el-Hazmi M A, Warsy A S, Bahakim H H, al-Swailem A
Medical Biochemistry Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
J Trop Pediatr. 1994 Feb;40(1):12-6. doi: 10.1093/tropej/40.1.12.
This study was conducted on 689 Saudi males and females living in the Makkah area in the western province of Saudi Arabia. The frequency of severe glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in the male and female populations was 0.055 and 0.042 respectively. The normal G-6-PD was G-6-PD-B+ and the G-6-PD phenotypes identified included G-6-PD-A+, G-6-PD-A-, G-6-PD-Mediterranean, and G-6-PD-Mediterranean-like at gene frequencies of 0.0288, 0.0026, 0.05497, and 0.1969 in the male population and 0.026, 0.0146, 0.0407, and 0.02606 in the female population. The main variants producing severe and mild G-6-PD deficiency were G-6-PD-Mediterranean and G-6-PD-Mediterranean-like, respectively. The sickle cell gene was identified at a frequency of 0.029 and no interaction between sickle cell and G-6-PD deficiency genes was encountered.
本研究对居住在沙特阿拉伯西部省份麦加地区的689名沙特男性和女性进行。男性和女性人群中严重葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症的发生率分别为0.055和0.042。正常的G-6-PD是G-6-PD-B+，鉴定出的G-6-PD表型包括G-6-PD-A+、G-6-PD-A-、G-6-PD-地中海型和G-6-PD-类地中海型，在男性人群中的基因频率分别为0.0288、0.0026、0.05497和0.1969，在女性人群中的基因频率分别为0.026、0.0146、0.0407和0.02606。导致严重和轻度G-6-PD缺乏症的主要变异型分别是G-6-PD-地中海型和G-6-PD-类地中海型。镰状细胞基因的鉴定频率为0.029，未发现镰状细胞与G-6-PD缺乏症基因之间存在相互作用。
