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.
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. Martinez Di Montemuros, D. Tavazzi, G. Fiorelli. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - 87:1(1994 May), pp. 209-211.
Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy : G6PD Modena
M.D. CappelliniPrimo
;M. SampietroSecondo
;F. Martinez Di Montemuros;D. TavazziPenultimo
;G. FiorelliUltimo
1994
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.Pubblicazioni consigliate
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