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（G6PD）变异。血样主要采集于疟疾流行地区的疟疾调查点。一些样本是在医院收集的。用Kawamoto和Hirono（1998年）分别为疟疾和G6PD开发的两种快速检测方法，对参与者的血液进行疟疾寄生虫和G6PD活性检测。男性G6PD变异率为5%至7% (Tantular et al. 1999)，这与以前的研究相似。在获得G6PD变异人的知情同意后，我们从0.1 ml的外周血中提取基因组DNA，用PCR扩增编码G6PD的DNA。采用单链构象多态性（SSCP）方法对G6PD的每个外显子进行分析。DNA测序仪读取部分外显子。在46名G6PD变异受试者中检测到9个变异。它们分别是G6PD高河、G6PD瓦努瓦拉瓦、G6PD玛希隆、G6PD科英布拉、G6PD永昌、G6PD查塔姆、G6PD广东和G6PD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，他的祖先是中国。该变异位于cDNA 1291，从G到A （Val→Met）。我们将这个新变种命名为G6PD泗水。

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.