MOLECULAR EXTENT OF LINKAGE DISEQUILIBRIUM

描述：(改编自申请者？S摘要)：本项目提出 系统地研究人类群体中的连锁不平衡。数据 要收集的单倍型由8个独立的200-500kb的单倍型组成 20个群体的基因座。这8个基因座是这20个基因座的子集 在项目1中调查，将包括着丝粒、端粒和臂中段 染色体区域，以调查系统的影响 连锁不平衡的染色体区域。20个种群，它们是 与项目1中分析的20个群体相同，将包括 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。最初，许多多态标记将被识别 并输入每个基因座的200kb区域。然后，其他标记将是 添加以允许在每个轨迹中横跨整个区域进行调整 向上(最大为500 kb)或向下，取决于大小 在首次调查中发现的连锁不平衡 轨迹。规定的目标是评估 每个基因座上的重组，以及共享与 独立的人口历史，在塑造联系的总体格局方面 160个群体-基因座组合的不平衡。

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.