拷贝数变异在畜禽中的研究进展

doi:10.16431/j.cnki.1671-7236.2021.07.027

摘要/Abstract

摘要： 拷贝数变异（copy number variation，CNV）具有多种形式的变异结构，在品种多样性、生物进化和疾病相关性等研究中起着重要作用，并具有片段长度大、覆盖范围广等特点。随着分子生物学的发展及DNA测序技术的日渐成熟，人们对遗传变异的研究不断向DNA分子水平深入，多态性标记在畜禽育种中已逐渐成为动物育种研究的趋势和主流。由于CNV对基因的调控和表达所造成的影响更为显著，因此，CNV在重要畜禽中的研究越来越多。目前，已检测出大量有关畜禽重要经济性状的基因序列变异，并有许多研究均表明CNV与动物的重要经济特征及疾病的发生有关。笔者主要通过参考国内外相关的研究报道，简述了CNV的相关研究背景、概念、突变机制，归纳总结了CNV对牛、羊、猪、鸡的经济性状、繁殖性状和疾病调控的影响，以期通过对这些重要畜禽的基因组学研究揭示其适应性遗传机理和表型性状差异的遗传基础，开发相应的分子遗传标记，为畜禽的标记辅助选育提供理论基础。

关键词: 拷贝数变异(CNV); 畜禽; 生产性状

Abstract: Copy number variation (CNV) has many forms of variation structure,which plays an important role in the study of variety diversity,biological evolution and disease correlation,and has the characteristics of large fragment length and wide coverage.With the development of molecular biology and the maturity of DNA sequencing technology,the study of genetic variation has been deepened to the DNA molecular level.Polymorphic markers have gradually become the trend and mainstream of animal breeding research in livestock and poultry breeding.As CNV has more significant effects on gene regulation and expression,there are more and more studies on CNV in important livestock and poultry.At present,a large number of gene sequence variations related to important economic traits of livestock and poultry have been detected,and many studies have shown that CNV is related to the important economic characteristics of animals and the occurrence of diseases.By referring to the relevant research reports at home and abroad,the author briefly introduced the related research background,concept and mutation mechanism of CNV,and summarizes the effects of CNV on economic traits,reproductive traits and disease regulation of cattle,sheep,pig and chickens.in order to reveal the genetic mechanism of adaptability and the genetic basis of phenotypic traits through the genomic research on these important livestock and poultry,and to develop corresponding molecular genetic markers.To provide a theoretical basis for marker-assisted breeding of livestock and poultry.

Key words: copy number variations(CNV); livestock and poultry; production traits

中图分类号:

S813

经珍珠, 秦盼盼, 陈冰洁, 侯丹, 魏成杰, 李通, 韩瑞丽, 刘小军, 田亚东, 康相涛, 李转见. 拷贝数变异在畜禽中的研究进展[J]. 中国畜牧兽医, 2021, 48(7): 2512-2522.

JING Zhenzhu, QIN Panpan, CHEN Bingjie, HOU Dan, WEI Chengjie, LI Tong, HAN Ruili, LIU Xiaojun, TIAN Yadong, KANG Xiangtao, LI Zhuanjian. Research Progress of Copy Number Variation in Livestock and Poultry[J]. China Animal Husbandry and Veterinary Medicine, 2021, 48(7): 2512-2522.

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