【摘要】 微卫星是广泛分布在真核生物基因组中的短串联重复序列.微卫星不稳定(Microsatellite Instability,MSI)是指由DNA错配修复系统故障引起的微卫星区域重复序列插入或缺失的现象.微卫星不稳定的检测对于肿瘤的早期诊断以及预后判断等具有重要的意义.临床上采用MSI-PCR以及MMR-IHC的实验方法检测MSI,随着下一代测序技术的发展,基于高通量测序数据的MSI检测方法及软件逐渐涌现.本文将从生物学实验方法和计算方法两个角度对当前的MSI检测方法进行介绍并讨论分析这些方法的优势及局限.更多还原

【Abstract】 Microsatellites are short repetitive sequences widespread in eukaryotic genomes. Microsatellite instability, the gain or loss of repeat units from repetitive DNA tracts caused by MisMatch Repair Deficiency(MMRD), is significant for tumor early diagnosis and prognosis. In current clinical practice, microsatellite instability detection is performed by experimental methods like MSI-PCR and MMR-IHC. With the development of next-generation sequencing technology, a number of MSI detection softwares utilizing high-throughput sequencing data have been developed. In this paper, we provide an overview on existing MSI detection methods, including experimental methods and computational methods, as well as their strengths and limits.更多还原