el-Hazmi M A, Warsy A S
Department of Medical Biochemistry College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Trop Geogr Med. 1991 Jan-Apr;43(1-2):174-9.
This study was conducted on 823 male and female subjects to determine the frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and sickle cell gene in Al-Qunfuda, a densely populated and malaria endemic region in western Saudi Arabia. The results show the presence of both sickle cell and G-6-PD deficiency genes in this population. The prevalence of Hb S heterozygotes in the total population was 18.93% and that of homozygotes was 2.02%. The gene frequency of sickle cell gene was 0.121. G-6-PD-B+ was the normal enzyme and occurred at a frequency of 83.60% and 78.46% in the male and female population, respectively. G-6-PD variants identified included G-6-PD Mediterranean, G-6-PD-A+, G-6-PD-A- and G-6-PD-Mediterranean-like. The frequency of each variant in the male and female population was 10.65% and 9.74% for G-6-PD-Mediterranean, 2.30% and 1.53% for G-6-PD-A+, 0.46% and 0.51% for G-6-PD-A- and 3.0% and 9.74% for the G-6-PD-Mediterranean-like variants, respectively. No significant interaction between sickle cell and G-6-PD genes could be demonstrated.
本研究对823名男性和女性受试者进行，以确定沙特阿拉伯西部人口密集且疟疾流行的Al-Qunfuda地区葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症和镰状细胞基因的频率。结果显示该人群中同时存在镰状细胞和G-6-PD缺乏症基因。Hb S杂合子在总人口中的患病率为18.93%，纯合子为2.02%。镰状细胞基因的基因频率为0.121。G-6-PD-B+是正常酶，在男性和女性人群中的出现频率分别为83.60%和78.46%。鉴定出的G-6-PD变体包括G-6-PD地中海型、G-6-PD-A+、G-6-PD-A-和G-6-PD地中海样型。G-6-PD地中海型在男性和女性人群中的频率分别为10.65%和9.74%，G-6-PD-A+分别为2.30%和1.53%，G-6-PD-A-分别为0.46%和0.51%，G-6-PD地中海样型变体分别为3.0%和9.74%。未发现镰状细胞和G-6-PD基因之间存在显著相互作用。
