University:West Bengal University of Technology
Course: B.sc
Subject : MOLECULAR HUMAN GENETICS
Year of Question Paper : 2013
CS/B.Sc.(H)/(Genetics/Mol-Bio.)/SEM-6/MLG-603/2013
2013
MOLECULAR HUMAN GENETICS
Time Allotted : 3 Hours Full Marks : 70
The figures in the margin indicate full marks.
Candidates are required to give their answers in their own words
as far as practicable.
GROUP – A
( Multiple Choice Type Questions )
1. Choose the correct alternatives for any ten of the following :
10x1 = 10
i) Which chromosome possesses lowest number/density
of genes ?
a) 13
b) Y
c) 1
d) 22.
ii) Locus heterogeneity means
a) same disease by mutations at different loci
b) existence of many different disease-causing alleles
at same locus
c) complex patterns of inheritance occurs from the
same locus
d) variable expression of a gene in the same locus.
iii) Which year map based Cystic Fibrosis Gene was
discovered on chromosome 7q ?
a) 1987
b) 1989c) 1992
d) 1998.
iv) Which type of vectors are mostly used in gene therapy
clinical trials ?
a) Retrovirus
b) Pox virus
c) Vaccinia virus
d) Adeno-associated virus.
v) First human gene therapy trial was done using
a) MoMLV-based delivery vector
b) Liposome-based delivery
c) Human Artificial chromosome based delivery
d) Non-viral based delivery.
vi) Repetitive sequence within coding region causes
a) Huntington disease
b) Fragile X syndrome
c) Baker Muscular dystrophy
d) Cystic fibrosis.
vii) Repetitive sequence outside coding region causes
a) Fragile X syndrome
b) Baker Muscular dystrophy
c) Huntington disease
d) Cystic fibrosis.
viii) Which year map based Huntington Disease Gene was
discovered on chromosome 4p ?
a) 1990
b) 1993
c) 1997d) 1998.
ix) Which year Human Genome Project was Proposed ?
a) 1982
b) 1985
c) 1988
d) 1990.
x) Diagnosis of Ambigous phenotype of a newborn baby is
done by
a) Physical examination
b) Genetic test
c) Hormonal test
d) Ultrasound.
xi) The presence of both ovarian and testicular tissue in
the same individual known as
a) female pseudohemaphroditism
b) true hermaphroditism
c) XY-FEMALE
d) mixed gonadal dysgenesis.
xii) The first artificial chromosome is synthesized in the
year
a) 1981
b) 1983
c) 1986
d) 1984.
xiii) The DNA fingerprinting technique is developed in the
year
a) 1978
b) 1982
c) 1984
d) 1990.
GROUP – B
( Short Answer Type Questions )
Answer any three of the following. 3x5 = 15
2. What is haploinsufficiency ? What is its effect ? 2 + 3
3. Why genetic map differ from physical map ?
4. How to decide whether a non-Mendelian character is genetic
or not ?
5. Define haplotype and gene conversion. What is the
difference between gene conversion and recombination ?
2 + 2 + 1
6. Chaisma count give an estimate of the total map length.
Explain.
GROUP – C
( Long Answer Type Questions )
Answer any three of the following. 3x15 = 45
7. What are loss of function mutation and gain of function
mutation ? What is dominant negative effect ? Discuss
dominant negative effect in Fibrillar collagens.
21/2 + 21/2 + 3 + 7
8. Discuss Loss of function mutation in PAX3 gene ? What
epigenetic mechanisms can bring about mutational effects in
genes ? Discuss all of them in short. 7 + 2 + 6
9. What are positional cloning and candidate gene mapping ?
How positional cloning and candidate gene mapping help to
identify the human disease gene ? Explain with suitable
example. What is complex genetic dieseas ?2 + 2 + 4 + 4 + 3
10. How chromosomal aberrations provide a useful short-cut to
locate a disease gene ? Why multipoint mapping is more
efficient than two point mapping ? What are the different
genetic markers used in human disease gene mapping ?
5 + 5 + 5
11. What are contiguous gene syndrome and segmental
aneuploidy syndrome ? Give example. Allelic heterogeneity is
a common feature of loss of function phenotype. Explain.
5 + 5 + 5
=======
Course: B.sc
Subject : MOLECULAR HUMAN GENETICS
Year of Question Paper : 2013
CS/B.Sc.(H)/(Genetics/Mol-Bio.)/SEM-6/MLG-603/2013
2013
MOLECULAR HUMAN GENETICS
Time Allotted : 3 Hours Full Marks : 70
The figures in the margin indicate full marks.
Candidates are required to give their answers in their own words
as far as practicable.
GROUP – A
( Multiple Choice Type Questions )
1. Choose the correct alternatives for any ten of the following :
10x1 = 10
i) Which chromosome possesses lowest number/density
of genes ?
a) 13
b) Y
c) 1
d) 22.
ii) Locus heterogeneity means
a) same disease by mutations at different loci
b) existence of many different disease-causing alleles
at same locus
c) complex patterns of inheritance occurs from the
same locus
d) variable expression of a gene in the same locus.
iii) Which year map based Cystic Fibrosis Gene was
discovered on chromosome 7q ?
a) 1987
b) 1989c) 1992
d) 1998.
iv) Which type of vectors are mostly used in gene therapy
clinical trials ?
a) Retrovirus
b) Pox virus
c) Vaccinia virus
d) Adeno-associated virus.
v) First human gene therapy trial was done using
a) MoMLV-based delivery vector
b) Liposome-based delivery
c) Human Artificial chromosome based delivery
d) Non-viral based delivery.
vi) Repetitive sequence within coding region causes
a) Huntington disease
b) Fragile X syndrome
c) Baker Muscular dystrophy
d) Cystic fibrosis.
vii) Repetitive sequence outside coding region causes
a) Fragile X syndrome
b) Baker Muscular dystrophy
c) Huntington disease
d) Cystic fibrosis.
viii) Which year map based Huntington Disease Gene was
discovered on chromosome 4p ?
a) 1990
b) 1993
c) 1997d) 1998.
ix) Which year Human Genome Project was Proposed ?
a) 1982
b) 1985
c) 1988
d) 1990.
x) Diagnosis of Ambigous phenotype of a newborn baby is
done by
a) Physical examination
b) Genetic test
c) Hormonal test
d) Ultrasound.
xi) The presence of both ovarian and testicular tissue in
the same individual known as
a) female pseudohemaphroditism
b) true hermaphroditism
c) XY-FEMALE
d) mixed gonadal dysgenesis.
xii) The first artificial chromosome is synthesized in the
year
a) 1981
b) 1983
c) 1986
d) 1984.
xiii) The DNA fingerprinting technique is developed in the
year
a) 1978
b) 1982
c) 1984
d) 1990.
GROUP – B
( Short Answer Type Questions )
Answer any three of the following. 3x5 = 15
2. What is haploinsufficiency ? What is its effect ? 2 + 3
3. Why genetic map differ from physical map ?
4. How to decide whether a non-Mendelian character is genetic
or not ?
5. Define haplotype and gene conversion. What is the
difference between gene conversion and recombination ?
2 + 2 + 1
6. Chaisma count give an estimate of the total map length.
Explain.
GROUP – C
( Long Answer Type Questions )
Answer any three of the following. 3x15 = 45
7. What are loss of function mutation and gain of function
mutation ? What is dominant negative effect ? Discuss
dominant negative effect in Fibrillar collagens.
21/2 + 21/2 + 3 + 7
8. Discuss Loss of function mutation in PAX3 gene ? What
epigenetic mechanisms can bring about mutational effects in
genes ? Discuss all of them in short. 7 + 2 + 6
9. What are positional cloning and candidate gene mapping ?
How positional cloning and candidate gene mapping help to
identify the human disease gene ? Explain with suitable
example. What is complex genetic dieseas ?2 + 2 + 4 + 4 + 3
10. How chromosomal aberrations provide a useful short-cut to
locate a disease gene ? Why multipoint mapping is more
efficient than two point mapping ? What are the different
genetic markers used in human disease gene mapping ?
5 + 5 + 5
11. What are contiguous gene syndrome and segmental
aneuploidy syndrome ? Give example. Allelic heterogeneity is
a common feature of loss of function phenotype. Explain.
5 + 5 + 5
=======
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