Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843-4458, USA.
Anim Genet. 2013 Jun;44(3):267-75. doi: 10.1111/age.12003. Epub 2012 Oct 11.
Genes within the major histocompatibility complex (MHC) encode proteins involved in innate and adaptive immune responses. Genetic variation in this region can influence the immune response of an individual animal to challenges from a variety of pathogens; however, a complete documentation of genetic variation in the MHC is lacking for most domestic animals, including horses. To provide additional genetic markers for study of the horse MHC, or ELA (equine lymphocyte antigen), we identified 37 polymorphic microsatellite repeats in ELA and used these variations separately and together with published SNPs to investigate linkage disequilibrium (LD) and haplotype structure in a sample of Thoroughbred horses. ELA SNPs alone detected little LD, but microsatellites, either separately or combined with SNPs, revealed substantially more LD. A subset of markers in very high LD across the breadth of ELA may be predictive of structural polymorphisms or linked epistases that are important drivers of haplotype structure in Thoroughbreds.
主要组织相容性复合体 (MHC) 内的基因编码参与先天和适应性免疫反应的蛋白质。该区域的遗传变异可以影响个体动物对来自各种病原体的挑战的免疫反应；然而，大多数家畜（包括马）的 MHC 遗传变异尚未完全记录。为了提供马 MHC 或 ELA（马淋巴细胞抗原）研究的其他遗传标记，我们在 ELA 中鉴定了 37 个多态性微卫星重复序列，并分别使用这些变异以及已发表的 SNPs 来调查一组纯种马中的连锁不平衡 (LD) 和单倍型结构。ELA SNPs 单独检测到的 LD 很少，但微卫星，无论是单独使用还是与 SNPs 一起使用，都揭示了更多的 LD。ELA 广泛存在的一组高度 LD 标记可能预测结构多态性或连锁上位性，这些是影响纯种马单倍型结构的重要驱动因素。
