title: Polymorphism of extracellular superoxide dismutase (EC-SOD) gene: relation to the mutation responsible for high EC-SOD level in serum.
abstract: Extracellular superoxide dismutase (EC-SOD) with amino acid substitution R213G generated by the nucleotide substitution 760C-->G in the heparin binding domain is responsible for the high EC-SOD level in serum. We identified the two DNA polymorphic sites in the coding region of EC-SOD gene related to the 760C-->G and determined the allele frequencies. The polymorphism were A and G at nucleotide position (nt.) 241 and C and T at nt. 280 near the N-terminal. The haplotype frequencies in Japanese were 241A280C: 0.45, 241G280T: 0.37, and 241G280C: 0.18. The haplotype of 241A280T did not exist. The mutation 760C-->G must occur on the allele having the haplotype of 241G280T.
authors.affiliation: First Department of Internal Medicine, Aichi Medical University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Adachi
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
authors.forename: A
authors.initials: A
authors.lastname: Futenma
authors.forename: M
authors.initials: M
authors.lastname: Kitano
authors.forename: H
authors.initials: H
authors.lastname: Miyai
authors.forename: A
authors.initials: A
authors.lastname: Fukatsu
authors.forename: K
authors.initials: K
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Kakumu
mesh_terms: D005110:Extracellular Space / Q000201:enzymology*; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013482:Superoxide Dismutase / Q000097:blood* / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase