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

Which of the following is X-linked recessive? a.G6PD deficiency

AR c. X linked recessive d. linked dominant

b. Neurofibromatosis c. Thalassemia d. Alkaptonuria

b.



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-PO 4 dehydrogenase deficiency



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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. b. c. d.

0 ½ ¼ ¾ Dr. T. Gayathri Devi

Males are more commonly affected than females in: a. Autosomal dominant b. Autosomal recessive c. X-linked dominant


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 mother’s 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


Gaucher’s disease is inherited as: a. Autosomal recessive b. Autosomal dominant c. X-linked recessive d. X-linked dominant

d. X-linked recessive



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The chances of having an unaffected baby, when both parents have achondroplasia, are: 0% b. 25% c. 50% d. 100% a.



A parent is homozygous and another parent is Heterozygous for an autoscomal recessive

Duchenne muscular dystrophy is inherited as: a. X-linked

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

b. Autosomal dominant c. Autosomal recessive d. Codominant

d. 25% children affected, rest are carriers


Edward’s syndrome is: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. 5P


True statement about inheri tances 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



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25-12-2015

Multifactorial inheritance is most likely to play a significant role in the appearance of:

Gene instability associated with malignancy is seen in:

a. Achondroplasia b. Lysosomal storage disease c. Cleft lip d. Huntington disease

a. Klippel-Feil syndrome b. Ataxia-telangiectasia c. Marfan’s syndrome d. EDS



The following diseases have defect in DNA repair mechanism except for:

DNA repair defect is associated with: a. Xeroderma pigmentosum

a. Xeroderma pigmentosa b. Fanconi syndrome

b. Icthyosis c. Angelman syndrome d. DiGeorge’s syndrome

c. Huntington’s 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



In xeroderma pigmentosum, defect is in: a. Methylation b. Nucleotide excision repair c. DNA replication d. Protein folding


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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 Uniparental disomy c. Genomic imprinting d. Germline mosaicism b.

Both parents normal  Variable number of children affected 

Variant of AD  Due to new mutation in egg or sperm post zygotically  Gametes carry mutations, somatic cells normal 





True about fragile X syndrome: a. Triple nucleotide repeat sequence b. Chromosome breaking c. Mitochondrial mutation d. Centrachrome absent •

•

•

•


Eg Osteogenesis imperfecta, achondroplasia, tuberous sclerosis

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


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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. Klinefelter’s syndrome



Two siblings with osterogenesis im perfecta, 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 bef ore fertilisation  MECHANISM- epigenetics By methylation of DNA or acetylation of histones 

DNA sequence un modified but ↓expression 

Eg - Prader- Willi syndrome Angelman syndrome Dr. T. Gayathri Devi

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25-12-2015

Genomic imprinting is seen in: a. Prader-Willi syndrome

Paternal 15 chromosome deletion is seen in: a. Angelman syndrome

b. Marfan syndrome c. EDS (Ehlers-Danlos syndrome) d. Osteogenesis imperfecta

b. Prader-Willi syndrome c. Down syndrome d. Turner syndrome



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



Obesity with mental retardation is seen in: a. Prader-Willi syndrome b.Turner syndrome c. Fragile X syndrome d. Noonan syndrome


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25-12-2015

Angelman syndrome is due to: a. Digenic inheritance

NARP is a: a. Lipid storage disorder

b. Inversion c.Uniparental disomy d.Mitochondrial 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


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25-12-2015

Microarray is: a. Study of multiple genes

Karyotyping is done with all, except: a. Blood lymphocyte

b. Study of disease c. Study of organisms d. Study of blood group

b. Blood monocyte c. Amnion d. Fibroblast


Karyotyping is done in which phase of cel l Cyle: a. Anaphase b. Metaphase c. Telophase d. S phase


Karyotyping is useful in diagnosis of: a. Autosomal recessive disorders b. X-linked recessive disorders c. Chromosomal abnormalities d. Biochemical abnormalities


Down syndrome is most commonly caused by: a. Maternal nondisjunction b. Paternal nondisjunction c.Translocation d. Mosalcism



Down syndrome is due to: a. Trisomy 21 b. Translocation 13-15/21 c. Translocation 22/21 d. All of the above


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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

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. Kleinefelter’s syndrome b. Turner’s syndrome c. Super female d. None

b. 46, XY c. 47, XXY d. 46, X


In Marfan’s syndrome, aortic aneurysm occurs most commonly in: a. Ascending aorta b. Descending aorta c. Abdominal aorta d.


Osteogenesis imperfecta defect occurs in: a. Collagen type I b. Elastin c. Collagen type IV d. Basement membrane

Basement membrane



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25-12-2015

Chromosome 22 deletion syndrome is: a. Down syndrome

Hypermobility of joint and hyperelasticity skin is seen in:

b. DiGeorge syndrome c. Turner syndrome d. Klinefelter syndrome

a. Marfan syndrome b. Ehlers-Danlos syndrome c. Fragile X-syndrome d. Angelman syndrome



False statements about fragile X syndrome is: a. Breakage in long arm of X chromosome

Watson and Crick are associated with: a. Discovery of helical structure of DNA

b. Common genetic disorder c. Micro-orchidism d. Long face

b. Association of helicobacter pylori with chronic gastritis. c. Discovery of HIV virus d. None of the above


The following are the features of Marfan’s syndrome except: a. Arachnodactyly b. Reduced joint mobility c. Dislocation of the lens


Which is not a feature of Down syndrome: a. Clinodactyly b. Pigmented birth marks c. Hypotonia d. Respiratory tract Infections

d. Mitral regurgitation



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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

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



Autosomal dominant gene is one which is expressed in:

The following are single gene disorders except: a. Hemochromatosis

a. Homozygous state b. Heterozygous state c. Both d. All of the above

b. Cystic fibrosis c. William’s syndrome d. Huntington’s disease William syndromeDeletion of segment of chromosome 7 conatining elastin gene



Chances of an offspring being affected when one parent is autosomal dominant heterozygote: a. 25% b. 50%

Which one of the following is due to point mutation: a.Color blindness b. Sickle cell anemia c. Diabetes

c. 100% d. None of the above

d. Porphyria



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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

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 b. Autosomal dominant c. Autosomal recessive d. Codominance

d. BRCA



Deficiency of enzyme Hexosaminidase A subunit causes: a. Tay-Sachs disease b. Hurler syndrome c. Collagen d. Elastin


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Genetics Mcq

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