Linkage Disequilibrium for Different Scales and Applications

Brief Bioinform. 2004 Dec;5(4):355-64. doi: 10.1093/bib/5.4.355.


Assessing the patterns of linkage disequilibrium (LD) has become an important issue in both evolutionary biology and medical genetics since the rapid accumulation of densely spaced DNA sequence variation data in several organisms. LD deals with the correlation of genetic variation at two or more loci or sites in the genome within a given population. There are a variety of LD measures which range from traditional pairwise LD measures such as D' or r2 to entropy-based multi-locus measures or haplotype-specific approaches. Understanding the evolutionary forces (in particular recombination) that generate the observed variation of LD patterns across genomic regions is addressed by model-based LD analysis. Marker type and its allelic composition also influence the observed LD pattern, microsatellites having a greater power to detect LD in population isolates than SNPs. This review aims to explain basic LD measures and their application properties.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Algorithms*
  • Animals
  • Chromosome Mapping / methods*
  • Computer Simulation
  • DNA Mutational Analysis / methods*
  • Humans
  • Linkage Disequilibrium / genetics*
  • Models, Genetic*
  • Models, Statistical
  • Sequence Alignment / methods*
  • Sequence Analysis, DNA / methods*