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Genetics and Genetic Disorders

Covers mutation types, genetic diseases, immunological genetics, and molecular biology techniques

20 Questions Published
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Questions

Question 1 Multiple Choice (Single Answer)

Which of the following types of mutation is most likely to lead to premature termination of translation?

  1. Single base change in a promoter
  2. Deletion of an entire gene
  3. Deletion of three bases from DNA
  4. Insertion of single base into DNA
  5. Transition
Question 2 Multiple Choice (Single Answer)

Homologous repeats are involved in which of the following types of mutation?

  1. Large deletions
  2. Silent mutation
  3. Repeat expansion
  4. Frameshift mutation
  5. Missense mutations
Question 3 Multiple Choice (Single Answer)

Which of the following is most likely to be a conservative mutation?

  1. CAA to TAA
  2. ATT to TAA
  3. CCT to GCT
  4. ATA to AAA
  5. ATC to GTC
Question 4 Multiple Choice (Single Answer)

Exon skipping is characteristic of a mutation in which of the following locations?

  1. Promoters
  2. Entire gene
  3. Exon
  4. Intron
  5. Codon
Question 5 Multiple Choice (Single Answer)

Mendelian susceptibility to mycobacterial infection does not involve the gene for

  1. IFNgR1
  2. IL-12 p40
  3. IFNgR2
  4. MEFV
  5. IL-12RbI
Question 6 Multiple Choice (Single Answer)

X-linked agammaglobulinemia results from a mutation in which of the following genes?

  1. IFNg receptor
  2. The CIITA promoter protein
  3. An HLA gene
  4. CD40L (CD154)
  5. A tyrosine kinase gene
Question 7 Multiple Choice (Single Answer)

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder that causes red blood cells to break down sooner than they should. It generally results from deficiency in

  1. myeloperoxidase
  2. decay accelerating factor (DAF)
  3. classical pathway C components
  4. C1 inhibitor
  5. C8
Question 8 Multiple Choice (Single Answer)

Mutations in the gammac chain of the receptors for IL-2, 4, 7, 9 and 15 can lead to which of the following diseases?

  1. Reticular dysgenesis
  2. Bare lymphocyte syndrome
  3. Hyper-IgM syndrome
  4. Severe combined immunodeficiency
  5. Build-up of toxic nucleotide metabolites
Question 9 Multiple Choice (Single Answer)

Cells duplicate and condense their DNA prior to entering mitosis which occurs when mixing lymphocytes of two individuals

  1. in the presence of mitomycin C
  2. in the presence of anti-CD4
  3. who are identical twins
  4. of differing MHC class II haplotype
  5. of differing MHC class I, but identical MHC class II, haplotype
Question 10 Multiple Choice (Single Answer)

Which of the following immunosuppressive drugs probably attacks DNA by alkylation and cross-linking?

  1. Azathioprine
  2. Cyclophosphamide
  3. Cyclosporine
  4. Rapamycin
  5. Prednisone
Question 11 Multiple Choice (Single Answer)

A doctor told a couple that their son is suffering from a disease resulting from the deletions in the T-cell CD154 (CD40L) gene. Which of the following diseases must the doctor be referring to?

  1. Hyper-IgM syndrome
  2. Congenital X-linked agammaglobulinemia
  3. IgA deficiency
  4. Wiskott-Aldrich syndrome
  5. Deficiency in cytotoxic T-cell activity
Question 12 Multiple Choice (Single Answer)

Which of the following parts of DNA contain genes capable of coding for ribosomal RNA?

  1. Telomeres
  2. Stalks of acrocentric chromosomes
  3. Centromeres
  4. Dark G-bands
  5. Light I bands
Question 13 Multiple Choice (Single Answer)

In biology, gene is regarded as the basic biological unit of heredity. It can be selectively transfected by

  1. X-irradiation
  2. antisense RNA
  3. liposome transfection with a normal gene
  4. homologous recombination
  5. electroporation with a normal gene
Question 14 Multiple Choice (Single Answer)

A doctor advised a couple for carrier screening for Gaucher disease. Unfortunately, both were found to be carriers of the N370S mutation. If a child inherits the mutation from both the parents, then the most likely phenotype would be

  1. Parkinson's disease
  2. Gaucher disease type 3
  3. Gaucher disease type 2
  4. Gaucher disease type 1
  5. Normal
Question 15 Multiple Choice (Single Answer)

Stem cells are mother cells that have the potential to become any type of cell in the body. The putative murine stem cell is positive for

  1. Sca-1
  2. CD8
  3. Gr-1
  4. Mac-1
  5. B220
Question 16 Multiple Choice (Single Answer)

Thymidine dimers are usually the consequence of

  1. ultraviolet light exposure
  2. radiation exposure
  3. chemical exposure
  4. advanced paternal age
  5. chemotherapy
Question 17 Multiple Choice (Single Answer)

Rakesh is suffering from a genetic disorder named sickle-cell anaemia in which RBCs are shaped like a sickle. Which of the following mutations is a cause of sickle-cell anaemia?

  1. Insertion mutation
  2. Missense mutation
  3. Silent mutation
  4. Nonsense mutation
  5. Point mutation
Question 18 Multiple Choice (Single Answer)

Introduction of genes coated with gold microparticles into a cell by firing them at high speeds is known as

  1. mutation
  2. transfection
  3. biolistics
  4. homologous recombination
  5. electroporation
Question 19 Multiple Choice (Single Answer)

Arthus reaction is characterised by an intense infiltration by which of the following cells in the body?

  1. Mast cells
  2. Neutrophils
  3. Eosinophils
  4. Macrophages
  5. Langerhans' cells
Question 20 Multiple Choice (Single Answer)

A defect in which of the following leads to DiGeorge syndrome?

  1. Purine nucleoside phosphorylase
  2. WASP
  3. Thymic development
  4. DNA repair
  5. CD3
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