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

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.