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Biochemical and molecular characterization of a new sporadic glucose‐6‐phosphate dehydrogenase variant described in Italy: G6PD Modena
Author(s) -
Cappellini Maria Domenica,
Sampietro Maurizio,
Toniolo Daniela,
Carandina Giovanni,
Pittalis Salvatore,
Montemuros Franco Martinez di,
Tavazzi Dario,
Fiorelli Gemino
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb04896.x
Subject(s) - glucose 6 phosphate dehydrogenase , dehydrogenase , exon , microbiology and biotechnology , amino acid substitution , mutation , enzyme , nucleotide , biology , biochemistry , allele , transition (genetics) , genetics , amino acid , gene
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 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 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.