福建省宁德市新生儿G6PD缺乏症基因型结果分析

Genotype Analysis of G6PD Deficiency in Neonates in Ningde City,Fujian Province

目的:调查福建省宁德市葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在新生儿中的发生率及其基因型的分布,以预防G6PD缺乏症患儿的急性发作。方法:采用回顾性研究,调查2016年4月至2017年1月于宁德市出生的采足底血进行G6PD筛查的新生儿,电话召回可疑患儿,复检并进行基因型检测,特别观察畲族新生儿的结果。结果:本研究足底血筛查新生儿共43192例,其中有初筛阳性者699例,检出率为1.62%(699/43192),男性646例,占1.50%,女性53例,占0.12%;召回528例,召回率75.54%;复检阳性496例,复检阳性符合率93.93%。280例(56.35%)新生儿进行G6PD缺乏症基因筛查,检出G6PD缺乏症239例,符合率为85.36%;其中畲族患儿64例,占召回人数的22.86%,阳性53例,阳性符合率82.81%;复检人群中畲族阳性患儿占为18.92%。本研究检出c.1376G>T、c.1388G>A、c.95A>G、c.871G>A、c.392G>T、c.1360C>T、c.1024C>T、c.1387G>T、c.487G>A、c.493A>G共10种基因型,其中以c.1376G>T突变最多,占53.55%;畲族人群中G6PD缺乏症患儿检出常见的基因型为:c.1376G>T、c.1388G>A、c.95A>G、c.1024C>T。结论:宁德市新生儿G6PD缺乏症发病率为1.62%,因该病的遗传特点,男性新生儿的发病率显著高于女性;宁德地区以基因型c.1376G>T、c.1388G>A、c.95A>G为多见;畲族人群中亦以c.1376G>T、c.1388G>A、c.95A>G常见。

Objective To investigate the incidence and genotype distribution of glucose-6-phosphate dehydrogenase(G6PD) deficiency in neonates in Ningde city,Fujian province,in order to prevent the acute onset of G6PD deficiency.Methods A retrospective study was conducted to investigate neonates born in Ningde City from April 2016 to January 2017 who received plantar blood for G6PD screening.Suspicious children were recalled by telephone for reexamination and genotype testing,special observation of the results of She nationality newborn.Results In this study,a total of 43192 neonates were screened for plantar blood,among which 699 neonates were initially positive,with a detection rate of 1.62%(699/43192).There were 646 males(1.50%)and 53 females(0.12%).528 cases were recalled,with a recall rate of 75.54%.496 cases were retested positive,and the coincidence rate of retested positive was 93.93%.A total of 280 neonates(56.35%)were screened for G6PD deficiency,and 239 neonates were detected for G6PD deficiency,the coincidence rate was 85.36%.There were 64 cases of She nationality children,accounting for 22.86%of the recalled number,53 cases were positive,and the positive coincidence rate was 82.81%.She nationality positive children accounted for 18.92%in the reexamination population.In this study,10 genotypes were detected:c.1376G>T,c.1388G>A,c.95A>G,c.871G>A,c.392G>T,c.1360C>T,c.1024C>T,c.1387G>T,c.487G>A,c.493A>G.Among them,c.1376G>T mutation was the most common,accounting for 53.55%.The common genotypes of G6PD deficiency in She population were c.1376G>T,c.1388G>A,c.95A>G and c.1024C>T.Conclusion The incidence of G6PD deficiency in neonates in Ningde city was 1.62%.Due to the genetic characteristics of G6PD deficiency,the incidence of male neonates was significantly higher than that of female neonates.The genotypes c.1376G>T,c.1388G>A and c.95A>G were most common in Ningde area.c.1376G>T,c.1388G>A and c.95A>G are also common in She population.