基于拷贝数变异的遗传关联研究  

Copy number variation based genetic association studies

作　　者：周雪崖[1] 张学工[1,2] 

机构地区：[1]清华大学生物信息学教育部重点实验室,清华信息科学与技术国家实验室(筹)生物信息学研究部,清华大学自动化系,北京100084 [2]清华大学医学院,北京100084

出　　处：《科学通报》2011年第6期370-382,共13页Chinese Science Bulletin

基　　金：国家自然科学基金资助项目(30625012,61021063)

摘　　要：存在于自然群体中DNA片段的拷贝数变异(copy number variations,CNVs)是基因组结构性差异的常见形式.人们早已意识到它在人群中普遍存在,并设计出多种实验方法对其进行检测和量化.近年来,伴随着实验技术的进步,人群的CNV图谱被不断完善、细化;许多CNVs和疾病的相关性被陆续报道.对复杂疾病的CNV关联研究已成为当前医学遗传学研究的重要内容.本文将总结和关联研究有关的CNV遗传特性,分析CNV与疾病关联研究的进展与问题,并探讨实验设计和数据分析策略.Naturally occurring DNA copy number variations （CNVs） are a common form of genomic structural variations. It has long been appreciated that CNVs were ubiquitous in the human populations; and a variety of technologies have been developed to detect and quantify their existences. In parallel with the technological advancement, CNV maps for human populations have been constructed and refined, and many CNV-disease associations were reported. The CNV-based genetic association study has become an important research area of medical genetics. We will summarize the genetic features of CNVs relevant to association studies, analyze progresses and issues in the CNV-disease association studies, and discuss strategies for experimental design and data analysis.

关 键 词：拷贝数变异 复杂疾病 关联研究 实验设计 数据分析 

分 类 号：Q348[生物学—遗传学]