Y Chromosome Population Genetics

本项目的目标是估计Y染色体微卫星位点的突变率、人类Y染色体的遗传学和人类群体分化日期。主要来自5个亚洲人和11个美洲原住民人口样本的大约500个个体正在9个微卫星位点和5个具有已知祖先状态的非重复位点进行基因分型，所有这些位点都位于人类Y染色体的非重组、非假常染色体区域。将根据收集的基因型构建单倍型，并计算包括杂合性和等位基因重复单位方差统计在内的群体遗传参数，以比较群体差异和单倍型/群体关联。使用距离（群体方差）和简约性（单倍型间距离）方法的系统发生分析将构建进化相关的群体和单倍型网络。将计算连锁不平衡统计量，以使用改编自常染色体连锁不平衡作图方法的群体建模方法估计微卫星突变率。这些分析将有助于了解祖先的亚洲人口到亚洲和美洲的扩散和迁移，并将通过人口遗传，系统发育和连锁不平衡分析相结合，描述后代人口之间的关系。

The estimation of the mutation rates of Y chromosome microsatellite loci, human Y chromosome phylogeny and human population divergence dates are the goals of this project. Approximately 500 individuals, drawn primarily from 5 Asian and 11 Native American population samples, are being genotyped at 9 microsatellite loci and 5 non-repetitive loci with known ancestral state, all located on the non-recombining, non-pseudoautosomal region of the human Y chromosome. Haplotypes will be constructed from the collected genotypes and population genetic parameters including heterozygosity and allelic repeat unit variance statistics will be calculated to compare population diversities and haplotype/population associations. Phylogenetic analysis using distance (population variance) and parsimony (interhaplotypic distance) methods will construct networks of evolutionarily-related populations and haplotypes. Linkage disequilibrium statistics will be calculated to estimate microsatellite mutation rates using population modeling approaches adapted from autosomal linkage disequilibrium mapping methods. These analyses will contribute to an understanding of the dispersal and migration of ancestral Asian populations into Asia and the Americas and will describe the relationships among descendent populations through the combined population genetic, phylogenetic and linkage disequilibrium analyses performed.