Human Genetics — DU B. Sc. (Hons) Biomedical Previous Year Question Papers

2. Attempt five questions in all. 4. Give illustrations and examples wherever required. 5. (Subparts of the questions should be attempted together). Q 1. (a) Deflne the following (any three): (b) State whether TRUE or FALSE and justify (any three) (3 x 2 = 6) Sex-influenced traits are controlled by the genes present on a]]osomes. Consanguinity increases the risk of dominant disorders. Mutations do not affect Hardy-vyeinberg equilibrium. UPD involves inheritance of diploid chromosome from one parent only. (c) Commentonanytwo: i. Effects of consanguinity. ii. Linkage disequilibrium iii. Effects of genetic polymoxphism in drug metabolism gene Q 2. (a) Describe the history of human genetics, highlighting contributions of Francis Galton and Archibald Garrod. (6) (b) Why is prenatal djagnos;s important? Elaborate any one invasive method of prenatal diagnosis. (6) (c) How is retinoblastoma.different from color blindness? (6) Q 3. (a) How is the hierarchical approach of sequencing human genome different from Q4. Explain in detail i. Vectors used for sequencing the human genome ii. DNA fingerprinting Q 5. (a) How will the sequencing gels of the following fragment look like in Maxim- Gilbert and Sanger's sequencing method? In what ways are these two sequencing methods different from one another? (9) (b) How are autosomal dominant and autosomal recessive traits different from one another? Explain with the help of representative pedigrees. (9) Q 6. (a) A population of wild cats can be either black or white; the black allele (8) has complete dominance over the white allele (b). Given a population of I,000 wild cats, 840 black and 160 white, determine: allele frequency, the frequency of individual`s per genotype, and number of individuals per genotype. (a) The next generation of cats has a total population of 800 cats, 680 black and 120 white. Is the population in Hardy- Weinberg Equilibrium? (9) (b) Plasmid pRIT45l was cut with Sinal, 8g111, and Aval. From the data below, determine the restriction map of the plasmid. (9) Sinal+BglII 5.4 Sinal+Aval 3.3 Aval+BglII 5.3