Copy-number variation: a new pattern of structural diversity in genome

WU Zhi-Jun, JIN Wei

doi:10.3724/SP.J.1005.2009.00339

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Hereditas(Beijing) >

2009 , Vol. 31 >Issue 4: 339 - 347

DOI: https://doi.org/10.3724/SP.J.1005.2009.00339

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Copy-number variation: a new pattern of structural diversity in genome

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Department of Cardiology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China

Received date: 2008-08-12

Revised date: 2008-08-27

Online published: 2009-04-10

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Abstract

Copy number variation (CNV) is increasingly recognized as a source of inter-individual differences in genome sequence and has been proposed as a driving force for genome evolution and phenotypic variation. Many CNVs resulted in different levels of gene expression, which may account for a significant proportion of normal phenotypic variation and hu-man diseases. This review unveiled the research process and study strategy of CNVs. Subsequently, the potential mecha-nisms of CNV formation and its clinical implications were discussed. In addition, the first-generation copy number variation map of the human genome was introduced, which demonstrated that DNA copy number variation was associated with spe-cific chromosomal rearrangements and genomic disorders.

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WU Zhi-Jun, JIN Wei . Copy-number variation: a new pattern of structural diversity in genome[J]. Hereditas(Beijing), 2009 , 31(4) : 339 -347 . DOI: 10.3724/SP.J.1005.2009.00339

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