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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: Inter-population heterogeneity of allelic variation
Molecular and Cellular Probes, Volume 15, No. 4, Year 2001
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Description
Five single nucleotide polymorphisms (SNPs) in the protoporphyrinogen oxidase gene (PPOX) were used for inter-population comparisons of six South African populations and two non-South African Caucasian populations. Novel polymorphisms identified in the promoter region and exon 11 of the PPOX gene, as well as three known variants in exon 1 and intron 2, were analysed using single-strand conformation polymorphism (SSCP) and restriction enzyme analyses. Significant population differences were found for four of the five polymorphisms analysed. A G-to-A transition was found at nucleotide position -1081 and is the first polymorphism to be identified in the 5′ promoter region of the gene. A novel A-to-C substitution at nucleotide position 3880 in exon 11 was not detected in subjects of European descent. This study represents the first inter-population comparison of allelic variation at the PPOX locus. The significant differences observed between populations demonstrate the importance of population considerations when marker association studies are performed at this locus. © 2001 Academic Press.
Authors & Co-Authors
Warnich, Louise
South Africa, Stellenbosch
Stellenbosch University
Waso, H. F.J.
South Africa, Stellenbosch
Stellenbosch University
Groenewald, Ilse M.
South Africa, Stellenbosch
Stellenbosch University
Bester-van der Merwe, Aletta Elizabeth
South Africa, Stellenbosch
Stellenbosch University
de Villiers, J. Nico P.
South Africa, Stellenbosch
Stellenbosch University
Kotze, Maritha J.
South Africa, Stellenbosch
Stellenbosch University
Lynch, Andy G.
South Africa, Stellenbosch
Stellenbosch University
Louw, Jan Hendrik
South Africa, Stellenbosch
Stellenbosch University
Statistics
Citations: 8
Authors: 8
Affiliations: 1
Identifiers
Doi:
10.1006/mcpr.2001.0360
ISSN:
08908508
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study