title: [Detection of a gene mutation in familial adenomatous polyposis families by PCR-RFLP method].
abstract: A simple and rapid PCR-RFLP method was used to detect a mutation hotspot of adenomatous polyposis coli (APC) gene. Among seven familial adenomatous polyposis (FAP) families, we found individuals in family FD carrying a mutated APC gene or a mutated APC allele with AAAGA deletion in codon 1,309 region. Two young affected persons in twenties were detected by screening the family FD kindred with this PCR-RFLP method. The results are in good accordance with those of colonoscopic examination. The PCR-RFLP method we established proves to be a reliable and simple technique for early detection of some FAP patients. The results indicated the existence of same kind of APC gene mutations in Chinese FAP families as those in western countries.
authors.affiliation: Cancer Institute, Zhejiang Medical University, Hangzhou.
authors.forename: Y B
authors.initials: YB
authors.lastname: Gan
authors.forename: S
authors.initials: S
authors.lastname: Zheng
authors.forename: X H
authors.initials: XH
authors.lastname: Cai
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D044466:Asian People; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D017491:Genes, APC / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
chemical_list: D004247:DNA