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目的研究潮州地区糖尿病与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的相关性。方法在全自动生化分析仪上应用速率法定量检测潮州地区1166例糖尿病患者的G6PD活性,应用膜反向斑点杂交法检测常见的6个G6PD基因突变位点,应用DNA测序技术分析未知突变样本。另取潮州地区4221例健康体检者作为研究对象,记录G6PD缺乏症发生情况。结果在1166例糖尿病患者中检出G6PD缺乏症41例,男15例,女26例。G6PD缺乏症在潮州地区糖尿病人群的发生率为3.52%,其中男性发生率为2.53%,女性发生率为4.53%。在41例G6PD缺乏症患者中检出9种基因突变的类型,分别是c.1376G>T、c.1388G>A、c.1024C>T、c.392G>T、c.95A>G、c.871G>A、c.517T>C、c.1376G>T/ⅣSX1193T>C/c.1311C>T和c.1311C>T/ⅣSX1193T>C。潮州地区健康体检人群G6PD缺乏症的发生率(3.36%)与糖尿病人群(3.52%)比较,差异无统计学意义(P>0.05),而且女性的发生率都高于男性。结论潮州地区糖尿病患者G6PD缺乏症的发生率与本地区健康体检人群G6PD缺乏症的发生率很接近,显示两者之间无明显的相关性。
Objective To investigate the relationship between diabetes and glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chaozhou area. Methods The G6PD activity of 1166 diabetic patients in Chaozhou area was quantitatively detected by the rate method on an automatic biochemical analyzer. Six common sites of G6PD gene mutation were detected by membrane reverse dot blot hybridization, and unknown mutation samples were analyzed by DNA sequencing. In addition, 4221 healthy subjects in Chaozhou area were taken as research objects to record the occurrence of G6PD deficiency. Results In 1166 cases of diabetes, 41 cases of G6PD deficiency were detected, including 15 males and 26 females. The prevalence of G6PD deficiency in Chaozhou population was 3.52%, of which 2.53% for males and 4.53% for females. Ninety-one mutations were detected in 41 patients with G6PD deficiency, c.1376G> T, c.1388G> A, c.1024C> T, c.392G> T, c.95A> G, c .871G> A, c.517T> C, c.1376G> T / IVSX1193T> C / c.1311C> T and c.1311C> T / IVSX1193T> C. The incidence of G6PD deficiency (3.36%) in healthy people in Chaozhou was not significantly different from that in diabetic (3.52%) (P> 0.05), and the incidence of female was higher than that of male. Conclusions The incidence of G6PD deficiency in diabetic patients in Chaozhou is close to the incidence of G6PD deficiency in healthy people in the region, indicating no obvious correlation between the two.