Gene for Wilson’s disease is located on chromonsome –
## **Core Concept**
Wilson's disease, also known as hepatolenticular degeneration, is a genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. This condition is inherited in an autosomal recessive manner. The gene responsible for Wilson's disease plays a crucial role in copper transport and excretion.
## **Why the Correct Answer is Right**
The correct answer is related to the identification of the specific chromosome where the gene for Wilson's disease is located. Wilson's disease is caused by mutations in the **ATP7B gene**, which is responsible for encoding a protein that plays a critical role in regulating the transport of copper in the liver. This gene is located on **chromosome 13**. The ATP7B protein is involved in the excretion of excess copper from the liver into the bile and also in the incorporation of copper into ceruloplasmin, a copper-carrying protein in the blood.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Chromosome 1 is not associated with Wilson's disease. While chromosome 1 is the largest human chromosome and carries many important genes, the gene for Wilson's disease is not located here.
- **Option B:** Chromosome 2 does not carry the gene for Wilson's disease. This chromosome, like chromosome 1, is involved in carrying numerous genes but is not the location of the ATP7B gene.
- **Option D:** Chromosome 14 is also not the correct location for the Wilson's disease gene. This chromosome carries genes for various conditions but not Wilson's disease.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for Wilson's disease is the presence of **Kayser-Fleischer rings**, which are copper deposits in the cornea of the eye, and the association with **liver disease** and **neurological symptoms**. Early diagnosis and treatment can significantly improve outcomes.
## **Correct Answer:** . 13