Familial adenomatous polyposis (FAP) is an inherited disorder characterized by c

Question

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine. People with the classic type of FAP may begin to develop multiple noncancerous (benign) growths in the colon as early as their teenage years. Unless the colon is removed, these growths will become malignant (cancerous). The average age at which an individual develops colon cancer in classic FAP is 39 years. The disease is caused by mutations in MUTYH, a gene encoding a DNA repair enzyme. Mutant alleles of MUTYH exhibit autosomal recessive inheritance. The disease is relatively common, affecting 1 in 7,000 adults. One of the most common mutant alleles of the MUTYH gene contains an insertion of 142 nucleotides in the coding sequence.Three sisters in their teens have an older brother who was diagnosed with FAP, but neither parent, now in their 60s, has the disease. A genetic test revealed that the brother developed the disease because he is homozygous for the common insertion allele of MUTYH.

Explanation / Answer

ANS) this is a trick question. PCR + gel electrophoresis cannot be used to test for insertion.

Explain:- For detection of FAP, two method is used for detection of mutation.

1)  protein truncation test,

2) direct DNA sequencing.

Gene testing should be done with family member with FAP.

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