Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations

Am J Hum Genet. 1999 Jun;64(6):1728-38. doi: 10.1086/302398.

Abstract

Linkage disequilibrium (LD) mapping may be a powerful means for genome screening to identify susceptibility loci for common diseases. A new statistical approach for detection of LD around a disease gene is presented here. This method compares the distribution of haplotypes in affected individuals versus that expected for individuals descended from a common ancestor who carried a mutation of the disease gene. Simulations demonstrate that this method, which we term "ancestral haplotype reconstruction" (AHR), should be powerful for genome screening of phenotypes characterized by a high degree of etiologic heterogeneity, even with currently available marker maps. AHR is best suited to application in isolated populations where affected individuals are relatively recently descended (< approximately 25 generations) from a common disease mutation-bearing founder.

MeSH terms

  • Founder Effect*
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium*