GENETICS & IEM : DNB Theory Questions

23 September 2012, 15:31

Dr. Tushar Maniar


GENETICS & IEM : DNB Theory Questions

GENETICS & IEM : DNB Theory Questions









These are Questions on GENETICS & IEM asked in DNB Theory Exams. They are arranged topic wise till 2011.

1 write briefly   about glucose metabolism in body. Describe briefly glycogen storage   disorders. metabolic   disorders 2004
2 Laboratory   screening tests for metabolic disorders metabolic disorders 2006
3 Classify   metabolic acidosis based on anion gap. Mention the various causes of lactic   acidosis. Describe the approach to diagnose of inborn error of metabolism in   infant. metabolic disorders 2008
4 Discuss   the enzyme replacement therapy and substrate reduction strategies in   management of metabolic disease. metabolic disorders 2008
5 provide   a diagrammatic representation of urea cycle. Indicate and name related   disorders of urea cycle metabolism at each step. metabolic disorders 2008
6 the   possible conditions which couls result in a 24 month old child with history   of regression of milestones over the past 8 months. He also has hepatomegaly.   Detail the clinical manifestations of Tay Sach disease. metabolic disorders 2008
7 discuss   the methods of detection of congenital malformation in foetus and their   prevention geneitics 1995
8 SN   genetic counseling in a case of Down’s syndrome genetics 1999
9 SN   prenatal diagnosis of Down’s syndrome and Duchenne muscular dystrophy genetics 2002
10 Briefly   discuss the principles of genetic counselling. Outline the counseling of a   family with a child with Down’s syndrome genetics 2004
11 Gene   therapy in children genetics 2006
12 Describe   the symbols used in pedigree chart. Draw pedigree charts over 4 generations   depicting X linked dominant and X linked recessive disease. genetics 2008
13 Enumerate   and describe the structural abnormaities of autosomes. Illustrate with   suitable examples. genetics 2008
14 What   are trisomies? What are predisposing factors? Discuss the clinical features   of 3 common trisomies seen in clinical practice. genetics 2008
15 A   couple has a child with Down syndrome. Outline the principles of genetic   counselling and antenatal management of subsequent pregnancy. genetics 2009
16 SN  Gene therapy genetics 2007
17 What   are mithochondrial genes? How are they transmitted? Briefly discuss diseases   transmitted by them? genetic Dec.11 2+2+6
18 What   are mutations ? Describe their consequences. genetic June.10 5+5
19 Discuss   the genotypic & phenotypic features of Turner’s syndrome. Genetic June.11 4+6
20 Enlist   the inborn errors of metabolism (IEM) with their associated peculiar odour.   Provide the investigative approach for an infant with suspected IEM. Describe   the treatment of phenylketonuria. IEM Dec.2009 4+4+2
21 Outline   the characteristic features of primary immunodeficiency. Write in detail   about pathogenesis & clinical features of chronic granulomatous disease. immunodefi June.11 4+3+3
22 Enlist   the humoral immunodeficiency disorders. Outline the diagnostic approach &   treatment. Immunodeficiency June.10 4+6


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