拷贝数目变异: 基因组遗传变异的新诠释

doi:10.3724/SP.J.1003.2008.08142

摘要/Abstract

摘要：

拷贝数目变异(copy-number variant, CNV)也称拷贝数目多态(copy-number polymorphism, CNP), 是一种大小介于1 kb至3 Mb的DNA片段的变异, 在人类基因组中广泛分布, 其覆盖的核苷酸总数大大超过单核苷酸多态性(single nucleotide polymorphisms, SNPs)的总数, 极大地丰富了基因组遗传变异的多样性。CNV对于物种特异的基因组构成、物种的演化和系统发育以及基因组某些特定区域基因的表达和调控可能具有非常重要的生物学意义。本文从CNV的多态性、CNV的检测方法、CNV的多态性与表型的关联分析以及CNV的进化四个方面综述了CNV的研究成果, 并就CNV在动物基因组中的研究进行了展望。

关键词: 拷贝数目变异, 多态性, 关联分析, 进化, 展望

Abstract

A CNV (copy-number variant), also termed CNP (copy-number polymorphism), is a segment of DNA ranging from 1 kb to 3 Mb that is present in a variable number of copies compared to a reference genome. CNVs are widely distributed across the human genome, encompass more nucleotide content per genome than total SNPs (single nucleotide polymorphisms), and increase genetic diversity dramatically. CNVs may be important for genome organization within species, molecular evolution and phylogenesis, as well as gene expression and regulation in a specific region of a genome. From four aspects including CNV polymorphism, CNV test methods, association analyses between CNV polymorphism and complex traits, and CNV evolution, we provide a comprehensive review on the achievement of CNV studies, and offer perspective on CNV studies on animal genomes.

Key words: copy-number variant, polymorphism, association study, evolution, perspective

饶友生, 张细权 (2008) 拷贝数目变异: 基因组遗传变异的新诠释. 生物多样性, 16, 399-406. DOI: 10.3724/SP.J.1003.2008.08142.

Yousheng Rao, Xiquan Zhang (2008) Copy-number variant: new annotation for genetic variation across genomes. Biodiversity Science, 16, 399-406. DOI: 10.3724/SP.J.1003.2008.08142.

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链接本文: https://www.biodiversity-science.net/CN/10.3724/SP.J.1003.2008.08142

https://www.biodiversity-science.net/CN/Y2008/V16/I4/399

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