外显子组测序是发现单基因病致病基因的捷径

摘要

新一代测序技术的产生和发展为疾病研究带来了新的机遇.作为一种高效、快速和高性价比的研究方法,外显子组测序技术已经开始应用于单基因疾病等遗传病的研究.该技术已经得到国际学术界的广泛认可,也将越来越多地应用于单基因疾病的研究中.这将对单基因病致病基因的发现产生巨大推动作用.作者对国内外近两年应用外显子测序技术检测疾病相关基因的一些研究进行文献综述.%The development of new generation sequencing technologies has brought new opportunities for the study of diseases.Exome sequencing has shown to be an effective,rapid,high performance technique that has already been used in research of inherited diseases such as monogenic disorders.It has already been approved by scientists in the field of monogenic disorder study,and will become widely used.This approach will accelerate discovery of the causative genes of Mendelian disorders.This article reviews some recent applications of exome sequencing in the study of gene-related diseases.