Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Haplotypic relationship between SNP and microsatellite markers at the NOS2A locus in two populations
Genes and Immunity, Volume 4, No. 7, Year 2003
Notification
URL copied to clipboard!
Description
The density of genetic markers required for successful association mapping of complex diseases depends on linkage disequilibrium (LD) between non-functional markers and functional variants. The haplotypic relationship between stable markers and potentially unstable but highly informative markers (e.g. microsatellites) indicates that LD might be maintained over considerable genetic distance in non-African populations, supporting the use of such 'mixed marker haplotypes' in LD-based mapping, and allowing inferences to be drawn about human origins. We investigated sequence variation in the proximal 2.6 kb of the inducible nitric oxide synthase (NOS2A) promoter and the relationship between SNP haplotypes and a pentanucleotide microsatellite (the 'NOS2A-2.6 microsatellite) in Gambians and UK Caucasians. UK Caucasians exhibited a subset of sequence diversity observed in Gambians, sharing four of 11 SNPs and a similar haplotypic structure. Five SNPs were found in the sequence of interspersed repetitive DNA elements. In both populations, there was dramatic loss of LD between SNP haplotypes and microsatellite alleles across a very short physical distance, suggesting a high intrinsic mutation rate of the NOS2A-2.6 microsatellite, the SNP haplotypes are relatively ancient, or that this was a region of frequent recombination. Understanding locus- and population-specific LD is essential when designing and interpreting genetic association studies. © 2003 Nature Publishing Group All rights reserved.
Authors & Co-Authors
Burgner, David Paul
United Kingdom, Oxford
The Wellcome Centre for Human Genetics
Australia, Perth
The University of Western Australia
Rockett, Kirk A.
United Kingdom, Oxford
The Wellcome Centre for Human Genetics
Ackerman, Hans C.
United Kingdom, Oxford
The Wellcome Centre for Human Genetics
Hull, Jeremy
United Kingdom, Oxford
The Wellcome Centre for Human Genetics
Usen, Stanley Ohunwu I.S.E.
Gambia, Banjul
Medical Research Council Laboratories Gambia
Pinder, Margaret
Gambia, Banjul
Medical Research Council Laboratories Gambia
Kwiatkowski, Dominic P.
United Kingdom, Oxford
The Wellcome Centre for Human Genetics
Statistics
Citations: 54
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1038/sj.gene.6364022
ISSN:
14664879
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study