The gene for Wilson’s disease is on –
The core concept here is the chromosomal location of the ATP7B gene. I remember that Wilson's disease is caused by mutations in the ATP7B gene. Now, where is this gene located? I think it's on chromosome 13, but wait, I should double-check. Some other autosomal recessive diseases have genes on different chromosomes. For example, cystic fibrosis is on chromosome 7, and sickle cell anemia is on 11.
The correct answer should be chromosome 13. Let me confirm. Yes, ATP7B is located on chromosome 13q14.3. That's the long arm of chromosome 13. The options given in the question are missing, but the correct answer is chromosome 13.
Now, why are other options incorrect? If any of the options listed other chromosomes like 7, 11, or 21, those would be wrong. For example, chromosome 21 is associated with Down syndrome, which is a trisomy. Chromosome 7 has the CFTR gene for cystic fibrosis. Chromosome 11 has the HBB gene for beta-globin.
The clinical pearl here is that Wilson's disease is linked to copper accumulation due to defective ATP7B. Remembering the chromosome 13 is key for exams. So the correct answer is chromosome 13.
**Core Concept**
Wilson's disease is an autosomal recessive disorder caused by mutations in the **ATP7B gene**, which encodes a copper-transporting ATPase. This protein is crucial for biliary copper excretion and copper incorporation into ceruloplasmin. The gene is located on **chromosome 13q14.3**.
**Why the Correct Answer is Right**
The ATP7B gene is on **chromosome 13q14.3**. Mutations here impair copper transport, leading to copper accumulation in the liver, brain, and cornea. This results in hepatolenticular degeneration, Kayser-Fleischer rings, and neurologic/psychiatric symptoms. The gene’s location is critical for genetic counseling and diagnostic testing.
**Why Each Wrong Option is Incorrect**
**Option A:** Chromosome 7 hosts the CFTR gene (cystic fibrosis) and TP53 (Li-Fraumeni syndrome).
**Option B:** Chromosome 11 contains the HBB gene (beta-thalassemia) and the TSC1 gene (tuberous sclerosis).
**Option C:** Chromosome 21 is linked to Down syndrome (trisomy 21).
**Clinical Pearl / High-Yield Fact**
Remember: “Wilson’s is on 13, like the unlucky chromosome.” ATP7B’s role in copper homeostasis is a classic exam topic—link it to Kayser-Fleischer rings and penicillamine treatment.
**Correct Answer: C. Chromosome 13**