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CD4基因座的连锁不平衡全球模式与现代人类起源。

Global patterns of linkage disequilibrium at the CD4 locus and modern human origins.

作者信息

Tishkoff S A, Dietzsch E, Speed W, Pakstis A J, Kidd J R, Cheung K, Bonné-Tamir B, Santachiara-Benerecetti A S, Moral P, Krings M

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.

出版信息

Science. 1996 Mar 8;271(5254):1380-7. doi: 10.1126/science.271.5254.1380.

Abstract

Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion polymorphism at the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, and 8 Amerindian). Sub-Saharan African populations had more haplotypes and exhibited more variability in frequencies of haplotypes than the Northeast African or non-African populations. The Alu deletion was nearly always associated with a single STRP allele in non-African and Northeast African populations but was associated with a wide range of STRP alleles in the sub-Saharan African populations. This global pattern of haplotype variation and linkage disequilibrium suggests a common and recent African origin for all non-African human populations.

摘要

在从42个地理上分散的人群(13个非洲人群、2个中东人群、7个欧洲人群、9个亚洲人群、3个太平洋人群和8个美洲印第安人群)中抽取的1600多名个体中,分析了由位于12号染色体CD4位点的短串联重复多态性(STRP)等位基因和一个Alu缺失多态性组成的单倍型。与东北非人群或非非洲人群相比,撒哈拉以南非洲人群具有更多的单倍型,并且单倍型频率表现出更大的变异性。在非非洲和东北非人群中,Alu缺失几乎总是与单个STRP等位基因相关联,但在撒哈拉以南非洲人群中,它与广泛的STRP等位基因相关联。这种单倍型变异和连锁不平衡的全球模式表明,所有非非洲人群都起源于近期的非洲共同祖先。

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