Biology Faculty Articles
Title
Significant Admixture Linkage Disequilibrium Across 30 cM Around the FY Locus in African Americans
Document Type
Article
Publication Date
3-2000
Publication Title
American Journal of Human Genetics
ISSN
0002-9297
Volume
66
Issue/No.
3
First Page
969
Last Page
978
Abstract
Scientists, to understand the importance of allelic polymorphisms on phenotypes that are quantitative and environmentally interacting, are now turning to population-association screens, especially in instances in which pedigree analysis is difficult. Because association screens require linkage disequilibrium between markers and disease loci, maximizing the degree of linkage disequilibrium increases the chances of discovering functional gene-marker associations. One theoretically valid approach—mapping by admixture linkage disequilibrium (MALD), using recently admixed African Americans—is empirically evaluated here by measurement of marker associations with 15 short tandem repeats (STRs) and an insertion/deletion polymorphism of the AT3 locus in a 70-cM segment at 1q22-23, around the FY (Duffy) locus. The FY polymorphism (−46T→C) disrupts the GATA promoter motif, specifically blocking FY erythroid expression and has a nearly fixed allele-frequency difference between European Americans and native Africans that is likely a consequence of a selective advantage of FY−/− in malaria infections. Analysis of linkage disequilibrium around the FY gene has indicated that there is strong and consistent linkage disequilibrium between FY and three flanking loci (D1S303, SPTA1, and D1S484) spanning 8 cM. We observed significant linkage-disequilibrium signals over a 30-cM region from −4.4 to 16.3 cM (from D1S2777 to D1S196) for STRs and at 26.4 cM (AT3), which provided quantitative estimates of centimorgan limits, by MALD assessment in African American population-association analyses, of 5–10 cM.
Additional Comments
NCI contract #: NO1-CO-56000
NSUWorks Citation
Lautenberger, J. A.; J. Claiborne Stephens; Stephen J. O'Brien; and Michael W. Smith. 2000. "Significant Admixture Linkage Disequilibrium Across 30 cM Around the FY Locus in African Americans." American Journal of Human Genetics 66, (3): 969-978. https://nsuworks.nova.edu/cnso_bio_facarticles/799
ORCID ID
0000-0001-7353-8301
ResearcherID
N-1726-2015
Comments
This article is in the public domain. No copyright is claimed.