1

• First human gene to be cloned in 1977 –

a) Insulin
b) Placental lactogen
c) Growth hormone
d) Thyroid
 2
• Nail patella syndrome is caused by mutation in
–
a. LMX 1b
b. MSX1
c. MSX2
d. p63
 3
• Mutation is which of the following gene
affects nail development in ankyloblephron,
ectodermal dysplasia, and cleftlip/palate
syndrome –
a. Hoxc13
b. LMX1b
c. MSX1
d. p63
 4
• Percentage of genome corresponding to
protein encoding exon genes –
a. 0.5%
b. 1%
c. 1.5%
d. 2%
 5
• 27 functional type I keratin genes are present
on which chromosome?
a. 5
b. 13
c. 17
d. 20
 6
• Keratin gene, KRT14, encoding keratin 14 is
composed of –
a. 1 exon
b. 4exons
c. 6 exons
d. 8 exons
 7
• Filaggrin gene is located on chromosome –
a. 1
b. 2
c. 3
d. 4
 8
• Type of mutation in dystonin(DST) gene, which
codes for BP230, leading to AR epidermolysis
bullosa simplex –
a. Missense mutation
b. Nonsense mutation
c. Loss of function mutation
d. Gain of funtion mutation
 9
• Phenomenon by which mutation in one gene
leads to multiple inherited disorders-
a. Genetic heterogeneity
b. Allelic heterogeneity
c. Expressivity
d. Nonpenetrant
 10
• In AD inheritance,the term used when the
phenotype inheterozygous indl is less than
observed for homozygous indl is –
a. Pseudodominant
b. Hemidominant
c. Semidominant
d. Hypodominant
 11
• Icthyosis vulgaris is –
a. Autosomal dominant disorder
b. Semidominant
c. Psudodominant
d. Co-dominant
 12
• Conradi-Hunermann syndrome is-
a. AD
b. AR
c. XLD
d. XLR
 13
• The frequency of chromosomal abnormalities
in live births is –
a. 0.1%
b. 0.3%
c. 0.6%
d. 1%
 14
• Presence of two identical copies of
chromosome homologs acquired from just
one parent is called –
a. Uniparental isodisomy
b. Uniparental disomy
c. Uniparental heterodisomy
d. Meroisodisomy
 15
• Syndrome characterised by cutaneous
features like cutis laxa, hypertrichosis of
forehead, superficial hemangiomas, single
palmar crease, ankyloblepharon filliforme
adnatum–
a. Edwards
b. Patau
c. Klinefelter
d. Turner
 16
• Premature graying of hairs, cat-like cry,
preauricular skin tag, mental retardation,
microcephaly are seen in –
a. Chromosome 4, short arm deletion
b. Chromosome 18, long arm deletion
c. Chromosome 5, short arm deletion
d. Chromosome 13, long arm deletion
 17
• Chromosomal disorder manifesting as
multiple cutaneous angiomas, Acrocyanosis,
peripheral vascular disease is –
a. 47XXY
b. 48XXYY
c. 47XYY
d. 49XXXXY
 18
• Chromosomal disroder associated with
increased incidence of keloids, melanocytic
nevi and halo nevi –
a. Down
b. Edward
c. Turner
d. Patau
 19
• Out of 37 mitochondrial genes, number of
genes coding proteins of respiratory chain
complexes –
a. 24
b. 30
c. 15
d. 13
 20
• Number of genes on X chromosome –
a. 1117
b. 1217
c. 1317
d. 1417
 21
• The phenomenon of genetic correction of an
abnormality by back mutation, intragenic
crossovers, mitotic gene conversion or second
site mutation is called –
a. Segmental mosaicism
b. Reverant mosaicism
c. Therapeutic mosaicism
d. Reverse mosaicism
 22
• Number of classic loci at HLA class II region on
chromosome 6 are –
a. 2
b. 3
c. 4
d. 5
 23
• In Han Chinese population, increased risk of
carbamazepine induced SJS/TEN is due to
presence of –
a. HLA A 1924
b. HLA DR 982
c. HLA C 141
d. HLA B 1502
 24
• Fetal skin biopsies are take in
a. Late first trimester
b. Mid trimester
c. Early third trimester
d. Late third trimester
 25
• Recent diagnostic approach termed
preimplantation genetic haplotyping has been
applied successfully for –
a. Epidermal hyperkeratosis
b. Ichthyosis Vulgaris
c. Herlitz junctional EB
d. Lamellar icthyosis
 26
• Short inhibitory RNA (siRNA) used for RNA
inhibotion pathway in gene therapy, usually
consists of –
a. 9-14 bp
b. 19-21 bp
c. 25-29 bp
d. 39-41 bp
 27
• Menkes syndrome is –
a. AD
b. AR
c. XLD
d. XLR
 28
• Percentage of patients in pemphigoid
(herpes) gestationis who express either HLA-
DR3 or HLA-DR4 are –
a. 20%
b. 50%
c. 70%
d. 90%
 29
• Noonan syndrome is –
a. AD
b. AR
c. XLD
d. XLR
 30
• In Watson’s syndrome, café-au-lait spots are
associated with –
• Mitral Stenosis
• Aortic stenosis
• Pumonary stenosis
• Aortic regurgitation
 1
• First human gene to be cloned in 1977 –
a) Insulin
b) Placental lactogen
c) Growth hormone
d) Thyroid
 2
• Nail patella syndrome is caused by mutation in
–
a. LMX 1b
b. MSX1
c. MSX2
d. p63
• LMX1b
• and MSX1 are important for nail specification;
LMX1b
• and MSX1 are mutated in nail–patella
syndrome and
• Witkop syndrome, respectively
 3
• Mutation is which of the following gene
affects nail development in ankyloblephron,
ectodermal dysplasia, and cleftlip/palate
syndrome –
a. Hoxc13
b. LMX1b
c. MSX1
d. p63
• Mutations in p63 affect nail development in
syndromes such as ankyloblepharon,
ectodermal dysplasia, and cleft lip/palate
syndrome, as well as ectrodactyly, ectodermal
dysplasia, and cleft lip/palate syndrome.
• Functional p63 is required for the formation
and maintenance of the apical ectodermal
ridge, an embryonic signaling center essential
for limb outgrowth and hand plate formation
 4
• Percentage of genome corresponding to
protein encoding exon genes –
a. 0.5%
b. 1%
c. 1.5%
d. 2%
 5
• 27 functional type I keratin genes are present
on which chromosome?
a. 5
b. 13
c. 17
d. 20
 6
• Keratin gene, KRT14, encoding keratin 14 is
composed of –
a. 1 exon
b. 4exons
c. 6 exons
d. 8 exons
 7
• Filaggrin gene is located on chromosome –
a. 1
b. 2
c. 3
d. 4
 8
• Type of mutation in dystonin(DST) gene, which
codes for BP230, leading to AR epidermolysis
bullosa simplex –
a. Missense mutation
b. Nonsense mutation
c. Loss of function mutation
d. Gain of funtion mutation
 9
• Phenomenon by which mutation in one gene
leads to multiple inherited disorders-
a. Genetic heterogeneity
b. Allelic heterogeneity
c. Expressivity
d. Nonpenetrant
 10
• In AD inheritance,the term used when the
phenotype inheterozygous indl is less than
observed for homozygous indl is –
a. Pseudodominant
b. Hemidominant
c. Semidominant
d. Hypodominant
• Mutations within one gene do not always lead
to a single inherited disorder. For example,
mutations in the ERCC2 gene may lead to
xeroderma pigmentosum (type D),
trichothiodystrophy, or cerebrofacioskeletal
syndrome, depending on the position and
type of mutation
 11
• Icthyosis vulgaris is –
a. Autosomal dominant disorder
b. Semidominant
c. Psudodominant
d. Co-dominant
• The term semidominant is applied when the
phenotype in heterozygous individuals is less
than that observed for homozygous subjects.
For example, ichthyosis vulgaris is a
semidominant disorder in which the presence
of one or two mutant profilaggrin gene (FLG)
alleles can strongly influence the clinical
severity of the ichthyosis
 12
• Conradi-Hunermann syndrome is-
a. AD
b. AR
c. XLD
d. XLR
 13
• The frequency of chromosomal abnormalities
in live births is –
a. 0.1%
b. 0.3%
c. 0.6%
d. 1%
 14
• Presence of two identical copies of
chromosome homologs acquired from just
one parent is called –
a. Uniparental isodisomy
b. Uniparental disomy
c. Uniparental heterodisomy
d. Meroisodisomy
• The inheritance of both copies of a
chromosome pair from just one parent
(paternal or maternal), known as uniparental
disomy.
• Uniparental heterodisomy refers to the
presence of a pair of chromosome homologs,
whereas uniparental isodisomy describes two
identical copies of a single homolog, and
meroisodisomy is a mixture of the two
 15
• Syndrome characterised by cutaneous
features like cutis laxa, hypertrichosis of
forehead, superficial hemangiomas, single
palmar crease, ankyloblepharon filliforme
adnatum–
a. Edwards
b. Patau
c. Klinefelter
d. Turner
 16
• Premature graying of hairs, cat-like cry,
preauricular skin tag, mental retardation,
microcephaly are seen in –
a. Chromosome 4, short arm deletion
b. Chromosome 18, long arm deletion
c. Chromosome 5, short arm deletion
d. Chromosome 13, long arm deletion
 17
• Chromosomal disorder manifesting as
multiple cutaneous angiomas, Acrocyanosis,
peripheral vascular disease is –
a. 47XXY
b. 48XXYY
c. 47XYY
d. 49XXXXY
 18
• Chromosomal disroder associated with
increased incidence of keloids, melanocytic
nevi and halo nevi –
a. Down
b. Edward
c. Turner
d. Patau
 19
• Out of 37 mitochondrial genes, number of
genes coding proteins of respiratory chain
complexes –
a. 24
b. 30
c. 15
d. 13
• It is closed, circular genome contains 37
genes, 13 of which encode proteins of the
respiratory chain complexes, whereas the
other 24 genes generate 22 transfer RNAs and
two ribosomal RNAs used in mitochondrial
protein synthesis.
 20
• Number of genes on X chromosome –
a. 1117
b. 1217
c. 1317
d. 1417
 21
• The phenomenon of genetic correction of an
abnormality by back mutation, intragenic
crossovers, mitotic gene conversion or second
site mutation is called –
a. Segmental mosaicism
b. Reverant mosaicism
c. Therapeutic mosaicism
d. Reverse mosaicism
• Revertant mosaicism, also known as natural gene
therapy, refers to genetic correction of an
abnormality by various different phenomena
including back mutations, intragenic crossovers,
mitotic gene conversion, and second site
mutations.
• Such changes have been described in a few
genes expressed in the skin, including the keratin
14, laminin 332, collagen XVII, collagen VII, and
kindlin-1 (fermitin family homolog 1) genes in
different forms of EB
 22
• Number of classic loci at HLA class II region on
chromosome 6 are –
a. 2
b. 3
c. 4
d. 5
• The HLA region is located on the short arm of
chromosome 6, at 6p21, referred to as the
MHC.
• There are three classic loci at HLA class I: (1)
HLA-A, (2) HLA-B, and (3) HLA-Cw, and five loci
at class II: (1) HLA-DR, (2) HLA-DQ, (3) HLA-DP,
(4) HLA-DM, and (5) HLA-DO.
 23
• In Han Chinese population, increased risk of
carbamazepine induced SJS/TEN is due to
presence of –
a. HLA A 1924
b. HLA DR 982
c. HLA C 141
d. HLA B 1502
 24
• Fetal skin biopsies are take in
a. Late first trimester
b. Mid trimester
c. Early third trimester
d. Late third trimester
 25
• Recent diagnostic approach termed
preimplantation genetic haplotyping has been
applied successfully for –
a. Epidermal hyperkeratosis
b. Ichthyosis Vulgaris
c. Herlitz junctional EB
d. Lamellar icthyosis
• Successful preimplantation testing has also been
reported for severe inherited skin disorders.
• This is likely to become a more popular in view
of recent advances in amplifying the whole
genome in single cells and the application of
multiple linkage markers in an approach termed
preimplantation genetic haplotyping
• This approach has been developed and applied
successfully for Herlitz junctional epidermolysis
bullosa
 26
• Short inhibitory RNA (siRNA) used for RNA
inhibition pathway in gene therapy, usually
consists of –
a. 9-14 bp
b. 19-21 bp
c. 25-29 bp
d. 39-41 bp
• Treatment of dominant-negative disorders has
recently started to receive a great deal of
attention with the discovery of the RNA
inhibition pathway in humansand the finding
that small synthetic double-stranded RNA
molecules of 19 to 21 bp, known as short
inhibitoryRNA (siRNA), can efficiently inhibit
expression of human genes in a sequence-
specific, user-defined manner
 27
• Menkes syndrome is –
a. AD
b. AR
c. XLD
d. XLR
 28
• Percentage of patients in pemphigoid
(herpes) gestationis who express either HLA-
DR3 or HLA-DR4 are –
a. 20%
b. 50%
c. 70%
d. 90%
 29
• Noonan syndrome is –
a. AD
b. AR
c. XLD
d. XLR
 30
• In Watson’s syndrome, café-au-lait spots are
associated with –
• Mitral Stenosis
• Aortic stenosis
• Pumonary stenosis
• Aortic regurgitation