Molecular Genetics — Flashcards

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:

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

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)

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

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?

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?

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?

What are the followings are associated with? -Proteasome activity -Splicing

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

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.