Genetics MCQ

25-12-2015
Hemophilia is associated with:

a. X-chromosome
b. Y-chromosome
c. Chromosome 3
d. Chromosome 16
Dr. T. Gayathri Devi
Neurofibromatosis I is:
a. AD
b. AR
c. X linked recessive
d. linked dominant
Which of the following is X-linked recessive?

a.G6PD deficiency
b. Neurofibromatosis
c. Thalassemia
d. Alkaptonuria
Chance of having cystic fibrosis if only one

parent is affected and the other is normal:
a. 25%
b. 0%
c. 50%
d. 80%
AD- 50%, 1:2, 1/2

AR- 25%, 1:4, 1/4
Which of the following is inherited as

autosomal recessive form?
a. Sickle cell anemia
b. Hemophilia.
c. Hereditary spherocytosis
d. Glucose 6-PO4 dehydrogenase deficiency
25-12-2015
If both parents are sickle cell anemia patients,

then the likelihood of offsprings
Having the disease is:
a. 10%
b. 25%
c. 50%
d. 100%
Cystic fibrosis is inherited as an autosomal

Recessive condition. A normal couple has
one daughter affected with the disease. They
are now planning to have another child. What
Is the chance of her sibling being affected
By the disease:
a. 0
b.
c.
d.
Males are more commonly affected than

females in:
a. Autosomal dominant
b. Autosomal recessive
c. X-linked dominant
d. X-linked recessive
Kinky hair disease is a disorder where an affected

child has peculiar white stubby hair, does not grow,
brain degeneration is seen and dies by age of two
years. Mrs.A is hesitant about having children
because her two sisters had sons who had died form
kinky hair disease. Her mothers brother also died of
the same condition. Which of the following is the
possible mode of inheritance in her family?
a. X-linked recessive
b. X-linked dominant
c. Autosomal recessive
d. Autosomal dominant
Gauchers disease is inherited as:

a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
25-12-2015
The chances of having an unaffected baby,

when both parents have achondroplasia, are:
a. 0%
b. 25%
c. 50%
d. 100%
A parent is homozygous and another parent is

Heterozygous for an autoscomal recessive
Gene. What will be the outcome?
a. 75% children affected
b. No child affected, but all the carriers
c. 50% children affected, rest are carriers
d. 25% children affected, rest are carriers
Edwards syndrome is:

a. Trisomy 21
b. Trisomy 18
c. Trisomy 13
d. 5P
Duchenne muscular dystrophy is inherited as:

a. X-linked
d. Codominant
True statement about inheritances of an

X-linked recessive trait is:
a. 50% of boys of carrier mother are affected
b. 50% of girls of diseased father and carrier
c. Father transmits disease to the son
d. Mother transmits disease to the daughter
25-12-2015
Multifactorial inheritance is most likely to

play a significant role in the appearance of:
a. Achondroplasia
b. Lysosomal storage disease
c. Cleft lip
d. Huntington disease
The following diseases have defect in DNA

repair mechanism except for:
a. Xeroderma pigmentosa
b. Fanconi syndrome
c. Huntingtons disease
d. Hereditary non-polyposis colon cancer
Which of the following is a DNA repair defect?

a. Bloom syndrome
b. Incontinentia pigmenti
c. Aplastic anemia
d. Tuberous sclerosis
Gene instability associated with malignancy is

seen in:
a. Klippel-Feil syndrome
b. Ataxia-telangiectasia
c. Marfans syndrome
d. EDS
DNA repair defect is associated with:

a. Xeroderma pigmentosum
b. Icthyosis
c. Angelman syndrome
d. DiGeorges syndrome
In xeroderma pigmentosum, defect is in:

a. Methylation
b. Nucleotide excision repair
c. DNA replication
d. Protein folding
25-12-2015
Single gene disorder which does not follow

mendelian inheritance is
Anticipation is seen in:

a. Translocation
a. Sickle cell anemia

b. Down syndrome
b. Chromosome breaking
c. Fragile X syndrome
c. Trinucleotide-repeat expansion
d. Retinoblastoma
d. Mitochondrial mutation
A couple has two children affected with tuberous

sclerosis. On detailed clinical and
Laboratory evaluation (including molecular
studies) both parents are normal. Which one
of the following explains the two affected
children in this family?
a. Non-penetrance
b. Uniparental disomy
c. Genomic imprinting
d. Germline mosaicism
True about fragile X syndrome:

a. Triple nucleotide repeat sequence
b. Chromosome breaking
c. Mitochondrial mutation
d. Centrachrome absent
Both
parents normal
number of children affected
Variant of AD
Due to new mutation in egg or sperm post
zygotically
Gametes carry mutations, somatic cells
normal
Eg Osteogenesis imperfecta, achondroplasia,
tuberous sclerosis
Variable
Triple repeat
mutation
Repeatation of
triple s codons
Premutations
present
Anticipation seen
Amplification
occurs during
oogenesis
All are true about Fragile X syndrome except:

a. Large head
b. Large nose
c. Large ear
d. Large testis
25-12-2015
One of the following disorders is due to

Maternal disomy of chromosome 15:
a. Prader-Willi syndrome
b. Angelman syndrome
c. Hydratidiform mole
d. Klinefelters syndrome
Two siblings with osterogenesis imperfecta,

but their parents are normal. Mechanism of
inheritance is:
a. Anticipation
b. Genomic imprinting
c. Germ line mosaicism
d. New mutation
True about genomic imprinting:

a. Differential expression of gene depending
on parent of origin
b. Prader-Will syndrome is maternal deletion
of chromosome 15
c. Angelman syndrome is due to paternal
deletion of chromosome 15
d. Uniparental disomy is other name of
genomic imprinting
Out
of 2 alleles- differential inactivation of

either maternal or paternal allele
Occurs in ovum or sperm before fertilisation
MECHANISM- epigenetics
By methylation of DNA or
acetylation of histones
DNA sequence un modified but
expression
Eg - Prader- Willi syndrome
Angelman syndrome
25-12-2015
Genomic imprinting is seen in:

b. Marfan syndrome
c. EDS (Ehlers-Danlos syndrome)
d. Osteogenesis imperfecta
Prader- Willi syndrome
Deletion of paternal
chromosome 15q12
Only imprinted
maternal allele
present
Can also be due to
maternal uniparental
disomy
Ghrelin hormone (
increases appetite)
Angelmann syndrome
Deletion of maternal
chromosome 15q12
Only imprinted
paternal allele
present
Can also be due to
paternal uniparental
disomy
Ubiquitin ligase gene
affected
When a functional gene is inherited from one

parent only, the condition is known as:
a. Genomic imprinting
b. Mosaicism
c. Alleles
d. Chimerism
Paternal 15 chromosome deletion is seen in:

a. Angelman syndrome
b. Prader-Willi syndrome
c. Down syndrome
d. Turner syndrome
Obesity with mental retardation is seen in:

b.Turner syndrome
c. Fragile X syndrome
d. Noonan syndrome
25-12-2015
Angelman syndrome is due to:

a. Digenic inheritance
b. Inversion
c.Uniparental disomy
d.Mitochondrial disorder
NARP is a:
a. Lipid storage disorder
b. Glycogen storage disorder
c. Mitochondrial disorder
d. Lysosomal storage disorder
Mitochondrial chromosomal abnormality leads

to:
a. Lebers hereditary optic neuropathy
b. angelman syndrome
c. Prader-Willi syndrome
d. Myontonic dystrophy
Read the pedigree. Inheritance pattern of the

disease in the family is:
a. Autosomal recessive type

b. Autosomal dominant type
c. X-linked dominant type
d. X-linked recessive type
Which of the following procedures are routine

technique for karyotyping using light
microscopy?
a. C-banding
b. G-banding
c. Q-banding
d. Brd V-staining
25-12-2015
Microarray is:
a. Study of multiple genes
b. Study of disease
c. Study of organisms
d. Study of blood group
Karyotyping is done in which phase of cell

Cyle:
a. Anaphase
b. Metaphase
c. Telophase
d. S phase
Down syndrome is most commonly caused by:

a. Maternal nondisjunction
b. Paternal nondisjunction
c.Translocation
d. Mosalcism
Karyotyping is done with all, except:

a. Blood lymphocyte
b. Blood monocyte
c. Amnion
d. Fibroblast
Karyotyping is useful in diagnosis of:

a. Autosomal recessive disorders
b. X-linked recessive disorders
c. Chromosomal abnormalities
d. Biochemical abnormalities
Down syndrome is due to:

a. Trisomy 21
b. Translocation 13-15/21
c. Translocation 22/21
d. All of the above
25-12-2015
Which is not true about down syndrome?

a. Decreased humerus length
b. Decreased nuchal fold thickness
c. Decreased femur length
d. Duodenal atresia
Kilnefelter syndrome no of chromosomes:

a. 47
b. 46
c. 45
d. 44
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25-12-2015
All the following are characteristic of Turner

Syndrome except:
a. Webbing of neck
b. Cubitus valgus
c. Umbilical hernia
d. Coarctation of aorta
Males who are sexually underdeveloped with

rudimentary testes and prostate glands, sparse
pubic and facial hair, long arms and legs and
Large hands and feet are likely to have the
chromosome:
a. 45, XYY
b. 46, XY
c. 47, XXY
d. 46, X
In Marfans syndrome, aortic aneurysm occurs

most commonly in:
a. Ascending aorta
b. Descending aorta
c. Abdominal aorta
d. Basement membrane
A nineteen-year old female which short

stature, widespread nipples and primary
amenorrhoea most likely has a karyotype of:
a. 47, XX+18
b. 46,XXY
c. 47 XXY
d. 45X
Barr body is absent in:

a. Kleinefelters syndrome
b. Turners syndrome
c. Super female
d. None
Osteogenesis imperfecta defect occurs in:

a. Collagen type I
b. Elastin
c. Collagen type IV
d. Basement membrane
11
25-12-2015
Chromosome 22 deletion syndrome is:

a. Down syndrome
b. DiGeorge syndrome
c. Turner syndrome
d. Klinefelter syndrome
False statements about fragile X syndrome is:

a. Breakage in long arm of X chromosome
b. Common genetic disorder
c. Micro-orchidism
d. Long face
The following are the features of Marfans

syndrome except:
a. Arachnodactyly
b. Reduced joint mobility
c. Dislocation of the lens
d. Mitral regurgitation
Hypermobility of joint and hyperelasticity

skin is seen in:
a. Marfan syndrome
b. Ehlers-Danlos syndrome
c. Fragile X-syndrome
d. Angelman syndrome
Watson and Crick are associated with:

a. Discovery of helical structure of DNA
b. Association of helicobacter pylori with
chronic gastritis.
c. Discovery of HIV virus
d. None of the above
Which is not a feature of Down syndrome:

a. Clinodactyly
b. Pigmented birth marks
c. Hypotonia
d. Respiratory tract Infections
12
25-12-2015
A 10-year-old male, although mentally retarded, is

able to carry out activities of daily living, including
feeding and dressing himself. On physical
examination, he had branchycephaly and oblique
palpebral fissures with prominent epicanthal folds.
On the palm of each hand is seen a transverse
crease.On auscultation of the chest, there is a
grade III/IV systolic murmur. Which of the
following diseases will be most likely have by the
age of 20?
a. Acute leukemia
b. Hepatic cirrhosis
c. Acute myocardial infarction
D. Chronic renal failure
Autosomal dominant gene is one which is

expressed in:
a. Homozygous state
b. Heterozygous state
c. Both
d. All of the above
Chances of an offspring being affected when

one parent is autosomal dominant
heterozygote:
a. 25%
b. 50%
c. 100%
d. None of the above
Mitochondrial DNA (mt-DNA) is known

for all except:
a. Maternal inheritance
b. Heteroplasmy
c. Leber hereditary optic neuropathy is the
prototype
d. Nemaline myopathy results due to
mutations in mt-DNA
The following are single gene disorders except:

a. Hemochromatosis
b. Cystic fibrosis
c. Williams syndrome
d. Huntingtons disease
William syndromeDeletion of segment
of chromosome 7
conatining elastin
gene
Which one of the following is due to point

mutation:
a.Color blindness
b. Sickle cell anemia
c. Diabetes
d. Porphyria
13
25-12-2015
Multifactorial inheritance is known as:

a. Neurofibroma
b. Hemophilia
c. Cardiac septal defects
d. Hypophosphatemic rickets
Gene involved in Rett syndrome:

a. P53
b. MECP2
c. P-16
d. BRCA
The gene that regulates normal morphogenesis

during development is:
a. FMR -1 gene
b. Homeoboxgene
c. P-16
d.PTEN
Inheritance pattern of ABO blood group

system is:
a. Pseudodominance
d. Codominance
Deficiency of enzyme Hexosaminidase A

subunit causes:
a. Tay-Sachs disease
b. Hurler syndrome
c. Collagen
d. Elastin
14

Genetics MCQ

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25-12-2015

Hemophilia is associated with:

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Which of the following is X-linked recessive?

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Chance of having cystic fibrosis if only one

AD- 50%, 1:2, 1/2

Which of the following is inherited as

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

If both parents are sickle cell anemia patients,

Dr. T. Gayathri Devi

Cystic fibrosis is inherited as an autosomal

Males are more commonly affected than

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Kinky hair disease is a disorder where an affected

Dr. T. Gayathri Devi

Gauchers disease is inherited as:

Dr. T. Gayathri Devi

The chances of having an unaffected baby,

Dr. T. Gayathri Devi

A parent is homozygous and another parent is

Dr. T. Gayathri Devi

Edwards syndrome is:

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Duchenne muscular dystrophy is inherited as:

Dr. T. Gayathri Devi

True statement about inheritances of an

Dr. T. Gayathri Devi

Multifactorial inheritance is most likely to

Dr. T. Gayathri Devi

The following diseases have defect in DNA

Dr. T. Gayathri Devi

Which of the following is a DNA repair defect?

Dr. T. Gayathri Devi

Gene instability associated with malignancy is

Dr. T. Gayathri Devi

DNA repair defect is associated with:

Dr. T. Gayathri Devi

In xeroderma pigmentosum, defect is in:

Dr. T. Gayathri Devi

Single gene disorder which does not follow

Anticipation is seen in:

a. Sickle cell anemia

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

A couple has two children affected with tuberous

Dr. T. Gayathri Devi

True about fragile X syndrome:

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

All are true about Fragile X syndrome except:

Dr. T. Gayathri Devi

One of the following disorders is due to

Dr. T. Gayathri Devi

Dr. T. Gayathri Devi

Two siblings with osterogenesis imperfecta,

Dr. T. Gayathri Devi

True about genomic imprinting: