常州地区5302例育龄妇女脊髓肌萎缩症筛查结果分析  

Analysis on screening results of spinal muscular atrophy in 5302 women of childbearing age in Changzhou

作　　者：贾陈波 袁小松[1] 张玢[1] 陈文仪 JIA Chenbo;YUAN Xiaosong;ZHANG Bin;CHEN Wenyi(Department of Medical Genetics,Changzhou Maternity and Child Health,Care Hospital Affiliated to Nanjing Medical University,Changzhou 213000,Jiangsu,China)

机构地区：[1]南京医科大学附属常州市妇幼保健院医学遗传科,江苏常州213000

出　　处：《右江医学》2022年第5期359-363,共5页Chinese Youjiang Medical Journal

摘　　要：目的 评估常州地区脊髓肌萎缩症(spinal muscular atrophy, SMA)运动神经元存活基因(SMN1)缺失的携带率及筛查效率。方法 应用荧光定量PCR对2019年7月至2021年6月5302例育龄妇女进行SMN1基因E7和E8的拷贝数检测。结果 113例育龄妇女SMN1基因存在杂合缺失(113/5302,2.13%),其中87例E7和E8同时缺失(87/5302,1.64%),24例E8单独缺失(24/5302,0.45%),2例E7单独缺失(2/5302,0.04%);85名伴侣被召回检测,发现2对夫妇均存在E7杂合缺失,2例孕妇接受产前诊断,最终确诊1例SMA胎儿。结论 常州地区SMN1基因杂合缺失发生率与已报道的汉族人群相近,荧光定量PCR可以用于SMA携带者筛查。Objective To evaluate the carrying rate and screening efficiency of survival motor neuron gene(SMN1) deletion in spinal muscular atrophy(SMA) in Changzhou. Methods Fluorescence quantitative PCR was used to detect the copy numbers of E7 and E8 of SMN1 gene in 5302 women of childbearing age from July 2019 to June 2021. Results There were 113 cases with heterozygous deletion in those women(113/5302, 2.13%), including 87 cases of simultaneous loss of E7 and E8(87/5302, 1.64%), 24 cases of single deletion of E8(24/5302, 0.45%) and 2 cases of single deletion of E7(2/5302, 0.04%). 85 partners were recalled for detection, and it was found that 2 couples had E7 heterozygous deletion, 2 pregnant women underwent prenatal diagnosis, and 1 SMA fetus was diagnosed finally. Conclusion The incidence of loss of heterozygosity of SMN1 gene in Changzhou is similar to that of the reported Han population, and fluorescent quantitative PCR can be used to screen SMA carriers.

关 键 词：脊髓肌萎缩症 SMN1蛋白 出生缺陷防治 携带频率 

分 类 号：R715.5[医药卫生—妇产科学]