Question

Which of the following is associated with defect in mismatch repair

• A. Hereditary NPCC
• B. SCID
• C. Bloom Disorder
• D. MUTYH Associated Polyposis

Answer 1

The Correct Option is A

The question asks which condition is associated with a defect in mismatch repair. Mismatch repair is a system within the cell responsible for correcting errors that occur during DNA replication. A defect in this system can lead to genetic diseases.

Let's examine each option:

• Hereditary NPCC (Non-Polyposis Colorectal Cancer): Also known as Lynch syndrome, is characterized by a higher risk of colorectal cancer due to inherited mutations affecting mismatch repair proteins. Therefore, Hereditary NPCC is associated with a defect in mismatch repair.
• SCID (Severe Combined Immunodeficiency): This is a group of rare disorders caused by mutations affecting T and B lymphocytes. It is not related to mismatch repair.
• Bloom Disorder: A rare genetic disorder that is marked by increased susceptibility to various cancers but is caused by mutations affecting DNA helicase, not mismatch repair.
• MUTYH Associated Polyposis: Involves mutations in the MUTYH gene affecting DNA repair, but it is not specifically a mismatch repair defect.

Based on the explanations, the condition associated with a defect in mismatch repair is Hereditary NPCC.