title: Multiplex single base extension method for simultaneous genotyping of non-synonymous SNP in the three human SOD genes.
abstract: The superoxide dismutases (SOD) are a family of enzymes that function as the first line of antioxidant defense against highly reactive superoxide radicals. In SOD genes, a number of SNP have been identified and their associations with various diseases have been reported. In the present study, we applied a multiplex single base extension technique to genotype multiple non-synonymous SNP in the SOD1, SOD2 and SOD3 genes simultaneously, and examined allele distributions in healthy Caucasian (German), Asian (Japanese) and African (Xhosa) populations. Of the ten SNP investigated, two (SOD2 Ala16Val, SOD3 Ala58Thr) were polymorphic in all three ethnic groups and the genotype distributions showed significant inter-group differences. On the other hand, a small number of heterozygotes were observed for three SNP (SOD2 Ser10Ile, SOD3 Ala91Thr, SOD3 Arg231Gly) and no heterogeneity was observed for the remaining five (SOD1 Thr40Ile, SOD1 Asn87Ser, SOD2 Arg156Trp, SOD2 Gly76Arg, SOD2 Glu66Val). Analyses of associations between SOD genotypes and levels of plasma SOD activity demonstrated that SOD2 Ala16Val, a dimorphism leading to substitution in the mitochondrial targeting sequence of SOD2, significantly influences plasma SOD2 activity, and that SOD3 Arg231Gly, leading to substitution in the heparin-binding domain of SOD3, significantly influences plasma total SOD activity.
authors.affiliation: Division of Forensic Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan. riida@u-fukui.ac.jp
authors.forename: Reiko
authors.initials: R
authors.lastname: Iida
authors.forename: Etsuko
authors.initials: E
authors.lastname: Tsubota
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D019075:Electrophoresis, Capillary / Q000379:methods*; D005838:Genotype; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D013482:Superoxide Dismutase / Q000097:blood / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D044465:White People / Q000235:genetics; D000099156:Superoxide Dismutase 2
chemical_list: D017931:DNA Primers; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D000099156:Superoxide Dismutase 2; C000606290:SOD1 protein, human; C441642:SOD3 protein, human