Question:

Which of the following is associated with a defect in mismatch repair?

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Think about which DNA repair pathway corrects base mismatches introduced during DNA replication.
Updated On: Jun 23, 2026
  • Hereditary NPCC
  • SCID
  • Bloom Disorder
  • MUTYH Associated Polyposis
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The Correct Option is A

Solution and Explanation

Step 1: Understand DNA repair mechanisms.
The cell has multiple DNA repair systems, each handling specific types of DNA damage.

Step 2: Classify repair mechanisms and associated diseases.
  • Non-Homologous End Joining (NHEJ): Repairs double-strand breaks -- defects cause SCID and RS-SCID.
  • Homologous Recombination (HR): Repairs double/single strand breaks and intrastrand crosslinks -- defects cause Werner Syndrome.
  • Nucleotide Excision Repair (NER): Repairs bulky adducts and pyrimidine dimers -- defects cause Xeroderma Pigmentosa, Cockayne Syndrome, Trichothiodystrophy.
  • Base Excision Repair (BER): Repairs abasic sites -- defects cause MUTYH-associated Polyposis.
  • Mismatch Repair (MMR): Corrects base mismatches during replication -- defects cause Hereditary Non-Polyposis Colorectal Cancer (HNPCC) / Lynch Syndrome.

Step 3: Answer the question.
Hereditary NPCC (Hereditary Non-Polyposis Colorectal Cancer / Lynch Syndrome) results from defects in mismatch repair genes (MLH1, MSH2, MSH6, PMS2).

Answer: Hereditary NPCC

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