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Genetics Exam Practice Questions
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Genetics Exam Practice Questions
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1. ____ plays a role in heme biosynthesis and the formation of Fe-S clusters that function as a ferritin-like molecule.

2. Although ____ result from virtually every type of mutation, one ____ common to Sardinia results from a nonsense mutation at amino acid 39. Synthetic DNA19-mers surrounding the base change in the ____ gene have been used to identify carriers and affected fetuses in amniotic fluid cellular DNA at 16wks of gestation.

3. Complex Traits characteristics (4)

4. ____ occurs if only one sex can express a phenotype (e.g. unicornuate uterus).

5. ____ refers to when the choice of mate is dependent (in part) on a particular trait (or sometimes a disease). This occurs because people tend to choose mates who resemble themselves for (language, intelligence, height, skin color, etc.).

6. CYP3A Inhibitors

7. Marfan's Syndrome

8. Genetic sex is determined in humans by the presence or absence of _____

9. Two Fatal Flaws in Gene-by-Gene Case-Control Design

10. _____: Once a single base mutation causing a disease is identified by DNA sequencing, then small oligo spanning the point mutation, containing either the normal allele sequence or the mutant sequence can be used to directly assess for these alleles.

11. Clearly, the molecular mechanisms for triplet expansion are not fully understood, but in many cases probably involve ____ formation during discontinuous DNA replication on the ____.

12. Example of incomplete penetrance in a complex trait

13. Sertoli cells produce a peptide hormone called ____ that is also called ____ or Mullerian Inhibitory Substance (MIS)

14. Types of genes (3)

15. Thymic Aplasia (DiGeorge Syndrome)

16. Ataxia-Telangiectasia

17. Significance level: LOD >3.0 for ____ trait LOD>3.3 for ____ trait

18. Advantages of gene therapy approaches: adenoviral

19. The CYP families (CYP1, CYP2, CYP3) are particularly active including six genes (___, ___, ___, ___, ___, and ___) that are involved in the Phase I metabolism of ___ of all commonly used medications.

20. ___: SNPs that ‘tag’ specific haplotype blocks

21. Most commonly used marker types:

22. Autosomal dominant disorders are often ____; therefore, significant heterogeneity of mutant alleles is seen.

23. Thalassemias in Africa – ____

24. Because most catalytic proteins are present in excess, most enzymatic genetic diseases are ____

25. While curing genetic diseases remains challenging, many genetic diseases are amenable to some level of treatment/management

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