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Science 8 March 1996:
Vol. 271. no. 5254, pp. 1380 - 1387
DOI: 10.1126/science.271.5254.1380
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Articles

Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins

S. A. Tishkoff, E. Dietzsch, W. Speed, A. J. Pakstis, J. R. Kidd, K. Cheung, B. Bonné-Tamir, A. S. Santachiara-Benerecetti, P. Moral, M. Krings, S. Pääbo, E. Watson, N. Risch, T. Jenkins, K. K. Kidd

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.

S. A. Tishkoff, W. Speed, A. J. Pakstis, J. R. Kidd, K. Cheung, and K. K. Kidd are in the Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8005, USA. E. Dietzsch and T. Jenkins are in the Department of Human Genetics, School of Pathology, South African Institute for Medical Research, and University of the Witwatersrand, Post Office Box 1038, Johannesburg 2000, South Africa. B. Bonné-Tamir is in the Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, 69978 Ramat Aviv, Israel. A. S. Santachiara-Benerecetti is in the Buzzati Traverso Department of Genetics and Microbiology, University of Pavia, Via Abbiategrasso 207, 27100 Pavia, Italy. P. Moral is in the Department of Animal Biology, University of Barcelona, Avinguda Diagonal 645, 08028 Barcelona, Spain. M. Krings and S. Pääbo are at the Institute of Zoology, University of Munich, P.O. Box 202136, D-80021 Munich, Germany. E. Watson is at the Institute of Zoology, University of Munich, Luisenstrasse 14, 80333 Munich 2, Germany, and School of Biological Sciences, Massey University, Palmerston North, New Zealand. N. Risch is in the Department of Genetics, Stanford University Medical School, Stanford, CA 94305, USA.


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