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Genetics Exam Practice Questions
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Genetics Exam Practice Questions
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25 Questions

1. Thymic Aplasia (DiGeorge Syndrome)

2. Nucleosomes are arranged in a secondary helical chromatin structure: a ____ diameter cylindrical ____

3. ____ requires “multiplex families” (>2 affected members)

4. Characteristics of imprinted genes (3)

5. Most commonly used marker types:

6. Idealized Assumptions in Hardy-Weinberg Equilibrium

7. Mostly caused by deletions of one or both copies of the α-globin gene in the α-cluster. Thus, γ- and β-globin are in excess. Affects the formation of both fetal and adult hemoglobins.

8. A proteinaceous structure called the ____, promotes inter-homolog interactions.

9. CYP2D6 substrates

10. A disease is ____ when the gene codes for an inducer of growth or development and whose function depends only on its amount; such a mechanism occurs in ____ a Sonic Hedgehog mutation

11. Thalassemias in Africa – ____

12. Types of genes (3)

13. Important Point: While most CYP genes are important in the rate of ____ of a drug, in some cases the CYP gene(s) is required to ____ a drug. The classic example of this is ___ activity being necessary to convert codeine to morphine

14. Most trisomies are compatible with at least some fetal development, but often result in ____.

15. ___ is caused by a defective α subunit; only HexA activity is affected. ___ is caused by a defective β subunit; both HexA and HexB activities are affected.

16. Marfan Syndrome - a ____ disorder characterized by musculoskeletal, cardiovascular, and ocular disorders. A mutated fibrillin gene on chromosome 15, leads to defective 10nm microfibrils. Reduced ____ is typical.

17. Paracentric inversions ____

18. ____: a chromosome in which one arm is missing and the other duplicated in a mirror-image fashion, possibly occurring through an exchange involving one arm of a chromosome and its homolog at the proximal edge of the arm, adjacent to the centromere.

19. In 98% of cases, PKU is caused by defects in ____

20. Sites of mutation – There are many sites where mutations can occur in our genome. These include ____

21. ____ Characteristic facies, severe mental retardation Congenital malformations – holoprosencephaly, facial clefts, polydactyly, renal anomalies

22. The most common example is a translocation involving chromosomes 14 and 21, karyotype ___, XX or XY ____.

23. Medium - long band length (mitogen stimulated 450-650bands/haploid)

24. ____ repeats are found near the centromeric regions and may be important in segregation

25. ____ Tall stature, hypogonadism, elevated frequency of gynecomastia, high frequency of sterility, language impairment

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