大肠癌组织中抑癌基因APC突变的研究

为了解肿瘤抑制基因ＡＰＣ基因在大肠癌中突变的规律。方法应用聚合酶链反应┐单链构象多态性技术（ＰＣＲ┐ＳＳＣＰ）对３０例人大肠癌组织ＡＰＣ基因１５号外显子的三个区１５┐６、１５┐７、１５┐８进行了检测。检测步骤主要包括人基因组ＤＮＡ提取、ＰＣＲ反应扩增及ＰＣＲ产物的ＳＳＣＰ分析。结果检查结果显示在第１５┐６及１５┐７片段上共１０例发生了突变，突变率为３３．３％。突变的１０例中有８例发生于１５┐７外显子片段，占突变总数８０％（８／１０），２例发生于１５┐６片段，占突变总数的２０％（２／１０）。结论证明我国大肠癌患者中存在着ＡＰＣ基因的突变，且１５┐７片段是突变集中区。

DETECTION OF MUTATED APC GENE IN SPORADIC COLORECTAL TUMORS

APC gene is a tumor suppressor gene and may play a key role in the development of colorectal tumors.In order to understand the relationship between the mutations of APC gene and the development of sporadic colorectal tumors, 30 specimens were analyzed.Methods:PCR SSCP method was used to detect the mutations on three fragments(15 6,15 7,15 8)of exon 15 on APC gene.Results:10/30 cases (33.3%) showed variant band indicative of mutation, and 8/10(80%)mutatios occurred in the fragment 15 7.Conclusions:The results indicated that there was a presence of mutation on APC gene in Chinese colorectal tumors, and the fragment 15 7 is a mutation cluster region.