Molecular Analysis of Glucose-6-phosphate dehydrogenase variants in southern Mongoloids

我们对老挝、缅甸、泰国、印度尼西亚和日本的G6PD缺乏症病例进行了分子分析。8例老挝病例均证实感染G6PD viangchan 2。在缅甸和泰国，有15例（11名缅甸人、3名孟族人和1名掸邦人）被发现患有G6PD Mahidol， 1名缅甸人被证实患有G6PD union3。在6名泰国血统的G6PD缺陷受试者中，3名与G6PD Viangchan有关，1名与G6PD Mahidol有关，1名与G6PD Vanua Lava有关。另一个主体为G6PD Union与G6PD canton的复合杂合子。6名菲律宾裔受试者中，5名患有G6PD Viangchan，另外2名分别患有G6PD Coimbra和G6PD Chatham。在印度尼西亚的Halmahera岛和Bulu岛发现了8例G6PD瓦努瓦熔岩病例和1例G6PD科英布拉病例。另外两例来自爪哇岛的印度尼西亚病例证实患有G6PD chatham。在11例中国血统的受试者中，我们发现G6PD开平5例，G6PD广东3例，G6PD高河1例，G6PD玛希多样1例。第11名受试者被发现有一种新的突变1291 G→a，导致一种独特的2类变异G6PD泗水。综上所述，南方蒙古人种根据G6PD突变可分为3个类群：亚洲大陆类群（中国人、老挝人、泰国人和缅甸人）、亚洲岛屿类群（菲律宾人和部分印度尼西亚人）和美拉尼西亚类群（美拉尼西亚人和部分印度尼西亚人）。每一组都可能以典型的G6PD突变为特征：G6PD为广州、开平和玛希隆；G6PD康灿；G6PDs Union和Vanua Lava；分别。

We have performed molecular analyses of G6PD deficiency cases found in Laos, Myanmar, Thailand, Indonesia and Japan.1. All of 8 Laotian cases proved to have G6PD Viangchan.2. In Myanmar and Thailand, 15 cases (11 Burmese, 3 Mon and 1 Shan) were found to have G6PD Mahidol, and one Burmese proved to have G6PD Union.3. Of 6 G6PD-deficient subjects of Thai origin, 3 were associated with G6PD Viangchan, one with G6PD Mahidol and one with G6PD Vanua Lava. The other subject was a compound heterozygote for G6PD Union and G6PD Canton.4. Of 6 subjects of Filipino origin, 5 had G6PD Viangchan, and the other two had G6PD Coimbra and G6PD Chatham, respectively.5. In Halmahera island and Bulu island in Indonesia, we found 8 G6PD Vanua Lava cases and one G6PD Coimbra case. Two other Indonesian cases from Jawa island proved to have G6PD Chatham.6. Of 11 subjects of Chinese origin, we identified G6PD Kaiping in 5 cases, G6PD Canton in 3 cases, G6PD Gaohe in one case and G6PD Mahidol-like in another case. The 11th subject was found to have a novel mutation 1291 G→A causing a unique class-2 variant G6PD Surabaya.In summary, the southern Mongoloids may be classified into three groups in terms of G6PD mutations : Asian continent group (Chinese, Laotians, Thais and Burmese), Asian island group (Filipinos and some Indonesians), and Melanesian group (Melanesians and some Indonesians). Each group may be characterized by the typical G6PD mutations : G6PDs Canton, Kaiping and Mahidol ; G6PD Viangchan ; and G6PDs Union and Vanua Lava ; respectively.