嘉兴市SMA携带者筛查及防控策略  

作　　者：苏小燕 平泽朋 姜湖铃 

机构地区：[1]浙江省嘉兴市妇幼保健院,314000

出　　处：《浙江临床医学》2025年第3期433-435,共3页Zhejiang Clinical Medical Journal

基　　金：嘉兴市科技计划项目(2021AD30129)。

摘　　要：目的筛查嘉兴市人群脊髓性肌萎缩症(SMA)携带者,制定SMA携带者区域性防控策略。方法应用多重实时荧光定量PCR法及MLPA法按季度同序筛查嘉兴市1590对备孕夫妻(3180例)及其外周血样本中SMN1基因的突变类型,并结合化学阻断法排除SMN2影响后计算其SMA携带率。结果经检测,3180例内备孕夫妻中携带者为58例,则95%置信区间内其SMN1突变携带率约为1/55,而基于遗传咨询的同序及顺序筛查模式灵活切换策略有助于嘉兴强化每年3万多新生儿SMA三级联动预防体系。结论我国备孕群体流动加快,以嘉兴市试点区域性备孕夫妇SMA动态筛查数据库建设,为国家层面多样性备孕群体SMA筛查及产前诊断提供重要参考价值。Objective To screen for spinal muscular atrophy(SMA)carriers in the Jiaxing population and develop regional prevention and control strategies for SMA carriers.Methods A total of 1,590 pre-pregnancy couples(3,180 individuals)and their peripheral blood samples were sequentially screened quarterly using multiplex real-time fluorescence quantitative PCR and MLPA to identify SMN1 gene mutation types.The influence of SMN2 was excluded by chemical blocking,and the SMA carrier rate was calculated.Results Among the 3,180 pre-pregnancy couples tested,58 were identified as carriers,resulting in an SMN1 mutation carrier rate of approximately 1/55 within a 95%confidence interval.A flexible strategy combining simultaneous and sequential screening models,along with genetic counseling,helped strengthen the three-tier SMA prevention system for over 30,000 newborns annually in Jiaxing.Conclusion With the increasing mobility of pre-pregnancy populations in China,the establishment of a dynamic SMA screening database for regional pre-pregnancy couples in Jiaxing serves as a pilot project.This provides significant reference value for national-level SMA screening and prenatal diagnosis in diverse pre-pregnancy populations.

关 键 词：SMA 荧光定量PCR 人群携带率 SMN1 SMN2 

分 类 号：R746.2[医药卫生—神经病学与精神病学]