In cystic fibrosis, transmembrane conductance regular gene on chromosome
Now, where is this gene located? I think it's on chromosome 7. Wait, but I need to be precise. Let me confirm. Yes, the CFTR gene is on chromosome 7, specifically at position 7q31.2. The question is asking about the transmembrane conductance regulator gene, which is exactly the CFTR. So the correct answer should mention chromosome 7.
Looking at the options, if they were provided, but since they aren't, I need to think of common distractors. Commonly, people might confuse it with other chromosomes like 5, 11, or 12. For example, the HBB gene for beta-globin is on 11, and the FBN1 gene for Marfan syndrome is on 15. So options like 5, 11, or 15 would be incorrect.
The core concept here is the genetic basis of cystic fibrosis. The CFTR gene's location is a key point. The CFTR protein is a chloride channel, and mutations lead to thick mucus and the symptoms of CF. The clinical pearl here is that CFTR is on 7q31.2, so if a question mentions chromosome 7, that's the right answer. Students often mix up gene locations, so this is a high-yield fact for exams like NEET and USMLE.
So, putting it all together: the core concept is the CFTR gene on chromosome 7. The correct answer is chromosome 7. The wrong options are other chromosomes where important genes are located, but not CFTR. The clinical pearl is the exact location and the role of the gene in the disease.
**Core Concept**
Cystic fibrosis (CF) is caused by mutations in the **CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)** gene, which encodes a chloride channel regulating salt and water balance in epithelial tissues. The gene is located on **chromosome 7 (7q31.2)**, making chromosomal localization critical for genetic counseling and diagnosis.
**Why the Correct Answer is Right**
The **CFTR gene** is located on the long arm of **chromosome 7 (7q31.2)**. Mutations in this gene disrupt chloride ion transport, leading to viscous mucus accumulation in lungs, pancreas, and other organs. The gene's location is well-established through genetic mapping studies and is a hallmark of CF's autosomal recessive inheritance pattern. Chromosome 7 also houses other genes like *ABCB1* and *GSTM1*, but CFTR's specific position is unique to CF pathogenesis.
**Why Each Wrong Option is Incorrect**
**Option A:** Chromosome 5 (e.g., *APC* gene) is associated with familial adenomatous polyposis, not CF.
**Option B:** Chromosome 1