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Genetics and Molecular Biology Test

A comprehensive test covering genetics, cytogenetics, molecular biology, genetic disorders, inheritance patterns, and genetic counseling - essential topics for biology and medical students

25 Questions Published
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Questions

Question 1 Multiple Choice (Single Answer)

Which of the following types of mouse models uses the cre-lox system?

  1. Gene knock-outs
  2. Gene knock-ins
  3. Gene overexpression
  4. Conditional knock-outs
Question 2 Multiple Choice (Single Answer)

Which of the following repeated sequences includes an open reading frame for reverse transcriptase?

  1. LINE
  2. Copy-number variations
  3. Segmental duplications
  4. Pseudogenes
Question 3 Multiple Choice (Single Answer)

Mr. X is found to be homozygous for the e4 allele at ApoE. Which of the following statements regarding his risk of Alzheimer disease is true?

  1. He will almost certainly develop Alzheimer disease.
  2. He is protected from Alzheimer disease.
  3. He is at increased risk of Alzheimer disease.
  4. This result has no bearing on his risk of Alzheimer disease.
Question 4 Multiple Choice (Single Answer)

A study of a disorder reveals that monozygotic twins are concordant 30-40% of the time, whereas full siblings are concordant 20% of the time. Which of the following is the best interpretation of this finding?

  1. The trait has no genetic component.
  2. The trait is completely determined by genetics.
  3. Genes contribute to the trait, but are not deterministic.
  4. The trait must be due to the biology of twinning.
Question 5 Multiple Choice (Single Answer)

A trait has a population frequency of 1 : 10,000, but a population study reveals that the recurrence risk in sibs is 1 : 100. What is the value of ls?

  1. 1000
  2. 100
  3. 10
  4. 1
Question 6 Multiple Choice (Single Answer)

A couple have a child with a trait believed to be determined by multifactorial inheritance. There is no known family history of the disorder. Which of the following statements is true regarding their recurrence risk?

  1. They are not at increased risk due to the absence of prior family history.
  2. They are only at increased risk if they are related to one another.
  3. They are only at increased risk if the next child is of the same sex as the previously affected child.
  4. They are at increased risk, which can be estimated from empirical data.
Question 7 Multiple Choice (Single Answer)

The purpose of adding phytohemagglutinin to peripheral blood cultures for chromosomal analysis is

  1. stimulation of lymphocyte cell division
  2. chromosome condensation
  3. collection of large number of cells at metaphase
  4. swelling of cells to permit chromosome visualization
Question 8 Multiple Choice (Single Answer)

Which of the following is caused by the microdeletion of chromosome 7q11.2?

  1. Cowden syndrome
  2. Li-Fraumeni syndrome
  3. Williams syndrome
  4. Angelman syndrome
Question 9 Multiple Choice (Single Answer)

Which of the following individuals is mosaic?

  1. 47, XXX
  2. 47, XYY
  3. 47, XXY
  4. 45, X
Question 10 Multiple Choice (Single Answer)

The rocker bottom feet is a major symptom of

  1. trisomy 13
  2. trisomy 18
  3. trisomy 21
  4. trisomy 15
Question 11 Multiple Choice (Single Answer)

Which among the following is caused by microdeletion of chromosome 22q11.2?

  1. Velo-cardio-facial syndrome
  2. Fragile X syndrome
  3. Rett syndrome
  4. Bloom syndrome
Question 12 Multiple Choice (Single Answer)

Which of the following disorders is caused by mutation in ATM gene?

  1. Thrombophilias
  2. Hemophilias
  3. Ataxia-telangiectasia
  4. Hemoglobinopathies
Question 13 Multiple Choice (Single Answer)

Which among the following is an autosomal recessive disease?

  1. Acute intermittent porphyria
  2. Leber hereditary optic neuropathy
  3. Lesch-Nyhan syndrome
  4. Homocystinuria
Question 14 Multiple Choice (Single Answer)

Which among the following is caused by mutation in OPN1LW and OPN1MW genes?

  1. Red-Green colour blindness
  2. Hereditary deafness
  3. Tyrosinemia
  4. Galactosemia
Question 15 Multiple Choice (Single Answer)

Which function is performed by an oncogene activated by the 8;14 translocation in Burkitt lymphoma?

  1. Cell membrane receptor
  2. Transcription factor
  3. DNA mismatch repair
  4. Cell cycle control
Question 16 Multiple Choice (Single Answer)

Microsatellite instability is associated with

  1. hereditary nonpolyposis colon cancer
  2. familial adenomatous polyposis
  3. hereditary breast cancer
  4. Neurofibromatosis
Question 17 Multiple Choice (Single Answer)

Response of non-small cell lung cancer to gefitinib is predicted by mutation in

  1. EGF receptor gene
  2. NF1 gene
  3. Myc oncogene
  4. ABL gene
Question 18 Multiple Choice (Single Answer)

A couple gone for counseling following first trimester miscarriages. As part of their evaluation, both the parents had chromosomal analysis. The father is found to have the karyotype 46, XY, inv8(p13q23). What interpretation is drawn?

  1. This is a normal variant, likely of no significance.
  2. This is an abnormal chromosome that would cause congenital anomalies if transmitted to the developing foetus.
  3. This rearrangement might cause chromosomal imbalance in developing foetus and could explain multiple miscarriages.
  4. This rearrangement might cause dicentric or acentric chromosomes in developing foetus, which would probably not be compatible with survival of the developing foetus.
Question 19 Multiple Choice (Single Answer)

A 5 year old boy with developmental delay is seen for evaluation. He has microcephaly, and his parents note that his birth weight was low. There is no known family history of similar problems. As routine karyotype is normal. His parents ask if there are additional cytogenetic tests that can be offered. What would be the suggestion to them?

  1. The chromosome study should be repeated in another laboratory.
  2. A normal karyotype rules out all detectable chromosomal abnormalities.
  3. The boy should have FISH analysis for all known microdeletions.
  4. Analysis for subtelomere deletion may detect an abnormality missed by convential chromosomal analysis.
Question 20 Multiple Choice (Single Answer)

A couple is planning to have their first child and request to speak with a genetic counselor. The woman explains that she had a sister who died in childhood with Down syndrome. There is no other family history of the condition. What is the most appropriate counseling for them?

  1. Down syndrome is generally infrequent, so there is no increased risk to this couple.
  2. If her sister's karyotype analysis cannot be done, the woman herself should have chromosomal analysis.
  3. The pregnancy of the woman will be screened in the second trimester using alphafetoprotein, bhCG, and unconjugated estriol, which will be sufficient to detect Down syndrome, if it has occurred.
  4. The couple should obtain prenatal diagnosis by chorionic villus sampling or amniocentesis.
Question 21 Multiple Choice (Single Answer)

A chorionic villus sample is tested cytogenetically and found to have trisomy 15. This is followed up with a normal amniocentesis. Which interpretation is drawn?

  1. The fetus likely has trisomy 15, and maternal cell contamination probably explains the normal amniocensis.
  2. The fetus will likely be normal, and confined placental mosaicism probably explains the abnormal CVS result.
  3. The fetus should be tested uniparental disomy of chromosome 15, given the risk of Prader -Willi or Angelman syndromes.
  4. The abnormal CVS is probably due to pseudomosaicism and the fetus is likely to be normal.
Question 22 Multiple Choice (Single Answer)

A couple went for molecular testing for prenatal diagnosis of an autosomal recessive trait. The haplotype in coupling with the mutation is found in both of them by analysis of the parents and the affected child. The analysis of chorionic villus tissue from the developing embryo reveals that the embryo inherited only the maternal haplotype in coupling with the mutation. The counselling to them would be

  1. The child will be a carrier.
  2. The child will be affected if recombination takes place in the father only.
  3. The child will be homozygous unaffected if recombination takes place in the mother.
  4. All of the above
Question 23 Multiple Choice (Single Answer)

Clinical validity is a measure of

  1. the likelihood that a mutation stated to be present is in fact present
  2. the likelihood that identification of a mutation correctly predicts presence or absence of disease
  3. the likelihood that a mutation test will successfully identify a pathogenic mutation
  4. the likelihood that an identified mutation is pathogenic vs. a benign variant
Question 24 Multiple Choice (Single Answer)

Which of the following types of mutations is not be expected to be detected in a molecular diagnostic test that is based on sequencing each exon of a gene in genomic DNA from a male suspected of having a X-linked disorder?

  1. Missense mutation
  2. Nonsense mutation
  3. Deletion of an exon
  4. Inversion of part of the gene
Question 25 Multiple Choice (Single Answer)

A sequence-based molecular diagnostic test reveals that an affected child has a missense mutation in a gene known to be associated with a dominantly-inherited disorder. The child is the first member of the family to be affected, and the disorder is associated with complete penetrance. The mutation has never been seen before, either in affected individuals or in controls. Which of the following would be the most powerful evidence that the mutation is pathogenic?

  1. Test both parents to see if the mutation is found only in the child.
  2. Determine whether the mutation affects an amino acid that is conserved in evolution.
  3. Examine the structure of the protein to see if the mutation has a major effect on protein function or not.
  4. Review the literature to see if the mutation has been reported to be pathogenic.
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