Molecular Genetics — Flashcards

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

Answer: XX

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Flashcard 372: 5α-reductase deficiency = _____

Answer: 46XY

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

Answer: β-hCG

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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

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Flashcard 375: _____

Answer: G

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

Answer: alpha

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Flashcard 377: 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 378: 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 379: 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 380: 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.