A first-generation linkage disequilibrium map of human chromosome 22

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 Papaspyridonos, Simon Livingstone, Rocky Ganske, Elin Lõhmussaar, Jana Zernant, Neeme Tõnisson, Maido Remm, Reedik Mägi, Tarmo Puurand, Jaak Vilo, Ants Kurg, Kate Rice, Panos Deloukas, Richard Mott, Andres Metspalu, David R. Bentley, Lon R. Cardon () and Ian Dunham ()
Additional contact information
Elisabeth Dawson: The Wellcome Trust Sanger Institute
Gonçalo R. Abecasis: University of Oxford
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
Jana Zernant: Asper Ltd.
Neeme Tõnisson: Asper Ltd.
Maido Remm: IMCB of the University of Tartu
Reedik Mägi: Asper Ltd.
Tarmo Puurand: IMCB of the University of Tartu
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
David R. Bentley: The Wellcome Trust Sanger Institute
Lon R. Cardon: University of Oxford
Ian Dunham: The Wellcome Trust Sanger Institute

Nature, 2002, vol. 418, issue 6897, 544-548

Abstract: 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.

Date: 2002
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/nature00864 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:418:y:2002:i:6897:d:10.1038_nature00864

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature00864

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().