Biosciences Research Division, Department of Primary Industries Victoria, Bundoora 3083, Australia.
J Dairy Sci. 2010 Jul;93(7):3331-45. doi: 10.3168/jds.2009-2893.
Genome-wide association studies (GWAS) were used to discover genomic regions explaining variation in dairy production and fertility traits. Associations were detected with either single nucleotide polymorphism (SNP) markers or haplotypes of SNP alleles. An across-breed validation strategy was used to narrow the genomic interval containing causative mutations. There were 39,048 SNP tested in a discovery population of 780 Holstein sires and validated in 386 Holsteins and 364 Jersey sires. Previously identified mutations affecting milk production traits were confirmed. In addition, several novel regions were identified, including a putative quantitative trait loci for fertility on chromosome 18 that was detected only using haplotypes greater than 3 SNP long. It was found that the precision of quantitative trait loci mapping increased with haplotype length as did the number of validated haplotypes discovered, especially across breed. Promising candidate genes have been identified in several of the validated regions.
全基因组关联研究（GWAS）被用于发现解释奶牛生产和繁殖性状变异的基因组区域。使用单核苷酸多态性（SNP）标记或 SNP 等位基因的单倍型检测关联。使用跨品种验证策略来缩小包含致病突变的基因组间隔。在 780 头荷斯坦公牛的发现群体中测试了 39048 个 SNP，并在 386 头荷斯坦牛和 364 头泽西牛中进行了验证。先前确定的影响产奶量性状的突变得到了证实。此外，还鉴定了几个新的区域，包括在第 18 号染色体上的一个与繁殖力有关的数量性状位点，该位点仅使用超过 3 个 SNP 的单倍型检测到。研究发现，随着单倍型长度的增加，数量性状位点的定位精度也随之增加，跨品种验证的单倍型数量也随之增加。在几个已验证的区域中已经确定了有前途的候选基因。
