In this paper we report a male infant heterozygous for -thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G->T mutation at nucleotide 34 in the exon 2, which predicts a Val->Leu aminoacid substitution at codon 12. We des
G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability
β Scribed by A. Kahn; M. L. North; D. Cottreau; G. Giron; J. M. Lang; F. Oberling
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 236 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.
π SIMILAR VOLUMES
We screened 38 G6PD-deficient male Chinese neonates for known G6PD mutations using established PCR-based techniques. We found 50.0% (19 of 38) were mutation 1376G>T, 34.2% (13 of 38) were mutation 1388G>A, 5.2% (2 of 38 ) were mutation 95A>G and 2.2% (1 of 38) was mutation 1024C>T. In 7% (3 of 38) o
We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were