腺瘤性结肠息肉基因突变的检测

报道了腺瘤性结肠息肉（ＡＰＣ）基因突变位点的聚合酶链反应－限制性片断长度多态性分析（ＰＣＲ－ＲＦＬＰ）方法。７个家族性腺瘤性息肉病（ＦＡＰ）家系中发现１个家系有该基因１３０９－１３ｌｌ密码子区域ＡＡＡＧＡ片断的缺失，并得到了序列分析证实。通过该家系亲缘族的检查，发现了２例青年病人，其结果与纤维肠镜检查结果一致。为早期发现部分ＦＡＰ患者提供了一个简便、可靠的检测手段。本文结果也表明中国人ＦＡＰ患者存在与西方国家相同的ＡＰＣ基因的突变方式。

Detection of a gene mutation in famillal adenomatouspolyposis families by PCR-RFLP method

simple and rapid PCR-RFLP method wasused to detect a mutation hotspot of adenomatouspolyposis coli (APC) gene. Among seven familialadenomatous polyposis (FAP) families, we found in-dividuals in family FD carrying a mutated APC geneor a mutated APC allele with AAAGA deletion incodon 1 309 region. Two young affected persons intwenties were detected by screening the family FDkindred with this PCR-RFLP method. The results arein good accordanee with those of colonoscopic exami-nation. The PCR-RFLP method we establishedproves to be a reliable and simple technique for earlydetection of some FAP patients. The results indicatedthe existence of same kind of APC gene mutations inChinese FAP families as those in western countries.