Nature 319, 491 - 493 (06 February 1986); doi:10.1038/319491a0

Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms

J. S. Wainscoat, A. V. S. Hill, A. L. Boyce^*, J. Flint, M. Hernandez, S. L. Thein, J. M. Old, J. R. Lynch, A. G. Falusi^†, D. J. Weatherall & J. B. Clegg

Medical Research Council Molecular Haematology Unit, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
^*Department of Biological Anthropology, University of Oxford, Oxford OX2 6QS, UK
^†Department of Haematology, University College Hospital, Ibadan, Nigeria

The genetic relationships of human populations have been studied by comparing gene frequency data for protein and blood-group loci of different populations^1,2. DNA analysis now promises to be more informative since not only do the DNA coding sequences have more variation than their corresponding proteins but, in addition, noncoding DNA sequences display more extensive polymorphism^3,4. We have now studied the frequency of a group of closely linked nuclear DNA polymorphisms (haplotypes)⁵ in the -globin gene cluster of normal (^A) chromosomes of individuals from eight diverse populations. We have found that all non-African populations share a limited number of common haplotypes whereas Africans have predominantly a different haplotype not found in other populations. Genetic distance analysis based on these nuclear DNA polymorphisms indicates a major division of human populations into an African and a Eurasian group.

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