title: Biochemical characteristics of four common molecular variants in glucose-6-phosphate dehydrogenase-deficient Chinese in Singapore.
abstract: Biochemical characteristics were determined for four common molecular variants of glucose-6-phosphate dehydrogenase (G6PD) deficiency and 10 non-deficient Chinese males in Singapore. The variants included one Mediterranean (nt563 C-->T), two Canton (G-->T at nt1376) and one each of Kaiping (1388 G-->A) and Chinese-5 (1024 C-->T) variants. Molecular identification was carried out by amplication of genomic DNA with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. All the variants had low enzyme activity in red cells (0.2-0.6 IU/g Hb). All but the Chinese-5 variant (nt1024) had a normal Km for NADP (7-10 microM). The Mediterranean variant had a high utilization of deamino-NADP (296%), followed by the Canton variant 1376 substitution (131%). The Km for glucose-6-phosphate was low in the Mediterranean and 1376 variant (18-40 microM) but high in the 1024 substitution (104 microM). Electrophoretic mobility in TEB buffer (pH 8.6) was slightly faster (103%) for the 1376 mutation while 100% for all the others. All but the 1024 substitution had increased analogue utilization for galactose-6-phosphate and 2-deoxy-glucose-6-phosphate (58 and 68% for the Mediterranean mutation and 14-23% for the 1376 and 1388 substitutions, respectively), and reduced heat stability.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, National University of Singapore.
authors.forename: N
authors.initials: N
authors.lastname: Saha
authors.forename: S H
authors.initials: SH
authors.lastname: Hong
authors.forename: P S
authors.initials: PS
authors.lastname: Low
authors.forename: J S
authors.initials: JS
authors.lastname: Tay
mesh_terms: D002681:China / Q000208:ethnology; D017931:DNA Primers; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000235:genetics*; D006801:Humans; D007700:Kinetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012846:Singapore
chemical_list: D017931:DNA Primers; D005954:Glucosephosphate Dehydrogenase