人类基因组中的长程连锁不平衡。

Department of Integrative Biology, University of Texas, Austin, Texas, United States of America.

PLoS One. 2013 Dec 12;8(12):e80754. doi: 10.1371/journal.pone.0080754. eCollection 2013.

Long-range linkage disequilibria (LRLD) between sites that are widely separated on chromosomes may suggest that population admixture, epistatic selection, or other evolutionary forces are at work. We quantified patterns of LRLD on a chromosome-wide level in the YRI population of the HapMap dataset of single nucleotide polymorphisms (SNPs). We calculated the disequilibrium between all pairs of SNPs on each chromosome (a total of >2×10(11) values) and evaluated significance of overall disequilibrium using randomization. The results show an excess of associations between pairs of distant sites (separated by >0.25 cM) on all of the 22 autosomes. We discuss possible explanations for this observation.

长程连锁不平衡（LRLD）在染色体上广泛分离的位点之间可能表明人群混合、上位性选择或其他进化力量在起作用。我们在 HapMap 数据集的 YRI 人群中的单核苷酸多态性（SNP）中量化了染色体水平上的 LRLD 模式。我们计算了每条染色体上所有 SNP 对之间的不平衡（总共>2×10(11)个值），并使用随机化评估整体不平衡的显著性。结果表明，所有 22 条常染色体上的远距离（分离>0.25 cM）位点对之间存在过多的关联。我们讨论了对这种观察结果的可能解释。