肝癌患者β-catenin基因第三外显子的体细胞突变  

Somatic mutations on exon 3 of the β-catenin gene in human hepatocellular carcinoma

作　　者：游海燕[1] 姚根富[1] 于彬[1] 张海涛[1] 余艳军[1] 谢丽[1] 覃文新[1] 

机构地区：[1]上海交通大学医学院上海市肿瘤研究所癌基因及相关基因国家重点实验室,上海200032

出　　处：《肿瘤》2005年第5期430-433,444,共5页Tumor

基　　金：国家"十五"攻关重大项目(编号:2002BA711A02-1)国家973计划项目(编号2002CB513100-4)

摘　　要：目的探讨中国地区人肝癌发生发展过程中有无β-catenin基因突变。方法采用PCR-SSCP方法,设汁扩增β-catenin 基因第三外显子的引物,检测20例肝癌患者及7株人肝癌细胞中有无β-catenin基因突变,并通过DNA测序及限制性内切酶对突变加以验证。结果20例肝癌患者中有2例发生β-catenin基因突变,均为41位密码子由编码苏氨酸变成编码丙氨酸。7株人肝癌细胞均无β-catenin基因突变。结论10%(2,20)的肝癌组织样品有β-catenin基因突变。提示β-catenin基因突变可能参与了部分肝癌癌变过程,但不是中国地区肝癌发生发展过程中的主要和关键原因。Objective To study whether the mutations of β-catenin gene were involved in tumor progression of hepatocarcinogenesis in patients with hepatocellular carcinomas （HCCs） from China. Methods Mutation statuses on exon 3 of β-catenin gene were analyzed by PCR SSCP technique for the 20 patients with HCC and 7 cell lines of human HCC, The above results were confirmed using DNA sequencing and restriction enzyme digestion. Results Mutations on exon 3 of the β-catenin gene were demonstrated from 2 of 20 patients and were not detected in 7 HCC lines. The codon 41 mutation occurred （ACC→GCC, Thr→Ala）. Conclusion Our results reveal that the mutation of β-catenin gene is involved in some HCC patients. However, the mutation of β-catenin gene may not be a key reason in tumor progression of hepatocarcinogenesis in Chinese patients.

关 键 词：肝肿瘤 Β-CATENIN 单链构象多态性 突变 

分 类 号：R735.7[医药卫生—肿瘤]