基因拷贝数变异与智力障碍病因学研究进展  

Copy number variations and etiology of mental retardation

作　　者：王芳[1,2] 杨尧[1] 何玺玉[1] 

机构地区：[1]北京军区总医院附属八一儿童医院临床遗传学中心,100700 [2]重庆第三军医大学,400038

出　　处：《国际遗传学杂志》2010年第3期175-178,共4页International Journal of Genetics

基　　金：基金项目：全军“十一五”课题（06MB074）

摘　　要：基因拷贝数变异（copy number variations，CNVs）是指DNA片段大小从1kb至Mb的亚微观结构变异，已成为探讨与疾病相关遗传变异的研究热点，特别是神经认知系统的遗传病，如精神分裂症、智力障碍等综合征。本文综述了基因拷贝数变异与智力障碍的关联父系和基因拷贝数变异检测技术进展存智力障碍诊断中的应用，这对揭示智力障碍发病机制有着重要意义。Copy Number Variation （CNV） is now considered as microstructural variation in DNA segment length within the genome. CNV has been believed to be associated with idiopathic learning disability diseases, especially schizophrenia and mental retardation. In this review, we summarize recent progresses in determining the association between copy number variations and mental retardation, and the application of CNVs detection techniques in the elinical diagnosis of mental retardation, which would contribute to a better understanding of etiology of mental retardation.

关 键 词：拷贝数变异 智力障碍 遗传病 

分 类 号：R74[医药卫生—神经病学与精神病学]