Human genetics – pedigree analysis, karyotypes, genetic disorders - One Line Questions

1. Human somatic cells typically have how many chromosomes? — 46
2. What is the chromosomal abnormality associated with Turner syndrome? — 45, X
3. In a pedigree chart, what symbol typically represents a male individual? — A square
4. What is a karyotype? — A photograph of an individual's complete set of chromosomes, arranged in homologous pairs.
5. What is an autosome? — Any chromosome that is not a sex chromosome.
6. Which of the following is a hallmark of X-linked recessive inheritance? — More males are typically affected than females.
7. In X-linked dominant inheritance, an affected father will pass the trait to: — All of his daughters
8. A diamond shape in a pedigree chart usually represents: — An individual whose sex is unknown or not relevant
9. What is a Barr body? — An inactivated X chromosome in females.
10. What is the term for genetic disorders that affect the blood's ability to clot? — Coagulopathies
11. 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? — Autosomal recessive
12. Cystic fibrosis is inherited in what manner? — Autosomal recessive
13. Hemophilia is a classic example of which type of genetic disorder? — X-linked recessive
14. The inheritance pattern where a trait is passed from an affected mother to all her children (both sons and daughters) is characteristic of: — Mitochondrial inheritance
15. Which mode of inheritance is characterized by the trait appearing in every generation and affecting males and females equally? — Autosomal dominant
16. Huntington's disease is an example of which mode of inheritance? — Autosomal dominant
17. Which pair of chromosomes determines the biological sex of an individual in humans? — The sex chromosomes (X and Y)
18. A change in a single base pair of DNA is called a: — Gene mutation
19. Sickle cell anemia is an example of which type of genetic disorder? — Chromosomal abnormality
20. Down syndrome is caused by trisomy of which chromosome? — Chromosome 21
21. Edwards syndrome is associated with trisomy of which chromosome? — Chromosome 18
22. Patau syndrome is caused by trisomy of which chromosome? — Chromosome 13
23. A genetic disorder that primarily affects the nervous system and is characterized by the breakdown of nerve cells is: — Tay-Sachs disease
24. Which of the following is a consequence of a mutation in the HBB gene, leading to abnormal hemoglobin? — Sickle cell anemia
25. What is the primary characteristic of Marfan syndrome? — Abnormal connective tissue development
26. What is the primary defect in individuals with Tay-Sachs disease? — Accumulation of gangliosides in nerve cells
27. A karyotype showing 47, XXY indicates which condition? — Klinefelter syndrome
28. What is the term for the complete set of chromosomes in a cell, arranged in order of size and type? — Karyotype
29. What does the '2n' notation represent in genetics? — Diploid number of chromosomes
30. Which genetic disorder causes progressive deterioration of muscle tissue? — Duchenne muscular dystrophy
31. What is the term for a change in the DNA sequence of a gene? — Mutation
32. Which condition is characterized by the absence of an X chromosome in females? — Turner syndrome
33. Which genetic disorder results from a mutation in the dystrophin gene, leading to progressive muscle degeneration? — Muscular dystrophy (Duchenne type)
34. A female with Turner syndrome (45, X) typically presents with: — Underdeveloped sexual characteristics and sterility
35. A vertical line descending from a mating line in a pedigree chart leads to: — Offspring
36. What term describes the condition where an individual has a mixture of cells with different chromosome numbers? — Mosaicism
37. A karyotype is prepared from which type of human cells? — Somatic cells (e.g., white blood cells)
38. The genetic disorder caused by a mutation in the CFTR gene leads to: — Thick, sticky mucus buildup
39. Which of the following is NOT a typical feature of Klinefelter syndrome (47, XXY)? — Short stature
40. Which of the following is a common characteristic of individuals with Down syndrome? — Intellectual disability and distinctive facial features
41. In pedigree analysis, a horizontal line connecting a male and female symbol indicates: — Marriage or mating
42. In pedigree analysis, a double line connecting a male and female symbol indicates: — Consanguineous mating (mating between relatives)
43. Which genetic disorder is characterized by a deficiency in the enzyme phenylalanine hydroxylase? — Phenylketonuria (PKU)
44. If a trait is X-linked recessive, and an unaffected mother has an affected son, what must be true about the father? — The father must be unaffected.
45. What does the Roman numeral 'I' typically represent in a pedigree chart? — The parental generation.
46. What does a shaded symbol in a pedigree chart indicate? — The individual is affected by the trait being studied.
47. What does the 'haploid' number of chromosomes (n) represent? — The number of chromosomes in a gamete (sperm or egg).
48. What is the primary purpose of pedigree analysis in human genetics? — To trace the inheritance of genetic traits or disorders through generations.
49. A person with a karyotype of 47, XXX is said to have: — Triple X syndrome
50. Which of the following is a common method for obtaining cells for karyotype analysis? — Blood sample
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