QF-PCR对孕妇SMN1基因筛查并应用于产前诊断

国际妇产科学杂志 ›› 2019, Vol. 46 ›› Issue (2): 189-192.

QF-PCR对孕妇SMN1基因筛查并应用于产前诊断

任晨春，郭东花，梁玥宏，王文靖，田秀英，崔洪艳，陈成彬，王玲红，杨微微，张海霞，李晓旭

300100 天津市中心妇产科医院（任晨春，梁玥宏，王文靖，田秀英，崔洪艳，王玲红，杨微微，张海霞）；沧州市中心医院（郭东花）；南开大学生命科学学院（陈成彬）；天津市桃园街社区卫生服务中心（李晓旭）

收稿日期:2019-01-09 修回日期:2019-02-17 出版日期:2019-04-15 发布日期:2019-04-15
通讯作者: 任晨春，E-mail：rccxqy@163.com E-mail:rccxqy@163.com
基金资助:
天津市卫计委科技基金（2015KR03）

The Screening and Prenatal Diagnosis for SMN1 Gene in Pregnant Women

REN Chen-chun, GUO Dong-hua, LIANG Yue-hong, WANG Wen-jing, TIAN Xiu-ying, CUI Hong-yan, CHEN Cheng-bin, WANG Ling-hong, YANG Wei-wei, ZHANG Hai-xia, LI Xiao-xu

Tianjin Central Hospital of Gynecology Obstetrics, Tianjin 300100, China（REN Chen-chun, LIANG Yue-hong, WANG Wen-jing, TIAN Xiu-ying, CUI Hong-yan, WANG Ling-hong, YANG Wei-wei, ZHANG Hai-xia）；Cangzhou Central Hospital, Cangzhou 061000, Hebei Province, China（GUO Dong-hua）；Nankai University College of Life Science, Tianjin 300071, China（CHEN Cheng-bin）；Tianjin Taoyuan Street Community Health Service Center, Tianjin 300204, China（LI Xiao-xu）

Received:2019-01-09 Revised:2019-02-17 Published:2019-04-15 Online:2019-04-15
Contact: REN Chen-chun, E-mail：rccxqy@163.com E-mail:rccxqy@163.com

摘要/Abstract

摘要： 目的：通过对孕妇人群中SMN1基因的第7以及第8外显子（E7、E8）缺失情况的筛查研究，建立起一种简便、准确、高通量、快速的产前筛查和诊断孕妇E7、E8缺失的方法，防止脊肌萎缩症（spinal muscular atrophy，SMA）患儿出生。方法：选择2014年12月—2017年10月就诊于天津市中心妇产科医院的孕中期妇女162例，采用荧光定量聚合酶链式反应法（QF-PCR）对孕妇进行SMN1基因E7、E8缺失情况筛查，对同为SMA携带者夫妇胎儿进行SMN1基因缺失检测，并用多重连接探针扩增技术（MLPA）验证。结果：在162例孕妇中共筛查出含有SMN1 E7杂合缺失的携带者6例，其中4例携带者配偶为E7和E8正常型，2例为E7和E8杂合缺失。夫妇双方均为SMA携带者的2例高危胎儿中，1例为E7、E8纯合缺失，1例为与其双亲相同的SMN1 E7、E8杂合缺失，与MLPA法检测结果相一致。结论：QF-PCR能够广泛应用于筛查SMA携带者孕妇，对避免出生缺陷具有重要的临床价值。

关键词: 肌萎缩, 聚合酶链反应, SMN1基因, 杂合子检测, 染色体畸变, 产前诊断

Abstract: Objective：By conducting screening studies on the deletion mutations in exon 7 and exon 8 (E7, E8) of SMN1 gene in pregnant women, an accurate, rapid, simple, and high-throughput prenatal screening and diagnosis of this gene locus was established. SMA patients can be prevented. Methods：QF-PCR was used to screen the deletion of SMN1 gene E7 and E8 in 162 cases of women in mid-pregnancy. When the spouses were carriers of SMA pathogenic genes, fetal DNA was extracted to detect SMN1 gene deletion. The high-risk fetal MLPA genetic diagnosis was performed at the same time. Results：A total of 162 pregnant women were screened and the presence of SMN1 E7 heterozygous carriers were found in 6 cases. As for the QF -PCR test results of the carriers′ spouses，4 cases showed that E7 and E8 were all normal and 2 cases showed loss of heterogeneity. As to the two high-risk fetus whose both parents were SMA carriers，amniotic fluid DNA testing suggested that 1 fetus had E7 and E8 homozygous deletion, and the other one showed loss of heterogeneity. The results of MLPA were same with QF-PCR. Conclusions：QF-PCR can be used in the screening and diagnosis of SMA patients in large pregnant population. It has great clinical value to prevent the birth of SMA children.

Key words: Muscular atrophy, Polymerase chain reaction, SMN1 gene, Heterozygote detection, Chromosome aberrations, Prenatal diagnosis

任晨春，郭东花，梁玥宏，王文靖，田秀英，崔洪艳，陈成彬，王玲红，杨微微，张海霞，李晓旭. QF-PCR对孕妇SMN1基因筛查并应用于产前诊断[J]. 国际妇产科学杂志, 2019, 46(2): 189-192.

REN Chen-chun, GUO Dong-hua, LIANG Yue-hong, WANG Wen-jing, TIAN Xiu-ying, CUI Hong-yan, CHEN Cheng-bin, WANG Ling-hong, YANG Wei-wei, ZHANG Hai-xia, LI Xiao-xu. The Screening and Prenatal Diagnosis for SMN1 Gene in Pregnant Women[J]. Journal of International Obstetrics and Gynecology, 2019, 46(2): 189-192.

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