The molecular biology of variation in glucose-6-phosphate dehydrogenase.
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.
Beutler
E
E
Research Institute of Scripps Clinic, La Jolla, CA 92037.
Vives-Corrons
J L
JL
Hirono
A
A
Prchal
J T
JT
Crader
W
W
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
D005954:Glucosephosphate Dehydrogenase