微卫星不稳定性检测技术的现状

Methodological review on current microsatellite instability analysis systems

微卫星不稳定性(MSI)现象在多种人类肿瘤中被确认,DNA 错配修复(MMR)系统缺陷可能是导致 MSI 表型的重要原因之一。MMR 系统与体内 DNA 代谢密切相关。但大量 MSI 相关研究的结论仍存在较大争议,不能排除来源于样本分子背景的差异造成结果的差异,但检测方法的偏差可能是导致结论分歧的根源。文章就 MSI 检测方法进行综述,分析了传统测序电泳放射性自显影方法存在的三种根本问题,并介绍了高通量双荧光标志 MSI 解析法(HRFMA)。该方法不仅可以对 MSI 定性判断,而且能够观察MSI 变化的特点。它的推广有助于推进 MSI 相关研究。

Microsatellite instability(MSI)phenomena were confirmed in various of human malig- nances, and was considered to be the phenotype of defected DNA mismatch repair. The tight link between DNA metabolism and DNA mismatch repair propose the potentiality of clinical utilization of MSI as a sensi- tivity marker for chemotherapy and radiotherapy. However,MSI findings by authors from different institutes diverged greatly. One regard on such a contradiction is that the discrepancy of the MSI analysis systems uti- lized might bring large bias to the results.We thus present this methodological review on current status of MSI analysis systems, and point out three unavoidable technological problems of the classical MSI analysis system which was often employed.We also introduced an automated MSI analysis system,High resolution Fluorescent Microsatellite Analysis Assay system,which technologically obviate most of those problems.The system is of a high credibility and sensitiveness,it provided the possibility of observing the MSI status more preciously.We therefore recommend this application as a routine MSI analysis assay system.