RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS AT THE ADENOMATOUS POLYPOSIS-COLI (APC) GENE BY DIRECT PROTEIN TRUNCATION TEST

Familial adenomatous polyposis (FAP) is usually associated with protei n truncating mutations in the adenomatous polyposis coli (APC) gene. T he APC mutations are known to play a major role in colorectal carcinog enesis. For the identification of protein truncating mutations of the APC gene, we developed a rapid, sensitive, amen direct screening proce dure. The technique is based on the in vitro transcription and transla tion of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients,members of a FAP fam ily, colorectal tumors, and colorectal tumor-derived cell lines were u sed to show the effectiveness of this method. (C) 1994 Academic Press, Inc.