Biology Faculty Articles

Title

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

Document Type

Article

Publication Date

5-2004

Publication Title

American Journal of Human Genetics

ISSN

0002-9297

Volume

74

Issue/No.

5

First Page

1001

Last Page

1013

Abstract

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.

Comments

©2004 by The American Society of Human Genetics. All rights reserved.

Additional Comments

NIH grant #s: HG002758-01, HL-65234; National Institute of Neurological Disorders and Stroke grant #: K08 NS046341; National Cancer Institute contract #: NO1-CO-12400; NIH/National Institute of Allergy and Infectious Diseases subcontract #: U19-AI50864

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015

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