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Perspective
Nature Genetics  36, S21 - S27 (2004)
Published online: ; | doi:10.1038/ng1438

Implications of biogeography of human populations for 'race' and medicine

Sarah A Tishkoff1 & Kenneth K Kidd2

1  Department of Biology, Building #144, University of Maryland, College Park, Maryland 20742, USA.

2  Department of Genetics, Yale University School of Medicine, PO Box 208005, New Haven, Connecticut 06520-8005, USA.

Correspondence should be addressed to Sarah A Tishkoff tishkoff@umd.edu or Kenneth K Kidd kenneth.kidd@yale.edu
In this review, we focus on the biogeographical distribution of genetic variation and address whether or not populations cluster according to the popular concept of 'race'. We show that racial classifications are inadequate descriptors of the distribution of genetic variation in our species. Although populations do cluster by broad geographic regions, which generally correspond to socially recognized races, the distribution of genetic variation is quasicontinuous in clinal patterns related to geography. The broad global pattern reflects the accumulation of genetic drift associated with a recent African origin of modern humans, followed by expansion out of Africa and across the rest of the globe. Because disease genes may be geographically restricted due to mutation, genetic drift, migration and natural selection, knowledge of individual ancestry will be important for biomedical studies. Identifiers based on race will often be insufficient.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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