A first-generation linkage disequilibrium map of human chromosome 22
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Open Access
- 10 July 2002
- journal article
- letter
- Published by Springer Nature in Nature
- Vol. 418 (6897) , 544-548
- https://doi.org/10.1038/nature00864
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.Keywords
This publication has 27 references indexed in Scilit:
- Identification of common molecular subsequencesPublished by Elsevier ,2004
- Merlin—rapid analysis of dense genetic maps using sparse gene flow treesNature Genetics, 2001
- Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21Science, 2001
- Comparison of human genetic and sequence-based physical mapsNature, 2001
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001
- Extent and Distribution of Linkage Disequilibrium in Three Genomic RegionsAmerican Journal of Human Genetics, 2001
- Arrayed Primer Extension: Solid-Phase Four-Color DNA Resequencing and Mutation Detection TechnologyGenetic Testing, 2000
- Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1American Journal of Medical Genetics, 1994
- A second-generation linkage map of the human genomeNature, 1992
- Estimation of linkage disequilibrium in randomly mating populationsHeredity, 1979