FINAL EXAM NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2017

POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE EXAMINATION HALL.
MEDICAL GENETICS
PAPER-I
GENE/D/17/53
TIME 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 legibly.
• 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. What are the different conventional cytogenetic techniques?
Name some molecular cytogenetic techniques with brief
description of each
What are the advantages of MLPA (Multiplex Ligationdependent
Probe Amplification) and its limitations?

2. What is Universal New-born Screening
Which disorders do you think should be included in Universal
NBS and why?
What are the basic laboratory techniques used for NBS for
metabolic disorders?

3. What is multifactorial inheritance?
Name some disorders included in this group with genetics of
each.
Role of GWAS (Genome-wide association studies) in genetic
disorders

4. How do you recognize X-linked recessive disorders from a
pedigree?
Name some X-linked recessive disorders with a brief
description of any two of these.
What are causes of manifestation of such a disorder in
females?

5. Classify types of mutation.
Give examples of each with mechanism underlying such
mutations.
5+5
6. What is hemophilia?
How do you perform mutation analysis for different types of
hemophilia?
3+7
7. What are animal models?
Name some animal models used for genetic disorders and
mention the advantages for using such models.
4+6
8. What is the principle of Sanger sequencing?
Mention its advantages over ARMS-PCR in diagnosis of Betathalassemia
When will you prefer Sanger-Sequencing over NGS (Nextgeneration
sequencing)?

9. What are the various databases you can use for syndrome
search?
How will you use OMIM and what disorders do you look for
when you use OMIM?
6+4
10. What are familial cancers?
Name some familial cancers.
What laboratory technology will you use and how for diagnosis
in a family with VHL (Von-Hippel-Lindau disease)?