Cappellini M D, Sampietro M, Toniolo D, Carandina G, Pittalis S, Martinez di Montemuros F, Tavazzi D, Fiorelli G
Istituto di Medicina Interna e Fisiopatologia Medica, Ospedale Maggiore Policlinico, Milano, Italy.
Br J Haematol. 1994 May;87(1):209-11. doi: 10.1111/j.1365-2141.1994.tb04896.x.
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.
本文描述了在一名来自波河三角洲的意大利男性中检测到的一种新的葡萄糖-6-磷酸脱氢酶变体，并将其命名为G6PD摩德纳。该变体酶的生化特性显示其活性为正常的21%，电泳迁移率缓慢，对NADP的Km值增加，对G6P的Km值降低，且完全没有NADPH抑制作用，这可以解释该变体明显的非溶血性特征。G6PD摩德纳等位基因的克隆和测序显示，外显子VIII中第844位核苷酸发生了G→C转换，导致天冬氨酸→组氨酸的氨基酸替换。根据生化特性，G6PD摩德纳被归类为一种真正的变体，但它与类G6PD西雅图具有相同的突变。
