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

我们对老挝、缅甸、泰国、印度尼西亚和日本发现的G6PD缺乏症病例进行了分子分析。结果：1.所有8例老挝患者均确诊为G6PD越南人。在缅甸和泰国，15例(11例缅甸人，3例孟族和1例掸族)被发现患有G6PD Mahidol，1例缅甸人被证实患有G6PD Union。在来自泰国的6名G6PD缺陷者中，3名与G6PD Viangchan有关，1名与G6PD Mahidol有关，1名与G6PD Vanua Lava有关。另一例为G6PD Union和G6PD广州的复合杂合子。在6名来自菲律宾的受试者中，5名患有G6PD Viangchan，另外两名分别患有G6PD Coimbra和G6PD Chatham。在印度尼西亚的哈尔马赫拉岛和布卢岛，我们发现了8例G6PD Vanua Lava病例和1例G6PD Coimbra病例。来自加瓦岛的另外两例印度尼西亚病例被证明患有G6PD Chatham。在11例中国人中，G6PD开平5例，G6PD广州3例，G6PD高和1例，G6PD Mahidol样1例。第11个受试者被发现有一个新的突变1291G→A，导致了一个独特的2类G6PD苏拉巴突变。综上所述，南方蒙古人可以根据G6PD突变分为三组：亚洲大陆组(中国人、老挝人、泰国人和缅甸人)、亚洲岛组(菲律宾人和一些印度尼西亚人)和美拉尼西亚人组(美拉尼西亚人和一些印度尼西亚人)。每一组可能分别具有典型的G6PD突变：G6PDs广州、开平和Mahidol；G6PD Viangchan；G6PDs Union和Vanua Lava；

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.