Molecular analysis of eight biochemically unique glucose-6-phosphate
dehydrogenase variants found in Japan
A Hirono, H Fujii, T Takano, Y Chiba, Y Azuno and S Miwa
Okinaka Memorial Institute for Medical Research, Minato-ku, Tokyo, Japan.
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 Kamiube (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 1 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.
Volume 89,
Issue 12,
pp. 4624-4627,
06/15/1997
Copyright © 1997 by The American Society of Hematology
