贵阳地区新生儿G-6-PD缺乏症筛查及基因突变分析

An Analysis of Newborn Screening and Gene Mutation of Diagnosis of Glucose-6-phosphate Dehydrogenase Deficiency in Guiyang

目的分析贵阳地区出生人群葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查情况,了解本地区疾病的发生率以及基因突变情况,为指导新生儿疾病筛查工作提供策略依据。方法选取2020年9月-2021年12月期间送检贵阳市新生儿遗传代谢病筛查中心的干血斑样本,共计69537例(男37276例,女32261例),采用荧光定量法测定干血斑中的G-6-PD酶活性,筛查的可疑阳性新生儿召回使用基因突变分析及酶活性检测进行确诊。结果贵阳地区新生儿G-6-PD缺乏症筛查总体阳性率为1.37%(954/69537),其中男、女阳性率分别为1.81%(674/37276)和0.87%(280/32261),两者阳性率比较,差异具有统计学意义(χ^(2)=112.972,P<0.001);可疑阳性新生儿召回594例,召回率62.3%,确诊302例,推算贵阳地区新生儿G-6-PD缺乏症总体发生率为0.70%,345名新生儿中,检测出基因突变238例,共检出10种突变类型:90例(31.5%)c.1024C>T、64例(22.4%)c.1388G>A、52例(18.2%)c.95A>G、50例(17.5%)c.1376G>T、12例(4.2%)c.871G>A、8例(2.8%)c.487G>A、3例(1.0%)c.1004C>A、3例(1.0%)c.392G>T、2例(0.7%)c.592C>T、1例(0.3%)c.1360C>T和一种复合突变。结论贵阳地区最常见的五种G6PD基因突变为c.1024C>T、c.1388G>A、c.95A>G、c.1376G>T、c.871G>A,约占贵阳已鉴定致病等位基因的93.8%,G-6-PD缺乏症属于贵阳地区新生儿疾病筛查的高发病种之一,积极开展新生儿G-6-PD缺乏症筛查具有重要意义。

Objective To analyze newborn screening result of glucose-6-phosphate dehydrogenase deficiency in Guiyang,investigate the incidence of G6PDD and its gene mutation,so as to provide decision-making basis for newborn disease screening in the future.Methods Chioce on septemper 2020 to December 2021,the sampel of dry blood spots of newborns that received by Neonatal Screening Center of Guiyang city,a total of 69537 cases(including male 37276,female 32261),using the fluorescent method for screening G6PDD,for screening positive recall venous blood was collected,using G6PD/6PGD ratio method and G6PD gene mutation analysis.Rusult The study showed that the overall positive rate of screening for G6PDD in newborn in Guiyang was 1.37%(954/69537),and the positive rates of male and female were 1.81%(674/37276)and 0.87%(280/32261),respectively,the difference between the two screening positive rate was statistically significant(χ^(2)=112.972,P<0.001);594 cases of suspicious positive newborn recall,with a recall rate of 62.3%,238 cases confirmed,the overall incidence if G6PDD among newborns in Guiyang was calculated to be 0.7%.Among the 345 newborns diagnosed with G6PDD,238 were detected with gene mutations,and a total of 10 mutation types were detected:90 cases(31.5%)of c.1024C>T,64 cases(22.4%)of c.1388G>A,52 cases(18.2%)of c.95A>G,50 cases(17.5%)of c.1376G>T,12 cases(4.2%)of c.871G>A,8 cases(2.8%)of c.487G>A,3 cases(1.0%)of c.1004C>A,3 cases(1.0%)of c.392G>T,2 cases(0.7%)of c.592C>T,1 cases(0.3%)of c.1360C>T and 1 compound mutations.Conclusion The five most comm G6PD gene mutations in Guiyang area are c.1024C>T,c.1388G>A,c.95A>Gr,c.1376G>T,c.871G>A,accounting for 93.8%of total creative genetic gene.G-6-PD deficiency is one of the high incidence of newborn disease screening in Guiyang redion,it is of important significance to actively carry out G-6-PD deficiency screening in newborns.