莆田市20648例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果及突变基因型分析  

Screening and mutant genotype analysis of 20 648cases of neonatal Glucose-6-Phosphate Dehydrogenase deficiency in Putian city

作　　者：周建福[1] 刘莉莉 黄茂新[1] 林堃 张一冰 ZHOU Jian-fu;LIU Li-li;HUANG Mao-xin;LIN Kun;ZHANG Yi-bing(Neonatal Department,Affiliated Hospital of Putian College;Neonatal Disease Screening Center,Putian,Fujian 351100)

机构地区：[1]莆田学院附属医院新生儿科,福建莆田351100 [2]莆田学院附属医院新生儿疾病筛查中心,福建莆田351100

出　　处：《赣南医学院学报》2022年第10期1051-1055,共5页JOURNAL OF GANNAN MEDICAL UNIVERSITY

基　　金：莆田市科技计划项目立项项目(2022S3F007)。

摘　　要：目的:初步筛查莆田学院附属医院新生儿葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症发病率及突变基因型分布。方法:收集2020年7月至2021年3月新生儿疾病筛查滤纸片干血斑检测G-6-PD酶活性;对阳性病例采用多色探针荧光PCR熔解曲线法检测基因型,分析突变位点的分布。结果:20 648例样本的G-6-PD阳性率7.12‰;接受突变基因检测103例,确诊93例,突变位点分布:c. 1376G>T变异31例,c. 1024C>T变异16例,c. 1388G>A变异12例,c. 95A>G变异9例,c. 392G>T变异9例,c. 487G>A变异7例,c. 871G>A变异5例,c. 1360C>T变异2例,c. 592C>T1例,混合突变(c. 1024C>T、c. 392G>T)1例。结论:G-6-PD初筛总阳性率7.12‰;共检出G-6-PD缺乏症9种常见突变类型和1种混合突变;三种最常见突变类型:c. 1376G>T(30.10%)、c. 1024C>T(15.53%)、c. 1388G>A(11.65%)。Objective:To do preliminary screening of neonatal glucose-6-phosphate dehydrogenase(G-6-PD)deficiency incidence and mutation genotype distribution in Putian city.Methods :Dried blood spots of disease screening filter paper of the neonates from July 2020 to March 2021 were collected,and the preliminary screening test of G-6-PD activity was conducted in the Neonatal Disease Screening Center. Polychromatic probe fluorescence PCR fusion curve methods was used to confirm the diagnosis of neonatals with positive initial screening,and the distribution of G-6-PD mutants was analyzed.Results:A total of 20 648 samples were screened for G-6-PD,the total positive rate was 7. 12‰. There were103 cases who agreed to undergo mutation gene testing,and 93 cases were confirmed. Distribution of mutant genes:c. 1376G>T variation in 31 cases,c. 1024C>T variation in 16 cases,c. 1388G>A variation in 12 cases,c. 95A>G variation in9 cases,c. 392G>T variation in 9 cases,c. 487G>A variation in 7 cases,c. 871G>A variation in 5 cases,c. 1360C>T variation in 2 cases,c. 592C>T variation in 1cases,1 case of mixed mutation(c. 1024C>T、c. 392G>T).Conclusion :The total positive rate of neonatal screening for G-6-PD was 7. 12‰;A total of 9 common mutation types and 1 mixed mutation were found;The top three common mutation types were c. 1376G>T(30. 10%),c. 1024C>T(15. 53%),and c. 1388G>A(11. 65%).

关 键 词：葡萄糖-6-磷酸脱氢酶 新生儿筛查 基因突变 

分 类 号：R722.11[医药卫生—儿科]