萍乡市育龄妇女脊髓性肌萎缩症SMN1基因突变发生率及分布特征  

Prevalence and distribution characteristics of SMN1 gene mutation of spinal muscular atrophy in women of childbearing age in Pingxiang City

作　　者：欧阳宁 钟丽群 李彦琳 陈海萍 何蓉 刘红宇 OUYANG Ning;ZHONG Li-qun;LI Yan-lin;CHEN Hai-ping;HE Rong;LIU Hong-yu(Department of Medical Genetics,Pingxiang Maternal and Child Health Hospital,Pingxiang,Jiangxi 337000,China;不详)

机构地区：[1]萍乡市妇幼保健院医学遗传科,江西萍乡337000 [2]萍乡市妇幼保健院孕期保健科 [3]萍乡市妇幼保健院妇科 [4]萍乡市妇幼保健院遗传实验室

出　　处：《中国妇幼保健》2024年第11期2075-2078,共4页Maternal and Child Health Care of China

基　　金：江西省卫生健康委科技计划项目(SKJP220211053)。

摘　　要：目的评估萍乡市育龄妇女脊髓性肌萎缩症(SMA)运动神经元存活基因1(SMN1)突变发生率及分布特征。方法选取2022年1月—2023年5月在萍乡市进行产前检查的1741例孕妇及46名配偶作为研究对象,使用聚合酶链式反应(PCR)-熔解曲线法检测SMN1基因外显子7(E7)和外显子8(E8)的拷贝数。结果1741例孕妇中,SMN1基因异常46例(2.64%,1∶37),其中E7单独杂合缺失3例(0.17%,1∶580),E8单独杂合缺失9例(0.52%,1∶193),E7和E8同时杂合缺失34例(1.95%,1∶51),对上述孕妇均进行复检,阳性筛查率仍为100.00%。46名配偶被召回检测,其中2对夫妇均存在E7杂合缺失,2例孕妇均接受产前胎儿SMA诊断,1例胎儿正常(继续妊娠),1例SMA患儿(E7和E8纯合缺失,终止妊娠),其余胎儿均继续妊娠。结论积极筛查萍乡市育龄妇女SMN1基因异常的发生率及分布特征,联合对高危胎儿进行产前诊断,可有效避免SMA患儿的出生。Objective To evaluate the incidence rate and distribution characteristics of survival motor neuron gene 1(SMN1)mutation of spinal muscular atrophy(SMA)in women of childbearing age in Pingxiang City.Methods A total of 1741 pregnant women and 46 spouses who underwent prenatal testing in Pingxiang City from January 2022 to May 2023 were selected as study subjects,and the copy numbers of exon 7(E7)and exon 8(E8)of SMN1 gene were detected by polymerase chain reaction(PCR)-melting curve method.Results Among 1741 pregnant women,46 cases(2.64%,1∶37)had abnormal SMN1 gene,including 3 cases(0.17%,1∶580)of E7 heterozygosity deletion,9 cases(0.52%,1∶193)of E8 heterozygosity deletion,and 34 cases(1.95%,1∶51)of E7 and E8 heterozygosity deletion.After re-examination,the positive screening rate was still 100.00%.A total of 46 spouses were recalled for testing,including 2 couples with E7 heterozygous deletion,2 pregnant women underwent prenatal fetal SMA screening,1 normal fetus(continuation of pregnancy)and 1 child with SMA(E7 and E8 homozygous deletion,termination of pregnancy)were found.All the other fetuses continued to conceive.Conclusion Actively screening of incidence rate and distribution characteristics of SMN1 gene abnormality in women of childbearing age in Pingxiang City,combined with prenatal diagnosis of high-risk fetuses,can effectively avoid the birth of SMA children.

关 键 词：育龄妇女 脊髓性肌萎缩症 运动神经元存活基因1 产前诊断 萍乡市 

分 类 号：R715.5[医药卫生—妇产科学]