Departamento de Zootecnia, Universidade Federal de Viçosa, Av. P.H. Holfs, 36570-000, Viçosa, MG, Brazil.
J Anim Sci. 2013 Aug;91(8):3493-501. doi: 10.2527/jas.2012-6052. Epub 2013 Jun 4.
Linkage disequilibrium (LD) across the genome is critical information for association studies and genomic selection because it determines the number of SNP that should be used for a successful association analysis and genomic selection. Linkage disequilibrium also influences the accuracy of genomic breeding values. Some studies have demonstrated that SNP in strong LD are organized into discrete blocks of haplotypes, which are separated by possibly hot spots of recombination. To reduce the number of markers needed to be genotyped for association mapping, a set of SNP can be selected that labels all haplotype blocks. We estimated the LD, calculated the average haplotype block size for 6 pig lines, and compared the block size between lines. Six commercial pig lines were genotyped using the Illumina PorcineSNP60 (number of markers M = 62,163) Genotyping BeadChip (Illumina Inc.); on average, a panel of 37,623 SNP with an average minor allelic frequency (MAF) of 0.283 was included in the analysis. The LD declined as a function of distance. All pig lines had an average r(2) above 0.3 for markers 100 to 150 apart. The estimated average block size was 394.885 kb, and blocks between 100 and 400 kb were most prominent (49.96%) in all lines. These results showed that the extent of LD in pigs is much larger than in the cattle population, in accordance with the genetic map length of pigs, which is much shorter than cattle. The evaluated lines have 2,640 to 3,037 blocks, covering 45% of the pig genome, on average. Differences in haplotype block size between lines were observed for some chromosomes (i.e., SSC 3, 5, 7, 13, 14, and 18), which provide a direction for future studies of haplotype block conservation or divergence across lines.
基因组中的连锁不平衡(LD)是关联研究和基因组选择的关键信息,因为它决定了成功进行关联分析和基因组选择所需的 SNP 数量。LD 还会影响基因组育种值的准确性。一些研究表明,强 LD 中的 SNP 被组织成离散的单倍型块,这些块由可能的重组热点隔开。为了减少关联作图所需的标记数量,选择一组 SNP 可以标记所有单倍型块。我们估计了 LD,计算了 6 个猪品系的平均单倍型块大小,并比较了品系之间的块大小。使用 Illumina PorcineSNP60(标记数 M = 62,163)基因分型珠芯片对 6 个商业猪品系进行基因分型(Illumina Inc.);平均而言,分析中包含了一组 37,623 个 SNP,平均次要等位基因频率(MAF)为 0.283。LD 随距离的增加而降低。所有猪线在相隔 100-150 个标记的位置上的平均 r(2)都高于 0.3。估计的平均块大小为 394.885 kb,100-400 kb 之间的块在所有品系中最为突出(49.96%)。这些结果表明,猪的 LD 程度远大于牛群,与猪的遗传图谱长度较短相一致。评估的品系平均有 2640-3037 个块,覆盖猪基因组的 45%。在一些染色体上观察到了品系之间单倍型块大小的差异(即 SSC 3、5、7、13、14 和 18),这为未来研究品系之间的单倍型块保守或分化提供了方向。