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Genetics Exam Practice Questions
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Genetics Exam Practice Questions
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1. The importance of the ____ procedure is that it permits an ascertainment of the inheritance of a gene, even when the nature of the defect or the normal gene product is unknown.

2. ____: not everyone with predisposing variant develops disease

3. Often A.D. disorders involve ____ protein defects (Osteogenesis Imperfecta)

4. The mullerian duct is also called the ____ by anatomists.

5. If a crossover occurs within the inverted region of a paracentric inversion, both ____ bridges and ____ chromosomes can be generated, leading to chromosome breakage or loss.

6. Congenital Fructose Intolerance

7. The major use of Hardy-Weinberg in medical genetics is in genetic counseling for ____ disorders.

8. Homocystinuria

9. Example of incomplete penetrance in a complex trait

10. Dietary restriction intervention for metabolic disorders technique and disease (2)

11. In addition to testosterone, a number of genes located on the Y chromosome near SRY also participate in ____ and function.

12. ____: The likelihood of manifesting the disease in mutation carriers is dependent on age. This is observed in many adult-onset conditions.

13. Paternal age effect is seen in some A.D. disorders such as ____, ___ and ____ syndromes, where there is a 2-3 fold increased frequency with fathers over 39 years old.

14. ____: the centromere is near one end of the chromosome, with the stalk containing high amounts of genes coding for rRNA.

15. Chromosome analysis is useful for identifying ____, like trisomy 21

16. Genital tubercle > Glans and shaft of ____ and ____

17. Mendelian, or ‘____’, inheritance refers to disorders that are due to the predominant effects of a ____.

18. Less Restrictive Genetic Test Examples: ____ (eg amino aids, organic acids as in phenylketonuria), ____ (Gaucher disease), ____ (sickle cell disease), ____ (familial hypercholesterolemia), ____ (achondroplasia), ____ (polycystic kidney disease, hypertropic cardiomyopathy), ____ (cystic fibrosis), ____ (albinism), medical history, family history

19. centromere probe (cen) used for: ____

20. ____ or ____ describes the conditions expressed in individuals who are heterozygous of HbS/HbA and HbC/HbA, respectively. They are clinically normal except when under severe low pO2 stress.

21. Advantages of gene therapy approaches: adenoviral

22. In balanced X;autosome translocations the ____ is preferentially inactivated, and the two parts of the translocated autosomal chromosome remain active; probably reflecting selection against cells in which autosomal genes have been inactivated.

23. Types of genes (3)

24. ____ refers to the study of allele frequencies and changes in allele frequencies in populations.

25. Triploidy (69 chromosomes) and tetraploidy (92 chrom) are always ____

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