Send to

Choose Destination
See comment in PubMed Commons below
Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.

Haplotype variation and linkage disequilibrium in 313 human genes.

Author information

Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA.

Erratum in

  • Science 2001 Aug 10;293(5532):1048.


Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

[Indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center