Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena

• Published in: British journal of haematology Vol. 87; no. 1; p. 209
• Main Authors: Cappellini, M D, Sampietro, M, Toniolo, D, Carandina, G, Pittalis, S, Martinez di Montemuros, F, Tavazzi, D, Fiorelli, G
• Format: Journal Article
• Language: English
• Published: England 01.05.1994
• Subjects: Adult; Base Sequence; Electrophoresis, Cellulose Acetate; Glucosephosphate Dehydrogenase - chemistry; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase - metabolism; Glucosephosphate Dehydrogenase Deficiency - enzymology; Glucosephosphate Dehydrogenase Deficiency - genetics; Humans; Hydrogen-Ion Concentration; Male; Molecular Sequence Data; Mutation
• ISSN: 0007-1048
• DOI: 10.1111/j.1365-2141.1994.tb04896.x

A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delta is described and designated as G6PD Modena. Biochemical characterization of the variant enzyme revealed an activity 21% of normal, a slow electrophoretic mobility, increased Km value for NADP, decreased Km value for G6P and a complete absence of NADPH inhibition, which could account for the apparently nonhaemolytic feature of this variant. The cloning and sequencing of the G6PD Modena allele showed a G-->C transition at nucleotide 844 in exon VIII causing a Asp-->His amino acid substitution. On the basis of biochemical characterization, G6PD Modena is classified as a genuine variant but it has the same mutation as G6PD Seattle-like.