SMA基因筛查和诊断技术的应用研究  

Application study of SMA genetic screening and diagnostic techniques

作　　者：李乐 周鑫[1] 戴翔[2] 曹翠 LI Le;ZHOU Xin;DAI Xiang;CAO Cui(Center for Disease Control and Prevention of Hanyang District,Wuhan,Hubei Province,430051;Wuhan Children’s Hospital Affiliated to Tongji Medical College of Huazhong University of Science&Technology,Wuhan Maternal and Child Health Care Hospital,Wuhan)

机构地区：[1]湖北省武汉市汉阳区疾病预防控制中心,430051 [2]华中科技大学同济医学院附属武汉儿童医院,武汉市妇幼保健院

出　　处：《中国计划生育学杂志》2023年第10期2488-2490,共3页Chinese Journal of Family Planning

基　　金：武汉市卫健委科研项目(WX15C20)。

摘　　要：目的:对10例中国人脊髓性肌萎缩症(SMA)家系进行基因诊断与产前诊断,为临床筛查、诊断SMA方法提供参考。方法:收集SMA家系患者及父母的临床资料、外周血和羊水样本,并提取DNA。应用荧光定量PCR(qPCR)检测基因突变型,应用多重连接探针扩增技术(MLPA)对其结果进行验证。结果:qPCR结果显示患者均为SMN1基因外显子7纯合缺失,父母均为7号外显子杂合缺失。MLPA结果显示患者均为SMN1基因7、8外显子纯合缺失,父母均为7、8外显子杂合缺失。羊水样本中,1例SMN1基因7、8外显子纯合缺失,2例SMN1基因7、8外显子杂合缺失,1例SMN1基因7、8外显子未见缺失。结论:qPCR检测方法简单、快速、经济,且结果稳定适合SMA的初步诊断和大规模人群筛查,结合MLPA,是临床的高效、经济且稳定的SMA基因诊断方法。Objective:To conduct the genetic diagnosis and prenatal diagnosis of 1o patients with spinal muscular atro-phy(SMA)from Chinese families,and to provide reference for the clinical screening and diagnosis of patients withSMA.Methods:The clinical data,and the peripheral blood and amniotic fluid samples of the patients with SMA andtheir parents were collected.DNA was extracted from these samples.The gene mutations of the patients were detectedby quantitative real-time PCR(qPCR),and the results were verified by multiple ligated probe amplification(ML-PA).Results:The results of qPCR showed that all the patients had homozygous deletion of exon 7 of SMNl gene,andtheir parents had heterozygous deletion of exon 7.The results of MLPA showed that all the patients had homozygousdeletion of exon 7 and 8 of SMN1 gene,and their parents had heterozygous deletion of exon 7 and 8 of SMNl gene.Inthe amniotic fluid samples,there was 1 case with homozygous deletion of exon 7 and 8 of SMNl gene,2 cases withheterozygous deletion of exon 7 and 8 of SMN1 gene,and 1 case without deletion of exons 7 and 8 of SMN1 gene.Con-clusion:qPCR is a simple,rapid,and economical method for detecting the gene mutations,and which is a stable meth-od for preliminary diagnosis and mass screening of SMA.The combined application of qPCR and MLPA is the high ef-ficient,economical,and stable genetic diagnosis method for SMA of the patients.

关 键 词：脊髓性肌萎缩症 基因 荧光定量PCR 多重连接探针扩增技术 

分 类 号：R744.8[医药卫生—神经病学与精神病学]