Costa E, Cabeda J M, Vieira E, Pinto R, Pereira S A, Ferraz L, Santos R, Barbot J
Serviço de Hematologia Clínica, Hospital de Crianças Maria Pia, Porto, Portugal.
Blood. 2000 Feb 15;95(4):1499-501.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (Blood. 2000;95:1499-1501)
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种常见的X连锁酶异常。临床表型多样，但通常可从分子病变预测。I类变异（该疾病最严重的形式）聚集在外显子10内，在蛋白质水平上，该区域被认为与二聚化有关。在此，我们描述了一种新的I类变异（G6PD阿威罗）的新发突变（C269Y），该突变定位于外显子8。在造血细胞和颊细胞中均发现了突变和正常等位基因，表明存在嵌合体。该蛋白质的现有模型预测，此病变位于分子二聚体界面附近。提出了一种解释该缺陷严重性的可能机制。（《血液》。2000年；95:1499 - 1501）
