国人常见的两种葡萄糖-6-磷酸脱氢酶基因突变及其临床表现

The two common G6PD gene mutations in Chinese and their clinical manifestations

目的 探讨中国人中两种常见葡萄糖6磷酸脱氢酶(G6PD) 基因突变与临床表现的关系。方法 应用突变扩增系统(ARMS) 法,研究15 例云南籍汉族G6PD 缺乏症患儿两种常见G6PD基因突变,并对其临床表现进行分析。结果 15 例中检出cDNAG1388A突变9 例,cDNAG1376T突变5例,未定型1 例。所有患者都具有急性溶血性贫血,黄疸等临床表现及不同程度的血红蛋白尿、G6PD酶活性降低。

Objective To investigate the relationship between the two common glucose 6 phosphate dehydrogenase (G6PD) gene mutations in Chinese and their clinical manifestations. Methods Using amplification refractory mutation system (ARMS) the authors detected the two common G6PD gene mutations in 15 children of Han nationality from Yunnan province, and analyzed their clinical manifestations. Results Nine out of 15 cases were found to have G1388A mutation, 5 cases had G1376T mutation, and 1 was undefined. All these cases had acute hemolytic anemia, jaundice,hemoglobinuria and reduced G6PD activity to different extents. Conclusion Patients with these mutations have the same clinical manifestations.