DNA Repair

Free Response

What is the consequence of mutation of a mismatch repair enzyme? How will this affect the function of a gene?

Hint:

Mutations are not repaired, as in the case of xeroderma pigmentosa. Gene function may be affected or it may not be expressed.

An adult with a history of tanning has his genome sequenced. The beginning of a protein-coding region of his DNA reads ATGGGGATATGGCAT. If the protein-coding region of a healthy adult reads ATGGGGATATGAGCAT, identify the site and type of mutation.

Hint:

This is a frameshift mutation with a deletion of an “A” in the 12th position of the coding region.

  • Patient: ATGGGGATATGGCAT
  • Normal: ATGGGGATATGAGCAT