title: The molecular biology of variation in glucose-6-phosphate dehydrogenase.
abstract: The complete cDNA sequence of G-6-PD is now known, and the application of modern technology has made it possible to rapidly accumulate sequence data regarding G-6-PD variants. The information that has become available demonstrates that there are several different types of G-6-PD A(-) but all have in common the mutation that is characteristic of G-6-PD A(+), viz. a substitution of G for A at nucleotide 376. Moreover, the same nucleotide substitutions have been found in Spanish and Italian subjects, indicating that the G-6-PD A(-) mutation is much more common in non-African populations than had been thought. G-6-PD Mediterranean, on the other hand, seems to be more uniform than had been thought previously. A wealth of information regarding structure/function relationship of enzymes is potentially available through the study of G-6-PD variants.
authors.affiliation: Research Institute of Scripps Clinic, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: J L
authors.initials: JL
authors.lastname: Vives-Corrons
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: J T
authors.initials: JT
authors.lastname: Prchal
authors.forename: W
authors.initials: W
authors.lastname: Crader
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D014644:Genetic Variation / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D005954:Glucosephosphate Dehydrogenase