Download DNB 2020 December MedIcal GenetIcs Paper I Question Paper

Download Diplomate of National Board (DNB) 2020 December MedIcal GenetIcs Paper I Question Paper

FINAL EXAM
NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2020
MEDICAL GENETICS
PAPER-I

Time: 3 hours
MED.GEN/D/20/53/I
Max. Marks:100
Important Instructions:
You are provided with 5 answer sheet booklets. Each individual answer sheet booklet consists
of 10 pages excluding the covering jackets.
Answers to all the questions must be attempted within these 5 answer sheet booklets which
must be later tagged together at the end of the exam.
No additional supplementary answer sheet booklet will be provided.
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 answer 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 is Hardy Weinberg Equilibrium in relation to population
2+5+3
genetics? What is the difference between genotype frequency and
allelic frequency? Describe the factors affects the Hardy Weinberg
Equilibrium.
2. Illustrate the differences with suitable examples.
5+5
a) Mosaicism and chimerism.

b) Penetrance and variable expression.
3. What is OMIM? Name and describe few important online
2+8
databases and mobile applications used in dysmorphology.

4. What are the health consequences of consanguinity? Define
2+2+6
coefficient of relationship and illustrate this with pedigree analysis.
What type of disorders are more common in consanguineous
marriages?
5. What are Pseudo-TORCH conditions? Why are they called
4+2+4
interferonopathies? Write in detail for any one of them.

6. Define "Gene Expression". Describe the various mechanisms of
2+5+3
gene expression. What are the methods for gene expression

studies?
7. Explain the mechanism of epigenetics and how do they effect
2+5+3
phenotype of genetic disorders. Give one example in detail.

8. a) Enumerate the characteristic feature of mitochondrial
5+5
inheritance.
b) Discuss briefly the difficulty and limitations during genetic
counselling of a mitochondrial disorders.
P.T.O.
-1-
POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE
EXAMINATION HALL.

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FINAL EXAM
NATIONAL BOARD OF EXAMINATIONS
DECEMBER 2020

MEDICAL GENETICS
PAPER-I
9. What are the different types of polymorphisms observed in human
4+3+3
DNA? Give practical examples of use of STRs (Short Tandem
Repeats) in diagnostics. Mention how the knowledge of
polymorphism is used in SNP Microarray.
10. Give a brief description of replication of human DNA and how DNA
6+4
is repaired if damaged.

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-2-
POSSESSION/USE OF CELL PHONES OR ANY SUCH ELECTRONIC GADGETS IS NOT PERMITTED INSIDE THE
EXAMINATION HALL.

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