Abstract: Objective To investigate the prevalence and genotypes of the glucose-6-phosphate dehydrogenase(G6PD)deficiency in neonates from Qingdao.Methods A total of 214 466 local neonates in Qinagdao from January 2014 to February 2016 were screened for G6PD deficiency by fluorometric method.Then all the screening positive samples were subjected to genotype by fluorescent PCR melting curve analysis.Results Totally 44 positive samples were screened and 36 samples were determined by gene diagnosis. The prevalence of G6PD deficiency in neonates from Qingdao was 0.168‰.(36/214 466),and the prevalence of males and females was 0.149‰ (32/214 466) and 0.0187‰(4/214 466),respectively. Finally seven G6PD gene mutations were detected, including c.1376 G＞T(13/36,36.11%), c.1388 G＞A(10/36,27.78%), c.95 A＞G(7/36,19.44%), c.487 G＞A(2/36,5.56%), c.871 G＞A(2/36,5.56%),c.517 T＞C(1/36,2.78%) and c.383 T＞C(1/36,2.78%).Conclusion The prevalence of G6PD deficiency in Qingdao is lower,and the most common genotypes are c.1376 G＞T, c.1388 G＞A and c.95 A＞G, accounting for 83.33% of the gene mutation cases.

Key words: glucose-6-phosphate dehydrogenase deficiency, Qingdao, incidence, gene mutation

摘要： 目的 了解青岛地区新生儿葡萄糖6-磷酸脱氢酶(G6PD)缺乏症的发生率和基因突变类型。方法 用荧光分析法对2014年1月-2016年2月在青岛市新生儿筛查中心筛查的214 466例样本进行G6PD酶学筛查,用荧光PCR熔解曲线法测定酶学筛查缺陷样本的基因突变类型。结果 酶学筛查阳性44例,基因确诊36例,青岛地区G6PD 缺乏症的患病率为0.168‰(36/214 466),男女患病率分别为0.149‰(32/214 466)和0.0187‰(4/214 105),男女患病率比例为8∶1,共检出7种G6PD 基因点突变,包括c.1376 G＞T(13/36,36.11%), c.1388 G＞A(10/36,27.78%), c.95 A＞G(7/36,19.44%), c.487 G＞A(2/36,5.56%), c.871 G＞A(2/36,5.56%),c.517 T＞C(1/36,2.78%)和c.383 T＞C(1/36,2.78%),未检出复合突变。结论 青岛地区G6PD 缺乏症患病率较低,最常见的基因型为c.1376 G>T、c.1388 G>A、c.95 A>G,此3种突变占基因突变病例总数的83.33%。

关键词: G6PD 缺乏症, 青岛, 发病率, 基因突变