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

Br J Haematol. 1994 May;87(1):209-11. doi: 10.1111/j.1365-2141.1994.tb04896.x.

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 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • Glucosephosphate Dehydrogenase