Ninokata Aya, Kimura Ryosuke, Samakkarn Urai, Settheetham-Ishida Wannapa, Ishida Takafumi
Department of Biological Sciences, Unit of Human Genetics, Graduate School of Science, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
Department of Human Genetics, School of International Health, Graduate School of Medical Sciences, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
J Hum Genet. 2006;51(5):424-428. doi: 10.1007/s10038-006-0380-y. Epub 2006 Mar 10.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in humans. The prevalence of G6PD deficiency and its molecular basis were studied in Phuket islanders, Southern Thailand. A total of 345 volunteers (123 males and 222 females) were recruited in this study. Infection with Plasmodium falciparum or Plasmodium vivax was not detected in any of these subjects by polymerase chain reaction (PCR)-based diagnosis. G6PD-deficient individuals were identified with the WST-8/1-methoxy PMS method. The molecular basis of G6PD deficiency was investigated by PCR-direct sequencing procedures or PCR-restriction enzyme fragment length polymorphism assays. The numbers of individuals showing severe and mild G6PD deficiency were 14 and 21, respectively. A high prevalence of G6PD deficiency was observed in subjects with Moken (15.4%) or Thai (15.5%) ethnic background. G6PD Mahidol (487G>A) (n=14), G6PD Viangchan (871G>A) (n=11), G6PD Gaohe (95A>G) (n=2), G6PD Kaiping (1388G>A) (n=1), and G6PD Kerala-Kalyan (949G>A) (n=1) were identified. The results suggest that several groups of people of the Asian Continent, such as Burmese, Laotian or Cambodian, Thai and Chinese, participated in the establishment of the ethnic identity of the current ethnic groups of Phuket Island.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是人类最常见的酶病。对泰国南部普吉岛居民的G6PD缺乏症患病率及其分子基础进行了研究。本研究共招募了345名志愿者（123名男性和222名女性）。通过基于聚合酶链反应（PCR）的诊断，在这些受试者中均未检测到恶性疟原虫或间日疟原虫感染。采用WST-8/1-甲氧基吩嗪硫酸甲酯法鉴定G6PD缺乏个体。通过PCR直接测序程序或PCR限制性酶切片段长度多态性分析研究G6PD缺乏症的分子基础。表现为严重和轻度G6PD缺乏的个体数量分别为14例和21例。在莫肯族（15.4%）或泰族（15.5%）背景的受试者中观察到G6PD缺乏症的高患病率。鉴定出了G6PD Mahidol（487G>A）（n = 14）、G6PD Viangchan（871G>A）（n = 11）、G6PD Gaohe（95A>G）（n = 2）、G6PD Kaiping（1388G>A）（n = 1）和G6PD Kerala-Kalyan（949G>A）（n = 1）。结果表明，亚洲大陆的几类人群，如缅甸人、老挝人或柬埔寨人、泰国人和中国人，参与了普吉岛当前族群的族群身份形成。
