Djigo Oum Kelthoum Mamadou, Ould Ahmedou Salem Mohamed Salem, Diallo Sileye Mamadou, Bollahi Mohamed Abdallahi, Boushab Boushab Mohamed, Garre Aymeric, Papa Mze Nasserdine, Basco Leonardo, Briolant Sébastien, Ould Mohamed Salem Boukhary Ali
Unité de Recherche "Génomes et Milieux" (Jeune Equipe Associée à l'Institut de Recherche pour le Développement), Faculté des Sciences et Techniques, Université de Nouakchott Al-Aasriya, Nouakchott, Mauritania.
Institut National de Recherche en Santé Publique (INRSP), Nouakchott, Mauritania.
Pathogens. 2021 Jul 23;10(8):931. doi: 10.3390/pathogens10080931.
malaria is endemic in Mauritania. Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop acute hemolytic anemia when exposed to 8-aminoquinoline antimalarial drugs, which are indispensable for a complete cure. The prevalence of allelic variants was assessed in different ethno-linguistic groups present in Mauritania. A total of 996 blood samples (447 males and 549 females; 499 white Moors and 497 individuals of black African ancestry) were collected from febrile patients in 6 different study sites: Aleg, Atar, Kiffa, Kobeni, Nouakchott, and Rosso. The presence of the African-type A- (G202A, A376G, A542T, G680T, and T968C mutations) and the Mediterranean-type B- (C563T) variants was assessed by PCR followed by restriction fragment length polymorphism and/or DNA sequencing. The prevalence of African-type A- genotype was 3.6% (36/996), with 6.3% (28/447) of hemizygote (A-) males and 1.5% (8/549) of homozygous (A-A-) females. Forty of 549 (7.3%) women were heterozygous (AA-). The following genotypes were observed among hemizygous men and/or homozygous women: A376G/G202A (22/996; 2.2%), A376G/T968C Betica-Selma (12/996; 1.2%), and A376G/A542T Santamaria (2/996; 0.2%). The Mediterranean-type B- genotype was not observed. The prevalence rates of A- genotype in male (10/243; 4.1%) and heterozygous female (6/256; 2.3%) white Moors were lower ( < 0.05) than those of males (18/204; 8.8%) and heterozygous females (34/293; 11.6%) of black African ancestry. There were only a few homozygous women among both white Moors (3/256; 1.2%) and those of black African ancestry (5/293; 1.7%). The prevalence of G6PD deficiency in Mauritania was comparable to that of neighboring countries in the Maghreb. Because of the purportedly close ethnic ties between the Mauritanian white Moors and the peoples in the Maghreb, further investigations on the possible existence of the Mediterranean-type allele are required. Moreover, a surveillance system of G6PD phenotype and/or genotype screening is warranted to establish and monitor a population-based prevalence of G6PD deficiency.
疟疾在毛里塔尼亚呈地方性流行。葡萄糖-6-磷酸脱氢酶（G6PD）缺乏的个体在接触8-氨基喹啉抗疟药物时可能会发生急性溶血性贫血，而这些药物对于彻底治愈疟疾是必不可少的。对毛里塔尼亚不同民族语言群体中等位基因变异的流行情况进行了评估。从6个不同研究地点（阿莱格、阿塔尔、基法、科贝尼、努瓦克肖特和罗索）的发热患者中总共采集了996份血样（447名男性和549名女性；499名白摩尔人和497名非洲黑人后裔）。通过聚合酶链反应（PCR），随后进行限制性片段长度多态性分析和/或DNA测序，评估非洲型A-（G202A、A376G、A542T、G680T和T968C突变）和地中海型B-（C563T）变异的存在情况。非洲型A-基因型的流行率为3.6%（36/996），其中半合子（A-）男性为6.3%（28/447），纯合子（A-A-）女性为1.5%（8/549）。549名女性中有40名（7.3%）为杂合子（AA-）。在半合子男性和/或纯合子女性中观察到以下基因型：A376G/G202A（22/996；2.2%）、A376G/T968C贝蒂卡-塞尔玛型（12/996；1.2%）和A376G/A542T圣玛丽亚型（2/996；0.2%）。未观察到地中海型B-基因型。白摩尔男性（10/243；4.1%）和杂合子女性（6/256；2.3%）中A-基因型的流行率低于非洲黑人后裔男性（18/204；8.8%）和杂合子女性（34/293；11.6%）（<0.05）。白摩尔人（3/256；1.2%）和非洲黑人后裔（5/293；1.7%）中纯合子女性都很少。毛里塔尼亚G6PD缺乏的流行率与马格里布邻国相当。由于毛里塔尼亚白摩尔人与马格里布各民族之间据称有密切的种族联系，因此需要进一步调查地中海型等位基因可能的存在情况。此外，有必要建立一个G6PD表型和/或基因型筛查监测系统，以确定和监测基于人群的G6PD缺乏流行率。
