荧光定量PCR筛查脊髓性肌萎缩症基因携带孕妇的效果观察

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Doi：10.3969/j.issn.1673—5293.2025.08.010

[中图分类号]R173 [文献标识码]A [文章编号]1673—5293（2025）08—0061—06

Effect of quantitative fluorescent PCR on screening pregnant women carrying spinal muscular atrophy gene

LUOXiuxia，LUOQin，LIUWeichou，XIEXiaoyan，ZHU Zinian （Department of Laboratory Medicine，Dongguan People's Hospital，Guangdong Dongguan 523Ooo，China）

[Abstract]Objective Toevaluate theeffectivenessof quantitative fluorescent polymerase chainreaction（PCR）inscreening pregnant women for spinal muscular atrophy（SMA）gene carrer status.Methods A retrospective analysis was conducted on peripheralbloodsamplesfrom 6OOpregnant women whovoluntarilyunderwent SMAscreeningatourhospital betweenOctober 2022andApril 2023.Multiplex ligation-dependent probeamplication（MLPA）andquantitativefluorescent PCRwereusedto detect SMA gene carrerstatus.MLPA servedas the gold standard toassessthe accuracyofquantitativefluorescent PCR.Results MLPAanalysisidentified 60cariersamong the6pregnant women，comprising 50cases with1genecopyofboth SMNlexon7 and exon 8，9 cases with only SMNl exon 8 heterozygous deletion，andl case withonly SMN1 exon7 heterozygous deletion，while 540casesshowed2 genecopies ofboth exon7and exon8of SMN1.Quantitativefluorescent PCR indicatedthatthere were 60 cariers，f which50cases wereissingheteroygosityinexon7andexon8ofSM1，casewasmisingheterozygosityneon8， 9casesweremising heterozygosityinexon8，and54Ocases werenotmissingexon7andexon8.Thesensitivityspecifity， accuracy rate and Kappa value of quantitative fluorescent PCR were 100.00%，100.00%，100.00% and 1 respectively. Conclusion The study confirmed that quantitative fluorescent PCR provides screning performance identical to MLPAfor SMAcarrier detectioninpregnantwomen.Withitsaditionaladvantagesofoperationaleficiencyandclinicalconvenience，quantitative fluorescent PCR emerges as a highly suitable alternative for routine screning applications in prenatal care setings. [Key words] pregnant women;spinal muscular atrophy;quantitative fluorescent polymerase chain reaction;gene

脊髓性肌萎缩症（spinal muscularatrophy，SMA）是由运动神经元存活基因1（survivalmotorneuron1，SMN1）的突变或缺失引起的常染色体隐性遗传性疾病，该疾病的特点为脊髓前角运动神经元变性和缺失，主要症状为四肢躯干和近侧的进行性、对称性肌无力、萎缩，会降低患者的生存质量[]由于SMA通常在儿童期发病，并且目前还没有有效的治疗方法，因此早期筛查和诊断对于预防SMA患儿的出生以及改善已患病儿童的生活质量至关重要[2]。（剩余8300字）