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. Bonne-Tamir, A. S. Santachiara-Benerecetti, P. Moral, M. Krings, S. Paabo, E. Watson, N. Risch, T. Jenkins, K. K. Kidd

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

493 Scopus citations


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.

Original languageEnglish
Pages (from-to)1380-1387
Number of pages8
Issue number5254
StatePublished - 8 Mar 1996
Externally publishedYes


FundersFunder number
National Institute of Mental HealthR01MH039239
National Institute on Alcohol Abuse and AlcoholismR01AA009379
National Human Genome Research InstituteR01HG000348


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