Nuchprayoon I, Sanpavat S, Nuchprayoon S
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Hum Mutat. 2002 Feb;19(2):185. doi: 10.1002/humu.9010.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans. Through a population study for G6PD deficiency using a cord blood quantitative G6PD assay in Bangkok, Thailand, we found that the prevalence of G6PD deficiency is 11.1% in Thai male (N=350) and 5.8% in female (N=172) cord blood samples. Among the neonates with hyperbilirubinemia, the prevalence of G6PD deficiency is 22.1% in males (N=140) and 10.1% in females (N=89). We developed a PCR-restriction enzyme-based method to identify G6PD Viangchan (871G>A), and searched for this and 9 other mutations in DNA from G6PD deficient blood samples. G6PD Viangchan (871G>A) was the most common mutation identified (54%), followed by G6PD Canton (1376G>T; 10%), G6PD Mahidol (487G>A; 8%), G6PD Kaiping (1388G>A; 5%), G6PD Union (1360C>T; 2.6%) and "Chinese-5" (1024C>T; 2.6%). Among 20 neonates with hyperbilirubinemia, G6PD Viangchan was also most frequently identified (60%), followed by G6PD Canton (10%), G6PD Mahidol, G6PD Union, and G6PD Kaiping (5% each). G6PD Viangchan appears from this study to be the most common G6PD mutation in the Thai population, bringing into question previous reports that G6PD Mahidol is most prevalent. G6PD Viangchan, together with G6PD Mahidol and G6PD Canton, are responsible for over 70% of G6PD deficiency in this study of Thais. With the data from other Southeast Asian ethnic groups such as Laotians, G6PD Viangchan (871G>A) is probably the most common variant in non-Chinese Southeast Asian population.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是人类最常见的遗传性疾病。通过在泰国曼谷进行的一项利用脐血定量G6PD检测法对G6PD缺乏症的人群研究,我们发现泰国男性(N = 350)脐血样本中G6PD缺乏症的患病率为11.1%,女性(N = 172)为5.8%。在患有高胆红素血症的新生儿中,男性(N = 140)G6PD缺乏症的患病率为22.1%,女性(N = 89)为10.1%。我们开发了一种基于聚合酶链反应-限制性酶切的方法来鉴定G6PD万象型(871G>A),并在G6PD缺乏症血样的DNA中寻找这种突变以及其他9种突变。G6PD万象型(871G>A)是鉴定出的最常见突变(54%),其次是G6PD广州型(1376G>T;10%)、G6PD马希多尔型(487G>A;8%)、G6PD开平型(1388G>A;5%)、G6PD联合型(1360C>T;2.6%)和“中国-5”型(1024C>T;2.6%)。在20例患有高胆红素血症的新生儿中,G6PD万象型也是最常被鉴定出的(60%),其次是G6PD广州型(10%)、G6PD马希多尔型、G6PD联合型和G6PD开平型(各占5%)。从这项研究来看,G6PD万象型似乎是泰国人群中最常见的G6PD突变,这对之前关于G6PD马希多尔型最为普遍的报道提出了质疑。在这项泰国人的研究中,G6PD万象型与G6PD马希多尔型和G6PD广州型一起,导致了超过70%的G6PD缺乏症。结合来自老挝等其他东南亚民族的数据,G6PD万象型(871G>A)可能是非华裔东南亚人群中最常见的变异型。