全外显子组测序在常染色体隐性遗传病致病基因克隆中的应用策略  

Strategies for exome sequence data analysis for discovering genes underlying autosomal recessive disorders

作　　者：詹自雄[1] 胡兆婷[1] 沈璐[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华医学遗传学杂志》2012年第5期558-561,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30971034,81171068,81100845）

摘　　要：全外显子组测序（whole-exome sequencing，WES）是近年发展起来的一种先应用靶向富集技术捕获基因组的外显子区域，再通过高通量测序获得编码区序列遗传信息的分析技术。该技术目前已被广泛应用于孟德尔单基因遗传病，特别是常染色体隐性遗传病的基因克隆。作者对近期全外显子组测序技术在常染色体隐性遗传病致病基因克隆中的应用策略进展进行了综述。Introduced in 2009, whole-exome sequencing （WES） is a technology in which target capture methods are used to enrich sequences of coding regions of genes from fragmented total genomic DNA, which is followed by high-throughput sequencing of the captured fragments. As reported, WES has been successfully applied for discovering genes underlying several Mendelian diseases, especially autosomal recessive types. In this review, authors have summarized the main computational strategies which have been applied to identify novel autosomal recessive diseases genes using whole-exome data.

关 键 词：外显子组测序 常染色体隐性遗传 致病基因 基因克隆 

分 类 号：R596[医药卫生—内科学]