OBJECTIVETo explore the characteristics of adenomatous polyposis coli (APC) gene germline mutations in Chinese patients with familial adenomatous polyposis (FAP).

METHODSEighteen members from nine FAP pedigrees were studied by using multiplex ligation-dependent probe amplification(MLPA) to detect large fragment deletion of APC gene. Then, PCR were performed to amplify all exons of APC gene for mutation screening by denaturing high performance liquid chromatography (DHPLC). When abnormal elution profile of DHPLC was found, DNA sequencing was performed to determine the mutations.

RESULTSMutations were identified in three pedigrees among the nine pedigrees. They were c.3184_3187 del CAAA in pedigree 2, c.5432C to T in pedigree 4 and c.3925_3929 del AAAAG in pedigree 9 respectively. Among them, c.5432C to T was novel.

CONCLUSIONAPC gene germline mutations can cause the development of FAP. The FAP patients without APC gene germline mutations could be caused by other mechanisms.