Global patterns of linkage disequilibrium at the CD4 locus and modern human origins

Science. 1996 Mar 8;271(5254):1380-7. doi: 10.1126/science.271.5254.1380.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Africa
  • Alleles
  • Animals
  • Base Sequence
  • CD4 Antigens / genetics*
  • Chromosomes, Human, Pair 12*
  • Evolution, Molecular*
  • Gene Frequency
  • Genetic Variation
  • Haplotypes
  • Hominidae / genetics*
  • Humans
  • Linkage Disequilibrium*
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Primates / genetics
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion

Substances

  • CD4 Antigens