Mgone C S, Koki G, Paniu M M, Kono J, Bhatia K K, Genton B, Alexander N D, Alpers M P
Papua New Guinea Institute of Medical Research.
Trans R Soc Trop Med Hyg. 1996 May-Jun;90(3):228-31. doi: 10.1016/s0035-9203(96)90223-0.
South-east Asian ovalocytosis status was determined in 1629 individuals originating from 12 different geographical areas of Papua New Guinea, representing different ethnic groups and degrees of malaria endemicity. This was achieved by using polymerase chain reaction amplification to demonstrate a 27 base pair deletion in the erythrocyte band 3 (AE1) gene. By using this method, the prevalence of erythrocyte band 3 gene deletion was determined to range from zero in both the lowland inland area of Wosera, East Sepik Province and the highland region of Goroka, Eastern Highlands Province to 35% on the north coast of Madang Province. In general, the prevalence correlated well with altitude, being highest on the coast where malaria transmission is high, intermediate in the lowlands, and lowest in the non-malarious highlands. However, Wosera, a lowland area in the Sepik River Plains, which is hyperendemic for malaria, was an exception in that no ovalocytosis was detected. These results largely confirm the prevalence rates that have been reported in the past using microscopy. In keeping with the autosomal dominant mode of inheritance, the male:female ratio was 1.02 and no homozygote was detected, indicating that homozygosity for the ovalocytosis band 3 gene deletion is lethal.
对来自巴布亚新几内亚12个不同地理区域的1629人进行了东南亚椭圆形红细胞增多症状况的测定,这些区域代表了不同的种族群体和疟疾流行程度。这是通过聚合酶链反应扩增来实现的,以证明红细胞带3(AE1)基因存在27个碱基对的缺失。通过使用这种方法,确定红细胞带3基因缺失的患病率范围从东塞皮克省沃塞拉的低地内陆地区和东部高地省戈罗卡的高地地区的零患病率,到马当省北海岸的35%。总体而言,患病率与海拔高度密切相关,在疟疾传播率高的沿海地区最高,在低地地区居中,在无疟疾的高地地区最低。然而,塞皮克河平原的低地地区沃塞拉是疟疾高度流行区,却是一个例外,因为未检测到椭圆形红细胞增多症。这些结果在很大程度上证实了过去使用显微镜检查所报告的患病率。与常染色体显性遗传模式一致,男性与女性的比例为1.02,未检测到纯合子,这表明椭圆形红细胞增多症带3基因缺失的纯合性是致命的。