Human genetics – pedigree analysis, karyotypes, genetic disorders - Question Bank
1. In pedigree analysis, a double line connecting a male and female symbol indicates:
2. Which of the following is a common method for obtaining cells for karyotype analysis?
3. What does the 'haploid' number of chromosomes (n) represent?
4. A female with Turner syndrome (45, X) typically presents with:
5. Which genetic disorder causes progressive deterioration of muscle tissue?
6. The inheritance pattern where a trait is passed from an affected mother to all her children (both sons and daughters) is characteristic of:
7. What is the term for the complete set of chromosomes in a cell, arranged in order of size and type?
8. Which of the following is a consequence of a mutation in the HBB gene, leading to abnormal hemoglobin?
9. What is the term for genetic disorders that affect the blood's ability to clot?
10. A genetic disorder that primarily affects the nervous system and is characterized by the breakdown of nerve cells is:
11. Which of the following is NOT a typical feature of Klinefelter syndrome (47, XXY)?
12. What is the primary characteristic of Marfan syndrome?
13. Patau syndrome is caused by trisomy of which chromosome?
14. Edwards syndrome is associated with trisomy of which chromosome?
15. What term describes the condition where an individual has a mixture of cells with different chromosome numbers?
16. A karyotype is prepared from which type of human cells?
17. If a trait is X-linked recessive, and an unaffected mother has an affected son, what must be true about the father?
18. A diamond shape in a pedigree chart usually represents:
19. What does the Roman numeral 'I' typically represent in a pedigree chart?
20. A vertical line descending from a mating line in a pedigree chart leads to:
21. In pedigree analysis, a horizontal line connecting a male and female symbol indicates:
22. The genetic disorder caused by a mutation in the CFTR gene leads to:
23. A person with a karyotype of 47, XXX is said to have:
24. Which condition is characterized by the absence of an X chromosome in females?
25. What is a Barr body?
26. A change in a single base pair of DNA is called a:
27. What is the term for a change in the DNA sequence of a gene?
28. Which genetic disorder results from a mutation in the dystrophin gene, leading to progressive muscle degeneration?
29. What is the primary defect in individuals with Tay-Sachs disease?
30. Hemophilia is a classic example of which type of genetic disorder?
31. Huntington's disease is an example of which mode of inheritance?
32. Which genetic disorder is characterized by a deficiency in the enzyme phenylalanine hydroxylase?
33. Cystic fibrosis is inherited in what manner?
34. Sickle cell anemia is an example of which type of genetic disorder?
35. Which of the following is a common characteristic of individuals with Down syndrome?
36. Down syndrome is caused by trisomy of which chromosome?
37. What is the chromosomal abnormality associated with Turner syndrome?
38. A karyotype showing 47, XXY indicates which condition?
39. Which pair of chromosomes determines the biological sex of an individual in humans?
40. What is an autosome?
41. What does the '2n' notation represent in genetics?
42. Human somatic cells typically have how many chromosomes?
43. What is a karyotype?
44. In X-linked dominant inheritance, an affected father will pass the trait to:
45. Which of the following is a hallmark of X-linked recessive inheritance?
46. If a genetic disorder appears in a family only when an individual inherits two copies of the mutated gene, what is the likely mode of inheritance?
47. Which mode of inheritance is characterized by the trait appearing in every generation and affecting males and females equally?
48. What does a shaded symbol in a pedigree chart indicate?
49. In a pedigree chart, what symbol typically represents a male individual?
50. What is the primary purpose of pedigree analysis in human genetics?