四川地区新生儿G6PD缺乏症筛查及确诊情况分析  

An analysisof newborn screening and determination of diagnosis of glucose-6-phosphate dehydrogenase deficiency in Sichuan

作　　者：周婧瑶[1] 张钰[1] 胡琦[1] 陈雪莲[1] 杨丽涓 苏星月 欧明才[1] ZHOU Jingyao;ZHANG Yu;HU Qi;CHEN Xuelian;YANG Lijuan;SU Xingyue;OU Mingcai(Sichuan Provincial Woman and Child Health Hospital,Sichuan Chengdu 610045,China)

机构地区：[1]四川省妇幼保健院,四川成都610045

出　　处：《中国妇幼健康研究》2020年第2期263-266,共4页Chinese Journal of Woman and Child Health Research

基　　金：四川省卫计委课题资助项目(项目编号:110289).

摘　　要：目的分析四川地区葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查情况及其分子遗传学特征,为卫生行政部门提供决策依据。方法采用干血斑G6PD荧光定量法,对四川省新生儿疾病筛查中心2014年12月至2017年12月接收的229091例新生儿样本进行G6PD缺乏症筛查,对182例筛查阳性高危患儿联合运用G6PD酶学诊断和基因诊断。结果①在229091例新生儿中,筛查阳性者1169例(男1028例,女141例),筛查阳性率为0.51%(男性新生儿为0.87%,女性新生儿为0.13%)。②对其中的182例阳性高危患儿(男153例,女29例)进行G6PD基因热点变异分析,122例男性为半合子,男性G6PD缺乏症筛查阳性与G6PD基因热点变异诊断符合率为79.74%(122/153),9例女性检出存在变异,女性G6PD缺乏症筛查阳性与G6PD基因热点变异诊断符合率为31.03%(9/29)。5种常见变异为:c.1376G>T、c.1388G>A、c.1024C>T、c.95A>G、c.871G>A,共占检出变异位点的90.84%,其中c.1388G>A基因突变为本地区主要的基因突变类型。③对51例未检出基因热点变异的高度疑似患儿样本进行G6PD基因测序,发现5例男性新生儿分别有c.406C>T 2例、c.703C>T 1例、c.835A>T 1例及c.1311C>T 1例变异。④根据基因变异检出率推测,四川地区G6PD患病率男性新生儿约为0.72%、女性新生儿约为0.04%。⑤与G6PD基因诊断方法相比,G6PD酶学诊断的敏感度为90.44%,男性新生儿为93.70%、女性新生儿为44.44%;阳性预测值为85.42%,男性新生儿为87.50%、女性新生儿为50.00%。结论该地区现有的新生儿G6PD缺乏症筛查及酶学诊断标准可检出绝大多数男性患儿,结合分子诊断分析能提高诊断准确度及女性杂合子检出率,可进一步对疾病实施有效防范。Objective To analyze newborn screening result of glucose-6-phosphate dehydrogenase deficiency(G6 PDD)in Sichuan province and reveal molecular genetic features of the disease,so as to provide decision-making basis for health administrative departments.Methods 229091 blood samples of the newborns that received by Neonatal Screening Center of Sichuan Province in a period from December 2014 to 2017 December were screened for G6 PDD by using quantitative fluorescence assay of dry blood spots.Genetic diagnosis combined with G6 PD enzyme diagnosis was performed for 182 cases with positive screening result and high risk.Results(1)A total of 1169 cases showed positive screening results among 229091 newborns with 0.51%of total positive screening rate,including 1028 males with 0.87%of positive screening rate(1028/118651)and 141 females with 0.13%of positive screening rate(141/110440).(2)The results of hot spot gene mutation analysis of G6 PD for 182 newborns with positive screening results and high risk(153 males and 29 females randomly chosen)showed that 122 males were hemizygote with 79.74%of diagnosis accordance rate(122/153)and 9 females were found to be variant with 31.03%of diagnosis accordance rate(9/29).Five common variants were c.1376 G>T,c.1388 G>A,c.1024 C>T,c.95 A>G and c.871 G>A,accounting for 90.84%of total detected variant sites,of which,c.1388 G>A gene mutation was the main gene mutation type in Sichuan area.(3)G6 PDD gene sequencing was performed on 51 highly suspected newborns who had positive screening results but hadn’t any hot spot mutation in G6 PDD gene.5 males were found to have any mutations such as c.406 C>T(2/5),c.703 C>T(1/5),c.835 A>T(1/5)and c.1311 C>T(1/5)respectively.(4)According to the detection rate of G6 PDD variant gene,the incidence rate of G6 PDD among male infants was 0.72%and that among female infants was 0.04%in Sichuan area.(5)As compared with G6 PDD gene diagnosis,the G6 PDD diagnosis sensitivity of enzyme activity assay was 90.44%,for male newborns it was 93.70%and for female ne

关 键 词：G6PD缺乏症 新生儿疾病筛查 分子诊断 基因突变 

分 类 号：R153.2[医药卫生—营养与食品卫生学]