摘要
目的:分析深圳地区育龄人群葡萄糖-6磷酸脱氢酶(G6PD)缺乏症的发生率及基因突变特征。方法:采集深圳地区体检育龄夫妇外周血样本,采用葡萄糖-6磷酸脱氢酶/6-磷酸葡萄糖酸脱氢酶(G6PD/6GPD)比值法、突变阻滞聚合酶链扩增系统(ARMS-PCR)结合二代测序(NGS)全序列分析方法,对样本进行G6PD基因突变检测和分析。结果:5640例样本G6PD酶活性异常比例为6.4%(360/5640),G6PD基因突变比率为7.8%(442/5640)。酶活性正常的5280例样本中(男性1331例、女性3949例)基因突变占1.8%(96/5280),男女性样本漏诊率分别为0.3%(3/1331)和2.4%(93/3949),而在1109例G6PD酶活性异常样本(包括之前收集的749例阳性样本)中,有25例样本未发现基因变异,误诊率2.2%(25/1109)。本研究共检出23种基因突变类型,发现c.460A>G、c.226A>C、c.-6T>C、c.452C>G 4种未见报道的基因突变类型。结论:深圳地区常见G6PD缺乏症致病基因突变类型主要为c.1376 G>T、c.1388 G>A、c.95 A>G、c.871 G>A、c.392 G>T、c.1024C>T 6种,与中国人G6PD缺乏症常见基因突变类型基本一致。本研究发现4例尚未见报道的可能致病性突变,其与酶活性缺乏的具体关系尚需进一步深入研究。
Objective:To analyze the incidence of glucose-6-phosphate dehydrogenase(G6PD)deficiency,and to study the characteristic of gene mutation spectrum of G6PD deficiency of people in childbearing age in Shenzhen district.Methods:The blood samples of couples in childbearing age were collected from Shenzhen district.And Amplification Refractory Mutation System Polymerse Chain Reaction(ARMS-PCR)method combined with Next Generation Sequencing(NGS)analysis was used to identify G6PD gene mutations in these samples.Results:Among the 5640 samples,the percentage of G6PD enzymatic abnormality was 6.4%(360/5640),while the mutation rate of G6PD gene was 7.8%(442/5640).There were 5280 samples with normal enzymatic activity of G6PD(1331 males and 3949 females),the mutation rate of G6PD gene was 1.8%(96/5280),and in which,the missed diagnosis rates for mutation of G6PD gene in samples from male and female were 0.3%(3/1331)and 2.4%(93/3949),respectively.In 1109 samples with G6PD enzymatic abnormality(360 samples identified from 5460 undetected enzymatic activity samples and 749 samples with G6PD enzymatic abnormality collected before),and the misdiagnosis rate of mutation of G6PD gene was 2.2%(25/1109).In this study,a total of 23 gene mutations were identified,and four of them were the firstly reported for pathogenicity-related mutations,which included c.460A>G,c.226A>C,c.-6T>C,and c.452C>G.Conclusion:The most common gene mutation with G6PD deficiency of childbearing age people in Shenzhen district are c.1376 G>T,c.1388 G>A,c.95 A>G,c.871 G>A,c.392 G>T and c.1024C>T,which are in concordance with the gene mutations types of G6PD deficiency in Chinese.Four unreported mutations of G6PD enzymatic gene are identified in this study,which need to further research on the relationship between them and the normal enzymatic activity of G6PD.
作者
郭昭鹏
吴群燕
陈仕国
林圣
郑开封
苏进娣
姚克勤
段山
GUO Zhaopeng;WU Qunyan;CHEN Shiguo;LIN Sheng;ZHENG Kaifeng;SU Jindi;YAO Keqin;DUAN Shan(Shenzhen Luohu Maternity and Child Health Care Hospital, 518019;Shenzhen Health Development Research Center)
出处
《中国计划生育学杂志》
2020年第1期18-21,共4页
Chinese Journal of Family Planning
基金
深圳市科技创新委员会科技计划基础研究(自由探索)项目(JCYJ20160428151236429)
关键词
深圳
葡萄糖-6-磷酸脱氢酶缺乏症
酶活性
基因突变
Shenzhen
Glucose-6-phosphate dehydrogenase(G6PD)Deficiency
Enzymatic Activity
Gene Mutation
