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

M. D. Cappellini, M. Sampietro, D. Toniolo, G. Carandina, S. Pittalis, F. M. Di Montemuros, D. Tavazzi, G. Fiorelli

Research output: Contribution to journalArticle

Abstract

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 K(m) value for NADP, decreased K(m) 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.

Original languageEnglish
Pages (from-to)209-211
Number of pages3
JournalBritish Journal of Haematology
Volume87
Issue number1
Publication statusPublished - 1994

Keywords

  • biochemical characterization
  • enzyme variant
  • G6PD

ASJC Scopus subject areas

  • Hematology

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    Cappellini, M. D., Sampietro, M., Toniolo, D., Carandina, G., Pittalis, S., Di Montemuros, F. M., Tavazzi, D., & Fiorelli, G. (1994). Biochemical and molecular characterization of a new sporadic glucose-6- phosphate dehydrogenase variant described in Italy: G6PD modena. British Journal of Haematology, 87(1), 209-211.