Download DNB 2017 Dec MED GENETICS MED GENETICS PAPER I Question Paper

Download Diplomate in National Board (DNB) 2017 Dec MED GENETICS MED GENETICS PAPER I Previous Question Papers

TIME
FINAL EXAM NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2017
MEDICAL GENETICS
PAPER-I
GENE/D/17/53 /|
: 3 HOURS
MAX. MARKS : 100
Attempt all questions in order.
Each question carries 10 marks.
Read the question carefully and answer to the point neatly and legib/y.
Do not leave any blank pages between two answers.
Indicate the question number correctly for the answer in the margin space
Answer all the parts of a single question together.
Start the question to a question on a fresh page or leave adequate space between two answers.
Draw table/diagrams/flowcharts wherever appropriate.
Write Short notes on:
1.
a) What are the different conventional cytogenetic techniques? 3+5+2
b) Name some molecular cytogenetic techniques with brief
description of each
c) What are the advantages of MLPA (Multiplex Ligation-
dependent Probe Amplification) and its limitations?
a) What is Universal New-born Screening (NBS)? 1+4+5
b) Which disorders do you think should be included in Universal
NBS and why?
0) What are the basic laboratory techniques used for NBS for
metabolic disorders?
a) What is multifactorial inheritance? 2+4+4
b) Name some disorders included in this group with genetics of
each.
0) Role of GWAS (Genome-wide association studies) in genetic
disorders
a) How do you recognize X-Iinked recessive disorders from a
pedigree? 3+3+4
b) Name some X-Iinked recessive disorders with a brief
description of any two of these.
0) What are causes of manifestation of such a disorder in
females?
a) Classify types of mutation. 5+5
b) Give examples of each with mechanism underlying such
mutations.
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POSSESSION/USE OF CELL PHONES 0R ANYSUCH ELECTRONIC GADGETS l5 NOTPERMITI'ED INSIDE THE EXAMINATION HALL.

FINAL EXAM NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2017
6. a) What is hemophilia? 3+7
b) How do you perform mutation analysis for different types of
hemophilia?
7. a) What are animal models? 4+6
b) Name some animal models used for genetic disorders and
mention the advantages for using such models.
8. a) What is the principle of Sangersequencing? 4+3+3
b) Mention its advantages over ARMS-PCR in diagnosis of Beta-
thalassemia
c) When will you prefer Sanger-Sequencing over NGS (Next-
generation sequencing)?
9. a) What are the various databases you can use for syndrome 6+4
search?
b) How will you use OMIM and what disorders do you look for
when you use OMIM?
10. a) What are familial cancers?
b) Name some familial cancers. 4+3+3
) What laboratory technology will you use and how for diagnosis
in a family with VHL (Von-HippeI-Lindau disease)?
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POSSESSION/USE OF CELL PHONES 0R ANYSUCH ELECTRONIC GADGETS l5 NOTPERMITI'ED INSIDE THE EXAMINATION HALL.