Y染色体序列变异与人类种群历史。

Y chromosome sequence variation and the history of human populations.

作者信息

Underhill P A, Shen P, Lin A A, Jin L, Passarino G, Yang W H, Kauffman E, Bonné-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd J R, Mehdi S Q, Seielstad M T, Wells R S, Piazza A, Davis R W, Feldman M W, Cavalli-Sforza L L, Oefner P J

机构信息

Department of Genetics, Stanford University, Stanford, California,

出版信息

Nat Genet. 2000 Nov;26(3):358-61. doi: 10.1038/81685.

DOI:10.1038/81685

PMID:11062480

Abstract

Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromatography (DHPLC; ref. 2) to identify 160 of the 166 bi-allelic and 1 tri-allelic site that formed a parsimonious genealogy of 116 haplotypes, several of which display distinct population affinities based on the analysis of 1062 globally representative individuals. A minority of contemporary East Africans and Khoisan represent the descendants of the most ancestral patrilineages of anatomically modern humans that left Africa between 35,000 and 89,000 years ago.

摘要

与人类Y染色体非重组区域（NRY）相关的二元多态性保留了我们物种至今仍然存在的父系遗传遗产，从而有助于推断人类进化、种群亲缘关系和人口历史。我们使用变性高效液相色谱法（DHPLC；参考文献2），在166个双等位基因位点和1个三等位基因位点中鉴定出160个，这些位点构成了一个由116个单倍型组成的简约谱系，基于对1062名具有全球代表性个体的分析，其中有几个单倍型显示出明显的种群亲缘关系。少数当代东非人和科伊桑人代表了35000至89000年前离开非洲的解剖学意义上现代人类最古老父系谱系的后裔。