MOLECULAR ANALYSIS OF G6PD VARIANTS IN ASIA

在尼泊尔，我们测试了300名男性的G6PD活性。G6PD缺乏2例（0.67%）。在征得调查同意后，我们从他们身上采集了2ml外周血。我们从血液中提取基因组DNA并读取编码G6PD分子的DNA序列。两人均为同一变异型，G6PD地中海型，其563号核苷酸处C替换为T。氨基酸可能使Scr在第188位变为Phc。这些人也有一个C到T在第1311位的核苷酸的替代，这不会导致氨基酸的替代。去年，我们在一个马来西亚印度人身上发现了G6PD地中海。其G6PD分子基因组DNA第563位核苷酸由C变为T。而第1311位核苷酸为C，与野生型相同。马来西亚的G6PD地中海是原始的印度类型。在尼泊尔发现的G6PD地中海型是中东国家和地中海国家报告的类型。这些结果表明，尼泊尔人的起源更接近于中东国家的人，而不是印度人。(190字）

In Nepal, we tested three hundred males for G6PD activity. Two persons were G6PD deficient (0.67 %). After getting an agreement of the investigation, we took 2ml of peripheral blood from them. We extracted genomic DNA from the blood and read sequence of DNA encoding G6PD molecule. Both persons were the same variant, G6PD Mediterranean, which had a replacement of C to T at No.563 of nuclcotide. Amino acid might change Scr to Phc at No.188 of amino-acid. These persons also had a replacement of C to T at No.1311 of nucleotide, which caused no replacement of amino acid. Last year, we found G6PD Mediterranean in a man of Malaysian Indian. His genomic DNA of G6PD molecule showed a replacement of C to T at No.563 nucleotide. However nucleotide No.1311 was C, which was as same as the wild type. This G6PD Mediterranean in Malaysia was original Indian type. G6PD Mediterranean found in Nepal was the type which was reported in Middle East countries and Mediterranean countries. These results indicate that the origin of Nepalese people is closer to people in Middle East countries than people in India. (190 words)