Summary
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 polymorphisms 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.
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References
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Yamada, H., Yamada, Y., Adachi, T. et al. Polymorphism of extracellular superoxide dismutase (EC-SOD) gene: relation to the mutation responsible for high EC-SOD level in serum. Jap J Human Genet 42, 353–356 (1997). https://doi.org/10.1007/BF02766958
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DOI: https://doi.org/10.1007/BF02766958
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