海南省新生儿G6PD缺乏症筛查十年回顾分析

Retrospective analysis of a ten-year screening project for G6PD deficiency in neonates in Hainan Province

目的寻找海南省人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发病情况和基因突变特点。方法对海南省2007至2016年出生的914520名新生儿的干血斑使用荧光斑点法进行G6PD活性筛查。初筛可疑标本召回使用G6PD/6-磷酸葡萄糖脱氢酶(6GPD)比值法进行确诊,对2016年确诊为G6PD缺乏的患儿的3012份干血斑使用多色探针荧光PCR熔解曲线法进行基因分型。结果海南省10年间在914520例新生儿中初筛阳性36314例,确诊了26370例G6PD缺乏,发病率为2.88%(26370/914520)。以民族划分,汉族人群G6PD发病率2.80%(21688/774555)。黎族人群发病率3.45%(4292/124419),黎族和汉族发病率比较,差异具有统计学意义(χ^2=161.261,P=0.000)。苗族人群发病率3.31%(212/6401),苗族和汉族发病率相比较差异具有统计学意义(χ^2=6.104,P=0.013)。其他民族人群发病率为1.95%(178/9145),与汉族发病率相比较差异具有统计学意义(χ^2=24.283,P=0.000)。在3012例G6PD确诊病例中共检出13种基因突变,其中c.1376 G>T、c.1388 G>A、c.95 A>G和c.1024 C>T突变合并约占91.74%。其中经基因测序发现16种基因型以外的2种突变,即c.86C>T和c.1311C>T。结论海南省新生儿人群G6PD发病率高,G6PD发病有民族和地域差异。海南省人群基因突变主要以c.1376G>T、c.1388G>A、c.95 A>G和c.1024 C>T为主。

Objective To investigate the prevalence of glucose-6-posphate dehydrogenase(G6PD)deficiency and its gene mutations among neonates in Hainan Province.Methods The G6PD activity of dried blood spots of 914520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province.The G6PD/6-glucose phosphate dehydrogenase(6GPD)ratio method was used to confirm the diagnosis of suspected specimens,and 3012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis.Results From 2007 to 2016,36314 positive cases were screened in 914520 neonates.A total of 26370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26370/914520)in Hainan Province.The incidences of G6PD deficiency were 2.80%(21688/774555)in ethnic Han population,3.45%(4292/124419)in ethnic Li population,3.31%(212/6401)in ethnic Miao population and 1.95%(178/9145)in other ethnic groups.There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ^2=161.261,P=0.000),ethnic Miao population(χ^2=6.104,P=0.013)and other ethnic groups(χ^2=24.283,P=0.000).A total of 13 mutation types were detected by gene detection in 3012 confirmed cases of G6PD deficiency,of which c.1376 G>T,c.1388 G>A,c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%.Two mutations outside 16 genotypes,c.86 C>T and c.1311 C>T,were found by gene sequencing.Conclusions The incidence of G6PD deficiency among newborns in Hainan Province is high,and there are ethnic and regional differences.The dominant genetic mutations in Hainan Province are c.1376 G>T,c.1388 G>A,c.95 A>G and c.1024 C>T.