Germline mutation of aclenomatous polyposis coil gene in Chinese patients with familial aclenomatous polyposis

Objective To explore the characteristics of adenomatous polyposis coli （APC） gene getmline mutations in Chinese patients with familial adenomatous polyposis （FAP）. Methods Eighteen members from nine FAP pedigrees were studied by using multiplex ligafion-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 elufion profile of DHPLC was found, DNA sequencing was performed to determine the mutations. Results Mutations were identified in three pedigrees among the nine pedigrees. They were c.3184 _ 3187 del CAAA in pedigree 2, c.5432C 〉 T in pedigree 4 and c.3925 _ 3929 del AAAAG in pedigree 9 respectively. Among them, c. 5432C 〉 T was novel. Conclusion APC gene germline mutations can cause the development of FAP. The FAP patients without APC gene gennline mutations could be caused by other mechanisms. Key words: familial adenomatous polyposis;  adenomatous polyposis coli gene;  germline mutation