title: Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation.
abstract: 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.
authors.affiliation: Department of Genetics, University of Stellenbosch, Stellenbosch, South Africa. lw@maties.sun.ac.za
authors.forename: L
authors.initials: L
authors.lastname: Warnich
authors.forename: H F
authors.initials: HF
authors.lastname: Waso
authors.forename: I M
authors.initials: IM
authors.lastname: Groenewald
authors.forename: A E
authors.initials: AE
authors.lastname: Bester
authors.forename: J N
authors.initials: JN
authors.lastname: de Villiers
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: A G
authors.initials: AG
authors.lastname: Lynch
authors.forename: J H
authors.initials: JH
authors.lastname: Louw
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001315:Australia; D001530:Belgium; D044383:Black People / Q000235:genetics; D005420:Flavoproteins; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007194:India; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase; D013019:South Africa; D044465:White People / Q000235:genetics
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase