家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传性疾病,具有很高的癌变倾向。最近,已研究确认位于染色体5921上的APC基因与FAP有关。本文采用了简便快速的PCR技术作为无症状人员的筛检方法检测了12个位点上的突变,这些突变在95例不相关的FAP患者中约占APC基因种系突变的40％。方法是从12例携带有不同种系突变的不相关的FAP家族成员中抽血提取白细胞制备基因组DNA,形 Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease, with a high tendency to cancer. Recently, it has been confirmed that the APC gene located on chromosome 5921 is related to FAP. In this study, simple and rapid polymerase chain reaction (PCR) was used as a screening method for asymptomatic persons to detect mutations in 12 loci. These mutations accounted for about 40% of APC gene germline mutations in 95 unrelated FAP patients. The method is to extract genomic DNA from leukocytes extracted from 12 unrelated FAP family members carrying different germline mutations