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| A first-generation linkage disequilibrium map of human chromosome 22 |
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| Author(s): Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lohmmussaar E, Zernant J, Tonisson N, Remm M, Magi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR, Dunham I |
| Source: NATURE Volume: 418 Issue: 6897 Pages: 544-548 Published: AUG 1 2002 |
| Times Cited: 229 References: 30 |
| 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 response(1). These variants can be investigated directly, or through their non-random associations with neighbouring markers (called linkage disequilibrium (LD))(2-8). 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Dunham, I (reprint author), Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge CB10 1SA, England |
Addresses:
1. Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
2. Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
3. Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA
4. Third Wave Technol Inc, Madison, WI 53719 USA
5. Univ Tartu, IMCB, EE-51010 Tartu, Estonia
6. Univ Tartu, Estonian Bioctr, EE-51010 Tartu, Estonia
7. Asper Ltd, EE-51014 Tartu, Estonia
8. European Bioinformat Inst, Cambridge CB10 1SD, England |
| Publisher: NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: 579EE |
| ISSN: 0028-0836 |
| DOI: 10.1038/nature00864 |
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