【摘要】 目的分析广州地区G6PD缺乏症合并地中海贫血的G6PD活性和基因突变类型。方法采用酶速率法检测G6PD活性,PCR技术和反向斑点杂交技术进行G6PD基因和地中海贫血基因检测。结果 1G6PD缺乏症的检出率为3.05%,男、女性别比例为2.06∶1。2G6PD缺乏症中,活性0~100(U/L)的男性明显多于女性,601~1299(U/L)的女性明显多于男性,各组间比较差别有显著统计意义(P<0.01);3不管是否合并地贫,男性G6PD缺乏症患者比女性患者的G6PD活性明显降低,差别有显著统计意义(P<0.01);4 G6PD缺乏症前三位的基因突变类型分别是G1376T(36.11%)、G1388A(22.22%)、A95G(13.89%)。结论 G6PD缺乏症合并地贫时,G6PD活性受到一定的影响,特别是女性杂合子,此时需要进行家系分析或者基因检测确诊,以防漏检。更多还原

【Abstract】 Objective:To analyse G6 PD activity and gene mutation of G6 PD deficiency with thalassemia in adults in Guangzhou.Methods:G6PD activity was detected by enzyme rate method;G6PD gene and thalassemia gene mutation were detected by PCR technology and reverse dot blot hybridization technique. Results:1G6PD deficiency rate was 3.05%,ratio of male and female was 2.06:1.2The sum of male was more than female in the G6 PD activity between 0 and 100(U/L);In contrast,the sum of female was more than male in the G6 PD activity between 601 and 1299(U/L)3whether the merger of thalassemia,G6 PD activity of male G6 PD deficiency patients decreased significantly than women patients,it had statistically significant difference(P < 0.01));4 The first three mutation types of G6 PD deficiency were G1376T(35%),G1388A(25%),A95G(15%). Conclusions:G6PD activity of G6 PD deficiency with thalassemia is affected,especially for female heterozygote,it is necessary to prevent missed diagnosis by way of genes detection and families analysis更多还原