东莞地区新生儿G6PD缺乏症发生率及基因突变分析  

Analysis of the Incidence of G6PD Deficiency and Gene Mutation in Newborns in Dongguan

作　　者：叶立新[1] 黄锐华 莫润旺[1] 谢彩连 蔡小娟[1] YE Lixin;HUANG Ruihua;MO Runwang;XIE Cailian;CAI Xiaojuan(Dongguan City Maternal&Child Health Hospital,Dongguan 523002,China)

机构地区：[1]广东省东莞市妇幼保健院,广东东莞523002

出　　处：《中国医学创新》2020年第20期77-81,共5页Medical Innovation of China

摘　　要：目的:了解东莞地区出生人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症发生率及其基因突变情况.方法:选择2016年9月1日-2019年12月31日东莞市送检的新生儿疾病筛查标本,共432820例,其中男232254例,女200566例,出生后72 h采集足跟血制作成干血斑,采用荧光定量法进行G6PD缺乏症筛查,对筛查阳性者召回采集静脉血采用G6PD/6PGD比值法进行确诊,对部分确诊者采用荧光定量PCR多色熔解曲线法(MMCA)进行G6PD基因突变分析.结果:东莞地区新生儿G6PD缺乏症筛查总体阳性率为3.60%(15588/432820),其中男、女阳性率分别为5.06%(11750/232254)和1.91%(3838/200566),两者筛查阳性率比较,差异有统计学意义(x^2=3067.24,P<0.001);本市户籍、本省户籍、外省户籍新生儿筛查阳性率分别为3.50%(4684/133719)、5.79%(5303/91553)、2.70%(5601/207548),本市户籍新生儿筛查阳性率与本省户籍、外省户籍比较,差异均有统计学意义(x^2=672.31、179.95,P<0.001).筛查阳性新生儿召回7044例,召回率45.19%,确诊5907例,确诊符合率83.86%,推算东莞地区新生儿G6PD缺乏症总体发生率为3.02%;男女的确诊符合率比较,差异有统计学意义(x^2=1164.83,P<0.001).219例确诊G6PD缺乏症新生儿中,检测出基因突变216例,共检出10种突变类型:67例(31.02%)c.1376G>T、67例(31.02%)c.1388G>A、26例(12.04%)c.871G>A、25例(11.57%)c.95A>G、7例(3.24%)c.1024C>T、7例(3.24%)c.392G>T、3例(1.39%)c.517T>C、2例(0.93%)c.1004C>A、1例(0.46%)c.1360C>T、1例(0.46%)c.592C>T和7种复合突变.结论:东莞地区是G6PD缺乏症的高发区,最常见的三种基因突变类型为c.1376G>T、c.1388G>A、c.871G>A,积极扎实开展新生儿G6PD缺乏症筛查具有重要意义.Objective:To investigate the incidence of G6PD deficiency and its gene mutation in the population born in Dongguan.Method:Choice on September 1,2016 to December 31,2019,the city makes the newborn screening specimens,a total of 432820 cases,including male 232254,female 200566,72 h after birth to collect heel blood into dried blood spots,using the fluorescent quantitative method for screening G6PD deficiency,for screening positive recall venous blood was collected,using G6PD/6PGD ratio method to carry on the diagnosis,for part of those Diagnosed G6PD gene mutation were analyzed by fluorescence quantitative PCR multicolor melting curve assay(MMCA).Result:This study showed that the overall positive rate of screening for G6PD deficiency in newborns in dongguan was 3.60%(15588/432820),and the positive rates of male and female were 5.06%(11750/232254)and 1.91%(3838/200566),respectively,the difference between the two screening positive rate was statistically significant(χ^2=3067.24,P<0.001);the positive screening rate of newborns with the city’s household registration,provincial household registration and non provincial household registration was 3.50%(4684/133719),5.79%(5303/91553)and 2.70%(5601/207548),respectively,the positive rate of newborn screening in this city was statistically significant compared with that in this province and other provinces(χ~2=672.31,179.95,P<0.001).There were 7044 cases of recall of positive newborns after screening,with a recall rate of 45.19%,5907 cases confirmed,and a confirmed compliance rate of 83.86%,the overall incidence of G6PD deficiency among newborns in Dongguan was calculated to be 3.02%;there was a significant difference in the confirmed compliance rate between men and women(χ^2=1164.83,P<0.001).Among the 219 newborns diagnosed with G6PD deficiency,216 were detected with gene mutations,and a total of 10 mutation types were detected:67 cases(31.02%)of c.1376G>T,67 cases(31.02%)of c.1388G>A,26 cases(12.04%)of c.871G>A,25 cases(11.57%)of c.95A>G,7 cases(3.24%)of c.1024G>T,7 c

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 新生儿疾病筛查 多色熔解曲线法 基因突变 

分 类 号：R722.1[医药卫生—儿科]