Testa U, Meloni T, Lania A, Battistuzzi G, Cutillo S, Luzzatto L
Hum Genet. 1980;56(1):99-105. doi: 10.1007/BF00281577.
Glucose 6-phosphate dehydrogenase (G6PD) activity was assayed quantitatively in red cells from 100 consecutive G6PD-deficient newborn male babies born in a city hospital in Sassari, Sardinia. In four cases G6PD activity was between 30% and 45% of normal: these appeared on electrophoresis to be identical with G6PD Seattle-like. In 65 cases G6PD activity ranged from 2% to 14% of normal, while in the remaining 31 samples no activity could be detected in crude hemolysates. G6PD was partiall purified from 39 samples having activity below 14% of normal (including 20 with zero activity). G6PD activity could now be determined in all, and it was fully characterized in nine samples. These were shown to belong to two distinct classes on grounds of the Michaelis constant for glucose 6-phosphate and the elution profile from DEAE-Sephadex columns. These properties were compared with those of G6PD-deficient samples from Greece and from Israel. We conclude that there are at least three polymorphic G6PD-deficient variants in Northern Sardinia: G6PD Seattle-like, G6PD Mediterranean, and a new variant, which we designate G6PD Sassari. The GdMediterranean and GdSassari genes have been shown to breed true in family studies. We also produce evidence that the definition of G6PD Mediterranean must be carefully reassessed.
对撒丁岛萨萨里市一家城市医院出生的100例连续的G6PD缺乏症男婴的红细胞进行了葡萄糖6-磷酸脱氢酶（G6PD）活性的定量测定。4例G6PD活性为正常的30%至45%：这些在电泳上显示与类西雅图G6PD相同。65例G6PD活性范围为正常的2%至14%，而其余31个样本在粗溶血产物中未检测到活性。从39个活性低于正常14%的样本（包括20个活性为零的样本）中部分纯化了G6PD。现在可以在所有样本中测定G6PD活性，并在9个样本中对其进行了全面表征。根据6-磷酸葡萄糖的米氏常数和从DEAE-葡聚糖凝胶柱上的洗脱图谱，这些样本被证明属于两个不同的类别。将这些特性与来自希腊和以色列的G6PD缺乏症样本的特性进行了比较。我们得出结论，在撒丁岛北部至少有三种多态性G6PD缺乏症变体：类西雅图G6PD、地中海G6PD和一种新变体，我们将其命名为萨萨里G6PD。在家族研究中已证明地中海Gd和萨萨里Gd基因能够稳定遗传。我们还提供了证据表明必须仔细重新评估地中海G6PD的定义。
