Pilot HGDP: Efficient Recovery of Useful Markers: Application for use in the Human Genome Diversity Project

人类丰富的遗传变异广泛分布在整个基因组中。重建人类种群分化的计划最好是利用那些区分种群的遗传标记。这项研究的目的是评估人类群体样本中的大量微卫星标记，以用于人类基因组多样性计划(HGDP)。微卫星座位是重复DNA序列的区域。它们被用于许多目的，包括定位人类疾病基因。这项研究将产生三个与推进HGDP目标相关的结果：对五个研究群体中数百个遗传标记的变异(杂合度和多态)的描述，每个标记研究群体差异的相对信息量，以及每个标记在不同实验室环境中应用的方法学特征。这些海量的基因数据将通过新的方法产生，这些方法包括自动分型技术和使用混合DNA样本的新策略。

Abundant genetic variation in humans is widely distributed across the genome. The project of reconstructing human population divergence is best served by those genetic markers differentiating populations. The purpose of this study is to evaluate a large number of microsatellite markers in a sample of human populations for use in a Human Genome Diversity Project (HGDP). Microsatellite loci are regions of repeating DNA sequence. They are utilized for many purposes, including the localization of human disease genes. This study will produce three results pertinent to advancing HGDP goals: a description of the variation (heterozygosity and polymorphism) of several hundred genetic markers among five study populations, the relative informativeness of each marker for studying population divergence, and finally a methodological characterization of each marker for application in diverse laboratory settings. This enormous amount of genetic data will be generated with new methods involving automated typing technology and a novel strategy using pooled DNA samples.