全基因组关联分析的扩展方法及其在畜禽中应用的研究进展

doi:10.16431/j.cnki.1671-7236.2024.04.006

摘要/Abstract

摘要： 全基因组关联分析(GWAS)是一种通过对大规模样本集合进行基因型和表型数据的比较分析,寻找与特定性状相关的遗传变异的方法。随着高通量测序技术、生物信息学技术和统计学方法的不断发展,一些频率更小的遗传变异或小分子物质能够被更加精准和经济的方式检测。基于技术进步衍生出GWAS的扩展方法,为畜禽精准育种和遗传改良提供了新的思路,其中包括基于拷贝数变异(copy number variation,CNV)、结构变异(structural variation,SV)和串联重复序列(tandem repeats,TR)的GWAS和基于单倍型、基因表达和代谢组的GWAS。研究人员期望利用不同分子标记以提供更全面和详细的遗传变异信息来增加GWAS的解释性和准确性,或通过结合其他类型的数据来进一步解释和深化GWAS的结果,从而深入研究遗传变异与性状之间联系并确定影响复杂性状的关键基因。作者介绍了基于不同分子标记的GWAS在畜禽研究当中的应用并对其结果进行讨论,分析了不同方法的优势与可行性,为进一步推动GWAS在畜禽研究中的应用,精准育种和遗传改良提供更多的思路和支持。

关键词: 全基因组关联分析(GWAS); 畜禽; 分子标记

Abstract: Genome-wide association studies (GWAS) is a method of comparing genotype and phenotype data on a large sample set to identify genetic variations associated with specific traits.With the continuous development of high-throughput sequencing technology,bioinformatics technology,and statistical methods,some genetic variations or small molecular substances with lower frequencies can be detected more accurately and economically.The extension method of GWAS derived from technological progress provides new ideas for precision breeding and genetic improvement of livestock and poultry,including GWAS based on copy number variation (CNV),structural variation (SV),and tandem repeats (TR),and GWAS based on haplotypes,gene expression,and metabolomics.Researchers hope to use different molecular markers to provide more comprehensive and detailed genetic variation information to enhance the interpretability and accuracy of GWAS,or further explain and deepen the results of GWAS by combining other types of data,in order to deeply study the relationship between genetic variation and traits and identify key genes that affect complex traits.The author introduces the application of GWAS based on different molecular markers in livestock and poultry research and discusses its results.The advantages and feasibility of different methods are analyzed,providing more ideas and support for further promoting the application of GWAS in livestock and poultry research,precision breeding,and genetic improvement.

Key words: genome-wide association studies (GWAS); livestock and poultry; molecular markers

中图分类号:

S813.3

谢鑫峰, 王子轶, 钟梓奇, 潘德优, 倪世恒, 肖倩. 全基因组关联分析的扩展方法及其在畜禽中应用的研究进展[J]. 中国畜牧兽医, 2024, 51(4): 1382-1389.

XIE Xinfeng, WANG Ziyi, ZHONG Ziqi, PAN Deyou, NI Shiheng, XIAO Qian. Advances in Extended Methods of Genome-Wide Association Studies and Their Applications in Livestock and Poultry[J]. China Animal Husbandry and Veterinary Medicine, 2024, 51(4): 1382-1389.

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