Molecular characterization of G6PD Insuli--a novel 989 CGC --> CAC (330 Arg --> His) mutation in the Indian population.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common red cell enzymopathy among humans. G6PD deficiency was reported in India more than 30 years ago and about 13 biochemically characterized variants have been reported. We now describe the molecular characterization of a distinct biochemical variant from India which was previously characterized by us as a unique Class IV variant with fast electrophoretic mobility. The sequence of the G6PD gene from this variant has revealed the presence of a novel 989 G --> A mutation in exon 9 with a predicted amino acid change of Arg330His.
Sukumar
S
S
Institute of Immunohaematology, Indian Council of Medical Research, Mumbai 400 012, India.
Mukherjee
M B
MB
Colah
R B
RB
Mohanty
D
D
D000293:Adolescent; D001120:Arginine; D004252:DNA Mutational Analysis; D005091:Exons; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D006639:Histidine; D006801:Humans; D007194:India / Q000453:epidemiology; D007700:Kinetics; D008297:Male; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D017354:Point Mutation
C482911:glucose-6-phosphate dehydrogenase Insuli; D006639:Histidine; D001120:Arginine; D005954:Glucosephosphate Dehydrogenase