论文部分内容阅读
目的：检测散发大肠癌患者的ｈＭＳＨ２基因突变及基因组ＤＮＡ不稳定，以探讨与其发生的关系。方法：ＰＣＲ、ＳＳＣＰ和ＤＮＡ序列分析用于检测３５例大肠癌患者ｈＭＳＨ２突变和微卫星不稳定。结果：５例患者发现生殖系细胞ｈＭＳＨ２突变（外显子７２例，８２例，１５１例），２例肿瘤细胞ｈＭＳＨ２突变（外显子７和８各１例），３例ＤＮＡ序列分析有２例为错义突变，１例为同义突变。微卫星不稳定在９例患者存在。结论：大肠癌中存在ｈＭＳＨ２基因突变和微卫星不稳定，与大肠癌的发生密切相关。
Objective: To detect the hMSH2 gene mutation and genomic DNA instability in patients with sporadic colorectal cancer, and to explore the relationship with it. Methods: PCR, SSCP and DNA sequence analysis were used to detect hMSH2 mutation and microsatellite instability in 35 patients with colorectal cancer. RESULTS: Five patients were found to have hMSH2 mutations in the germline (72 exons, 82 cases, 151 cases), 2 hMSH2 mutations in the tumor cells (exon 7 and 8 in 1), and 3 DNA sequence analyses had 2 Cases are missense mutations, and 1 case is a synonymous mutation. Microsatellite instability exists in 9 patients. Conclusion: The presence of hMSH2 gene mutation and microsatellite instability in colorectal cancer is closely related to the occurrence of colorectal cancer.