散发性结直肠癌PTEN基因突变与微卫星改变间的关系  

Relationship Between PTEN Gene Mutation and Microsatellite Alteration in Sporadic Colorectal Cancer

作　　者：张静[1] 滕蕾[2] 战玉竹[2] 

机构地区：[1]青岛大学医学院学生工作办公室,山东青岛266021 [2]青岛大学医学院生物系,山东青岛266021

出　　处：《癌变．畸变．突变》2006年第3期245-248,共4页Carcinogenesis,Teratogenesis & Mutagenesis

摘　　要：背景与目的:研究散发性结直肠癌(Sporadiccolorectalcancer,SCRC)组织中抑癌基因PTEN突变高发区外显子5、7和8的突变与人类结直肠癌基因不稳定性间的关系,以进一步研究结直肠癌的分子遗传学发病机制。材料与方法:采用聚合酶链反应(PCR)、PCR结合单链构象多态性(PCR-SSCP)技术对68例散发性结直肠癌患者的癌组织及其癌旁组织的PTEN基因第5、7和第8外显子突变情况和结直肠癌高度敏感的微卫星检测位点Bat25、Bat40及D18S21的改变情况进行检测分析。结果:微卫星改变阳性个体组中PTEN基因突变发生率为28.57%(4/14),与微卫星改变阴性个体组中PTEN基因突变发生率相比较,差异有统计学意义χ2=8.06,P<0.01,。结论:PTEN基因的突变在微卫星不稳定性结直肠癌的发生发展中产生一定的作用。BACKGROUND ＆ AEM： To determine the relationship between the mutation frequency of exon5,exon7 and exon8 of PTEN gene and microsatellite aherations（MA） and explore the pathogenesis of human sporadic colorectal cancer. MATERIAL AND METHODS： by polymerase chain reaction（PCR）, and PCR combined with single strand conformation polymorphism（PCR-SSCP） mutation was foud at exon5, exon7 and exon8 of PTEN gene and MA was detected at microsatellite loci Bat25, Bat40 and D18S21 in tumor and adjacent colorectum tissues excised from 68 cases with sporadic colorectal cancer. RESULTS： The mutation frequency of PTEN gene in MA positive group was 28.57% （4/14）, in contrast with that of MA negative group, the difference was significant （X^2= 8.06, P 〈 0.01）. CONCLUSION： Mutation of PTEN gene was significantly associated with MA in human colorectal cancer.

关 键 词：结直肠癌 杂合性缺失 微卫星不稳定性 抑癌基因 单链构象多态性 突变 

分 类 号：R730[医药卫生—肿瘤]