Laboratory of Natural Substances, Pharmacology, Environment, Modeling, Health, and Quality of Life (SNAMOPEQ), Department of Biology, Faculty of Sciences Dhar El Mahraz, University Sidi Mohamed Ben Abdallah, 30000 Fez, Morocco.
Medical Analysis Laboratory (Maurilab), 2434 Nouakchott, Mauritania.
Front Biosci (Schol Ed). 2023 Sep 25;15(3):11. doi: 10.31083/j.fbs1503011.
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most frequent enzymopathy worldwide; it is a genetic disorder that affects red blood cells and causes hemolysis. Here, we conducted a study on G6PD-deficient subjects in Mauritania to evaluate the molecular characteristics associated with a deficiency in this enzyme and the frequency of nucleotide polymorphisms in the glucose-6-phosphate dehydrogenase gene.
A total of 943 blood samples were collected from blood donors (803 males and 140 females; 364 white Moors; 439 black Moors; 112 Pulaar; 18 Wolof; 10 Soninke). All blood samples were analyzed using a rapid screening test. G6PD status was analyzed quantitatively by the Randox G6PD test. Samples deficient in G6PD were extracted from the whole blood samples and subjected to DNA genotyping. The most frequent G6PD variants were determined by two molecular techniques: restriction fragment length polymorphism (RFLP) and multiplex PCR using the GENESPARK G6PD African kit. A total of six single nucleotide polymorphisms (SNPs) (, , , , , and ) were identified.
The prevalence of G6PD deficiency in this population sample was 8.1%. The most common mutation was and was characterized by the G6PD A-phenotype, which is more common in the G6PD-deficient black Moors population. The wilaya in Nouakchott was the most affected among the 13 wilayas studied.
This study shows, for the first time, the presence of the mutation.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是全球最常见的酶病；它是一种影响红细胞并导致溶血的遗传性疾病。在这里，我们对毛里塔尼亚的 G6PD 缺乏症患者进行了一项研究，以评估与该酶缺乏相关的分子特征以及葡萄糖-6-磷酸脱氢酶基因中核苷酸多态性的频率。
从献血者（803 名男性和 140 名女性；364 名白摩尔人；439 名黑摩尔人；112 名普莱勒人；18 名沃洛夫人；10 名索尼克人）中采集了 943 份血液样本。所有血液样本均采用快速筛选试验进行分析。采用 Randox G6PD 试验对 G6PD 状态进行定量分析。从全血样本中提取 G6PD 缺乏样本，并进行 DNA 基因分型。采用两种分子技术确定最常见的 G6PD 变体：限制性片段长度多态性（RFLP）和使用 GENESPARK G6PD 非洲试剂盒的多重 PCR。共鉴定出六个单核苷酸多态性（SNP）（、、、、、和）。
该人群样本中 G6PD 缺乏症的患病率为 8.1%。最常见的突变是 ，其特征是 G6PD A 表型，在 G6PD 缺乏的黑摩尔人群中更为常见。在所研究的 13 个省中，努瓦克肖特的威尔亚受到的影响最大。
这项研究首次表明存在 突变。
