胃癌DNA错配修复基因hMSH2突变研究

采用ＰＣＲ、聚丙烯酰胺电泳、单链构象多态性分析及银染技术，检测３０例胃癌组织ＤＮＡ微卫星不稳定（ＭＳＩ）及ｈＭＳＨ２基因突变情况。探讨错配修复（ＭＭＲ）基因与胃癌的关系及发生的分子机制。结果显示３０例胃癌中有８例表现ＭＳＩ；有５例６次检测到ｈＭＳＨ２基因突变，其中生殖细胞突变２次，体细胞突变４次。本研究结果认为，胃癌组织ＤＮＡ中存在ＭＳＩ和ＭＲＲ基因突变。部分胃癌的发生机制可能为ＭＭＲ基因缺陷导致

STUDIES ON DNA MISMATCH REPAIR GENE HMHS2 IN GASTRIC CANCER

Using PCR single strain conformation polymorphorism and silver stain technique, we detected the DNA microsatellite instability (MSI) and the mutation of hMSH2 gene in 30 specimens of gastric cancer to study the relationship between gastric cancer and the DNA mismatch repair gene. Results: Among the 8 patients who showed MSI, 3 were detected the mutation of hMHS2 gene . hMHS2 mutations were found in 5 cases with 6 mutations, two of them were 2 germline mutations and 4 somatic mutations. Conclusion: MSI and mutation of mismatch repair gene were detected in specimens of gastric cancer. The oncogenesis mechanism of partial gastric cancer might be as following: mismatch repair gene deficiencies might make genome instable, and mutations could occur in other genes, which will lead to malignant transformations.