【摘要】 目的　了解海南汉族、黎族人群 G6 PD缺乏症患者的 G6 PD基因 1376 G→T突变。方法　用盐提取法提取 G6 PD缺乏症患者白细胞的 DNA,用等位基因特异聚合酶链反应检测 1376 G→ T突变。结果在分析的 5 9例汉族患者和 32例黎族患者中 ,19例汉族患者和 18例黎族患者有 G6 PD基因 1376 G→ T突变 ,该突变在汉族、黎族患者中所占的比例分别为 32 .2 %和 5 6 .2 %。结论　 G6 PD基因 1376 G→T是引起海南黎族、汉族人 G6 PD缺乏症的主要突变之一 ;根据中国不同民族的聚类分析图 ,该结果提示 1376 G→ T突变可能在黎族人形成之前已经出现。研究不同民族的 G6 PD基因突变 ,对于阐明各民族的起源、迁移、进化等具有重要的意义更多还原

【Abstract】 Objective To investigate the 1376G→T mutation of G6PD gene in the cases of G6PD deficiency in the Han nationality and the Li nationality of Hainan, China. Methods DNAs were extracted from the white blood cells of G6PD deficient cases by salt out method. Allelic specific polymerase chain reaction was used to detect the 1376G→T mutation. Results Fifty nine Han nationality cases and 32 Li nationality cases were analysed; the 1376G→T mutation was found in 19 Han cases(32.2%) and 18 Li cases(56.2%).Conclusion 1376G→T is a common mutation which causes G6PD deficiency in the Han nationality and the Li nationality in Hainan, China. Based on the phylogenetic tree of populations in China, these results indicate that the mutation might occur prior to the divergence of the Han and Li nationalities. It is of significance to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.更多还原