贵州土家族葡萄糖-6-磷酸脱氢酶基因突变型

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/IVS11+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。

Identification of glucose-6-phosphate dehydrogenase gene variants from Tujia Nationality,Guizhou province

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 province.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 G6PD 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 policy decisions for G6PD deficiency prevention and treatment in these areas.