Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand
Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand
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DOI：
10.1007/s10038-006-0380-y
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发表时间：
2006-01-01
影响因子：
3.5
通讯作者：
Ishida, Takafumi
中科院分区：
文献类型：
--
作者：
Ninokata, Aya;Kimura, Ryosuke;Ishida, Takafumi
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是人类最常见的酶病。研究了泰国南部普吉岛居民G6PD缺乏症的患病率及其分子基础。本研究共招募了345名志愿者（123名男性，222名女性）。采用聚合酶链反应（PCR）诊断方法未检出恶性疟原虫或间日疟原虫感染。g6pd缺失个体采用wst -8/1-甲氧基PMS法进行鉴定。通过pcr -直接测序或pcr -限制性内切酶片段长度多态性分析研究G6PD缺乏症的分子基础。G6PD重度缺乏症14例，轻度缺乏症21例。Moken（15.4%）和Thai（15.5%）族裔背景的受试者中G6PD缺乏症的患病率较高。鉴定出G6PD Mahidol (487G > A) （n= 14）、G6PD Viangchan (871 G > A) （n= 11）、G6PD高河（95A > G） （n= 2）、G6PD开平（1388G > A） （n=1）和G6PD Kerala-Kalyan (949G > A) （n=1）。结果表明，亚洲大陆的几个族群，如缅甸人、老挝人或柬埔寨人、泰国人和中国人，参与了普吉岛目前族群的族群认同的建立。
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 (871 G > 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.