少数民族葡萄糖-6-磷酸脱氢酶基因突变检测

目的 了解贵州省少数民族葡萄糖-6-磷酸脱氢酶(Glucose-6-phosphato dehydrogenase。G6PD)缺乏症的发生率、基因突变类型特点及分布特征。方法 对贵州省苗族、水族、瑶族2566人采用四氮唑蓝定性法初筛、G6PD／6PGD比值法验证，再经错配引物介导的聚合酶链反应／限制性酶切分析法检测中国人常见的基因突变型。结果 检出G6PD缺乏症175例，其中苗族检出G1388A突变7例、G1376T突变1例、A95G突变6例、C1024T突变8例；水族检出G1388A突变12例、G1376T突变24例、A95G突变9例、C1024T突变2例；瑶族检出G1388A突变15例、G1376T突变7例。结论 贵州省是G6PD缺乏症的高发区，贵州省苗族、水族、瑶族中都存在G1388A、G1376T这两种中国人常见G6PD突变型。为了解贵州省少数民族G6PD缺乏症的分布特征提供了原始数据。

Study on common mutations of G6PD gene in Miao、Shui and Yao ethnic groups

Objective A large-scale screening and genotype analysis was held in Miao,Shui and Yao nationalities in Guizhou,to investigate the incidence and molecular characterization of G6PD deficiency of the minorities in Guizhou.Methods 2?566 subjects were selected randomly,NBT qualitative and G6PD/6P6D quentitative methods were used to detect G6PD deffciency in them.Results 175 G6PD deficiency samples were found.In Miao nationality 7 cases of G1388A,1 case of G1376T,6 cases of A95G,8 cases of C1024T were detected;In Shui nationality 12 cases of G1388A,24 cases of G1376T,9 cases of A95G and 2 cases of C1024T were detected;In Yao nationality 15 cases of G1388A,7 cases of G1376T were detected.Conclusion G6PD G1388A,G1376T mutations were detected in Miao,Shui and Yao nationalities.The study of G6PB gene mutations in Guizhou minorities may provided primary useful data for understanding the distribution of G6PD deficiency in Guizhou.