Glucose-6-phosphate dehydrogenase variants: reexamination of G6PD Chicago and Cornell and a new variant (G6PD Pea Ridge) resembling G6PD Chicago.
Two large and unrelated families were investigated for hereditary nonspherocytic hemolytic anemia associated with deficiency of erythrocyte glucose-6-phosphate dehydrogenase (G6PD). In both families, the kinetic and electrophoretic features of the G6PD variants resembled those of G6PD Chicago. Further investigation revealed that members of one of these families previously had been characterized as having the G6PD variants Chicago and Cornell. However, it is clear that each of these terms has been applied to the same variant in this single large kindred. In the second family, we describe a newly identified variant with unique characteristics, which we have designated G6PD Pea Ridge. G6PD Pea Ridge resembles G6PD Chicago but differs in electrophoretic mobility and in a few kinetic parameters. It exhibits an unusually high Ki for NADPH and thus appears to be insensitive to product inhibition. As other cases previously considered to be the Chicago variant become more fully characterized, this probably will be shown to be a heterogeneous group of variants.
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood; D001131:Arkansas; D002021:Buffers; D002641:Chicago; D002648:Child; D004586:Electrophoresis; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D008297:Male; D010375:Pedigree
D002021:Buffers; D005954:Glucosephosphate Dehydrogenase