连云港地区1266例孕妇脊髓性肌萎缩症携带者筛查及产前诊断  

Carrier screening and prenatal diagnosis for spinal muscular atrophy in 1266 pregnant women from Lianyungang area

作　　者：尹婷[1] 章荣[1] 郑安舜[1] 谭娟[1] 汤欣欣[1] 王雷雷[1] YIN Ting;ZHANG Rong;ZHENG Anshun;TAN Juan;TANG Xinxin;WANG Leilei(Lianyungang Maternal and Child Health Care Hospital,Lianyungang,Jiangsu 222000,China)

机构地区：[1]江苏省连云港市妇幼保健院,江苏连云港222000

出　　处：《中国优生与遗传杂志》2023年第2期324-327,共4页Chinese Journal of Birth Health & Heredity

基　　金：连云港市妇幼健康项目(F202009);连云港市妇幼健康项目(F202008)。

摘　　要：目的对连云港地区1266例孕妇进行脊髓性肌萎缩症(SMA)携带者筛查,统计SMA携带者在本地区人群中的携带率。针对生育SMA患儿的高风险夫妇进行产前诊断,预防SMA出生缺陷。方法收集2020年1月至2022年6月来我院进行SMA携带者筛查的孕妇共1266例样本,应用荧光定量PCR法检测SMN1基因第7、8号外显子(E7、E8)的拷贝数,筛选SMA携带者。对于双方均为SMA携带者的高风险夫妇,采用多重连接依赖探针扩增技术(MLPA)进行家系验证和产前诊断。结果1266例孕妇中有25例携带者(E7、E8杂合缺失18例,E7杂合缺失7例),携带率为1.97%。检出双方均为携带者的夫妇1对,对高风险胎儿进行产前诊断,结果为E7、E8杂合缺失。结论初步阐明连云港地区SMN1基因突变携带率,可以为遗传咨询及预防出生缺陷工作提供指导,对减少该疾病的发生具有重要的意义。Objective To perform carrier screening for spinal muscular atrophy(spinal muscular atrophy,SMA)among 1266 pregnant women from Jiangsu province and determine the carrier frequency of this region.Prenatal diagnosis for high-risk couples to prevent SMA birth defects.Methods A total of 1266 samples of pregnant women who came to our hospital for screening SMA carriers from January 2020 to June 2022 were collected.Real-time quantitative PCR(qPCR)was used to detect the copies of exon 7 and 8(E7,E8)of SMN1 gene and multiplex ligation-dependent probe amplification(MLPA)was used to family verification and prenatal diagnosis for high-risk couples whom were both SMA carriers.Results A total of 25pregnant women(18 cases of E7,E8 heterozygous deletion,7 cases of E7 heterozygous deletion)were identified as carriers in 1266 women,and the carrier rate was 1.97%.A couple with both SMA carriers were detected,and the result of prenatal diagnosis for their fetus showed that E7,E8 heterozygous deletion.Conclusion Elucidating the SMN1 gene mutation carrier rate in Lianyungang area can provide guidance for genetic counseling and may reduce the rate of SMA affected births.

关 键 词：脊髓性肌萎缩症 荧光定量PCR 多重连接依赖探针扩增技术 SMN1基因 携带者筛查 

分 类 号：R714.5[医药卫生—妇产科学]