PATTERNS OF GENETIC VARIATION

由连锁遗传标记产生的单倍型，特别是具有不同突变率的标记，提供了关于人类历史细节的潜在丰富信息来源。这个子项目的第一个主要目标是开发25到50个新的单倍型系统，每个系统由一个短串联重复序列（STR）或微卫星组成，多态性与一个或多个单核苷酸多态性（SNPs）相关联。第二个主要目标是确定这些系统的单倍型，这些单倍型来自地理和语言不同的人群。从这5万到10万个单倍型（每个系统每个个体两个）中，我们将总结遗传多样性、群体异质性和连锁不平衡方面的变异模式。然后，我们将推断人口规模变化（瓶颈、扩张、收缩）、人口混合和人口之间的隔离在人类进化史上发挥作用的程度。通过开发新的单倍型系统和推断人类历史的更多细节，该项目将为医学和人类学的研究人员提供宝贵的资源和信息。

Haplotypes generated for linked genetic markers, particularly markers with differing mutation rates, provide a potentially rich source of information regarding the details of human history. The first major goal of this Subproject is to develop between 25 and 50 new haplotyping systems, each consisting of a single short tandem repeat (STR), or microsatellite, polymorphism linked to one or more single nucleotide polymorphisms (SNPs). The second major goal is to determine haplotypes for these systems for approximately 1000 individuals from a geographically and linguistically diverse set of human populations. From these 50,000-100,000 haplotypes (two per individual per system) we will summarize patterns of variation in terms of genetic diversity, population heterogeneity, and linkage disequilibrium. We will then infer the extent to which population size changes (bottlenecks, expansions, contractions), population admixture, and isolation among populations have played roles in human evolutionary history. Through the development of new haplotyping systems and the inference of additional details of human history, this project will provide valuable resources and information to researchers in both medicine and anthropology.