拷贝数目变异研究进展

人类基因组中的DNA 拷贝数目变异Copy Number Variation（CNVs）一直以来都认为分布频率较低，并与疾病的发生以及不同个体对于疾病的易感性相关。随着Hapmap研究计划的顺利进行，研究者逐渐发现CNVs广泛分布于人基因组中。黑猩猩和实验室近交系的小鼠基因组也存在CNVs的广泛分布。目前已有多项研究证明了CNVs是人类基因组变异的主要原因，本综述将从CNVs的定义及其在健康人群的分布研究以及与疾病的相关性研究，CNVs的形成机制和CNVs的进化等方面对最新的CNVs研究进展做较为全面概述。

Advances in the Research of Copy Number Variation

DNA copy number variation has been associated with variable susceptibility to complex diseases and genomic disorders,but its ubiquity in human genomes was not fully realized until recently with the progress of Hapmap.Many CNVs are observed in the corresponding regions in both chimpanzees and humans with high frequency.It seems likely that at least in humans,copy number variants account for a substantial amount of genetic variation.This review disusses the recent advances in the research of CNVs in normal individual and the relationship with gene disorder,potential mechanisms of CNVs formation and evolution.