随着高通量SNP芯片技术的快速发展和测序成本的大幅降低,SNP基因芯片和基因组重测序等技术被广泛地应用于畜禽基因组研究中。在基因组某一段区域内,当一定数量和一定密度的SNPs表现为纯合时,可以判定该区域存在连续性纯合片段(runs of homozygosity, ROH)。目前,连续性纯合片段已经逐渐成为分析畜禽群体近交程度、遗传结构等方面的重要指标之一。但是,ROH计算应用的评价标准还相对匮乏。本文系统介绍了连续性纯合片段的发展历史、原理、鉴定方法以及在畜禽群体结构解析、基因组功能分析和种畜禽品质检测等方面的应用情况,以期为畜禽遗传资源保种区和保种场在遗传多样性等动态监测方面提供参考。

With the rapid development of high-throughput SNP array and significant reduction of sequencing cost, the techniques of genome-resequencing and SNP chip arrays are widely applied in livestock genomic studies. Long runs of homozygosity (ROH) arose when identical haplotypes were inherited from each parent and thus a long tract of genotypes is homozygous. Nowadays, cumulative studies reported that ROH has progressively served as one of the important indexes to estimate the degree of inbreeding and genetic structure of livestock populations. However, the evaluating criteria of ROH in livestock is still inadequate. In this review, we introduce the history, theory and identification methods of ROH analysis. Meanwhile, we also systematically overview the applications and perspectives of ROH in population genetic structure analysis, genome functional assay, quality investigation and dynamic monitoring of livestock genetic resources.