Address of Corresponding Author

Hum Hered 2004;58:2-9 (DOI: 10.1159/000081451)

  Key Words

• Linkage disequilibrium map
• Linkage map
• Haplotype block
• HapMap project
• Recombination hot spot

  Abstract

We examine the current effort to develop a haplotype map of the human genome and suggest an alternative approach which represents linkage disequilibrium patterns in the form of a metric LD map. LD maps have some of the useful properties of genetic linkage maps but have a much higher resolution which is optimal for SNP-based association mapping of common diseases. The studies that have been undertaken to date suggest that LD and recombination maps show some close similarities because of abundant, narrow, recombination hot spots. These hot spots are co-localised in all populations but, unlike linkage maps, LD maps differ in scale for different populations because of differences in population history. The prospects for developing optimized panels of SNPs and the use of linkage disequilibrium maps in disease gene localisation are assessed in the light of recent evidence.

Copyright © 2004 S. Karger AG, Basel

  Author Contacts

Andrew Collins
Human Genetics, School of Medicine
University of Southampton
Southampton SO16 6YD (UK)
Tel. +44 23 80 796939, Fax +44 23 80 794264, E-Mail arc@soton.ac.uk

  Article Information

Received: April 23, 2004
Accepted after revision: June 22, 2004
Number of Print Pages : 8
Number of Figures : 2, Number of Tables : 0, Number of References : 45