onlinemeded.org?ref=anki

Flashcard 326: Which type of receptor is associated with growth hormone? _____

Answer: Receptor associated tyrosine kinase

Extra: Sketchy Pharmacology: Thyroid, Pituitary, & Adrenal Watch Growth hormone, mecasermin, octreotide, pegvisomant [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-gi-endocrine/videos/medical-pharmacology-gi-and-endocrine-hypothalamic-and-pituitary-growth-hormone-mecasermin-octreotide-pegvisomant?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/endocrinology?ref=anki

Flashcard 327: X-linked recessive diseases are commonly more severe in _____

Answer: males

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/basics-of-clinical-genetics?index=4] https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 328: Vitamins _ and _ are necessary for synthesis of DNA precursors

Answer: B9 (folate)

Extra: Watch Megaloblastic Anemia: Folate Deficiency & Vitamin B Deficiency [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-megaloblastic-anemia-folate-deficiency-and-vitamin-b12-deficiency?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/macrocytic-anemia?index=2] https://onlinemeded.org/spa/hematology-oncology/macrocytic-anemia/acquire?ref=anki Other:

Flashcard 329: What is the most common mechanism of chromosomal aneuploidy? _____

Answer: Meiotic nondisjunction

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 330: APC is a tumor suppressor gene that encodes a negative regulator of the _____ pathway

Answer: β-catenin/WNT

Extra: https://onlinemeded.org?ref=anki

Flashcard 331: What class of protein receptor is common to all steroid hormones, thyroid hormones, and vitamins A/D? _____

Answer: Zinc finger

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Flashcard 332: What is the inheritance of classic galactosemia? _____

Answer: Autosomal recessive

Extra: Watch Metabolism Disorders Galactose [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-metabolism/videos/medical-biochemistry-metabolism-carbohydrates-metabolism-and-disorders-of-galactose?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] Watch Autosomal Recessive Diseases [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-metabolism/videos/medical-biochemistry-metabolism-carbohydrates-metabolism-and-disorders-of-galactose?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 333: Sickled cells become _____ due to irreversible damage from persistent polymerization-depolymerization cycles, which exacerbates polymerization and sickling

Answer: stiff

Extra: * persistent sickle shape -> potassium leakage -> cellular dehydration -> increased HbS concentration -> further polymerization and sickling https://onlinemeded.org/spa/pediatrics/sickle-cell-disease/acquire?ref=anki

Flashcard 334: If a disease has a mitochondrial inheritance pattern, it can be inherited only from the _____

Answer: mother

Extra: Watch Mitochondrial Inheritance Disorders [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-clinical-genetics/videos/medical-biochemistry-clinical-genetics-mitochondrial-diseases-mitochondrial-inheritance-disorders?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/basics-of-clinical-genetics?index=4] https://onlinemeded.org/spa/genetics/modes-of-inheritance/acquire?ref=anki

Flashcard 335: α-fetoprotein (AFP) is a protein that is normally made by the _____

Answer: fetus

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/high-yield-genetic-disorders?index=6] https://onlinemeded.org?ref=anki

Flashcard 336: A(n) _____ is a base plus a sugar (ribose or deoxyribose) plus phosphate

Answer: nucleoTide

Flashcard 337: What sequence of nucleotides is repeated in Huntington disease? _____

Answer: CAG

Flashcard 338: Cyclin-Dependent Kinases are constitutive and are normally _____

Answer: inactive

Extra: https://onlinemeded.org?ref=anki

Flashcard 339: What cell cycle phase do DNA and histone synthesis occur? _____

Answer: S phase

Extra: Watch Cell Cycle [https://dashboard.sketchy.com/study/medical/courses/medical-biochemistry/units/medical-biochemistry-cell-biology/videos/medical-biochemistry-cell-biology-cell-cycle-and-division-cell-cycle?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=12] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 340: In the final step of PCR, heat-stable Taq DNA polymerase _____ the DNA sequence following each primer

Answer: elongates

Flashcard 341: Bcl2 is an anti-apoptotic molecule that sits on chromosome _____

Answer: 18

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 342: McCune-Albright syndrome is inherited in a(n) _____ fashion

Answer: non-inherited - somatic mutation

Extra: Watch Hyperpituitarism [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-endocrine/videos/medical-pathophysiology-endocrine-hypothalamic-and-pituitary-disorders-hyperpituitarism?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 343: What is the nucleoSide that is made with thymine? _____

Answer: Thymidine

Extra: https://onlinemeded.org?ref=anki

Flashcard 344: Signal transducers relay receptor activation to the _____ (e.g. Ras)

Answer: nucleus

Extra: https://onlinemeded.org?ref=anki

Flashcard 345: _____ describes phenotypic variation among individuals with the same genotype

Answer: Variable expressivity

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/basics-of-clinical-genetics?index=6] https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 346: What is the mechanism that results in malignancy from the PDGFB oncogene? _____

Answer: Overexpression

Extra: https://onlinemeded.org?ref=anki

Flashcard 347: What class of protein receptor is common to cAMP response element binding (CREB) proteins? _____

Answer: Leucine zipper

Extra: https://onlinemeded.org?ref=anki

Flashcard 348: The APC tumor suppresor regulates the Wnt signalling pathway by destroying _____ in the absence of a Wnt receptor-ligand interaction

Answer: B-catenin

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/gastroenterology/videos/colorectal-pathology?index=9] https://onlinemeded.org/spa/gastroenterology/colon-cancer/acquire?ref=anki

Flashcard 349: The Ig heavy chain genes on chromosome 14 are _____ expressed

Answer: constitutively

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/leukemias-and-lymphomas?index=8] https://onlinemeded.org/spa/hematology-oncology/lymphoma/acquire?ref=anki Other:

Flashcard 350: A(n) _____ is negatively charged DNA wrapped around the outside of positively charged proteins called histones

Answer: nucleosome (10 nm chromatin)

Flashcard 351: What class of enzymes cleaves nucleotides in the middle of a DNA strand? _____

Answer: Endonucleases

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-mutations-damage-and-repair?index=3] https://onlinemeded.org?ref=anki

Flashcard 352: What proteins compose the type 1 collagen triple helix (encoded by the COL1A2 & COL2A1 gene)? _____

Answer: 2 alpha-1 chains & 1 alpha-2 chains

Extra: https://onlinemeded.org?ref=anki

Flashcard 353: What is the mode of inheritance of malignant hyperthermia? _____

Answer: Autosomal dominant

Extra: First Aid Pharmacology: Neuro/Psych Watch Inhaled anesthetics, dantrolene [https://dashboard.sketchy.com/study/medical/courses/medical-pharmacology/units/medical-pharmacology-neuro-psych/videos/medical-pharmacology-neuropsych-anesthetics-and-analgesics-inhaled-anesthetics-dantrolene?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/musculoskeletal/videos/skeletal-muscle?index=5] https://onlinemeded.org/spa/neuroscience/anesthesia/acquire?ref=anki

Flashcard 354: A(n) _____ blot is used to identify DNA-binding proteins using labeled oligonucleotide probes

Answer: Southwestern

Flashcard 355: Hereditary spherocytosis most commonly involves defects in _____, spectrin, band 3.1, or protein 4.2

Answer: ankyrin

Extra: Watch Extravascular Hemolysis Overview & RBC Membrane Defects [https://dashboard.sketchy.com/study/medical/courses/medical-pathophysiology/units/medical-pathophysiology-blood-coagulation/videos/medical-pathophysiology-blood-and-coagulation-normocytic-and-macrocytic-anemias-extravascular-hemolysis-overview-and-rbc-membrane-defects?utm_source=anki&utm_medium=partnership&utm_campaign=february_update&utm_content=medical]Watch associated Bootcamp video [https://app.bootcamp.com/med-school/hematology-and-oncology/videos/normocytic-anemia?index=6] https://onlinemeded.org/spa/hematology-oncology/normocytic-anemia/acquire?ref=anki Atlas: Other:

Flashcard 356: Hemochromatosis may be primary; due to _____ mutations in iron absorption

Answer: autosomal recessive

Flashcard 357: Hemoglobin C disease is caused by a mutation in the _____ chain of hemoglobin

Answer: β

Flashcard 358: What is the effect of increased G-C content on the melting temperature of a DNA strand? _____

Answer: Increased melting temperature

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-structure?index=2] https://onlinemeded.org?ref=anki

Flashcard 359: Mitochondrial diseases often demonstrate variable expression in a population or within a family due to _____

Answer: heteroplasmy

Flashcard 360: Which replication enzyme is a RNA-dependent DNA polymerase, and thus a major example of reverse transcriptase activity, in humans? _____

Answer: Telomerase

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/genetics/videos/dna-replication-transcription-and-translation?index=2] https://onlinemeded.org?ref=anki

Flashcard 361: A mutation at a(n) _____ results in a retained intron in the mRNA, leading to a protein with impaired or altered function

Answer: splice site

Flashcard 362: Prothrombin 20210 mutation is a point mutation in the _____ region of the gene

Answer: 3' untranslated

Flashcard 363: Which hemoglobin type migrates the furthest from the negative electrode on electrophoresis? _____

Answer: HbA

Extra: https://onlinemeded.org?ref=anki Atlas:

Flashcard 364: The 5 to 3' exonuclease activity of prokaryotic DNA polymerase I is to remove the _____

Answer: RNA primer

Flashcard 365: The antigen receptors of T lymphocytes have one _ and _ chain (monovalent)

Answer: α

Extra: https://onlinemeded.org/spa/immunology?ref=anki

Flashcard 366: _____ describes the increased severity or earlier onset of a disease in succeeding generations

Answer: Anticipation

Extra: https://onlinemeded.org/spa/genetics?ref=anki

Flashcard 367: _____karyotes' nuclear material sits freely within the cytoplasm

Answer: Pro

Extra: Watch associated Bootcamp video [https://app.bootcamp.com/med-school/microbiology/videos/fundamentals-of-bacteriology?index=2] https://onlinemeded.org/spa/infectious-disease?ref=anki

Flashcard 368: What is the mode of inheritance of Hurler syndrome? _____

Answer: Autosomal recessive

Extra: https://onlinemeded.org/spa/metabolism?ref=anki

Flashcard 369: The signal transducer Ras is normally associated with _____ Receptors in a(n) inactive GDP-bound state

Answer: Growth Factor

Extra: https://onlinemeded.org/spa/surgery-general/pancreas/acquire?ref=anki

Flashcard 370: Are the Bcl-2 related proteins BAX and BAK pro- or anti-apoptotic? _____

Answer: Pro-apoptotic

Extra: https://onlinemeded.org/spa/inflammation-and-neoplasia/apoptosis/acquire?ref=anki

Flashcard 371: - Karyotype of Müllerian Agenesis = _ and ↔ testosterone levels - Karyotype of Androgen Insensitivity Syndrome = _ and ↑ testosterone levels

Answer: XX

Extra: https://onlinemeded.org/spa/gynecology/primary-amenorrhea/acquire?ref=anki

Flashcard 372: 5α-reductase deficiency = _____

Answer: 46XY

Extra: https://onlinemeded.org/spa/obgyn?ref=anki

Flashcard 373: What serum marker is characteristically elevated in choriocarcinoma? _____

Answer: β-hCG

Extra: https://onlinemeded.org/spa/obgyn?ref=anki

Flashcard 374: Chronic myeloproliferative disorders (except CML) are associated with _____ mutations - the mutation is in a gene encoding a(n) tyrosine kinase, which causes tyrosine hyperphosphorylation and hypersensitivity of progenitor cells to cytokines, prolonging cellular growth

Answer: V617F JAK2

Extra: https://onlinemeded.org/spa/hematology-oncology/leukemia/acquire?ref=anki

Flashcard 375: _____

Answer: G

Extra: https://onlinemeded.org/spa/surgery?ref=anki

Flashcard 376: HbH and Hgb Barts = _ thalassemia ↑ HbA2 and ↑ HbF = _ thalassemia

Answer: alpha

Extra: https://onlinemeded.org?ref=anki

Flashcard 377: True or False in relation to sickle cell anemia? a.) HbS decreases Beta -globin interaction with 2,3-diphosphoglycerate b.) HbS impairs oxygen binding to the heme moiety c.) HbS allows hydrophobic interaction among hemoglobin molecules.

Answer: a.) & b.) False, otherwise HbS will have a higher affinity for oxygen or higher affinity for 2,3 BPG. HbS causes partial destruction of the hememolecules that prevent from carry lots of oxygen. c.) True, due to Glu (-) (polar) ---> Val (No charge) (non polar)

Flashcard 378: The following Hemoglobin are associted with: -Hemoglobin C -Hemoglobin F -Hemoglobin H -Hemoglobin S

Answer: Hemoglobin C: (HbC), mutation that cause glutamate to be replaced by Lysine, leads to hemolytic anemia. -HbF: Hemoglobin Fetus, has high affinity to oxygen -HbH: Alpha thalassemia,(Hb Barts) with complete absent of Alpha globin, have really high affinity to oxygen, resembles myoglobin. -HbS: Sickle cell anemia, replacement of glutamate by valine

Flashcard 379: A 2 y/o boy comes with easy bruising. -Parent stated he develops marked bruising & open wounds following minor trauma. -Skin is difficult to suture due to its extreme fragility. -Physical exam: Hyperextensible skin, multiple ecchymoses over the forearms. - Skin biopsy: defect in extracellular processing of collagen. -Which steps of collagen synthesis is most likely impaired in this patient?

Answer: N-terminal propeptide removal or N & C terminal propeptide removal. due to defect in procollagen peptidases (defect in collagen 3 & 5) that lead to Ehlers-Danlos syndrome. (hyperextensible skin, joint laxity, tissue fragility)

Flashcard 380: 6 y/o African American boy comes in by his parents due to easy fatigability. -Physical exam: splenomegaly, CBC: mild anemia. -Hemoglobin electrophoresis for the patient are shown below compared to individuals with normal hemoglobin and know sickle cell disease. What mutation is most likely cause of this patient's condition?

Answer: Missense mutation due to HbC hemolytic anemia Speed on gel electrophoresis: A,S,C HbA: normal HbS: sickle cell anemia HbC: Mild hemolytic anemia.

Flashcard 381: In a research, they isolate small circular DNA that resemble a bacterial chromosome from exocrine panreatic cells.. -Further analysis shows that these molecules code for proteins, transfer RNA, & ribosomal RNA. -From which of the following cellular structures did these DNA molecules most likely originate?

Answer: D.) Mitochondria Key: Mitochondria contains circular DNA chromosomes that resembles bacterial (prokaryotic) chromosomes. Inherited from Mother. Mutation in mitochondrial DNA could cause disease to pass from mother to offsprings. A.) Rough Endoplasmic reticulum: contains multiple ribosomes to synthesize proteins. B.) Nucleolus: site of synthesis of ribosomal components. C.) Nucleus: contains euchromatin (chromosomes) inside of it. E.) Exocrine granules: usually contains enzymes and other proteins package for secretion.

Flashcard 382: 24 y/o woman is diagnosed with gestational diabetes mellitus during her 1st pregnancy. -Mother & younger sister had high blood surgars during pregnancy. -If this patient's gestational hyperglycemia is genetically predisposed, she is most likely to have decreased activity in what enzyme?

Answer: Glucokinase Glucokinase need to phosphorylate glucose to breakdown in glycolysis in order to release ATP to close down the K channel, which lead to influx of Ca that causes release of insulin. due to Maturity Onset Diabetes of the Young (MODY) (hereditary mutation of glucokinase gene) Key: Her mother & her younger sister had diabetes too during their pregnancy, very young.

Flashcard 383: What are the followings associated with? -Cleavage of DNA strands to remove supercoils -Excision of thymine dimers within DNA -Removal of mismatched base pairs during DNA replication -Removal of RNA primer nucleotides -Unwinding of the 2 strands of template DNA (DNA polymerase 1, DNA gyrase, UV-specific endonuclease, helicase)

Answer: Cleavage of DNA strands to remove supercoils: DNA gyrase (topoisomerase 2) -Excision of thymine dimers within DNA: UV-specific endonuclease. -Removal of mismatched base pairs during DNA replication: DNA polymerase 3 (most common), DNA pol 1, DNA pol 2. -Removal of RNA primer nucleotides: DNA polymerase 1 -Unwinding of the 2 strands of template DNA: Helicase

Flashcard 384: What are the two types of DNA mutation that occurs in duchenne muscular dystrophy?

Answer: Frameshift, nonsense mutation.

Flashcard 385: What types of nuclease activity will present in the following enzymes? -DNA polymerase 1 -DNA polymerase 3

Answer: DNA polymerase 1: 5' to 3' exonuclease activity DNA polymerase 3: 3' to 5' exonuclease activity

Flashcard 386: In an experiment, individual bacterial colonies lack a specific enzyme involed in DNA replication. -This specific enzyme is responsible for removing short fragments of RNA that are base paired to the DNA template. -Which enzymes is most likely deficient in this strain of E. coli?

Answer: DNA polymerase 1. because it removes primers & replaced them with DNA nucleotides. ** Key: Don't confuse with Primers. Primers add DNA nucleotide while DNA polymerase 1 removes primers.

Flashcard 387: 34 y/o woman comes for breast examination. -Screening test was performed using Polymerase chain reaction (PCR) to amplify the target of exon. -Gel electrophoresis to assess the size of the exon compared to the wild type allele.What features must be known in order to perform the amplification part of this analysis?

Answer: The nucleotide sequence of the regions flanking the target exon. (which means to attack the target region on each side) (nucleotide sequence of target region + flanking region)

Flashcard 388: A group of investigators is studying the mechanisms involved in cancer pathogenesis. -They find that interaction of a certain growth factor with its receptor leads to the following sequence of event: 1. Binding of growth factor 2. Autophosphorylation of tyrosine residues 3. Activation of phosphoinositide 3-kinase 4. Activation of protein kinase B (Akt) 5. Activation of X What is the most likely direct effect of X upon activation?

Answer: Translocation to the nucleus and gene transcription. due to mTOR pathway (love to stimulate cancer). Several drugs could inhibit this pathway: mTOR inhibitors including rapamycin, sirolimus. They are great chemotherapy against cancers.

Flashcard 389: In an experiment, a protein mixture obtained from a cell culture is separated by gel electrophoresis and subsequently transferred to a filter membrane. -Labeled: Double-stranded DNA probes are used to detect a specific protein of interest in the sample. -What protein is most likely to be detected by this method? a.) Ras b.) C-Jun c.) B1- adrenoreceptor d.) S-100 e.) Adenylate cyclase

Answer: C-jun Other possible answers: c-Fos, or c-Jun & c-Fos because Double stranded DNA probes were use, which means they are using Southwestern blotting technique, (DNA - binding protein).

Flashcard 390: 65 y/o woman with chronic obstructive pulmonary disease & type 2 DM. -She's hospitalized with septicemia. -Cultures shows rapidly dividing gram-negative bacteria. -Replication of theses microbial cells requires synthesis of two daughter strands of DNA using the parents strands as templates. -Which processes will differ the most between the 2 dauther strands formed at each replication fork?

Answer: Joining of DNA fragments by ligase which is specific for lagging strands.

Flashcard 391: What are the following markers? -Ras -c-Jun -B1 - adrenoreceptor -S- 100 -Adenylate cyclase -C-fos

Answer: Ras: Protooncogene activates MAP kinase pathway, affect transcription, has GTPase gene product. (associated with colon, pancreatic, and lung cancer.) -c-Jun: The protein that binds to DNA in southwestern blot (double stranded DNA probe). -B1-adrenoreceptor: Gs protein couple receptor. -Adenylate cyclase: cleaves ATP to form cAMP. -S-100: calcium binding proteins. -c-Fos: Proteins that bind to DNA to form double stranded DNA probe in Southwestern blot.

Flashcard 392: What kind of mutation exits in the following bases? - CUU (leucine) ---> AUU (Isoleucine) - UUU (Phynylalanine) ---> UUC (Phenylalanine) - CAG, CCC, ACT ---> CAG, TCC, CAC,T - CAG, CAG, UAA ---> CAG, CAG, CAA -UCA ----> UGA (Silent, missense, nonsense, nonstop, framshift)

Answer: CUU (leucine) ---> AUU (Isoleucine): missense mutation - UUU (Phynylalanine) ---> UUC (Phenylalanine): Silent mutation - CAG, CCC, ACT ---> CAG, TCC, CAC,T: Frameshift mutation - CAG, CAG, UAA ---> CAG, CAG, CAA: Nonstop mutation - UCA ----> UGA: Nonsense mutation

Flashcard 393: A researcher develops 2 functional mRNA sequences composed of CUC & CUU trinucleotide repeats. -He subsequntly incubates them. -After a few hours, it is found that both mRNA sequences produce polypeptide chains containing leucine repeats. -This observed finding is due to what genetic principles?

Answer: Wobble (wobble hypothesis: which stated that if you have 3 base pairing, 2 of them could match while you could wobble the 3rd one, which means the 3rd one could be a mismatch).

Flashcard 394: What are the followings are associated with? -Proteasome activity -Splicing

Answer: Proteasome activity: proteasome, which degrade nuclear and cytoplasmic proteins. -Splicing: Associates with splisosome, snRNPs to cut introns out of the pre-mRNA. They will cut the noncoding mRNA.

Flashcard 395: HBC disease is caused by a single amino acid substitution (glutamic acid ---> lysine) at position 6 in B-globin chain of Hb molecule. -Patient homozygous for HBC have mild chronic hemolytic anemia. -Those with HbS generally have a more severe condition. -Which properties of HbS best explains why HbS disease is associated with more pronouced clinical manifestations than HbC disease?

Answer: HbS allows hydrophobic interaction among hemoglobin molecules. because of the Glu (-) polar ---> Lysine (no charge) (nonpolar), normally HB tetramer has polirity outside of their surface while nonpolarity hide inside. Since the change of one amino acid will expose nonpolar outside lead to partial destruction of those RBC cells and causes lack of oxygen in the body. Compare to HBC which change from polar (-) Glutamate to another polar (+) Lysine, thus don't present with severe conditions.

Flashcard 396: An infant born appears healthy at birth but develops transfusion-dependent hymolytic anemia by age of 6 months. -His erythrocytes contain insoluble aggregated of hemoglobin subunits. -The child developed normally in utero because at that time he produced high quantities of:

Answer: Y-globin

Flashcard 397: What are the followins in relations to both eukaryotic and prokaryotic DNA? -Continuous synthesis of the lagging strand -Energy-independent DNA unwinding -Multiple origins of replication -No proofreading of daughter strands -No requirement for RNA primers

Answer: Continuous synthesis of the lagging strand: lagging strand is not continuous in both prokaryotic and eukaryotic DNA. -Energy-independent DNA unwinding: They both need energy to unwind DNA by helicase. -Multiple origins of replication: Eukaryotic DNA, to make it effective and fast. -No proofreading of daughter strands: Both need proofreading. -No requirement for RNA primers: They both need a primer in order to begin replication by a primase.

Flashcard 398: Match the following with their specific definition? -Unwinding of double helix -Removal of supercoils -Stabilization of unwound template strands -Synthesis of RNA primer -5' to 3 DNA synthesis & 3' to 5' exonuclease activity -Removes RNA primer -Has 5' to 3' exonuclease activity -Joining of Okazaki fragments -Similar work to DNA polymerase 3 -Connect the lagging strands together.

Answer: Unwinding of double helix: Helicase -Removal of supercoils: DNA gyrase (Topoisomerase 2) -Stabilization of unwound template strands: single stranded DNA binding protein -Synthesis of RNA primer: Primase (RNA polymerase) -5' to 3 DNA synthesis & 3' to 5' exonuclease activity: DNA polymerase 3 -Removes RNA primer: DNA polymerase 1 -Has 5' to 3' exonuclease activity: DNA polymerase 1 -Joining of Okazaki fragments: DNA ligase -Similar work to DNA polymerase 3: DNA polymerase 1, & 2 -Connect the lagging strands together: DNA ligase

Flashcard 399: Lab animals deprived of folic acid experience a marked increase in marrow eythroid precursor cell production. -Many of these erythroid cells undergo apoptosis without further maturation. -Provision of what supplements would reduce erythroid precursor cell apoptosis in these animals?

Answer: Thymidine Due to folate deficiency which leads to megaloblastic anemia. RBC are immature due to lack of DNA synthesis due to folate. Thymidine (Thymidilate synthase) will increase dTMP to help synthesize DNA.

Flashcard 400: An experiement was conducted, DNA polymerase III from E. Coli extracted. -The enzyme possesses 3' to 5' exonuclease activity. What enzymatic actions was most likely observed during the experiment?

Answer: Removal of mismatched base pairs during DNA replication (exonuclease activity) because it has 3' to 5' exonuclease activity.

Flashcard 401: Describe these 2 genetics term? -Transition -Transversion

Answer: Transition: you replaced a purine by a purine, a pyrimidine by a pyrimidine. -Transversion: you replaced a purine by a pyrimidine. A pyrimidine by a purine.

Flashcard 402: 15 y/o boy comes with unexplained erythrocytosis on lab analysis. -Father & sister also have high red cell levels. -Further analysis shows that this mutation impairs the ionic interaction between B-subunit & 2,3-bisphosphoglycerate. -As a result of this mutation, the patient's hemoglobin will be most similar to what hemoglobin types?

Answer: Hemoglobin F because the mutation causes low affinity of HbA to 2,3-BPG, which inhibit 2,3-BPG to bind to HbA, but will increase HbA affinity to oxygen. Thus will resemble HbF due to high affinity to oxygen. Normally, HbA has high affinity to 2,3 BPG. HbF has high affinity to oxygen.

Flashcard 403: A genetic researcher is comparing DNA replication process of prokarotic & eukaryotic cells. -E. Coli and human cells are cultured in separate media containing tagged nucleotides and their rates of DNA replicatin are determined. -Eukarotic DNA is more larger & more complex, but sill occurs in a timely manner. -Which features of eukaryotic replication best explains this obervation?

Answer: Multiple origins of replication. because it's a eukaryotic DNA, make them fast and effective.

Flashcard 404: What are the followilngs are associated with in relation to tRNA? -CCA -Poly-A -Methylguanosine-triphosphate -TATA

Answer: CCA: locates in the 3' end of tRNA molecule -Poly-A: occurs after transcription, it will bind to the 3' cap. -Methylguanosine: It will bind to the 5' cap of mRNA after transcription. -TATA: an upstream promoter. helpful in transcription. TATA binding proteins will bind there during transcription.

Flashcard 405: In which strands will the followings occurs? (leading or lagging strands) -Enzymatic function of DNA helicase -Interaction with single stranded DNA binding proteins -Joining of DNA fragments by ligase -Proofreading of the newly synthesized DNA -Relief of supercoils by topoisomerase

Answer: They all will occur in both leading and lagging strands except for Joining of DNA fragments by ligase which only occurs in the lagging strands.

Flashcard 406: 5 y/o boy comes with progressive muscle weakness that has resulted in numerous recent falls. -Physical exam: Bilateral calf enlargement. -He uses his hands and arms to help push himself to an upright position. -Genetic analysis reveals a point mutation within exon 48 of the gene encoding this muscle protein. -This patient's gene mutation has most likely resulted in which mRNA codon changes?

Answer: UCA --> UGA (Nonsense mutation) in other words any base that lead to a stop codon (.... -> UGA) (.... -> UAG) (.... -> UAA) Nonsense or frameshift mutation

Flashcard 407: What are the speed of the followings in gel eletrophoresis in relation to normal hemoglobin (HbA)? -Framshift mutation -Missense mutation -Nonsense mutation -Silent mutation -Trinucleotide expansion

Answer: Frameshift mutation: involves in Alpha thalassema (Duchenne M. D.). Will contain HbH that will move faster than HbA. -Missense mutation: Most likely occurs in HbC anemia or sickle cell anemia (due to change of amino acids). will occurs slower than HbS, & HbA. -Nonsense mutation: Will create smaller protein due to early stop on translation (duchenne M. D.). They will tend to move faster. -Silent mutation: will not affect protein since they will code for the same amino acid -Trinucleotide expansions: will result in a large proteins, they will move slower than HbA.

Flashcard 408: If a disease has an X-linked recessive inheritance pattern, it usually _____ skip generations

Answer: does

Flashcard 409: If a disease has an X-linked dominant inheritance pattern, there is NO _____ transmission

Answer: male-to-male

Flashcard 410: What protein is defective in Marfan syndrome?_____

Answer: Fibrillin (scaffold for elastin)

Flashcard 411: What is the most common cause (95%) of Down syndrome? _____

Answer: Meiotic nondisjunction

Flashcard 412: Which cell cycle phase is characterized by resting, non-dividing cells?_____

Answer: G0

Flashcard 413: What protein is associated with MHC I? _____

Answer: 2-microglobulin

Flashcard 414: What is the mode of inheritance of Hartnup disease? _____

Answer: Autosomal recessive

Flashcard 415: What is the mode of inheritance of porphyria cutanea tarda?_____

Answer: Autosomal dominant

Flashcard 416: What is the penetrance of achondroplasia? _____

Answer: 100%

Flashcard 417: NF1 is a tumor suppressor gene that encodes for the protein _____

Answer: neurofibromin

Flashcard 418: What is the mode of inheritance of sickle cell anemia? _____

Answer: Autosomal recessive

Flashcard 419: What is the penetrance of neurofibromatosis I? _____

Answer: 100%

Flashcard 420: How do double Y males (XYY) appear phenotypically?_____

Answer: Normal, very tall

Flashcard 421: What is the mode of inheritance of Hunter syndrome?_____

Answer: X-linked recessive

Flashcard 422: What is the mode of inheritance of IL-12 deficiency? _____

Answer: Autosomal recessive

Flashcard 423: What is the mode of inheritance of hemophilia A? _____

Answer: X-linked recessive

Flashcard 424: What form of hemoglobin protects against sickling in sickle cell anemia? _____

Answer: HbF

Flashcard 425: What gene (and its respective gene product) regulates hepcidin synthesis?_____

Answer: HFE

Flashcard 426: _____ are a network of protein fibers within the cytoplasm that support cell structure, cell and organelle movement, and cell division

Answer: Cytoskeletal elements

Flashcard 427: If some individuals who have the disease genotype do not display the disease phenotype, the disease is said to have _____

Answer: incomplete penetrance

Flashcard 428: Which cell cycle phase(s) are part of interphase? _____

Answer: G1, S, G2

Flashcard 429: What is the mode of inheritance of hemophilia B? _____

Answer: X-linked recessive

Flashcard 430: Both Prader-Willi and Angelman syndrome are due to a mutation or deletion of genes on chromosome _____

Answer: 15

Flashcard 431: Is tuberous sclerosis inherited or sporadic? _____

Answer: Inherited

Flashcard 432: What is the mode of inheritance of hemophilia C? _____

Answer: Autosomal recessive

Flashcard 433: Which cell cycle phase(s) are NOT part of interphase? _____

Answer: M

Flashcard 434: 5% of cases of Angelman syndrome are due to _____ uniparental disomy

Answer: paternal

Flashcard 435: What is the mode of inheritance of Marfan syndrome?_____

Answer: Autosomal dominant

Flashcard 436: What is the mode of inheritance of von Hippel Lindau disease? _____

Answer: Autosomal dominant

Flashcard 437: What is the inheritance of pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy)?_____

Answer: Autosomal dominant

Flashcard 438: If a disease has an X-linked recessive inheritance pattern, there is NO _____ transmission

Answer: male-to-male

Flashcard 439: 25% of cases of Prader-Willi syndrome are due to _____ uniparental disomy

Answer: maternal

Flashcard 440: If a male has an X-linked dominant disease, all of his daughters will be _____

Answer: affected

Flashcard 441: If a disease has an X-linked dominant inheritance pattern, it is usually _____ skip generations

Answer: doesn't

Flashcard 442: What is the mode of inheritance of Duchenne and Becker muscular dystrophy? _____

Answer: X-linked

Flashcard 443: What is the mode of inheritance of von Hippel-Lindau disease? _____

Answer: Autosomal dominant

Flashcard 444: What cell type enters G1 from G0 when stimulated?_____

Answer: Stable (quiescent)

Flashcard 445: What is the mode of inheritance of Familial Mediterranean fever? _____

Answer: Autosomal recessive

Flashcard 446: Mutations in which tumor suppressor genes can lead to Tuberous Sclerosis?_____

Answer: TSC1 & TSC2

Flashcard 447: Why is the dystrophin (DMD) gene prone to spontaneous mutations? _____

Answer: Largest protein-coding human gene

Flashcard 448: Which type of gene deletion (cis or trans) is associated with an increased risk of severe thalassemia in offspring? _____

Answer: Cis deletion

Flashcard 449: Which vesicular trafficking protein is responsible for transport between the trans-Golgi and lysosomes? _____

Answer: Clathrin

Flashcard 450: Which enzyme is responsible for making an RNA primer on which DNA polymerase III can initiate replication (prokaryotes)? _____

Answer: Primase

Flashcard 451: Which tumor suppressor protein acts at the G1 check point?_____

Answer: p53

Flashcard 452: Wiskott-Aldrich syndrome is characterized by inability for leukocytes and platelets to reorganize their _____ cytoskeleton

Answer: actin

Flashcard 453: What is the mode of inheritance of achondroplasia? _____

Answer: Autosomal dominant

Flashcard 454: Females with Turner Syndrome due to an (45,XO genotype) are more likely to have what type of concurrent disorders?_____

Answer: X-linked recessive disorders

Flashcard 455: Do patients with -thalassemia due to a three gene deletion have any -globin? _____

Answer: Yes (very little)

Flashcard 456: X-linked recessive diseases are commonly more severe in _____

Answer: males

Flashcard 457: Do mitochondrial DNA utilize histones?_____

Answer: No

Flashcard 458: _____ proteins prevent DNA strands from reannealing during replication

Answer: Single-stranded binding

Flashcard 459: Which enzyme is responsible for removing the RNA primer in eukaryotes? _____

Answer: 5' exonuclease (DNA polymerase I in prokaryotes)

Flashcard 460: Myotonic dystrophy is due to abnormal expression of the enzyme _____

Answer: myotonin protein kinase

Flashcard 461: What is the inheritance of osteogenesis imperfecta (most common)? _____

Answer: Autosomal dominant

Flashcard 462: Where is most of rRNA synthesized?_____

Answer: Nucleolus

Flashcard 463: What is the mode of inheritance of SCID secondary to a defective IL-2R? _____

Answer: X-linked

Flashcard 464: The BMPR2 gene normally inhibits _____ proliferation

Answer: vascular smooth muscle

Flashcard 465: The synthesis of insulin is directed by a gene on chromosome _____

Answer: 11

Flashcard 466: _____ analysis analyzes DNA using variations in restriction enzyme sites between homologous DNA strands

Answer: RFLP

Flashcard 467: _____ are sites where negative regulators (repressors) bind to DNA

Answer: Silencers

Flashcard 468: Cloning: After the recombinant plasmid has been produced, it is transformed into _____

Answer: bacteria

Flashcard 469: Ocular albinism is inherited in a(n) _____ fashion.

Answer: X-linked recessive

Flashcard 470: Which molecular motor protein is responsible for retrograde transport to the microtubule (+ to -)?_____

Answer: Dynein

Flashcard 471: The classical and vascular forms of Ehlers-Danlos syndrome are inherited in an _____ manner

Answer: autosomal dominant

Flashcard 472: Collagen Synthesis: After the triple helix is formed, the procollagen is _____ into the extracellular space

Answer: exocytosed

Flashcard 473: Which vesicular trafficking protein is responsible for transport between the plasma membrane and endosomes (receptor-mediated endocytosis)?_____

Answer: Clathrin

Flashcard 474: What cell cycle phase do DNA and histone synthesis occur?_____

Answer: S phase

Flashcard 475: The first step of cloning is to isolate the eukaryotic _____ of interest

Answer: mRNA

Flashcard 476: Cloning: Isolated mRNA is exposed to reverse transcriptase to produce _____ (lacks introns)

Answer: cDNA

Flashcard 477: _____ is the normal differential expression of an allele depending on parental origin (e.g. only one allele is active)

Answer: Genetic imprinting

Flashcard 478: Which class of histone is found outside the nucleosome and functions to condense the nucleosome together?_____

Answer: H1

Flashcard 479: What chromosome is BCL2 located on? _____

Answer: Chromosome 18

Flashcard 480: If a disease has a mitochondrial inheritance pattern, it can be inherited only from the _____

Answer: mother

Flashcard 481: Holoprosencephaly may be related to mutations in the _____ signaling pathway

Answer: sonic hedgehog

Flashcard 482: Pseudohypoparathyroidism type 1a occurs due to an inherited defect from the _____ due to imprinting

Answer: mother

Flashcard 483: _____ proteins are specific transcription factors that regulate gene expression during development

Answer: Homeodomain

Flashcard 484: Which collagen synthesis pathologies (2) are associated with problems with cross-linking?_____

Answer: Ehlers-Danlos syndrome, Menkes disease

Flashcard 485: Which vesicular trafficking protein is responsible for anterograde Golgi transport (ER to cis Golgi)?_____

Answer: COPII

Flashcard 486: What point mutation is the cause of Factor V Leiden? _____

Answer: Arg506Gln (G -> A point mutation)

Flashcard 487: Which molecular motor protein is responsible for anterograde transport to the microtubule (- to +)?_____

Answer: Kinesin

Flashcard 488: A _____ transgenic mouse has had a gene removed

Answer: knock-out

Flashcard 489: _____ is a powerful diagnostic tool used to amplify a desired fragment of DNA

Answer: Polymerase Chain Reaction (PCR)

Flashcard 490: _____ is the presence of both normal and mutated mtDNA, resulting in variable expression of a mitochondrially inherited disease

Answer: Heteroplasmy

Flashcard 491: The function of collagen is to organize and strengthen the _____

Answer: extracellular matrix

Flashcard 492: Once a steroid hormone has bound its receptor in the cytoplasm or nucleus, the hormone-receptor complex then _____

Answer: dimerizes

Flashcard 493: Once levels of Cyclins reach an appropriate level, these complex with _____ to hyperphosphorylate Rb

Answer: Cyclin-Dependent Kinases

Flashcard 494: Vitamin A exerts its teratogenic effects by interfering with _____ genes

Answer: homeobox

Flashcard 495: Which protein from high-risk HPV strains binds to p53?_____

Answer: E6

Flashcard 496: How can enhancers be far away from the gene it regulates?_____

Answer: DNA will bend to bring enhancer to promoter

Flashcard 497: Which cell cycle phase is characterized by DNA synthesis and replication?_____

Answer: S

Flashcard 498: Topoisomerases relieve DNA _____ that occurs during DNA replication

Answer: supercoiling

Flashcard 499: Cytarabine is a cytotoxic _____ analog

Answer: pyrimidine

Flashcard 500: The intrinsic GTPase activity of Ras can be stimulated by _____

Answer: GTPase Activating Proteins (GAPs)

Flashcard 501: What is the inheritance of classic galactosemia? _____

Answer: Autosomal recessive

Flashcard 502: With H1, the nucleosome exists as _____ nm chromatin

Answer: 30

Flashcard 503: What is the mode of inheritance of cleft lip and palate?_____

Answer: Multifactorial

Flashcard 504: Does a Dot (slot) blot require gel electrophoresis before analysis?_____

Answer: No!

Flashcard 505: Bases of a DNA strand are complementary and held together by _____ bonds

Answer: hydrogen

Flashcard 506: _____ analyze thousands of nucleic acid sequences arranged in grids on glass or silicon

Answer: Microarrays

Flashcard 507: SCID may be caused by mutations in _____ which leads to VDJ recombination defects.

Answer: RAG

Flashcard 508: What is the inheritance of essential fructosuria? _____

Answer: Autosomal recessive

Flashcard 509: What is the mode of inheritance of cystinuria? _____

Answer: Autosomal recessive (1:7000, common)

Flashcard 510: Which prokaryotic polymerase has both 3 to 5' exonuclease activity and 5' to 3' exonuclease activity?_____

Answer: DNA polymerase I

Flashcard 511: Is Autosomal Dominant Tubulointerstitial Kidney Disease (Medullary Cystic Kidney Disease) heritable? _____

Answer: Yes

Flashcard 512: Lac Operon: What is the expression level of the Lac genes in the presence of high glucose and lactose available? _____

Answer: Low (basal) expression

Flashcard 513: What is the most common mechanism of chromosomal aneuploidy? _____

Answer: meiotic nondisjunction

Flashcard 514: Hematopoetic Stem Cells, as well as Interstitial Cells of Cajal, Mast Cells, and Melanocytes all express the _____ receptor

Answer: c-Kit

Flashcard 515: What class of diseases is myotonic dystrophy a part of?_____

Answer: Trinucleotide repeat expansion diseases

Flashcard 516: What is the mode of inheritance of Wiskott-Aldrich syndrome? _____

Answer: X-linked recessive

Flashcard 517: A mutation at a _____ results in a retained intron in the mRNA, leading to a protein with impaired or altered function

Answer: splice site

Flashcard 518: Oculocutaneous albinism is inherited in a(n) _____ fashion.

Answer: autosomal recessive

Flashcard 519: The ABL _____ encodes for a cytosolic Tyrosine Kinase that when stimulated leads to cell division

Answer: proto-oncogene

Flashcard 520: The placental hormone _____ is structurally related the TSH, FSH, and LH family - It contains an identical alpha chain and unique beta chain

Answer: human chorionic gonadotropin (hCG)

Flashcard 521: Without H1, the nucleosome exists as _____ nm chromatin

Answer: 10

Flashcard 522: _____ is the production of a recombinant DNA molecule that is self-perpetuating

Answer: Cloning

Flashcard 523: NF2 is a tumor suppressor gene that encodes for the protein _____

Answer: merlin (schwannomin)

Flashcard 524: DNA/RNA polymerase always read in the _____ direction

Answer: 3' to 5'

Flashcard 525: Lac Operon: What is the expression level of the Lac genes in the presence of high glucose and lactose unavailable? _____

Answer: No expression

Flashcard 526: Microsatellites are repeating sequences of _____ DNA (coding or non-coding)

Answer: non-coding

Flashcard 527: What type of oncogene is ALK?_____

Answer: receptor tyrosine kinase

Flashcard 528: What is the mode of inheritance of the most common subtype of von Willebrand disease? _____

Answer: Autosomal dominant

Flashcard 529: A _____ is a base plus a sugar (ribose or deoxyribose) plus phosphate

Answer: nucleoTide

Flashcard 530: Which type of DNA mutation causes the most severe damage? _____

Answer: frameshift mutations

Flashcard 531: What is the mode of inheritance of neurofibromatosis I and II? _____

Answer: Autosomal dominant

Flashcard 532: Prothrombin 20210 mutation is a point mutation in the _____ region of the gene

Answer: 3' untranslated

Flashcard 533: What is the mechanism that results in malignancy from the N-MYC (MIC-2) oncogene?_____

Answer: amplification

Flashcard 534: What serum markers are characterstically elevated in endodermal sinus (yolk sac) tumor? _____

Answer: alpha-fetoprotein (AFP) and alpha 1 antitrypsin

Flashcard 535: Receptor-associated tyrosine kinases are non-covalently associated with a tyrosine kinase, such as _____

Answer: JAK

Flashcard 536: The TSH receptor on the thyroid follicular cells may be stimulated by _____ in Graves Disease

Answer: TSI (thyroid-stimulating immunoglobulin)

Flashcard 537: Autosomal _____ diseases are often pleiotropic and variably expressive

Answer: dominant

Flashcard 538: If a disease has an autosomal recessive inheritance pattern, it is usually _____ skip generations

Answer: does

Flashcard 539: Generally, the 3' end of DNA or RNA is a _____ group

Answer: hydroxyl

Flashcard 540: Is a glucokinase gene mutation associated with maturity-onset diabetes of the young (MODY)?_____

Answer: Yes

Flashcard 541: Pseudopseudohypoparathyroidism occurs when a defective Gs alpha-subunit is inherited from the _____

Answer: father

Flashcard 542: What type of oncogene is cyclin D1?_____

Answer: cyclin (cell cycle regulator)

Flashcard 543: What sequence of nucleotides is repeated in Friedreich ataxia?_____

Answer: GAA

Flashcard 544: Is the ALAS gene defect in congenital sideroblastic anemia an autosomal or X-linked defect? _____

Answer: X-linked

Flashcard 545: What class of diseases is Friedreich ataxia a part of?_____

Answer: Trinucleotide repeat expansion diseases

Flashcard 546: What is the mode of inheritance of Lesch-Nyhan syndrome? _____

Answer: X-linked recessive

Flashcard 547: _____ strategies in mice involve random insertion or targeted insertion/deletion within a mouse genome

Answer: Transgenic

Flashcard 548: 1% of cases of Down syndrome are due to _____

Answer: mosaicism

Flashcard 549: Which pyrimidine is found in DNA only?_____

Answer: Thymine

Flashcard 550: What is the mode of inheritance of Liddle syndrome? _____

Answer: Autosomal dominant

Flashcard 551: Which enzymes relieve DNA supercoiling during DNA replication?_____

Answer: topoisomerases

Flashcard 552: Which enzyme is inhibited by cytarabine?_____

Answer: DNA polymerase ( and )

Flashcard 553: In women, clonality was historically determined by analysis of _____ isoforms

Answer: Glucose-6-Phosphate Dehydrogenase

Flashcard 554: _____ is a lysosomal storage disease caused by splice site mutations.

Answer: Gaucher disease

Flashcard 555: _____ muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein

Answer: Duchenne

Flashcard 556: All RNA/DNA is _____ charged

Answer: negatively

Flashcard 557: Is achondroplasia typically seen in patients with homozygous or heterozygous mutations?_____

Answer: Heterozygous (homozygous is lethal)

Flashcard 558: What gene is defective in Menkes disease? _____

Answer: ATP7A

Flashcard 559: Edward syndrome presents with _____ estriol

Answer: decreased

Flashcard 560: Constitutive activation of FGFR3 _____ chondrocyte proliferation

Answer: inhibits (inhibit/activates)

Flashcard 561: The _____ is a particular consensus sequence of base pairs in a genome where DNA replication begins

Answer: origin of replication

Flashcard 562: What class of enzymes breaks down DNA in apoptosis?_____

Answer: Endonucleases

Flashcard 563: What type of oncogene is RAS?_____

Answer: GTP-binding protein (signal transducer)

Flashcard 564: Does a uniparental disomy result in euploidy or aneuploidy? _____

Answer: Euploidy

Flashcard 565: Upregulation of _____ prevents chromosomal shortening and cell death in tumors

Answer: telomerase

Flashcard 566: Which hemoglobin type migrates the least far from the negative electrode on electrophoresis? _____

Answer: HbC

Flashcard 567: A _____ mutation occurs when a nucleotide substitution codes for a stop codon

Answer: nonsense

Flashcard 568: Patients with kallmann syndrome most commonly have mutations in the _____ or FGFR-1 genes

Answer: KAL-1

Flashcard 569: What tumour suppressor gene does the E6 protein from Human Papillomavirus (HPV) bind to and inhibit?_____

Answer: p53

Flashcard 570: What class of enzymes cleaves nucleotides in the middle of a DNA strand? _____

Answer: Endonucleases

Flashcard 571: What is the most common mode of inheritance of Alport syndrome? _____

Answer: X-linked dominant

Flashcard 572: What type of probe is used to bind DNA/RNA when using a Southern/Northern blot? _____

Answer: Labeled single stranded DNA / RNA oligonucleotide

Flashcard 573: A _____ is made up of a strand of DNA wrapped nearly twice around two copies of H2A, H2B, H3, and H4

Answer: nucleosome

Flashcard 574: What chromosome is cyclin D1 located on? _____

Answer: Chromosome 11

Flashcard 575: In both Angelman syndrome and Prader-Willi syndrome, the most common abnormality is a gene _____

Answer: deletion

Flashcard 576: One feature of the genetic code is that it is _____: each codon specifies only 1 amino acid

Answer: unambiguous

Flashcard 577: Which tumor suppressor genes are associated with colon cancer?_____

Answer: DCC, APC

Flashcard 578: If two linked genes have a recombination frequency of 15%, approximately how far apart are they?_____

Answer: 15 centiMorgans (cM)

Flashcard 579: Which protein from high-risk HPV binds to Rb (specifically p105-Rb)?_____

Answer: E7

Flashcard 580: What is the mode of inheritance of hypophosphatemic rickets (vitamin D-resistant rickets)? _____

Answer: X-linked dominant

Flashcard 581: Which pyrimidine is found in RNA only?_____

Answer: Uracil

Flashcard 582: What type of oncogene is RET?_____

Answer: Neural growth factor receptor

Flashcard 583: If alleles at two loci are inherited equally as expected by chance, the loci are said to be in _____

Answer: linkage equilibrium

Flashcard 584: Which purine is characterized by no amino group at the 12 o'clock position?_____

Answer: Guanine

Flashcard 585: Mutations in CDK4 can cause Melanoma due to a resultant _____ of the proteins activity

Answer: amplification

Flashcard 586: The most common CFTR gene mutation (cystic fibrosis) results in a misfolded protein that is retained in the _____

Answer: RER

Flashcard 587: The G6PD isoform genes are located on the _____

Answer: X-chromosome

Flashcard 588: What is the mode of inheritance of Tay-Sachs disease?_____

Answer: Autosomal recessive

Flashcard 589: What is the mode of inheritance of Hurler syndrome?_____

Answer: Autosomal recessive

Flashcard 590: Individuals with _____-zygous CCR5 allele mutations display a slower rate of progression of HIV infection

Answer: hetero

Flashcard 591: Which hemoglobin type migrates the second furthest from the negative electrode on electrophoresis? _____

Answer: HbF

Flashcard 592: Which enzyme is responsible for unwinding the DNA template at the replication fork? _____

Answer: Helicase

Flashcard 593: PCR requires the addition of all four _____ for DNA synthesis

Answer: deoxynucleotide triphosphates (dNTPs)

Flashcard 594: Which bases are pyrimidines?_____

Answer: Cytosine, uracil, and thymine

Flashcard 595: Which pyrimidine is characterized by the presence of methyl groups, but no amino group at the 12 o'clock position?_____

Answer: Thymine

Flashcard 596: NF-kB activation pathway: the cascade of NF-kB activation is self limiting, as NF-kB stimulates transcription of more _____

Answer: IkB

Flashcard 597: E6 encoded by HPV promotes proteolysis of _____.

Answer: p53

Flashcard 598: Gel electrophoresis separates fragments on the basis of _____

Answer: size

Flashcard 599: What is the effect of increased G-C content on the melting temperature of a DNA strand?_____

Answer: Increased melting temperature

Flashcard 600: A _____ is a type of DNA mutation in which a purine is mutated into a pyrimidine, and vice versa

Answer: transversion

Flashcard 601: Are the Bcl-2 related proteins Bcl-2 and Bcl-x pro- or anti-apoptotic? _____

Answer: Anti-apoptotic

Flashcard 602: What type of oncogene is KIT?_____

Answer: Stem cell growth factor receptor

Flashcard 603: What class of protein receptor is common to cAMP response element binding (CREB) proteins? _____

Answer: Leucine zipper

Flashcard 604: Apoptosis is mediated by _____, which activate proteases and endonucleases

Answer: caspases

Flashcard 605: A _____ transgenic mouse has had a gene inserted

Answer: knock-in

Flashcard 606: Sickle cell trait results in _____ 50% HbS in RBCs

Answer: <

Flashcard 607: What is the mode of inheritance of Fabry disease?_____

Answer: X-linked recessive

Flashcard 608: Topoisomerase _____ induces breaks in both the positive and negative DNA strands (double stranded breaks)

Answer: II

Flashcard 609: What form of chromatin is transcriptionally inactive and sterically inaccessible? _____

Answer: Heterochromatin

Flashcard 610: Does reverse transcriptase require a primer?_____

Answer: Yes! Because it is a DNA polymerase (RNA dependent DNA polymerase)

Flashcard 611: What type of oncogene is ABL?_____

Answer: Tyrosine kinase (signal transducer)

Flashcard 612: mTOR is a _____

Answer: protooncogene (protooncogene or tumorsuppressor?)

Flashcard 613: The _____ is a Y-shaped region along the DNA template where leading and lagging strands are synthesized

Answer: replication fork

Flashcard 614: The APC tumor suppresor regulates the Wnt signalling pathway by destroying _____ in the absence of a Wnt receptor-ligand interaction

Answer: B-catenin

Flashcard 615: The defective Menkes protein (Menkes disease) leads to decreased activity of the enzyme _____

Answer: lysyl oxidase

Flashcard 616: A _____ is detected with FISH as an extra site of fluorescence on one chromosome relative to its homologous chromosome

Answer: duplication

Flashcard 617: Generally, the 5' end of DNA or RNA is a _____ group

Answer: phosphate

Flashcard 618: One feature of the genetic code is that it is _____: most amino acids are coded by multiple codons

Answer: degenerate/redundant

Flashcard 619: A _____ is a base plus a sugar (ribose or deoxyribose)

Answer: nucleoSide

Flashcard 620: Which cell cycle checkpoint is blocked by hypophosphorylated Rb?_____

Answer: G1 to S

Flashcard 621: Is DNA typically fragmented before analysis?_____

Answer: Yes

Flashcard 622: What is the most common lethal, genetic disease in Caucasians?_____

Answer: Cystic fibrosis

Flashcard 623: What is the mode of inheritance of Huntington disease? _____

Answer: Autosomal dominant

Flashcard 624: What genotype is associated with significant risk for panacinar emphysema and liver cirrhosis (1-antitrypsin)?_____

Answer: PiZZ homozygotes

Flashcard 625: What is the normal allele for 1-antitrypsin? _____

Answer: PiM

Flashcard 626: _____ is chromosomal rearrangment between homologous chromosomes

Answer: Crossover

Flashcard 627: How many ring(s) do pyrimidines have?_____

Answer: One

Flashcard 628: What process is used to repress transposable elements?_____

Answer: DNA Methylation

Flashcard 629: What is the mode of inheritance of Job syndrome? _____

Answer: Autosomal dominant

Flashcard 630: E7 encoded by HPV promotes proteolysis of _____.

Answer: Rb

Flashcard 631: _____ growth factor stimulates cell growth via tyrosine kinases

Answer: Epidermal

Flashcard 632: Bcl2 is an anti-apoptotic molecule that sits on chromosome _____

Answer: 18

Flashcard 633: What form of chromatin is transcriptionally active and sterically accessible? _____

Answer: Euchromatin

Flashcard 634: What form of chromatin do Barr bodies exist as? _____

Answer: Heterochromatin

Flashcard 635: Conversion of dUMP to dTMP via thymidylate synthase requires conversion of methylene THF to _____

Answer: DHF

Flashcard 636: Lac Operon: What is the expression level of the Lac genes in the presence of low glucose and lactose unavailable? _____

Answer: No expression

Flashcard 637: _____ have membrane bound organelles and nuclei

Answer: Eukaryotes (Prokaryotes or Eukaryotes)

Flashcard 638: What class of diseases is characterized by anticipation?_____

Answer: Trinucleotide repeat diseases (e.g. Huntington disease)

Flashcard 639: What is the difference (structurally) between thymine and uracil?_____

Answer: Thymine has a methyl group, uracil does not

Flashcard 640: _____ mosaicism occurs when the mutation is only in egg or sperm cells

Answer: Gonadal

Flashcard 641: Which gene of embryogenesis is involved in patterning along the anteroposterior axis and CNS development?_____

Answer: Sonic hedgehog gene

Flashcard 642: What genetic phenomenon is associated with tuberous sclerosis? _____

Answer: Variable expressivity

Flashcard 643: What gene is defective in X-linked muscular dystrophy (e.g. Duchenne, Becker)? _____

Answer: Dystrophin (DMD) gene

Flashcard 644: The immunoglobulin heavy chain (IgH) sits on chromosome _____

Answer: 14

Flashcard 645: The CCND1 proto-oncogene encodes for the cell cycle regulator _____, which stimulates cell cycle progression.

Answer: Cyclin D1

Flashcard 646: _____ describes the presence of genetically distinct cell lines in the same individual

Answer: Mosaicism

Flashcard 647: Which tumor suppressor genes are associated with tuberous sclerosis?_____

Answer: TSC1, TSC2

Flashcard 648: MEN1 is a tumor suppressor gene that encodes _____, a tumor suppressor protein

Answer: Menin

Flashcard 649: What is the inheritance of Romano-Ward syndrome (a form of long QT syndrome)? _____

Answer: Autosomal dominant

Flashcard 650: What type of oncogene is c-MYC, N-MYC, L-MYC?_____

Answer: Transcription factor (nuclear regulator)

Flashcard 651: DNA/RNA polymerase always build in the _____ direction

Answer: 5' to 3'

Flashcard 652: What class of enzymes cleaves nucleotides at the ends of a DNA strand? _____

Answer: Exonucleases

Flashcard 653: DNA laddering in multiples of 180 BP is a sensitive indicator of _____

Answer: apoptosis

Flashcard 654: What is the mode of inheritance of Rett syndrome? _____

Answer: X-linked dominant

Flashcard 655: Which classes of histones are found as a pair in the nucleosome (4)?_____

Answer: H2A, H2B, H3, H4

Flashcard 656: What genetic phenomenon is associated with malignant hyperthermia? _____

Answer: Incomplete penetrance

Flashcard 657: Which type of DNA mutation causes the least severe damage? _____

Answer: Silent mutations

Flashcard 658: 1-antitrypsin deficiency is due to _____ of the mutated protein

Answer: misfolding

Flashcard 659: A _____ of function mutation converts a proto-oncogene to an oncogene

Answer: gain

Flashcard 660: What is the mode of inheritance of IPEX syndrome? _____

Answer: X-linked

Flashcard 661: Turner syndrome is associated with abnormalities in the _____ gene.

Answer: SHOX

Flashcard 662: What is the mode of inheritance of orotic aciduria? _____

Answer: Autosomal recessive

Flashcard 663: Which pyrimidine is characterized by an amino group at the 12 o'clock position?_____

Answer: Cytosine

Flashcard 664: Both G6PD and the Androgen Receptor are located on which chromosome?_____

Answer: X Chromosome

Flashcard 665: What type of oncogene is CDK4?_____

Answer: cyclin depedent kinase (cell cycle regulator)

Flashcard 666: Mutations in _____ genes cause appendages to be placed in wrong locations

Answer: hox

Flashcard 667: The formation of Barr bodies (X-chromosome inactivation) is also known as _____

Answer: lyonization

Flashcard 668: What sequence of nucleotides is repeated in Fragile X syndrome?_____

Answer: CGG

Flashcard 669: What is the mode of inheritance of alkaptonuria? _____

Answer: Autosomal recessive

Flashcard 670: Which purine is characterized by an amino group at the 12 o'clock position?_____

Answer: Adenine

Flashcard 671: What protein is associated with MHC II? _____

Answer: Invariant chain

Flashcard 672: When in the hypophosphorylated state, Rb sequesters _____, which is necessary for transition to the S phase

Answer: E2F transcription factor

Flashcard 673: What sequence of nucleotides is repeated in myotonic dystrophy?_____

Answer: CTG

Flashcard 674: What is the mode of inheritance of malignant hyperthermia? _____

Answer: Autosomal dominant

Flashcard 675: _____ describes an inheritance in which both alleles contribute to the phenotype of the heterozygote

Answer: Codominance

Flashcard 676: The MYCN (MIC-2) proto-oncogene encodes for the _____ N-myc, which stimulates cell cycle progression

Answer: nuclear regulator (class)

Flashcard 677: What is the most clinically significant mutant allele for 1-antitrypsin? _____

Answer: PiZ

Flashcard 678: If mutations at different loci can produce a similar phenotype, a disease has _____

Answer: locus heterogeneity

Flashcard 679: What is the most common mode of inheritance of chronic granulomatous disease? _____

Answer: X-linked recessive

Flashcard 680: Familial dilated cardiomyopathy is often due to autosomal _____ diseases

Answer: dominant

Flashcard 681: What is the mode of inheritance of Lynch syndrome (HNPCC)? _____

Answer: Autosomal dominant

Flashcard 682: Phosphate groups give DNA a _____ charge

Answer: negative

Flashcard 683: The tau protein that aggregates in Alzheimer's normally functions as a _____-associated protein

Answer: microtubule

Flashcard 684: _____ -rich sequences are found in promoters and origins of replication

Answer: AT

Flashcard 685: The dsDNA sequence reported in databases is the _____ strand, unless specifically stated otherwise

Answer: coding

Flashcard 686: Does a Southern blot require gel electrophoresis before analysis? _____

Answer: Yes

Flashcard 687: What is the inheritance of Jervell and Lange-Nielsen syndrome (a form of long QT syndrome)? _____

Answer: Autosomal recessive

Flashcard 688: The Ig heavy chain genes on chromosome 14 are _____ expressed

Answer: constitutively

Flashcard 689: _____ DNA is DNA spliced together from two sources (usually human gene + bacterial vector)

Answer: Recombinant

Flashcard 690: _____ is a laboratory technique used for specific localization of genes and direct visualization of chromosomal anomalies

Answer: Fluoresence in situ hybridization (FISH)

Flashcard 691: Factor V Leiden is due to a point mutation near the _____ site of factor V

Answer: cleavage

Flashcard 692: If a father has a mitochondrial disease, all his children are _____

Answer: unaffected

Flashcard 693: What is the mode of inheritance of Bruton agammaglobulinemia? _____

Answer: X-linked recessive

Flashcard 694: The 5 to 3' exonuclease activity of prokaryotic DNA polymerase I is to remove the _____

Answer: RNA primer

Flashcard 695: Autosomal dominant diseases are often due to defects in _____ genes

Answer: structural

Flashcard 696: How many primers are needed for polymerase chain reaction (PCR)? _____

Answer: Two (one for the 3' end of each DNA strand)

Flashcard 697: What is the mode of inheritance of Gitelman syndrome? _____

Answer: Autosomal recessive

Flashcard 698: The mitochondrial (intrinsic) pathway of apoptosis occurs via inactivation of _____

Answer: Bcl2

Flashcard 699: What is the inheritance of Menkes disease? _____

Answer: X-linked recessive

Flashcard 700: What is the mode of inheritance of medium chain acyl-CoA dehydrogenase (MCAD) deficiency? _____

Answer: Autosomal recessive

Flashcard 701: _____ is a lysosomal storage disease caused by frameshift mutations.

Answer: Tay-Sachs

Flashcard 702: A mutation in Rb results in constitutively free _____, leading to uncontrolled cell cycle progression

Answer: E2F

Flashcard 703: Is mitochondrial DNA circular or linear?_____

Answer: circular

Flashcard 704: Administration of hydroxyurea can lead to a build-up of _____ or CTP in the cell

Answer: UDP

Flashcard 705: What enzyme and cofactor catalyze conversion of dUMP to dTMP?_____

Answer: Thymidylate synthase (methylene-THF as cofactor)

Flashcard 706: Which replication enzyme is a RNA-dependent DNA polymerase, and thus a major example of reverse transcriptase activity, in humans? _____

Answer: Telomerase

Flashcard 707: Which type of antibody digestion results in 2 monovalent Fab regions and 1 Fc region? _____

Answer: Papain cleavage

Flashcard 708: mitochondrial DNA encodes 22 _____ and 2 rRNAs

Answer: tRNAs

Flashcard 709: What is the mode of inheritance of leukocyte adhesion deficiency? _____

Answer: Autosomal recessive

Flashcard 710: Zellweger syndrome is a result of mutations in _____ genes that encode for peroxins, which are required for normal assembly of peroxisomes

Answer: PEX

Flashcard 711: What is the inheritance of galactokinase deficiency? _____

Answer: Autosomal recessive

Flashcard 712: _____ is a genome editing tool that is derived from bacteria to knock in / out any DNA sequence

Answer: CRISPR/Cas9

Flashcard 713: Mutations in PTEN lead to overactivity of _____ proto-oncogene

Answer: mTOR

Flashcard 714: McCune-Albright syndrome is due to a mutation affecting _____ signaling

Answer: G-protein

Flashcard 715: _____ sex is defined by the sex chromosomes, XY in males and XX in females

Answer: Genetic

Flashcard 716: Growth Factors stimulate G1 phase by increasing the levels of the _____

Answer: Cyclins

Flashcard 717: Are the Bcl-2 related proteins BAX and BAK pro- or anti-apoptotic? _____

Answer: Pro-apoptotic

Flashcard 718: Insulin is packaged in secretory granules of the Golgi apparatus with _____

Answer: C peptide

Flashcard 719: _____ is the highest order of packaging of the chromosome

Answer: Heterochromatin

Flashcard 720: A _____ system can inducibly manipulate genes at specific developmental points (e.g. study a gene whose deletion causes embryonic deaths)

Answer: Cre-lox

Flashcard 721: Which hemoglobin type migrates the furthest from the negative electrode on electrophoresis? _____

Answer: HbA

Flashcard 722: Hemophilia A can arise from a _____ mutation without any family history (20%)

Answer: new (de novo)

Flashcard 723: Collagen is a repeat of a tripeptide following the pattern _____, made by fibroblasts

Answer: Gly-X-Y

Flashcard 724: What is the mode of inheritance of Gaucher disease?_____

Answer: Autosomal recessive

Flashcard 725: What is the function of the H1 class of histones?_____

Answer: Condense/link the nucleosomes together

Flashcard 726: What type of oncogene is HER2/neu (c-erbB2)?_____

Answer: Epidermal growth factor receptor

Flashcard 727: What sequence of nucleotides is repeated in Huntington disease?_____

Answer: CAG

Flashcard 728: What is the mode of inheritance of hereditary hyperbilirubinemias (e.g. Gilbert, Crigler-Najjar, Dubin-Johnson)? _____

Answer: Autosomal recessive

Flashcard 729: The RB tumor suppressor protein is located on chromosome _____

Answer: 13

Flashcard 730: Which end of the DNA strand does the DNA primer bind to during PCR?_____

Answer: 3' end

Flashcard 731: Telomerase is a rare example where _____ activity occurs endogenously in humans

Answer: reverse transcriptase (enzyme)

Flashcard 732: Tumor suppressor genes _____ cell growth

Answer: regulate

Flashcard 733: Which amino acids (2) are the target of protein kinase A and protein kinase C? _____

Answer: Serine, Threonine

Flashcard 734: Slippage in a replicated strand will cause a(n) _____

Answer: insertion

Flashcard 735: If different mutations at the same locus produce the same phenotype, a disease has _____

Answer: allelic heterogeneity

Flashcard 736: A _____ mutation occurs when a nucleotide substitution codes for a different amino acid

Answer: missense

Flashcard 737: What is the inheritance of familial hypocalciuric hypercalcemia (FHH)? _____

Answer: Autosomal dominant

Flashcard 738: Topoisomerase _____ induces breaks in single strands of DNA

Answer: I

Flashcard 739: DNA replication errors lead to _____ mutations

Answer: mismatch base

Flashcard 740: What form of chromatin is highly condensed? _____

Answer: Heterochromatin

Flashcard 741: What type of primer is used in a polymerase chain reaction (PCR)?_____

Answer: DNA primer

Flashcard 742: What is the mode of inheritance of Friedreich ataxia? _____

Answer: Autosomal recessive

Flashcard 743: There is an increased risk of autosomal recessive diseases in _____ families

Answer: consanguineous

Flashcard 744: What is another name for prokaryotic topoisomerase II? _____

Answer: DNA gyrase

Flashcard 745: If a male has an X-linked recessive disease, all of his daughters will be _____

Answer: carriers

Flashcard 746: Cyclin D1 sits on chromosome _____

Answer: 11

Flashcard 747: What form of chromatin is less condensed? _____

Answer: Euchromatin

Flashcard 748: The closer the recombination frequency is to _____%, the closer alleles in a haplotype are to each other

Answer: 0

Flashcard 749: Mutation in the sonic hedgehog gene can cause _____

Answer: holoprosencephaly (specific/head)

Flashcard 750: Sister chromatids are joined together at the end of S phase at the _____

Answer: centromere

Flashcard 751: Which enzyme is responsible for elongating the DNA strand? _____

Answer: DNA polymerase (specifically, DNA polymerase III in prokaryotes)

Flashcard 752: Hemoglobin C disease is caused by a mutation in the _____ chain of hemoglobin

Answer:

Flashcard 753: Elastin is tropoelastin with _____ scaffolding

Answer: fibrillin

Flashcard 754: _____ is the inheritance of 2 copies of a chromosome from one parent and no copies from the other

Answer: Uniparental disomy

Flashcard 755: A _____ mutation occurs when a nucleotide substitution codes for the same amino acid

Answer: silent

Flashcard 756: Androgen insensitivity syndrome is caused by a deficiency of _____ in target tissues of males

Answer: androgen receptors

Flashcard 757: Histones are _____ charged because they have a large quantity of lysine and arginine amino acids

Answer: positively

Flashcard 758: What is the mechanism that results in malignancy from the RAS oncogene?_____

Answer: point mutation

Flashcard 759: Which hemoglobin type migrates the third furthest from the negative electrode on electrophoresis? _____

Answer: HbS

Flashcard 760: X chromosome inactivation (_____) can result in differential expression of G6PD isoforms

Answer: lyonization

Flashcard 761: _____ describes phenotypic variation among individuals with the same genotype

Answer: Variable expressivity

Flashcard 762: What is the mode of inheritance of G6PD deficiency? _____

Answer: X-linked recessive

Flashcard 763: Inosine is a ribose plus a _____

Answer: hypoxanthine

Flashcard 764: What is the mode of inheritence of Pearson syndrome?_____

Answer: mitochondrial

Flashcard 765: Which carbon lacks a hydroxyl group in DNA strands?_____

Answer: 2' carbon

Flashcard 766: IPEX syndrome is due to a genetic deficiency of _____

Answer: FOXP3

Flashcard 767: What chromosome is c-myc located on? _____

Answer: Chromosome 8

Flashcard 768: Cyclin-Dependent Kinases are constitutive and are normally _____

Answer: inactive

Flashcard 769: What tumor suppressor does the E7 protein from Human Papillomavirus (HPV) bind to and inhibit?_____

Answer: Rb (specifically p105-Rb)

Flashcard 770: Is Turner syndrome characterized by the presence of an inactivated X chromosome (Barr body)?_____

Answer: No (45,XO)

Flashcard 771: Which gene of embryogenesis is affected by vitamin A? _____

Answer: Homebox (hox) genes

Flashcard 772: _____ uses a fluorescent DNA/RNA probe to bind to a specific gene of interest on chromosomes

Answer: Fluorescence in situ hybridization (FISH)

Flashcard 773: What class of diseases is Fragile X syndrome a part of?_____

Answer: Trinucleotide repeat expansion diseases

Flashcard 774: Microarrays use a _____ probe, which is hybridized to the chip, and a scanner detects the relative amounts of complementary binding

Answer: labeled DNA/RNA

Flashcard 775: One feature of the genetic code is that it is _____: genetic code is conserved throughout evolution

Answer: universal

Flashcard 776: Sickle cell anemia is caused by a mutation in the _____ chain of hemoglobin

Answer:

Flashcard 777: Which pyrimidine is characterized by no amino group at the 12 o'clock position AND no methyl group(s)?_____

Answer: Uracil

Flashcard 778: Which cell cycle checkpoint is blocked by p53?_____

Answer: G1 to S

Flashcard 779: Once hyperphosphorylated, Rb releases the E2F transcription factor which initates the _____ phase

Answer: S

Flashcard 780: Drugs that block DNA replication often have a modified _____, preventing addition of the next nucleotide ("chain termination")

Answer: 3' OH

Flashcard 781: MUTYH-associated polyposis is an _____ syndrome with multiple colorectal adenomas and an increased risk of colorectal cancer.

Answer: autosomal recessive (inheritance)

Flashcard 782: High levels of -fetoprotein (AFP) are seen in Trisomy _____

Answer: 13 (Patau)

Flashcard 783: Cancers may express _____ to prevent chromosome shortening and cell death

Answer: telomerase

Flashcard 784: The normal ratio of active G6PD isoforms in a sample of any woman's tissue is _____

Answer: 1:1

Flashcard 785: When using blotting procedures, the _____ determines what sequences are detected

Answer: probe

Flashcard 786: The _____ gene is inactivated in pseudohypoparathyroidism but activated in McCune-Albright syndrome.

Answer: GNAS

Flashcard 787: What process is used to genomically "imprint" DNA during embryogenesis?_____

Answer: DNA Methylation

Flashcard 788: A _____ mutation results in a heterozygote in which one allele produces a nonfunctional altered protein that also prevents the normal gene product from the normal allele from functioning

Answer: dominant negative

Flashcard 789: What is the mode of inheritance of Krabbe disease?_____

Answer: Autosomal recessive

Flashcard 790: Does a Northern blot require gel electrophoresis before analysis? _____

Answer: Yes

Flashcard 791: IgA exists as a _____ in circulation

Answer: monomer

Flashcard 792: Are RNA and protein typically fragmented before analysis? _____

Answer: No

Flashcard 793: What type of oncogene is JAK2?_____

Answer: tyrosine kinase

Flashcard 794: The most common type of Charcot-Marie-Tooth (CMT1A) is a duplication of large region of 17p which results in a mutation of _____

Answer: PMP22

Flashcard 795: What is the mode of inheritance of type III familial dyslipidemia?_____

Answer: Autosomal Recessive

Flashcard 796: In females, one of two X-chromosomes is condensed and its genes turned off by _____, forming heterochromatin (lyonization)

Answer: cytosine methylation (specific action)

Flashcard 797: The NF1 tumor suppressor gene normally codes for neurofibromin, a negative regulator of _____

Answer: RAS

Flashcard 798: A _____ is type of DNA mutation in which a purine is mutated to another purine (or pyrimidine to pyrimidine)

Answer: transition

Flashcard 799: What chromosome is Ig heavy chain located on? _____

Answer: Chromosome 14

Flashcard 800: What type of oncogene is PDGFB?_____

Answer: Platelet derived growth factor

Flashcard 801: What two types of variations in DNA are detected when using microarrays? (DNA markers)_____

Answer: - Single nucleotide polymorphisms (SNPs) - Copy number variations (CNVs)

Flashcard 802: What kind of inheritance do patients with androgenetic alopecia exhibit?_____

Answer: Polygenic

Flashcard 803: Which type of antibody digestion results in 1 bivalent Fab region and 1 Fc region? _____

Answer: Pepsin cleavage

Flashcard 804: Is DNA synthesis high or low fidelity? _____

Answer: High

Flashcard 805: Is adrenoleukodystrophy an X-linked or autosomal defect?_____

Answer: X-linked

Flashcard 806: Addition of _____ will degrade any naked DNA present in a culture medium, inhibiting any bacterial transformation

Answer: DNAase

Flashcard 807: What enzyme is targeted by anti-Scl-70 antibodies? _____

Answer: DNA topoisomerase I

Flashcard 808: _____ describes the increased severity or earlier onset of a disease in succeeding generations

Answer: Anticipation

Flashcard 809: What class of DNA mutations are characterized by a single nucleotide change? _____

Answer: Point mutations

Flashcard 810: _____ are a laboratory technique used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments

Answer: Microarrays

Flashcard 811: Do patients with -thalassemia due to a four gene deletion have any -globin? _____

Answer: No

Flashcard 812: _thalasemmia is usually due to gene _

Answer: mutations

Flashcard 813: What class of diseases is Huntington disease a part of?_____

Answer: Trinucleotide repeat expansion diseases

Flashcard 814: How many ring(s) do purines have?_____

Answer: Two

Flashcard 815: What process is used embryologically to cause "Lyonization"_____

Answer: DNA Methylation

Flashcard 816: Which class of histone is not found as a pair in a nucleosome? _____

Answer: H1

Flashcard 817: What protein in hemidesmosomes binds to fibronectin, laminin, or collagen in the basement membrane? _____ *bonus-Ca2+ dependent? Y/N

Answer: Integrin

Flashcard 818: If a mother has a mitochondrial disease, all her children are _____

Answer: affected

Flashcard 819: Primary lactase deficiency occurs due to absence of the _____ allele

Answer: lactose-persistent

Flashcard 820: What type of oncogene is BRAF?_____

Answer: serine/threonine kinase

Flashcard 821: The _____ subunits of the anterior pituitary hormones TSH, FSH, and LH are different and are responsible for the unique biologic activity of each hormone

Answer:

Flashcard 822: _____ is a mutation that may occur spontaneously or due to heat or nitrates

Answer: Deamination (e.g. cytosine to uracil)

Flashcard 823: Which enzyme is responsible for relaxing the DNA strand by creating single- or double-stranded breaks in the DNA helix to add/remove supercoils? _____

Answer: Topoisomerase

Flashcard 824: What type of gene is the BTK gene?_____

Answer: Tyrosine kinase

Flashcard 825: If a disease has an autosomal dominant inheritance pattern, it is usually _____ skip generations

Answer: doesn't

Flashcard 826: What is the mode of inheritance of cystic fibrosis? _____

Answer: Autosomal recessive

Flashcard 827: What is the mode of inheritance of Fragile X syndrome?_____

Answer: X-linked dominant

Flashcard 828: The _____ family of hormones includes: 1. ACTH 2. Melanocyte-stimulating hormone (MSH) 3. Gamma and beta-lipotropin 4. Beta-endorphin

Answer: ACTH

Flashcard 829: _____ describes the contribution of one gene to multiple phenotypic effects

Answer: Pleiotropy

Keywords: Molecular Genetics flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards

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DNA structure and organization

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Chromosomal structure

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DNA replication

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Cell cycle and mitosis

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Meiosis and genetic recombination

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Mutation types and consequences

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Mendelian inheritance patterns

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Non-Mendelian inheritance

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Genetic linkage and mapping

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Population genetics principles

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Genetic polymorphisms

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Gene therapy approaches

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Molecular Genetics — Flashcards

Molecular Genetics — Flashcards

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