Medical Genetics MCQs

By: Prof. Dr. Fazal Rehman | Last updated: September 12, 2024

1. What is the fundamental unit of heredity that carries genetic information from one generation to the next? A) Chromosome B) Gene C) DNA D) RNA Answer: B) Gene 2. Which term describes the observable characteristics or traits of an individual? A) Genotype B) Phenotype C) Allele D) Karyotype Answer: B) Phenotype 3. What type of genetic inheritance pattern requires only one copy of a mutated gene to express the trait or disorder? A) Autosomal recessive B) Autosomal dominant C) X-linked recessive D) Mitochondrial Answer: B) Autosomal dominant 4. Which genetic disorder is caused by a mutation in the CFTR gene and primarily affects the respiratory and digestive systems? A) Cystic fibrosis B) Sickle cell anemia C) Huntington’s disease D) Hemophilia Answer: A) Cystic fibrosis 5. What is the expected probability of an offspring inheriting a recessive genetic disorder if both parents are carriers? A) 25% B) 50% C) 75% D) 100% Answer: A) 25% 6. Which type of genetic mutation involves the addition of one or more nucleotides in the DNA sequence? A) Deletion B) Insertion C) Substitution D) Duplication Answer: B) Insertion 7. What is the primary purpose of genetic counseling? A) To provide information about genetic disorders and risks B) To perform surgical procedures C) To administer medications D) To conduct psychological assessments Answer: A) To provide information about genetic disorders and risks 8. What genetic condition is characterized by the presence of an extra chromosome 21? A) Turner syndrome B) Down syndrome C) Klinefelter syndrome D) Edwards syndrome Answer: B) Down syndrome 9. Which type of inheritance pattern involves a gene located on the X chromosome and manifests in females only if both X chromosomes carry the mutation? A) X-linked dominant B) X-linked recessive C) Autosomal dominant D) Autosomal recessive Answer: B) X-linked recessive 10. The BRCA1 and BRCA2 genes are primarily associated with an increased risk for which type of cancer? A) Lung cancer B) Breast and ovarian cancer C) Prostate cancer D) Colon cancer Answer: B) Breast and ovarian cancer
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