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非洲遗传多样性:对人类人口历史、现代人类起源及复杂疾病图谱绘制的影响。

African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping.

作者信息

Campbell Michael C, Tishkoff Sarah A

机构信息

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19107, USA.

出版信息

Annu Rev Genomics Hum Genet. 2008;9:403-33. doi: 10.1146/annurev.genom.9.081307.164258.

Abstract

Comparative studies of ethnically diverse human populations, particularly in Africa, are important for reconstructing human evolutionary history and for understanding the genetic basis of phenotypic adaptation and complex disease. African populations are characterized by greater levels of genetic diversity, extensive population substructure, and less linkage disequilibrium (LD) among loci compared to non-African populations. Africans also possess a number of genetic adaptations that have evolved in response to diverse climates and diets, as well as exposure to infectious disease. This review summarizes patterns and the evolutionary origins of genetic diversity present in African populations, as well as their implications for the mapping of complex traits, including disease susceptibility.

摘要

对不同种族的人类群体进行比较研究,尤其是在非洲,对于重建人类进化史以及理解表型适应和复杂疾病的遗传基础至关重要。与非非洲人群相比,非洲人群的特点是遗传多样性水平更高、群体亚结构广泛,且基因座之间的连锁不平衡(LD)较少。非洲人还拥有许多因应不同气候、饮食以及接触传染病而进化出的遗传适应性。本综述总结了非洲人群中遗传多样性的模式及其进化起源,以及它们对复杂性状(包括疾病易感性)定位的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/50f1/2953791/e3d870f5b450/nihms235397f1.jpg

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