Beutler E, Westwood B, Kuhl W
Department of Molecular and Experimental Medicine, Research Institute of Scripps Clinic, Scripps Clinic and Research Foundation, La Jolla, Calif.
Acta Haematol. 1991;86(4):179-82. doi: 10.1159/000204830.
We report the nucleotide (nt) substitutions of four unrelated glucose-6-phosphate dehydrogenase (G6PD)-deficient males. Only the mutation of G6PD Wayne was unique. It was a nt 769 C----G substitution causing a deduced substitution of glycine for arginine at amino acid 257. This mutation is in a region in which G6PD mutations have previously been associated with chronic hemolytic anemia. The mutation of G6PD Jammu and G6PD Viangchan were identical: a G----A mutation at nucleotide 871, predicting a Val----Met substitution at amino acid 291. However, these two variants differ with respect to the 1311 polymorphism, suggesting that they may have arisen independently. Enzyme from a child with chronic hemolytic anemia, designated G6PD 'LeJeune', proved to be due to a G----T substitution at nt 637, a change identical with that in 3 unrelated patients who had been reported previously as having G6PD Gastonia, Minnesota and Marion. These findings support the suggestion that both polymorphic and sporadic G6PD deficiency mutations in unrelated persons with G6PD deficiency are often the same, even when thought to be distinct on the basis of biochemical characterization.
我们报告了4名无亲缘关系的葡萄糖-6-磷酸脱氢酶（G6PD）缺乏男性的核苷酸（nt）替代情况。只有G6PD韦恩突变是独特的。它是nt 769 C→G替代，导致在氨基酸257处精氨酸被甘氨酸替代。该突变位于一个区域，此前G6PD突变与慢性溶血性贫血有关。G6PD查谟突变和G6PD万象突变相同：核苷酸871处的G→A突变，预测氨基酸291处缬氨酸被甲硫氨酸替代。然而，这两个变体在1311多态性方面存在差异，表明它们可能是独立产生的。一名患有慢性溶血性贫血的儿童的酶，命名为G6PD“勒热纳”，被证明是由于nt 637处的G→T替代，这一变化与之前报道的3名无亲缘关系的患者相同，他们被诊断为G6PD加斯托尼亚、明尼苏达和马里恩型。这些发现支持了这样一种观点，即无亲缘关系的G6PD缺乏者中的多态性和散发性G6PD缺乏突变通常是相同的，即使根据生化特征认为它们是不同的。
