A high-density admixture map for disease gene discovery in african americans

Am J Hum Genet. 2004 May;74(5):1001-13. doi: 10.1086/420856. Epub 2004 Apr 14.


Admixture mapping (also known as "mapping by admixture linkage disequilibrium," or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with approximately 100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been possible to perform powerful scans with admixture mapping because the method requires a dense map of validated markers known to have large frequency differences between Europeans and Africans. To create such a map, we screened through databases containing approximately 450000 single-nucleotide polymorphisms (SNPs) for which frequencies had been estimated in African and European population samples. We experimentally confirmed the frequencies of the most promising SNPs in a multiethnic panel of unrelated samples and identified 3011 as a MALD map (1.2 cM average spacing). We estimate that this map is approximately 70% informative in differentiating African versus European origins of chromosomal segments. This map provides a practical and powerful tool, which is freely available without restriction, for screening for disease genes in African American patient cohorts. The map is especially appropriate for those diseases that differ in incidence between the parental African and European populations.

Publication types

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

MeSH terms

  • Alleles
  • Black or African American / genetics*
  • Chromosome Mapping / methods*
  • Ethnicity / genetics
  • Gene Frequency / genetics
  • Genetic Diseases, Inborn / ethnology*
  • Genetic Diseases, Inborn / genetics
  • Genetic Markers / genetics
  • Genetics, Population
  • Genome, Human
  • Haplotypes / genetics*
  • Humans
  • Linkage Disequilibrium / genetics*
  • Microsatellite Repeats
  • Polymorphism, Single Nucleotide / genetics*
  • White People / genetics


  • Genetic Markers