散发性胃癌中BRCA1基因突变研究  

Study on the Mutation of BRCA1 Gene in Sporadic Gastric Cancer

作　　者：朱宏伟[1] 岳秀兰[1] 杨文杰[1] 曹虹然[2] 白雪峰[2] 

机构地区：[1]包头医学院生物化学教研室,内蒙古包头014010 [2]包头市第七医院

出　　处：《包头医学院学报》2008年第5期441-444,451,共5页Journal of Baotou Medical College

基　　金：内蒙古卫生厅立项;项目号2006067

摘　　要：目的:检测BRCA1基因第2外显子、第11外显子和第20外显子在胃癌中的突变情况,探讨其与胃癌发病的关系。方法:采用PCR-SSCP(聚合酶链反应-单链构象多态性分析)结合银染的方法,对45例无血缘关系的胃癌患者BRCA1基因第2、11、20外显子进行突变检测。结果:在外显子2、11、20的序列中未发现有突变。结论:在Ashkenazi犹太妇女中发现的两个突变热点185delAG和5382insC以及在家族性乳腺癌中报道较多的3232A突变为G(导致1038号密码子由Glu变为Gly)的三个突变点,可能对中国人群散发性胃癌的发生影响不大,有待于继续研究探讨中国散发性胃癌与BRCA1基因突变的关系。Objective： To study the relationship between BRCA1 mutation and occurrence of gastric cancer by determining the mutation in three exons of BRCAl gene in sporadic gastric cancer. Methods：A series of 45 patients with gastric cancer without blood relationship to each other were randomly selected for determining the mutation of exons 2, 11 and 20 of BRCA1 by using Polymerase chain reaction（PCR） and Singlestrand conformational polymorphism （SSCP） method. Results：No mutations were found in exons 2,11, and 20. Conclusion ： 185 delAG and 5382insc which arc high mutation sites in Ashkenazi Jewish women and 3232A mutation G which is reported in Chinese familial breast cancer do not account much for the occurrence of sporadic gastric cancer in the population of China . The possible relationship is to be confirmed by further study.

关 键 词：胃癌 BRCA1 PCR—SSCP 

分 类 号：R735.2[医药卫生—肿瘤]