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Microsatellite instability was found in DNA from a colon tumor specimen. Name two genes that are...

  1. Microsatellite instability was found in DNA from a colon tumor specimen. Name two genes that are likely mutated in this patient.
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Answer #1

Answer- Such kind of defects could be observed due to defect of anyone or or more of these genes- MLH1, MLH3, PMS1, PMS2, MSH2 and MSH6.

Explanation-

  • Microsatellite instability pathway is associated with colorectal carcinoma and is caused by defects in DNA associated MMR system.
  • MMR system involves a group of proteins which are responsible for detection of error during DNA replication and are also responsible for its repair.
  • Important genes responsible for MMR factors are- MLH1, MLH3, PMS1, PMS2, MSH2 & MSH6.
  • Any mutation in these genes will lead to abnormal MMR system proteins.
  • Defect in MMR system will lead to microsatellite instability.
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