MOLECULAR EXTENT OF LINKAGE DISEQUILIBRIUM

说明：（改编自申请人？摘要：本项目拟 系统地研究人类群体中的连锁不平衡。数据 所收集的单倍型由跨越200-500 kb的8个独立的 20个群体的基因座。这八个基因座是20个基因座的子集 研究项目1，将包括着丝粒，端粒，和中臂 染色体区域，以研究系统的影响， 连锁不平衡的染色体区域。这20个种群， 与项目1中分析的20个群体相同，将包括一个 全球人类多样性的代表性样本，以尽量减少 特定群体历史对连锁的特殊影响 不平衡首先，将鉴定一些多态性标记 并在每个基因座的200 kb区域中分型。然后将添加其他标记 添加以允许在要调整的每个轨迹中跨越整个区域 向上（最大500 kb）或向下，取决于数量 连锁不平衡的初步调查发现，200 kb，从每个 基因座所述目标是评估 每个基因座之间的重组，以及共享与共享的相对影响。 独立的人口历史，在塑造整体格局的联系 在160个群体-位点组合中的不平衡。

DESCRIPTION: (Adapted from applicant?s abstract): This project proposes to systematically investigate linkage disequilibrium in human populations. Data to be collected consist of haplotypes spanning 200-500 kb at eight independent loci in 20 populations. The eight loci, which are a subset of the 20 loci investigated in Project 1, will include centromeric, telomeric, and mid-arm chromosomal regions, in order to investigate systematic influences of chromosomal regions on linkage disequilibrium. The 20 populations, which are identical to the 20 populations analyzed in Project 1, will comprise a representative sample of global human diversity, in order to minimize idiosyncratic influences of particular population histories on linkage disequilibrium. Initially, a number of polymorphic markers will be identified and typed in a 200 kb region of each locus. Additional markers will then be added to allow the total region to be spanned in each locus to be adjusted either upwards (to a maximum of 500 kb) or downwards, depending on the amount of linkage disequilibrium found in the initial survey of 200 kb from each locus. The stated goal is to evaluate the amount and distribution of recombination across each locus, and the relative influence of shared vs. independent population histories, in shaping the overall pattern of linkage disequilibrium across the 160 population-locus combinations.