拷贝数变异及其在畜禽中的研究进展

单核苷酸多态性一直以来都是很多分子生物学家研究的焦点。生物体基因组研究的核心内容是为了了解表型差异的分子遗传机制,但是要理解表型差异的分子基础就必须要对所有类型的变异有深刻的认识,而不仅仅是单核苷酸变异。拷贝数变异是指DNA 片段大小范围从kb到Mb的亚微观突变,由于很多拷贝数变异的片段足够大,包含了整个基因,因此,相对于单核苷酸变异它们更有可能影响生物体的健康。很多研究结果表明,特殊基因的拷贝数变异与表型差异有着显著的联系。作者阐述了拷贝数变异的概念,重点介绍了这种变异的形成机制和检测方法,并阐述了其在畜禽中的研究。

Copy Number Variation and its Research in Livestock and Poultry

Single nucleotide polymorphisms(SNPs) have been always the focus of most molecular biologists.However,the core of genome research in organism is to understand the molecular mechanisms of phenotypic differences so that a complete understanding of all the kinds of variations is necessary besides SNPs.Copy number variations(CNVs) are DNA segments ranging from kb to Mb.Many of CNVs are big enough to encompass whole genes so that they are more likely to affect organismal fitness compared to SNPs.There are now mu...