摘要
目的:探讨育龄妇女中运动神经元存活基因1(SMN1)拷贝数变异的携带率,并对高风险人群产前诊断结果进行分析。方法:采用荧光定量PCR(QPCR)技术检测7558例育龄妇女SMN1基因的7号和8号外显子拷贝数变异。采用QPCR技术联合多重连接探针扩增(MLPA)技术对高风险胎儿进行产前诊断。结果:7558例育龄妇女中,检测出SMN1基因E7和E8杂合缺失126例,单纯E7杂合缺失8例,携带率约1/57。筛查结果均为阳性的6对夫妻中,1对行三代试管,选择不致病胚胎植入;5对已孕行产前诊断,其中1例双胎,1胎为杂合缺失,1胎为纯合缺失,其余4例均为杂合缺失。25例SMA患儿生育史家庭产前诊断结果为10例正常,14例为杂合缺失携带者,1例为纯合缺失患者。结论:本组人群SMN1基因突变携带率为1/57,孕前或产前进行一级或二级预防,可阻止SMA患儿的出生,对预防和控制SMA相关出生缺陷具有重要意义。
Objective:To investigate the carrier rate of the gene copy number variant of the survival motor neuron 1(SMN1)in reproductive-aged women,and to analyze the results of the prenatal diagnosis of the women with the high-risk of spinal muscular atrophy(SMA)gene.Methods:The copy number variant of 7th exons(E7)and 8th exons(E8)of the SMNl gene of 7558 reproductive-aged women was detected by quantitative polymerase chain reaction(QPCR).The prenatal diagnosis of the fetuses with the high-risk of SMA were diagnosed by QPCR combined with the multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among 7558 reproductive-aged women,there were 126 cases with the heterozygous deletion of E7 and E8 of the SMN1 gene detected and 8 cases with the heterozygous deletion of E7 only,and with a carrier rate of approximately 1/57.Among 6 couples with the positive screening results of the deletion of E7 and E8,1 couple were given the three-generation in vitro fertilization to select the embryos without disease for implantation.Among the other 5 couples who had pregnant and undergone prenatal diagnosis,there was 1 woman with twins and 4 women with singleton pregnancy.And as for the woman with twins,there was 1 fetus with the heterozygous deletion and another fetus with the homozygous deletion.In 4 women with singleton pregnancy,there were 4 fetuses with the heterozygous deletion.Among 25 women with the family SMA children history,there were 10 cases with the normal results after antenatal diagnosis,14 cases with the heterozygous deletion carriers and 1 case with the homozygous deletion.Conclusion:The carrier rate of the SMNl gene mutation of the women in this study is approximately 1/57.The primary preventive measures in the prenatal stage and the secondary preventive measures in the prenatal stage for the women can prevent the birth of the children with SMA,which has important clinical significance for the prevention and the control of the SMA-related congenital defects.
作者
马鹏鹏
卢婉
刘艳秋
傅庆子
邹永毅
杨必成
MA Pengpeng;LU Wan;LIU Yanqiu;FU Qingzi;ZOU Yongyi;YANG Bicheng(Jiangxi Maternal and Child Health Care Hospital,Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control,Nanchang,Jiangxi Province,330000)
出处
《中国计划生育学杂志》
2024年第12期2939-2943,2968,共6页
Chinese Journal of Family Planning
基金
江西省卫生健康委普通科技计划(202310992)。
关键词
脊髓性肌萎缩症
运动神经元存活基因1
荧光定量PCR
携带者筛查
产前诊断
Spinal muscular atrophy
Survival motor neuron l
Fluorescent quantitative polymerase chain reaction
Carrier screening
Prenatal diagnosis
