一百年来的连锁不平衡。
One Hundred Years of Linkage Disequilibrium.
机构信息
Evolution and Ecology Research Centre, University of New South Wales, Sydney, 2052, Australia
Institute of Evolutionary Biology, University of Edinburgh, EH9 3FL, United Kingdom.
出版信息
Genetics. 2018 Jul;209(3):629-636. doi: 10.1534/genetics.118.300642.
One hundred years ago, the first population genetic calculations were made for two loci. They indicated that populations should settle down to a state where the frequency of an allele at one locus is independent of the frequency of an allele at a second locus, even if these loci are linked. Fifty years later it was realized what is obvious in retrospect, that these calculations ignored the effect of chance segregation of linked loci, an effect now widely recognized following the association of closely linked markers (SNPs) with rare genetic diseases. Linkage disequilibrium is now accepted as the norm for closely linked loci, leading to powerful applications in the mapping of disease alleles and quantitative trait loci, in the detection of sites of selection in the human genome, in the application of genomic prediction of quantitative traits in animal and plant breeding, in the estimation of population size, and in the dating of population divergence.
一百年前，人们首次针对两个基因座进行了群体遗传计算，结果表明，即使两个基因座连锁，群体也应该稳定在一种状态，即一个基因座的等位基因频率与另一个基因座的等位基因频率无关。五十年后，人们意识到这些计算忽略了连锁基因座随机分离的影响，这种影响在紧密连锁标记（SNP）与罕见遗传疾病相关联之后，已得到广泛认可。连锁不平衡现在被认为是紧密连锁基因座的常态，这为疾病等位基因和数量性状基因座的定位、人类基因组中选择位点的检测、动物和植物育种中数量性状的基因组预测应用、群体大小的估计以及群体分化的年代测定提供了强大的应用。
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