Diversity in Human DNA Sequences

描述 古代人类的人口统计学研究使用变异在 微卫星或短串联重复（STR）基因座标记的谱系 单核苷酸多态性（SNP）。每个SNP谱系是随机的 随着人口的增长而增长或减少并分成亚系 细分家系内STR变异反映了这些人口统计学变化 并带有可以估计时间的古代事件的签名。的 研究分为三个领域。第一部分将侧重于 发散度和扩展时间基于方差、峰度等较高 在微卫星位点的重复得分的时刻。将研究动态模型 不假设微卫星变异的突变-漂移平衡， 将包括基因流动和各种类型的人口过程。第二 区域包括微卫星突变参数的估计，如 重复评分中突变变化的方差和其他统计矩， 突变率的基因座间变异、突变偏倚等，的 重要的是使用微卫星多态性来估计历史事件。 分析将基于突变的统计和动态模型 并将利用关于微型卫星的研究所提供的数据 突变率和人口数据。第三个领域扩展了家长计划 项目包括以前从西伯利亚收集的样本（Burjats， 图维尼亚人、雅库特人、埃文克人、楚科奇人、爱斯基摩人），以便进一步研究 来自东北亚的新大陆居民。的应用 从前两个领域到现有的和新获得的数据的估计器将 可以更精确地确定迁徙到北美的时间。它还将 在斯坦福大学的DNA数据库中增加全球人类的信息 人口。该提案将进一步加强生产科学 美国和俄罗斯遗传学家之间的合作， 存在了近十年，并产生了约30同行评审 出版物，同时也涉及其他科学团体从联合国 美国、瑞典、丹麦和澳大利亚。

DESCRIPTION Demography of ancient human populations is studied using variation at microsatellite, or short tandem repeat (STR) loci in lineages marked with single nucleotide polymorphisms (SNPs). Each SNP lineage is stochastically growing or declining in size and dividing into sublineages following population subdivision. Within-lineage STR variation reflects these demographic changes and carries signatures of the ancient events whose time can be estimated. The research falls into three areas. The first will focus on estimators of divergence and expansion time based on the variance, kurtosis and other higher moments of repeat scores at microsatellite loci. Dynamic models will be studied that do not assume mutation-drift equilibrium for microsatellite variation, and will include gene flow and various types of population processes. The second area includes estimation of microsatellite mutation parameters, such as the variance and other statistical moments of mutational changes in repeat score, between-locus variation in mutation rates, mutational bias, etc., that are important for estimating historical events using microsatellite polymorphisms. The analysis will be based on statistical and dynamic models of the mutation distribution and will use available data from studies on microsatellite mutation rate and population data. The third area extends the Parent Program Project to include previously collected samples from Siberia (Burjats, Tuvinians, Yakuts, Evenks, Chukchis, Eskimos) in order to study further the peopling of the New World from Northeast Asia. The application of the estimators from the first two areas to existing and newly obtained data will permit more precise dating of the migrations into North America. It will also augment information at the Stanford DNA database on human worldwide populations. The proposal will further strengthen the productive scientific cooperation between the collaborating U.S. and Russian geneticists that has existed for almost ten years and has produced about 30 peer-reviewed publications while also involving other scientific groups from the United States, Sweden, Denmark and Australia.