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

作　　者：田全召 陈炳旭 赵杨杨 汪聪勇 王红利[3] 鲁沛佳 张子敬[4] 周森森 杨国杰 王二耀[4] 雷初朝[2] 陈宏[2] 黄永震[2] TIAN Quan-zhao;CHEN Bing-xu;ZHAO Yang-yang;WANG Cong-yong;WANG Hong-li;LU Pei-jia;Zhang Zi-jing;ZHOU Sen-sen;YANG Guo-jie;Wang Er-yao;LEI Chu-zhao;CHEN Hong;HUANG Yong-zhen(Dingyuan Seedstock Bulls Breeding Ltd.Company,Henan Zhengzhou 450000;College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100;Jiaxian Animal Husbandry Bureau, Jiaxian Henan 467100;Institute of Animal Science and Veterinary Medicine/Henan Key Laboratory of lirestock and poultky breedingand nutrition Rogalation, Henan Academy of Agricultural Sciences, Zhengzhou Henan 450002)

机构地区：[1]河南省鼎元种牛育种有限公司,河南郑州450000 [2]西北农林科技大学动物科技学院,陕西杨凌712100 [3]郏县畜牧局,河南郏县467100 [4]河南省农业科学院畜牧兽医研究所/河南省畜禽繁育与营养调控重点实验室,河南郑州450002

出　　处：《中国牛业科学》2021年第5期52-57,共6页China Cattle Science

基　　金：河南省省级现代农业产业园(豫农计划2019-38);财政部与农业农村部-国家现代农业产业技术体系(CARS-37);河南省肉牛产业技术体系(S2013-08);河南省农业科学院科技创新创意项目(2020CX09);河南省农业科学院优秀青年科技基金(2020YQ36)资助完成。

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。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.

关 键 词：CNV概述 突变机理 检测 疾病 研究进展 未来 

分 类 号：S823[农业科学—畜牧学]