外显子组测序在人类疾病中的应用

发布时间：2018-07-16 07:54

【摘要】：据估计,约85%的人类遗传变异集中在蛋白编码区,因此对全部的蛋白编码区(外显子组)进行重测序,可以快速、有效地鉴定人类疾病遗传变异。以往鉴定孟德尔遗传病的致病基因多采用连锁分析结合候选定位克隆的方法,不仅耗时长,而且成功率低。2009年,科学家第一次应用外显子组测序在4名弗里曼谢尔登综合征(常染色体显性遗传病)中发现了位于MYH3中的点突变,显示出外显子组测序在孟德尔遗传病致病基因鉴定中的强大功效。就复杂疾病而言,传统的关联研究,包括全基因组关联研究(GWAS),虽然鉴定了大量的常见变异,但对低频变异和罕见变异的检测能力十分有限;深度测序的发展为解决上述问题提供了良好的契机。文章就外显子组测序在人类疾病中的应用进行了综述。
[Abstract]:It is estimated that about 85% of the human genetic variation is concentrated in the protein coding region. Therefore, resequencing the entire protein coding region (exon group) can quickly and effectively identify the genetic variation of human disease-like diseases. In the past, linkage analysis combined with candidate location cloning was used to identify Mendelian disease genes, which not only took a long time, but also had a low success rate. Scientists used exon sequencing for the first time to find point mutations in MYH3 in four patients with Freeman Sheldon syndrome (autosomal dominant disease). It shows that exon sequencing is very useful in the identification of Mendelian disease genes. As far as complex diseases are concerned, traditional association studies, including Genome-wide Association study (Gwas), have identified a large number of common variations, but their ability to detect low frequency variations and rare variations is very limited. The development of deep sequencing provides a good opportunity to solve the above problems. This paper reviews the application of exon sequencing in human diseases.
【作者单位】：中国医学科学院基础医学研究所;
【基金】：国家自然科学基金项目(编号:31222031) 中央高校基本科研业务费专项资金项目(编号:2012S05) 协和青年科研基金项目(编号:2012J09)资助
【分类号】：R3416

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