聚合酶链式反应-单链构象多态性分析法检测大肠腺瘤及大肠癌APC基因突变  

Mutations of APC gene MCR region in sporadic colorectal adenomas and carcinomas

作　　者：王艳[1,2,3,4] 刘士良[1,2,3,4] 郝冬梅 庄宝珠[1,2,3,4] 张学 傅宝玉[1,2,3,4] 

机构地区：[1]中国医科大学第三临床学院消化内科 [2]中国医科大学第一临床学院消化内科 [3]中国医科大学分子遗传室 [4]解放军第二○二医院计划生育研究室

出　　处：《中华肿瘤杂志》1998年第4期284-286,共3页Chinese Journal of Oncology

摘　　要：目的对１５例散发性大肠腺瘤组织和４５例大肠癌组织及其各自的正常肠粘膜组织，进行家族性腺瘤息肉病基因（ａｄｅｎｏｍａｔｏｕｓｐｏｌｙｐｏｓｉｓｃｏｌｉ，ＡＰＣ）第１５外显子ＭＣＲ区域的基因突变检测。方法应用聚合酶链式反应单链构象多态性分析（ＰＣＲＳＳＣＰ）技术进行检测。结果在散发性大肠腺瘤组织中检出突变率为２０．０％（３／１５），在大肠癌组织中的突变率为２２．２％（１０／４５）。实验结果表明，ＡＰＣ基因在散发性大肠腺瘤与大肠癌中均有较高突变频率，两者差异无显著性；ＡＰＣ基因突变在大肠癌中与肿瘤的大小、位置、组织分化程度和有无淋巴结转移无关；ＡＰＣ基因第１５外显子的ＭＣＲ区域是该基因突变的集中区域，且以１３３９～１４３６密码子区域突变率最高，１２６０～１３５９密码子区域突变率最低。结论证实了ＡＰＣ基因突变发生于腺瘤形成阶段，属于大肠癌发生的早期事件。Objective Fifteen specimens of colorectal adenomas and 45 specimens of carcinomas and each of their normal mucosa were analyzed for the APC gene exon 15 MCR(mutation cluster region). Methods Gene mutation was examined by PCR SSCP technique. Results In three out of 15 cases of adenomas(20.0%) and 10 out of 45 cases of carcinomas(22.2%), mutations at MCR was detected. In colorectal carcinoma, APC gene mutation was not related to size, location, histologic features and lymph node metastases. In MCR region, 1260～1359 codons gave a lowest mutation frequency, while 1339～1436 codons showed the highest mutation frequency. Conclusion APC gene mutation detected in colorecral adenomas indicates that the APC gene mutation is an early event in colorectal carcinogenesis. It helps early diagnosis of colorectal carcinoma.

关 键 词：大肠肿瘤 腺瘤 PCR-SSCP APC基因 基因突变 

分 类 号：R735.340.4[医药卫生—肿瘤]