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A first-generation linkage disequilibrium map of human chromosome 22

Author

Listed:
  • Elisabeth Dawson

    (The Wellcome Trust Sanger Institute)

  • Gonçalo R. Abecasis

    (University of Oxford
    University of Michigan)

  • Suzannah Bumpstead

    (The Wellcome Trust Sanger Institute)

  • Yuan Chen

    (The Wellcome Trust Sanger Institute)

  • Sarah Hunt

    (The Wellcome Trust Sanger Institute)

  • David M. Beare

    (The Wellcome Trust Sanger Institute)

  • Jagjit Pabial

    (The Wellcome Trust Sanger Institute)

  • Thomas Dibling

    (The Wellcome Trust Sanger Institute)

  • Emma Tinsley

    (The Wellcome Trust Sanger Institute)

  • Susan Kirby

    (The Wellcome Trust Sanger Institute)

  • David Carter

    (The Wellcome Trust Sanger Institute)

  • Marianna Papaspyridonos

    (The Wellcome Trust Sanger Institute)

  • Simon Livingstone

    (The Wellcome Trust Sanger Institute)

  • Rocky Ganske

    (Third Wave Technologies Inc.)

  • Elin Lõhmussaar

    (IMCB of the University of Tartu
    Asper Ltd.)

  • Jana Zernant

    (Asper Ltd.)

  • Neeme Tõnisson

    (Asper Ltd.)

  • Maido Remm

    (IMCB of the University of Tartu
    University of Tartu)

  • Reedik Mägi

    (Asper Ltd.)

  • Tarmo Puurand

    (IMCB of the University of Tartu
    Asper Ltd.)

  • Jaak Vilo

    (European Bioinformatics Institute)

  • Ants Kurg

    (IMCB of the University of Tartu)

  • Kate Rice

    (The Wellcome Trust Sanger Institute)

  • Panos Deloukas

    (The Wellcome Trust Sanger Institute)

  • Richard Mott

    (University of Oxford)

  • Andres Metspalu

    (IMCB of the University of Tartu
    University of Tartu)

  • David R. Bentley

    (The Wellcome Trust Sanger Institute)

  • Lon R. Cardon

    (University of Oxford)

  • Ian Dunham

    (The Wellcome Trust Sanger Institute)

Abstract

DNA sequence variants in specific genes or regions of the human genome are responsible for a variety of phenotypes such as disease risk or variable drug response1. These variants can be investigated directly, or through their non-random associations with neighbouring markers (called linkage disequilibrium (LD))2,3,4,5,6,7,8. Here we report measurement of LD along the complete sequence of human chromosome 22. Duplicate genotyping and analysis of 1,504 markers in Centre d'Etude du Polymorphisme Humain (CEPH) reference families at a median spacing of 15 kilobases (kb) reveals a highly variable pattern of LD along the chromosome, in which extensive regions of nearly complete LD up to 804 kb in length are interspersed with regions of little or no detectable LD. The LD patterns are replicated in a panel of unrelated UK Caucasians. There is a strong correlation between high LD and low recombination frequency in the extant genetic map, suggesting that historical and contemporary recombination rates are similar. This study demonstrates the feasibility of developing genome-wide maps of LD.

Suggested Citation

  • Elisabeth Dawson & Gonçalo R. Abecasis & Suzannah Bumpstead & Yuan Chen & Sarah Hunt & David M. Beare & Jagjit Pabial & Thomas Dibling & Emma Tinsley & Susan Kirby & David Carter & Marianna Papaspyrid, 2002. "A first-generation linkage disequilibrium map of human chromosome 22," Nature, Nature, vol. 418(6897), pages 544-548, August.
    • Handle: RePEc:nat:nature:v:418:y:2002:i:6897:d:10.1038_nature00864
    DOI: 10.1038/nature00864
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    Cited by:

    1. Kari E. North & Lisa J. Martin, 2008. "The Importance of Gene—Environment Interaction," Sociological Methods & Research, , vol. 37(2), pages 164-200, November.

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