Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis

To explore the characteristics of adenomatous polyposis coli (APC) gene germline mutations in Chinese patients with familial adenomatous polyposis (FAP). Eighteen members from nine FAP pedigrees were studied by using multiplex ligation-dependent probe amplification(MLPA) to detect large fragment del...

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Bibliographic Details
Published inZhonghua yi xue yi chuan xue za zhi Vol. 25; no. 2; p. 199
Main Authors Wang, Ting-ting, Chen, Sen-qing, Zhang, Xiao-mei
Format Journal Article
LanguageChinese
Published China 01.04.2008
Subjects
Adenomatous Polyposis Coli - genetics
Adult
Chromatography, High Pressure Liquid
Female
Genes, APC - physiology
Genetic Predisposition to Disease - genetics
Germ-Line Mutation
Humans
Male
Middle Aged
Pedigree
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Summary:To explore the characteristics of adenomatous polyposis coli (APC) gene germline mutations in Chinese patients with familial adenomatous polyposis (FAP). Eighteen 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. Mutations 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. APC gene germline mutations can cause the development of FAP. The FAP patients without APC gene germline mutations could be caused by other mechanisms.
ISSN:1003-9406