A High-Density Admixture Map for Disease Gene Discovery in African Americans

Michael W. Smith, Nick Patterson, James A. Lautenberger, Ann L. Truelove, Gavin J. McDonald, Alicja Waliszewska, Bailey D. Kessing, Michael J. Malasky, Charles Scafe, Ernest Le, Philip L. De Jager, Andre A. Mignault, Zeng Yi, Guy De Thé, Myron Essex, Jean Louis Sankalé, Jason H. Moore, Kwabena Poku, John P. Phair, James J. GoedertDavid Vlahov, Scott M. Williams, Sarah A. Tishkoff, Cheryl A. Winkler, Francisco M. De La Vega, Trevor Woodage, John J. Sninsky, David A. Hafler, David Altshuler, Dennis A. Gilbert, Stephen J. O'Brien, David Reich*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

391 Scopus citations


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 ∼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 ∼450,000 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 3,011 as a MALD map (1.2 cM average spacing). We estimate that this map is ∼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.

Original languageEnglish (US)
Pages (from-to)1001-1013
Number of pages13
JournalAmerican journal of human genetics
Issue number5
StatePublished - May 2004

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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