临沂地区脊髓性肌萎缩症基因筛查结果分析  

Analysis of gene screening results of spinal muscular atrophy in Linyi area

作　　者：赵瑞 李西霞 ZHAO Rui;LI Xixia(Medical Genetics Department,Women and Children's Health Care Hospital of Linyi,Linyi 276000,China)

机构地区：[1]临沂市妇幼保健院医学遗传科,山东临沂276000

出　　处：《临床医学研究与实践》2025年第12期86-89,共4页Clinical Research and Practice

摘　　要：目的对临沂地区脊髓性肌萎缩症(SMA)携带者进行筛查,分析本地区SMA的人群携带特征。方法收集2023年2月至9月在临沂市妇幼保健院出生的6018例新生儿、432例孕前筛查者及3例肌张力减弱及SMA家族史幼儿的资料,共6453例。采用荧光定量PCR法检测运动神经元生存基因1(SMN1)基因第7、8外显子的拷贝数,筛查SMA携带者;采用多重连接依赖探针扩增(MLPA)技术进行验证,统计携带率。结果在6018例新生儿中,检测出SMA携带者104例,携带率为1.73%;在432例孕前筛查者中,检测出SMA携带者9例,携带率为2.08%。新生儿和孕前筛查者的携带率比较,差异无统计学意义(P>0.05)。3例患儿因有相关临床症状,经检测均为E7、E8纯合缺失,后经MLPA验证确诊为SMA。结论临沂地区SMA人群携带率较高,大规模普及筛查对于预防、诊断和治疗具有重要的临床应用价值,尤其对于有相关临床症状的患儿其是必不可少的检测项目。Objective To screen the carriers of spinal muscular atrophy(SMA)in Linyi area,and to analyze the population carrying characteristics of SMA in this area.Methods From February to September 2023,the datas of 6018 newborns born in Women and Children's Health Care Hospital of Linyi,432 pre-pregnancy screenings,and 3 children with decreased muscle tone and SMA family history were collected,a total of 6453 cases.The copy number of exons 7 and 8 of survival motor neuron 1(SMN1)gene was detected by quantitative fluorescent polymerase chain reaction to screen SMA carriers;the multiplex ligation-dependent probe amplification(MLPA)technique was used for verification,and the carrying rate was counted.Results Among 6018 newborns,104 cases of SMA carriers were detected,with a carrying rate of 1.73%;among 432 cases of pre-pregnancy screening,9 cases of SMA carriers were detected,with a carrying rate of 2.08%.There was no significant difference in the carrying rate between newborns and pre-pregnancy screening(P>0.05).Due to the related clinical symptoms,3 cases were detected as homozygous deletion of E7 and E8,and then confirmed as SMA by MLPA.Conclusion The SMA population in Linyi area has a high carrying rate,large-scale screening has important clinical application value for prevention,diagnosis and treatment,especially for children with related clinical symptoms,which is an indispensable test item.

关 键 词：临沂地区 脊髓性肌萎缩症 荧光定量PCR 基因筛查 

分 类 号：R746.4[医药卫生—神经病学与精神病学]