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通过人类错配修复基因(hMLH1)启动子CpG岛甲基化与微卫星不稳定性(MSI)的分析,探讨癌症发病的机制。错配修复基因hMLH1启动子CpG岛甲基化是hMLH1基因失活的重要机制,而hMLH1的表达失活则可导致MSI的产生,促进癌症的发生。根据一系列研究得出结论,在肿瘤组织中hMLH1基因启动子CpG岛甲基化和微卫星不稳定(MSI)有显著相关性,并在癌症早期发生、发展过程中起重要作用。因此临床检测hMLH1基因启动子CpG岛甲基化及微卫星不稳定可能成为癌症鉴别诊断、评价预后、指导化疗的分子标志物之一。
Through the analysis of CpG island methylation and microsatellite instability (MSI) of human mismatch repair gene (hMLH1) promoter, the mechanism of cancer pathogenesis was explored. Mismatch repair gene hMLH1 promoter CpG island methylation is an important mechanism of hMLH1 gene inactivation, while the expression of hMLH1 inactivation can lead to the generation of MSI, promote cancer. According to a series of studies, it is concluded that there is a significant correlation between CpG island methylation and microsatellite instability (MSI) of hMLH1 promoter in tumor tissues and plays an important role in the early development and progression of cancer. Therefore, clinical detection of hMLH1 promoter CpG island methylation and microsatellite instability may become cancer differential diagnosis, evaluation of prognosis, one of the molecular markers guiding chemotherapy.