中文摘要：

目的 研究贵州土家族葡萄糖-6-磷酸脱氢酶（G6PD）基因致病突变型,检测G6PD缺乏症发生率及基因频率.方法 通过硝基四氮唑蓝纸片法对2 789例土家族男性进行G6PD缺乏症定性筛查,用变性高效液相色谱技术和DNA测序对78例个体进行基因突变型鉴定.结果 在2 789例纯系土家族男性中,发现2例酶活性异常.在印江县采集的78例（2例酶活性异常和76例正常）纯系土家族男性血样中,共检出G6PD c.1388G〉A突变2例、c.1376G〉T突变1例和c.1311C〉T/IVS 11＋93T〉C突变2例,基因突变型分别占2.6%、1.3%和2.6%.结论 在贵州土家族人群中发现c.1388G〉A、c.1376G〉T和c.1311C〉T/IVS 11＋93T〉C 3种突变型,是共同存在于中国人群的G6PD基因突变型,中华民族可能源于共同的祖先;贵州省印江县土家族男性G6PD缺乏症的基因频率为6.5%,可为上述地区G6PD缺乏症的防治提供依据.

英文摘要：

Objective To identify the diseases-caused mutation of glucose-6-phosphate dehydrogenase （G6PD） gene, and investigate the incidence and gene frequency of G6PD deficiency in Tujia Nationality from Guizhou prov- ince. Methods G6PD deficiency in 2 789 Tujia Nationality were screened by nitrblue tetrazolium （NBT） paper strip, 78 cases were identified by denaturing high-performance liquid chromatography （DHPLC） technique and DNA sequencing. Results Among 2 789 Tujia Nationality, 2 cases were found to be G6PD deficient. Among 78 pure male samples（2 abnormal cases and 76 normal cases） in Tujia Nationality from Yinjiang county, 2 cases were identified as c. 1388G 〉 A, 1 case as c. 1376G 〉 T and 2 cases as c. 1311C 〉 T/IVS 11 ＋93T 〉 C, and the gene frequencies were 2. 6%, 1.3% and 2. 6% respectively. Conclusion C,6PD c. 1388G 〉 A, c. 1376G 〉 T and c. 1311C 〉 T/IVS11 ＋ 93T 〉 C are found in Tujia Nationality of Guizhou province, c. 1388G 〉 A and c. 1311C 〉 T/ IVS11 ＋ 93T 〉 C are the main mutations in Tujia Nationality from Yinjiang county of Guizhou province ; The three mutations are the common mutations in Chinese population, which suggest that Chinese people originated from the same ancestor; The gene frequency of G6PD of males in Guizhou Tujia Nationality is 6. 5 % , which provide the poli- cy decisions for G6PD deficiency prevention and treatment in these areas.