Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena |
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Authors: | Maria Domenica Cappellini Maurizio Sampietro Daniela TonioloGiovanni Carandina Salvatore Pittalis Franco Martinez di Montemuros Dario Tavazzi Gemino Fiorelli |
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Affiliation: | Istituto di Medicina Interana e Fisiopatologia Medica, Ospedale Maggiore Policlinico, Milano;Istituto di Genetica e Biochimica Evoluzionistica, CNR, Pavia;Laboratorio Analisi, Ospedale Santa Maria Bianca, Mirandola, Ferrara;Laboratorio Analisi, Ospedale San Gerardo, Monza, Italy |
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Abstract: | Summary. A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delata 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 GC 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. |
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Keywords: | G6PD enzyme variant biochemical characterization |
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