摘要
目的:分析南充地区脊髓性肌萎缩症(SMA)携带者筛查及高风险胎儿产前诊断。方法:选取4325例定期产检且因不良妊娠史就医的育龄期女性及183名配偶为研究对象。采用荧光定量聚合酶链式反应(QF-PCR)法检测运动神经元存活基因1(SMN1)7号外显子(E7)的拷贝数。E7拷贝数1为携带者,对夫妻双方均是SMA携带者应用多重连接探针扩增技术(MLPA)验证胎儿SMN1基因拷贝数变异。结果:共检测到SMA携带者70例,携带率为1/64.4,其中E7和8号外显子(E8)双位点杂合缺失的64例(1/70.4),E7位点杂合缺失6例(1/751.3)。对夫妻双方均为杂合性缺失胎儿基因检测发现,胎儿SMN1基因为0个拷贝数,运动元存活基因2(SMN2)为3个拷贝数,最终通过遗传咨询预防了SMA患儿的出生。结论:南充地区SMA的携带率为1/64.4,QF-PCR检测结合MLPA家系验证,并对高风险胎儿进行产前诊断,对减少SMA患儿的出生具有重要诊断价值,对本地区出生缺陷防控有重要的意义。
Objective:To analyze the carrying rate of spinal muscular atrophy(SMA)and prenatal diagnosis of high-risk fetus in Nanchong area.Methods:4,325 women of childbearing age who underwent regular prenatal examinations and sought medical attention due to adverse pregnancy history and 183 spouses were selected as the research subjects.The copy number of exon 7 of survival motor neuron(SMN1)gene was detected by real-time fluorescence PCR(QF-PCR),E7 copy number 1 was carrier,the SMN1 gene copy number variation of fetal was verified by multiplex ligation-dependent probe amplification(MLPA)method.Results:A total of 70 SMA carriers were detected in this study,with a carrying rate of 1/64.4,among which 64 cases(1/70.4)were heterozygote missing at E7 and E8,and 6 cases(1/751.3)were heterozygote missing at E7.Detection of SMN1 gene in a fetus with loss of heterozygosity in both husband and wife and it was found that the fetus had 0 copies of SMN1 gene and 3 copies of SMN2 gene.Finally,genetic counseling was used to prevent the birth of SMA children.Conclusion:The carrying rate of SMA in Nanchong area is 1/64.4,QF-PCR detection combined with MLPA for family verification of SMA patients and prenatal diagnosis of high-risk fetuses have important diagnostic value for reducing the birth of SMA children and for the prevention and control of birth defects in this region.
作者
陈丽平
何勇均
蔡燕
石琪
CHEN Li-ping;HE Yong-yun;CAI Yan;SHI Qi(Center for Genetics and Prenatal Diagnosis,Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China;Department of Obstetrics and Gynecology,Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan,China)
出处
《川北医学院学报》
CAS
2023年第6期777-779,788,共4页
Journal of North Sichuan Medical College
基金
吴阶平医学基金会项目(320.6750.2020-06-53)。
