Medical Genetics Multiple choice questions

By: Prof. Dr. Fazal Rehman | Last updated: May 14, 2025

1. : A nonsense mutation is _____.
(A) The creation of a different amino acid
(B) The creation of a stop codon
(C) A regulatory sequence
(D) An AG splice acceptor site

2. : Recombination occurs in meiosis is called _____.
(A) Metaphase II
(B) Prophase I
(C) Metaphase II
(D) Prophase I

3. : Condition that shows anticipation in paternal transmission is _____.
(A) Cystic fibrosis
(B) Fragile X syndrome
(C) Huntington disease
(D) Marfan syndrome

4. : Exon skipping is _____.
(A) Silent mutations
(B) RNA processing mutations
(C) Nonsense mutations
(D) Regulatory mutations

5. : Cystic fibrosis mutation consists of _____.
(A) An insertion
(B) A substitution
(C) A deletion
(D) A duplication

6. : Abnormality risk in the child with untreated phenylketonuria is _____.
(A) 100%
(B) 10%
(C) 25%
(D) 1%

7. : Recombinant alpha-iduronidase is used for _____.
(A) Pompe disease
(B) Fabry disease
(C) Gaucher disease
(D) Hurler syndrome

8. : Cancer cells exhibit _____.
(A) Avoidance of cell death
(B) Unlimited number of cell divisions
(C) Growth without external signals
(D) All of these

9. : Repeating units of nucleic acids are _____.
(A) Bases
(B) Sugar molecules
(C) Phosphate molecules
(D) Nucleotides

10. : The presence of an extra digit is called _____.
(A) Clinodactyly
(B) Polydactyly
(C) Arachnodactyly
(D) Brachydactyly

11. : DNA requires _____.
(A) Many enzymes
(B) Sunlight
(C) Protein synthase
(D) Meiotic division

12. : The nucleosome is _____.
(A) Composed of RNA
(B) Composed of DNA and RNA
(C) Found in nucleus
(D) Found in cell wall