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
- To prevent recurrence, expectant mothers with a previous fetus with neural tube defect should receive folic acid daily at the dose of :
Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies:
1. It is carried out on maternal blood.
2. It is done before 10 weeks gestation.
3. It has a negative predictive value of about 98%.
4. Invasive testing is needed for confirmation of a positive test.
Which of the statements given above are correct?
- The risk of Down syndrome is 100% in the offspring, if:
Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code given below:
- To reduce the risk of neural tube defects in the baby, which of the following are recommended?
