Molecular analysis of G6PD variants in Southeast Asia

我们调查了东南亚国家（印度尼西亚，马来西亚，老挝和缅甸）的葡萄糖-6-磷酸脱氢酶（G6 PD）变体。主要在疟疾流行区的疟疾调查点采集血样。一些样本是在医院采集的。用两种快速检测法检查了受试者的血液中的疟原虫和G6 PD活性，这两种快速检测法分别由Kawamoto开发用于疟疾和Hirono（1998）开发用于G6 PD。男性G6 PD变异率为5%~ 7%（Tantular et al.1999），与以往的研究结果相似，在征得G6 PD变异者的知情同意后，我们从0.1ml外周血中提取基因组DNA，通过PCR扩增编码G6 PD的DNA。采用单链构象多态性（SSCP）方法分析G6 PD各外显子。部分外显子用DNA测序仪读取。在46名G6 PD变异受试者中检测到9种变异。它们分别是G6 PD高河、G6 PD瓦努阿拉瓦、G6 PD玛希多、G6 PD科英布拉、G6 PD维昂占、G6 PD查塔姆、G6 PD广州和G6 PD开平。在印度尼西亚泗水的一名18岁男子身上发现了一种高贵的变异体，他有中国祖先。该变异体位于cDNA 1291处，由G变为A（瓦尔→Met）。我们将这种新变体命名为G6 PD Surabaya。

We investigated glucose-6-phosphate dehydrogenase (G6PD) variants in Southeast Asian countries (Indonesia, Malaysia, Laos and Myanmer). Blood samples were mainly collected on malaria survey sites in the malaria endemic area. Some samples were collected in hospitals. Blood of participants was examined for malaria parasites and G6PD activity with two rapid tests, which were developed by Kawamoto for malaria and by Hirono (1998) for G6PD. Rates of G6PD variants in male were 5 to 7 % (Tantular et al. 1999), which were similar rates with previous studies.After taking informed consent from people of G6PD variant, we extracted genomic DNA from 0.1 ml of peripheral blood and amplified DNA coding G6PD by PCR. Each exon of G6PD was analyzed with single strand conformation polymorphism (SSCP) method. Some exons were read by DNA sequencer. Nine variants were detected among forty-six G6PD variant subjects. They were G6PD Gaohe, G6PD Vanua Lava, G6PD Mahidol, G6PD Coimbra, G6PD Viangchan, G6PD Chatham, G6PD Canton and G6PD Kaiping, respectively. A noble variant was found from a 1 8 year-old man in Surabaya, Indonesia, who had Chinese ancestor. The variant was at cDNA 1291 from G to A (Val→Met). We named this new variant as G6PD Surabaya.