拷贝数变异——人类基因组变异研究的新热点

被引：4

作者：

徐菁

惠汝太

机构：

[1] 北京协和医学院中国医学科学院阜外心血管病医院中德实验室

来源：

中国分子心脏病学杂志 | 2009年 / 9卷 / 06期

关键词：

拷贝数变异; 结构变异; 单核苷酸多态性;

D O I：

10.16563/j.cnki.1671-6272.2009.06.002

中图分类号：

R394 [医学遗传学];

学科分类号：

100233 [医学遗传学];

摘要：

拷贝数变异(copy number variation,CNV)是当前国际研究的热点,它是一种大小介于1kb到3Mb之间的DNA片段的缺失、重复、倒位和易位,在人群和基因组中都分布广泛,被认为是个体间基因差异的重要来源。本文从CNV在人类基因组中的存在、形成机制、对疾病和表型的影响、检测和分析以及前景等方面综述了CNV的研究进展。

引用

收藏

页码：370 / 372

页数：3

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