MUTATION DETECTION IN EXON-14 OF THE ADENOMATOUS POLYPOSIS-COLI GENE - IDENTIFICATION OF AN ALTERNATIVELY SPLICED TRANSCRIPT

Mutations in the APC gene are responsible for the dominantly inherited colon cancer syndrome, familiar adenomatous polyposis (FAP). We have designed PCR primers which allow amplification by RT-PCR of exons 1-14 of the APC gene in six overlapping segments. The amplicons have been screened for the presence of mutations in patients affected with FAP u sing heteroduplex analysis. One patient has been identified with an al ternatively spliced transcript involving exon 14 and a single base ins ertion mutation within the same exon. (C) 1996 Academic Press Limited