Stamatoyannopoulos G, Voigtlander V, Kotsakis P, Akrivakis A
J Clin Invest. 1971 Jun;50(6):1253-61. doi: 10.1172/JCI106603.
Genetic diversity of the "Mediterranean" phenotype of G-6-PD (glucose-6-phosphate dehydrogenase) deficiency was revealed when detailed studies were performed on blood specimens from 79 Greek males with G-6-PD levels 0-10% of normal. Four different mutants were found to be responsible for the severely deficient phenotypes: two mutants. G-6-PD U-M (Union-Markham) and G-6-PD Orchomenos, were distinguishable by electrophoresis, while the other two. G-6-PD Athens-like and G-6-PD Mediterranean, were distinguishable on the basis of their kinetic characteristics. Of the kinetic tests applied, the most useful for differentiating the variants were those measuring utilization rates of the analogue substrates deamino-NADP, 2-deoxyglucose-6-phosphate, and galactose-6-phosphate. Among unrelated males with severe G-6-PD deficiency, the relative frequencies of the four variants were: G-6-PD U-M. 5%; G-6-PD Orchomenos, 7%; G-6-PD Athens-like, 16%; G-6-PD Mediterranean, 72%. Genetic, biochemical, and clinical implications of the findings are discussed.
当对79名葡萄糖-6-磷酸脱氢酶（G-6-PD）水平为正常水平0 - 10%的希腊男性血液样本进行详细研究时，发现了G-6-PD缺乏症“地中海型”表型的遗传多样性。发现有四种不同的突变体导致严重缺乏表型：两种突变体，即G-6-PD U-M（尤宁-马克姆型）和G-6-PD奥科美诺斯型，可通过电泳区分，而另外两种，即G-6-PD雅典样型和G-6-PD地中海型，则可根据其动力学特征区分。在所应用的动力学测试中，对区分这些变体最有用的是测量类似底物脱氨基NADP、2-脱氧葡萄糖-6-磷酸和半乳糖-6-磷酸利用率的测试。在患有严重G-6-PD缺乏症的无关男性中，这四种变体的相对频率分别为：G-6-PD U-M型，5%；G-6-PD奥科美诺斯型，7%；G-6-PD雅典样型，16%；G-6-PD地中海型，72%。文中讨论了这些发现的遗传学、生物化学和临床意义。
