目的 了解安徽省3市新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生情况及基因突变特征。方法 在安庆市、合肥市和阜阳市分别选取一部分分娩量较大的医疗机构,收集31 480例新生儿疾病筛查标本进行G6PD缺乏症筛查,对可疑样本进行基因检测,采用SPSS 22.0软件分析安徽省3市G6PD缺乏症的检出率和基因突变位点分布情况。结果 共检出男性半合子变异数28例,女性杂合子变异数29例,未发现女性纯合变异,安徽省3市G6PD缺乏症总体检出率为0.089%,基因突变携带率为0.18%。共发现7种突变类型,其中c.95A>G、c.1376G>T、c.1388G>A和c.1024C>T,这4个基因变异位点构成比达到82.4%。男性半合子变异组G6PD酶活性低于女性杂合子变异组(Z=-0.605,P<0.001)。结论 安徽省3市G6PD缺乏症检出率较高,建议将其纳入新生儿遗传代谢病常规筛查病种。

Objective To investigate the occurrence and gene mutation characteristics of glucose-6- phosphate dehydrogenase (G6PD) deficiency in newborns in 3 cities of Anhui Province. Methods Selection of a portion of medical institutions with a large number of delivery in Anqing City,Hefei City,and Fuyang City,respectively.31 480 samples of neonatal disease screening were collected for G6PD deficiency screening.Genetic testing was performed on suspicious samples.The incidence rate of G6PD deficiency and the distribution of gene mutation sites in 3 cities of Anhui Province was analyzed by SPSS 22.0 software. Results 28 cases of male hemizygous variation and 29 cases of female heterozygous variation were detected.No female homozygous variation was found.The overall incidence rate of G6PD deficiency in 3 cities of Anhui Province was 0.089%,and the gene carrying rate was 0.18%.A total of 7 mutation types were found,among which the proportion of four gene mutation sites,c.95A>G,c.1376G>T,c.1388G>A,and c.1024C>T,constituted 82.4% of the loci.The G6PD enzyme activity in the male hemizygous variation group was lower than that in the female heterozygote variation group (Z=-0.605,P<0.001). Conclusion The incidence rate of G6PD deficiency is relatively high in 3 cities of Anhui Province.It is recommended to include G6PD deficiency as a routine screening disease in newborn genetic metabolic disease screening.