拷贝数变异及其研究进展

Current Progress in Copy Number Variation Study

拷贝数变异作为遗传变异的一种新来源在表型多样性和进化中起着重要作用,引起了研究者广泛的兴趣。拷贝数变异(copy number variation,CNV)是指大小从kb到Mb范围内亚微观DNA片段的变异。CNV在人类正常个体和许多模式动物中已经做了很多的研究工作,并通过生物信息学和杂交的方法确定了CNV的区域。进一步研究发现拷贝数变异与疾病的致病机理有着密切的联系。本文从概念、检测方法和研究进展方面对CNV进行了较为全面的介绍与阐述,分析了目前CNV研究存在的一些问题,并对它在疾病和其他方面的前景做出一些展望。

Copy number variation（CNV） has recently gained considerable interest as a source of genetic variation likely to playing an important role in researching phenotypic diversity and evolution.CNV is a DNA segment ranging from kb to Mb.Much effort has been made in the identification and mapping of regions varying in copy numbers among normal individuals in human and a number of model organisms,using bioinformatics or hybridization-based methods.The further researches have found that copy number variation is associated with mechanism of disease.In this paper,the outline,detection methods and research progress of the CNV are described and introduced,some existing problems in CNV research are presented,and the foregrounds of the research in human and animal diseases are prospected.