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LOYOLA COLLEGE (AUTONOMOUS), CHENNAI 600 034 M.Sc.DEGREE EXAMINATION BIOTECHNOLOGY SECONDSEMESTER APRIL 2017
16PBT2ES01- HUMAN GENETICS
Date: 28-04-2017 Dept. No. Max. 100 Marks
01:00-04:00 PART A Answer ALL the Questions I. Choose the correct answer (5x1 5 Marks)
1. Identify the cause of Turner's syndrome.
Aneuploidy Point mutation Non sense Missense
2. What is the carrier frequency of cystic fibrosis?
1/25 1/50 1/75 1/100
3. Choose the enzyme involved in drug metabolism.
Cytochrome P450 Amylase Lipase Caspase
4. Which disease is caused by CAG repeat expansion in the gene?
Cystic fibrosis Alzheimer Diabetes Huntington's
5. Hair samples can be best analyzed using which marker DNA?
mt DNA X Chr Y Chr Autosomal II. State whether the following are true or false, if false, give reason (5x1=5 Marks)
6. Isochromosomes are formed by the longitudinal division of chromosome.
7. Diabetes is a multifactorial disorder.
8. Adeno-associated virus is used for gene therapy.
9. Maternal serum can be used for the prenatal screening of Down syndrome.
10. The size of human Y chromosome is 45 Mb.
III. Complete the following 5 Marks)
11. of human genome is coding.
12. The number of exons present in DMD gene are
13. SCID stands for
14. Chorionic Villus Sampling is done during weeks of pregnancy.
15. Russian Tsar DNA was analyzed by DNA marker.
IV. Answer the following within 50 words (5x1 5 Marks)
16. Define missense mutation.
17. Cite a multifactorial disorder and how is it caused?
18. What is pharmacogenetics?
19. What is the purpose of prenatal diagnosis?
20. Mention the use of a haplotype.
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PART B Answer the following each within 500 words. (5x8 40 Marks) Draw diagrams and flowcharts wherever necessary
21. Illustrate the formation of Philadelphia chromosome.
OR Discuss Robertsonian translocation with an example.
22. (a)Enumerate the various applications of Genetics in Medical practice.
OR Give the logic involved in positional cloning strategy.
23. Discuss gene augmentation therapy used for correcting autosomalrecessive disorders.
OR What are the various tests a donor has to undergo for organ transplantation.
24. Mention the indicators of genetic counseling. OR
Discuss the indications for invasive prenatal diagnosis
25. What are the ethical considerations of chromosome X testing?
OR Enumerate the advantages and limitations of Y chromosomal markers PART C Answer any TWO of the following, each within 1500 words. x20 40 Marks) Draw diagrams and flowcharts wherever necessary.
26. Describe the genetics of Duchenne and Becker Muscular Dystrophies.
27. Discuss stem cell therapy.
28. Explain various non-invasive techniques involved in prenatal diagnosis.
29. Explain
How mitochondrial DNA analysis is done using sample and reference DNA.
ii) Various repetitive elements in human genome.