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目的：探讨国人家族性腺癌性息肉病（FAP）患者APC基因胚系突变的规律。方法：运用PCR－SSCP法对15个FAP家系18例患者的APC基因4个片断的胚系突变情况进行检测。结果：6例来自不同家系的患者存在突变，其中一个患者在3个片段有突变，另一个患者在两个片断有突变。结论：此方法具有简便、快速、敏感、经济和无同位素污染等特点，可望成为FAP症前及产前基因诊断的新技术。
Objective: To investigate the germline mutation of APC gene in Chinese patients with familial adenocarcinoma of polyposis (FAP). Methods: PCR-SSCP method was used to detect the germline mutations in four segments of APC gene in 15 FAP families. RESULTS: There were 6 mutations in patients from different families. One of the patients had mutations in three segments and the other had mutations in two segments. Conclusion: This method is simple, rapid, sensitive, economical and free of isotope contamination. It is expected to be a new technique for pre- and prenatal diagnosis of FAP.