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目的 探讨 RIT1基因突变和扩增在肝细胞癌 (hepatocellular carcinoma,HCC)的发生情况及其与发病的关系。 方法 采用 PCR直接测序法检测 5 0例原发性 HCC患者的肝癌组织和非癌肝组织RIT1基因在所包含的 6个外显子的全序列寻找突变位点 ;并用荧光定量 PCR法检测 RIT1基因的扩增情况。 结果 在 5 0例肝癌组织中 1例出现第 5外显子编码区 2 4 1位核苷酸 G/ C变异 ,其对应密码子改变为GAG81CAG,编码氨基酸改变为 Glu81Gln,该氨基酸变异位于 GTP结合的保守功能域内 ,该病例的非癌肝组织以及其余 4 9例的肝癌组织和非癌肝组织均未发生此种改变 ;在 5 0例肝癌组织和非癌肝组织中均出现 5′- UTR(起始密码子前 2 1位核苷酸 ) G/ C变异 ;在获得有效扩增数据的 4 3例肝细胞癌患者中 ,11例有 2～2 97倍的 RIT1基因扩增 ,扩增率为 2 5 .6 %。 结论 基因扩增是 RIT1基因在肝细胞癌的激活方式之一 ,可能与肝细胞癌的发病有关 ,而点突变方式可能意义不大。
Objective To investigate the relationship between the RIT1 gene mutation and amplification in hepatocellular carcinoma (HCC) and its pathogenesis. Methods PCR-direct sequencing was used to detect the RIT1 gene in 50 HCC patients with HCC and 6 non-cancerous liver tissues. The RIT1 gene was detected by fluorescent quantitative PCR The amplification situation. Results In 50 cases of HCC tissues, there was a nucleotide G / C mutation at nucleotide position 241 of coding exon 5, the corresponding codon was changed to GAG81CAG, the encoded amino acid was changed to Glu81Gln, and the amino acid mutation was located at GTP binding Of the non-cancerous liver tissues, as well as the other 49 non-cancerous liver tissues and non-cancerous liver tissues. No such changes occurred in 50 cases of HCC and non-cancerous liver tissues (The first 21 nucleotides before the start codon) G / C variation. Of the 43 patients with hepatocellular carcinoma who obtained valid amplification data, 11 had 2 to 2 97 times more RIT1 gene amplification and amplification The rate was 25.6%. Conclusion Gene amplification is one of the ways of RIT1 gene activation in hepatocellular carcinoma, which may be related to the pathogenesis of hepatocellular carcinoma. The point mutation may not be significant.