Pilot HGDP: Developing Genetic Markers Informative in all Populations

这个试点项目的目标是：1)展示一种简单、可扩展和成本效益高的策略在识别一组在几个群体中高度可变的遗传标记方面的效用，以及2)为这一组标记开发一种简单的遗传分析。为了实现这些目标，将通过自动DNA测序来估计美国三个主要亚群(高加索人、西班牙人和非裔美国人)中160个常见遗传标记的等位基因频率。一组平均分布在人类基因组中的40个标记将被选择用于高通量遗传分析开发，这些标记在所有三个群体中都有信息。这种方法可以很容易地在开发高密度人类基因组遗传图谱的同时进行扩展。有了大量的信息丰富的遗传标记，它们中的适当子集可以被定制用于研究种群历史、进化机制、抗病和易感性，以及全面人类基因组多样性计划中提出的许多其他问题。这些问题的答案不仅将提供人类学和人口生物学方面的见解，还将促进全球团结和健康。

The goals of this pilot project are to: 1) demonstrate the utility of a simple, expandable, and cost-effective strategy in identifying a set of genetic markers that are highly variable in several populations, and 2) develop a simple genetic assay for such a set of markers. To achieve these goals, the allele frequencies of one hundred and sixty common genetic markers in the three major subpopulations in the United States (Caucasian, Hispanic, and African American) will be estimated by automated DNA sequencing. A set of 40 markers that are evenly distributed across the human genome and that are informative in all three populations will be selected for high-throughput genetic assay development. This approach can be expanded easily in parallel with the development of a high-density genetic map of the human genome. With a large number of informative genetic markers available, an appropriate subset of them can be tailored for use in studying population history, mechanisms of evolution, disease resistance and susceptibility, and many other questions being asked in the full-scale Human Genome Diversity Project. Answers to these questions will not only provide insights in anthropology and population biology, but also promote global unity and health.