贵州省荔波县瑶族葡萄糖-6-磷酸脱氢酶缺陷症基因突变研究

Study the mutations of glucose-6-phosphate dehydrogenase gene in Yao ethnic group in Guizhou Libo

目的了解贵州省荔波县瑶族葡萄糖-6-磷酸脱氢酶(G6PD)缺陷症的发生率、基因突变类型及特点。方法对贵州省荔波县瑶族586人采用四氮唑蓝定性法进行G6PD缺陷症初筛、G6PD／6PGD比值法验证,再经自然引物及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9种基因突变型。结果筛出G6PD缺陷阳性样本45例,基因频率为7．68％,其中检出G1388A突变15例、G1376T突变7例。结论贵州省荔波县瑶族是G6PD缺陷症的高发区,该地该民族常见突变型是中国人常见的G1376T、G1388A突变型。本调查为了解贵州省少数民族G6PD缺陷症的分布特征提供了原始数据。

Objective To investigate the incidence and molecular characterization of glucose-6-phosphate dehydrogenase （G6PD） deficiency through large-scale screening and genotype analysis in Yao ethnic group in Libo, Guizhou. Methods 586 individuals were randomly screened for glucose-6-phosphate dehydrogenase （G6PD） deficiency using nitroblue tetrozolium method, and then testified by G6PD/6PGD quantitative methods. 9 mutations of glucose-6-phosphate dehydrogenase gene frequently seen in Chinese were detected using natural primers and mismatched primers mediated polymerase chain reaction/restriction analysis methods. Results 45 G6PD deficiency samples were found to have a gene frequency of 7.68%, among whom 15 cases had G1388A mutation, 7 cases G1376T gene mutation. Conclusions Yao ethnic group in Guizhou Libo has a high G6PD frequency with mutations at locus 1376, 1388 which are frequently seen in China. The study of G6PD gene mutations in Guizhou Yao may provide primary useful data of the distribution of G6PD deficiency in Guizhou.