Nafa K, Reghis A, Osmani N, Baghli L, Aït-Abbes H, Benabadji M, Kaplan J C, Vulliamy T, Luzzatto L
Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria.
Hum Genet. 1994 Nov;94(5):513-7. doi: 10.1007/BF00211017.
The electrophoretic mobility and level of enzyme activity of glucose-6-phosphate dehydrogenase (G6PD) was established in 100 unrelated Algerian males with G6PD deficiency. DNA from these subjects was analysed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments amplified by the polymerase chain reaction. Where the mutation could not be identified in this way, the samples were subjected to single-strand conformation polymorphism analysis and abnormal fragments were sequenced. In this way, eight different mutations have been identified, of which five are polymorphic and account for 92% of the samples. The most common variants are G6PD A- (46%) and G6PD Mediterranean (23%), both of which were associated with favism. A new polymorphic variant, G6PD Aures, has been identified during the course of this study, whereas another, G6PD Santamaria, has now been established as a polymorphic variant (11%). Thus, G6PD deficiency in Algeria is heterogeneous, suggesting that there has been significant gene flow, both from sub-Saharan Africa and from other parts of the Mediterranean.
在100名无亲缘关系的患有葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的阿尔及利亚男性中，确定了G6PD的电泳迁移率和酶活性水平。通过聚合酶链反应扩增片段的适当限制性酶切，分析这些受试者的DNA中某些已知G6PD突变的存在情况。若无法通过这种方式鉴定突变，则对样本进行单链构象多态性分析，并对异常片段进行测序。通过这种方法，已鉴定出8种不同的突变，其中5种是多态性的，占样本的92%。最常见的变体是G6PD A-（46%）和G6PD地中海型（23%），这两种变体均与蚕豆病有关。在本研究过程中鉴定出一种新的多态性变体G6PD奥雷斯，而另一种变体G6PD圣玛丽亚现已被确定为多态性变体（11%）。因此，阿尔及利亚的G6PD缺乏症具有异质性，这表明来自撒哈拉以南非洲和地中海其他地区都有显著的基因流动。
