贵州医科大学学报

2019, v.44;No.226(07) 777-780

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贵阳地区5486例孕妇G6PD缺乏症基因突变筛查
Analysis of the Screening Results of Glucose-6-phosphate Dehydrogenase Gene Mutations in 5 486 Pregnant Women from Guiyang

李頔;卓召振;王怡萌;熊永红;胡莉;杨国珍;黄盛文;
LI Di;ZHUO Zhaozhen;WANG Yimeng;XIONG Yonghong;HU Li;YANG Guozhen;HUANG Shengwen;School of Clinical Laboratory Science,Guizhou Medical University;Department of Clinical Laboratory,People's Hospital of Guizhou Province;

摘要(Abstract):

目的:了解贵阳地区孕妇人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的携带率及基因突变情况。方法:采集5 486例孕妇外周静脉血并提取基因组DNA,采用多色探针荧光PCR熔解曲线法检测G6PD基因突变,分析基因突变情况。结果:5 486例孕妇人群中筛出G6PD基因携带者184例,携带率为3.35%;共检出15种基因型和11种突变类型,其中最常见的5种突变类型是c.1388G>A、c.519C>T、c.95A>G、c.1024C>T和c.1376G>T,占所有突变类型的89.23%。结论:贵阳地区孕妇人群G6PD缺乏症的携带率和基因突变具有一定比例,对该人群进行G6PD缺乏症分子筛查,可预防G6PD缺乏症对新生儿造成的危害。
Objective:To investigate the carrier rate of glucose-6-phosphate dehydrogenase(G6PD deficiency and the gene mutations of pregnant women in Guiyang.Methods:Peripheral blood of pregnant women from Guiyang was collected and genomic DNA was extracted.The mutations of G6PD gene were detected by real-time PCR based multiplex fluorescence melting curve analysis,and the gene mutations were analyzed.Results:Among the 5486 pregnant women,184 cases were G6PD gene carriers determined by this screening program,with a carrier rate of 3.35%.A total of 15 genotypes and11 mutation types were detected.The most common five mutation types were c.1388 G>A,c.519 C>T,c.95 A>G,c.1024 C>T and c.1376 G>T,accounting for 89.23% of all mutation types.Conclusion:The carrier rate of G6PD deficiency and gene mutations in pregnant women from Guiyang are preliminarily obtained.Molecular screening for G6PD deficiency in pregnant women can prevent the harm of G6PD deficiency on newborns in time.

关键词(KeyWords): 产前诊断;新生儿筛查;基因测定;葡萄糖-6-磷酸脱氢酶
prenatal diagnosis;neonatal screening;genetic assay;glucose-6-phosphate dehydrogenase

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基金项目(Foundation): 贵州省科技厅基金[黔科合平台人才(2016)5670号];; 贵阳市科技创新平台计划[筑科合同(20161001)35]

作者(Author): 李頔;卓召振;王怡萌;熊永红;胡莉;杨国珍;黄盛文;
LI Di;ZHUO Zhaozhen;WANG Yimeng;XIONG Yonghong;HU Li;YANG Guozhen;HUANG Shengwen;School of Clinical Laboratory Science,Guizhou Medical University;Department of Clinical Laboratory,People's Hospital of Guizhou Province;

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DOI: 10.19367/j.cnki.1000-2707.2019.07.007

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