Match List I with List II and select the correct answer using the code given below the Lists: List I (Genetic disorder) List II (Gene defect) A. Familial breast cancer 1. FGFR B. Marfan's syndrome 2. FBN-1 C. Cystic fibrosis 3. BRCA-1 D. Achondroplasia 4. CFTR
Genetic Disorders and Gene Defects Matching Solution
Understanding the Matches
This solution details the correct pairings between specific genetic disorders and the gene defects responsible.
- Familial breast cancer is primarily linked to mutations in the BRCA-1 gene.
- Marfan's syndrome is caused by defects in the FBN-1 gene.
- Cystic fibrosis is a result of mutations in the CFTR gene.
- Achondroplasia is associated with mutations in the FGFR (Fibroblast Growth Factor Receptor) gene.
Determining the Correct Code
Matching List I (Genetic disorder) with List II (Gene defect) yields the following correct pairs:
- A. Familial breast cancer - 3. BRCA-1
- B. Marfan's syndrome - 2. FBN-1
- C. Cystic fibrosis - 4. CFTR
- D. Achondroplasia - 1. FGFR
Based on these pairings, the correct code is A-3, B-2, C-4, D-1.
Important Questions from Congenital Disorders
Which of the following is NOT a maternal risk factor for the development of a neural tube defect?
- Trisomy 13 is also known as:
- Which one of the following is a type of glycogen storage disease?
Which of the following biochemical tests for the detection of aneuploidies is performed in the first trimester of pregnancy?
Which of the following is NOT a birth defect related to a disorder in the development of the whole eyeball?
