基因拷贝数变异(CNV)的作用机理及其在动物遗传育种中的研究进展

Mechanism of gene copy number variation (CNV) and its research progress in animal genetics and breeding

中文关键词: CNV概述  突变机理  检测  疾病  研究进展  未来

英文关键词: CNV overview  mutation mechanism  detection disease  research progress  future

中文摘要:

      基因拷贝数变异(copy number variation,CNV)是指在大小一般是从1 kb到3 Mb的基因组中增加或减少大片段的拷贝数和亚微DNA片段的重复或缺失的变化。基因拷贝数变异(CNV)是基因组结构变异(structure variant,SV)的重要组成部分,CNV所覆盖的核苷酸位点突变率明显高于单核苷酸多态性(single nucleotide polymorphism,SNP)。CNV是人类疾病的重要致病因素之一。本文从CNV的概述、突变机理、检测方法和研究进展等方面进行阐述,并对未来CNV的发展进行展望,以期获得具有更高生产性和繁殖性能的家畜,并对人类疾病的研究有帮助。

英文摘要:

      Gene copy number variation (CNV) refers to a change in the copy number of a large fragment and the repetition or deletion of a submicro DNA fragment in a genome that is generally from 1 kb to 3 Mb in size. Gene copy number variation (CNV) is an important component of genomic structural variation (structure variant, SV), and the nucleotide mutation rate covered by CNV is significantly higher than that of single nucleotide polymorphism (single nucleotide polymorphism, SNP). CNV is one of the important pathogenic factors of human disease. In this paper, the overview of CNV, mutation mechanism, detection methods and research progress are expounded, and the future development of CNV is prospected in order to obtain livestock with higher productivity and reproductive performance, and it is helpful for the study of human diseases.