外显子测序在不明原因智力障碍病因学研究的应用进展

摘要

Intellectual disability is a genetically heterogeneous disease,however,more than half of the genetic etiologies still remain unexplained.Since whole exome sequencing is applied for intellectual disability,a mature work flow has been established,which firstly discovered some important causative genes.This paper reviews the application,advantages and disadvantages of whole exome sequencing for sporadic,unexplained intellectual disability.%智力障碍是一种具有显著的遗传异质性疾病,目前仍有超过半数的患者病因未明.自全外显子测序技术应用于智力障碍疾病以来,逐渐形成了一套较成熟的工作流程图,并且首次发现了部分重要的致病基因.该文主要针对全外显子测序在散发的、不明原因的智力障碍患者中的应用及其优缺点进行综述.