结肠癌PTEN基因点突变的PCR-SSCP检测

DETECTION OF POINT MUTATIONS OF PTEN GENE BY PCR-SSCP IN CANCER OF THE COLON

①目的 探讨PTEN基因突变在结肠癌发病机制中的作用。②方法 采用聚合酶链反应 (PCR)、结合单链构象多态性分析 (PCR SSCP) ,对 34例散发性结肠癌病人的癌组织及其癌旁组织的PTEN基因第 5、7、8外显子进行点突变检测。③结果 34例结肠癌组织中有 2例检测到PTEN基因突变 ,突变率为 5 .88% ,其中exon7突变 1例 ,exon8A突变 1例 ,34例癌旁组织未检测到突变 ,二者差别无显著性 (P =0 .130 ) ;低分化腺癌及黏液癌组织中PTEN基因突变的发生率为 12 .5 % ,中、高分化腺癌中PTEN基因突变的发生率为 0 ,二者比较差异无显著性(P =0 .2 14 )。④结论 PTEN基因的突变与结肠癌的发病。

Objective To explore the role of point mutations of PTEN gene in the pathogenesis of cancer of the colon. Methods Point mutations were detected with polymerase chain reaction(PCR), and PCR combined with single strand conformation polymorphism(PCR-SSCP)at exon5, exon7, and exon8 of PTEN gene in tumors and adjacent tissues excised from 34 cases of sporadic colon cancer. Results Two PTEN mutations were found in the 34 cancer tissues. The mutation rate was 5.88%. No mutation was found in 34 the adjacent. The difference was not significant (P=0.130). The mutation rate of PTEN gene in poorly differentiated carcinoma, mucoid carcinoma and in well-differentiated carcinoma samples was 12.5% and 0, respectively. The difference was not statistically significant (P=0.214). Conclusion Mutation of PTEN gene does not play a role in the pathogenesis, development and malignancy of colon cancer.