The genetic defect in Dubin-Johnson Syndrome is
**Core Concept**
Dubin-Johnson Syndrome is a rare genetic disorder characterized by chronic jaundice due to an inability to secrete conjugated bilirubin into the bile. This condition is caused by a defect in the ATP-binding cassette sub-family C member 2 (ABCC2) gene, also known as the multidrug resistance-associated protein 2 (MRP2).
**Why the Correct Answer is Right**
The genetic defect in Dubin-Johnson Syndrome leads to the accumulation of conjugated bilirubin in the bloodstream, resulting in jaundice. The ABCC2 gene encodes for the MRP2 protein, which is responsible for the transport of conjugated bilirubin into the bile canaliculi. Without functional MRP2, conjugated bilirubin is retained in the liver, causing a buildup of bilirubin in the blood. This leads to the characteristic symptoms of Dubin-Johnson Syndrome, including dark urine, jaundice, and liver dysfunction.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not specify the correct gene involved in Dubin-Johnson Syndrome. While it may be a related gene, it is not the primary cause of the condition.
**Option B:** This option is incorrect because it is not a known genetic defect associated with Dubin-Johnson Syndrome. It may be a distractor to test the student's knowledge of other genetic disorders.
**Option D:** This option is incorrect because it is not the correct gene involved in Dubin-Johnson Syndrome. While it may be a related gene, it is not the primary cause of the condition.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that Dubin-Johnson Syndrome is a rare genetic disorder that can be caused by a defect in the ABCC2 gene. The condition is characterized by chronic jaundice, dark urine, and liver dysfunction, and it can be diagnosed through genetic testing and liver function tests.
**Correct Answer: A. ABCC2 gene defect**