【摘要】 目的了解贵州省从江县侗族葡萄糖-6-磷酸脱氢酶(Glucose-6-phosphate dehydrogenase,G6PD) 缺乏症的发生率、基因突变类型及特点。方法对贵州省从江县侗族524人采用四氮唑蓝定性法进行G6PD缺乏症初筛、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,对于未定型采用变性梯度凝胶电泳法(DGGE)检查外显子2、8、9、12基因突变情况。结果 G6PD缺乏症34例,检出率为6．49％,其中检出G1388A突变4例、C592T突变18例。未定型12例经DGGE检测外显子突变情况,未发现突变,有待于进一步对其余外显子进行研究。结论贵州省从江侗族是G6PD缺乏症的高发区。592 C→T突变型为该地该民族常见突变型,而不是中国人常见的G1376T、G1388A或A95G突变型。此次基因突变型调查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。更多还原

【Abstract】 Objective To investigate the incidence and molecular characterization of G6PD deficiency of this minority via a large-scale screening and genotype analysis in Dong ethnic group in Congjiang, Guizhou. Methods 524 individuals were randomly selected into the study to undergo NBT qualitative and G6PD/6PGD quantitative methods in order to detect G6PD deficiency. Natural primers and mis-matched primers mediated polymerase chain reaction/restriction analysis methods were used to detect the 9 gene mutations that were frequently seen in China. Mutations at exons 2, 8, 9 and 12 of 12 undefined samples were measured by DGGE method. Results 34 G6PD deficiency cases were found, with a prevalence of 6.49%, among whom 4 cases of G1388A and 18 cases of G592T gene mutations were detected. 12 undefined cases were measured by DGGE method and no mutation was found at the exons mention-above. Conclusions A high G6PD frequency is found in Dong ethnic group in Guizhou Congjiang. C592T mutation, rather than 1376 or 1388 or 95 mutations which are commonly seen in China, is a common mutation in this ethnic. The study of G6PD gene mutations in Guizhou Dong may provide primarily useful data for understanding the distribution of G6PD deficiency in Guizhou.更多还原