拷贝数变异及其检测技术在自身免疫性疾病中的应用进展  

The progress of copy number variation and its measurement methods in autoimmune diseases

作　　者：吴子燕[1] 李永哲[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院风湿免疫科风湿免疫病学教育部重点实验室,100032

出　　处：《中华检验医学杂志》2013年第11期987-991,共5页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金资助项目（81072486,81172857）

摘　　要：拷贝数变异是基因组中广泛存在的一种结构变异,为个体间基因差异的重要来源之一.近年来,随着基因芯片及基因测序技术的成功研发,拷贝数变异的检测技术也日益标准化、自动化,也使得拷贝数变异在自身免疫性疾病等复杂疾病中的作用越来越受到学界的关注和重视.拷贝数变异的检测技术可以分为定点分析技术和基于全基因组水平的分析平台.目前拷贝数变异在自身免疫性疾病中的研究多集中在系统性红斑狼疮和类风湿关节炎,受限于检测技术和检测成本,研究尚处于起步阶段.Copy number variation （CNV） is one kind of structural variations,which exists extensively in human genome.In addition,it is the crucial source of inter-individual gene differences.Recently,with the successful development of gene array and gene sequencing,molecular methods for CNV testing are more and more standardizing and automating.Therefore,ongoing attentions have been attached to the effects and mechanisms of CNV in complicated diseases like autoimmune diseases.Molecular methods for CNV testing can be divided into two categories：target screening and the whole genome scanning platforms.Currently,the studies about CNV and autoimmune diseases mainly focused on systemic lupus erythematosus and rheumatoid arthritis.Considering the limitations of measurement methods and testing costs,it is still in the infant.

关 键 词：自身免疫疾病 DNA拷贝数变异 基因组 

分 类 号：R593.2[医药卫生—内科学]