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。
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.
作者
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
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;Cangzhou Central Hospital,Cangzhou 061000,Hebei Province,China;Nankai University College of Life Science,Tianjin 300071,China;Tianjin Taoyuan Street Community Health Service Center,Tianjin 300204,China)
出处
《国际妇产科学杂志》
CAS
2019年第2期189-193,共5页
Journal of International Obstetrics and Gynecology
基金
天津市卫计委科技基金(2015KR03)
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
Muscular atrophy
Polymerase chain reaction
SMN1 gene
Heterozygote detection
Chromosome aberrations
Prenatal diagnosis
