Chakraborty R, Weiss K M
Center for Demographic and Population Genetics, University of Texas Graduate School of Biomedical Sciences, Houston 77225.
Proc Natl Acad Sci U S A. 1988 Dec;85(23):9119-23. doi: 10.1073/pnas.85.23.9119.
Admixture between genetically different populations may produce gametic association between gene loci as a function of the genetic difference between parental populations and the admixture rate. This association decays as a function of time since admixture and the recombination rate between the loci. Admixture between genetically long-separated human populations has been frequent in the centuries since the age of exploration and colonization, resulting in numerous hybrid descendant populations today, as in the Americas. This represents a natural experiment for genetic epidemiology and anthropology, in which to use polymorphic marker loci (e.g., restriction fragment length polymorphisms) and disequilibrium to infer a genetic basis for traits of interest. In this paper we show that substantial disequilibrium remains today under widely applicable situations, which can be detected without requiring inordinately close linkage between trait and marker loci. Very disparate parental allele frequencies produce large disequilibrium, but the sample size needed to detect such levels of disequilibrium can be large due to the skewed haplotype frequency distribution in the admixed population. Such situations, however, provide power to differentiate between disequilibrium due just to population mixing from that due to physical linkage of loci--i.e., to help map the genetic locus of the trait. A gradient of admixture levels between the same parental populations may be used to test genetic models by relating admixture to disequilibrium levels.
基因不同的群体之间的混合可能会根据亲本群体之间的遗传差异和混合率在基因座之间产生配子关联。这种关联会随着混合后的时间以及基因座之间的重组率而衰减。自探索和殖民时代以来的几个世纪里,长期分离的人类群体之间的混合一直很频繁,如今产生了许多杂交后代群体,比如在美洲。这代表了一个遗传流行病学和人类学的自然实验,其中可利用多态性标记基因座(例如,限制性片段长度多态性)和不平衡来推断感兴趣性状的遗传基础。在本文中,我们表明在广泛适用的情况下,如今仍存在大量不平衡现象,无需性状和标记基因座之间有极其紧密的连锁关系就能检测到。非常不同的亲本等位基因频率会产生很大的不平衡,但由于混合群体中单体型频率分布的偏差,检测这种不平衡水平所需的样本量可能会很大。然而,这种情况有助于区分仅由群体混合导致的不平衡和由基因座物理连锁导致的不平衡——也就是说,有助于绘制性状的遗传基因座。同一亲本群体之间的混合水平梯度可通过将混合与不平衡水平相关联来检验遗传模型。