Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan

Abstract

We analyzed the molecular mutations of eight known Japanese glucose-6- phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C→T, G6PD Asahikawa by 695 G→A, and G6PD Kamiube by 1387 C→T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro→Phe) and G6PD Kemiube (463 Arg→Cys) were located in regions near the amino or carboxyl end of the polypeptide chain, whereas an amino acid change 232 Cys→Tyr causing a class ↑ variant G6PD Asahikawa was located in the region where amino acid alterations in some class 1 variants were clustered. The other five variants had known missense mutations, namely, G6PD Fukushima, 1246 G→A, G6PD Morioka, 1339 G→A, and G6PD Iwate, G6PD Niigata and G6PD Yamaguchi, 1160 G→A, which cause variants, G6PD Tokyo, G6PD Santiago de Cuba, and G6PD Beverly Hills, respectively.