Analysis of the screening results of spinal muscular atrophy gene carriers of reproductive-aged women and the prenatal di-agnosis results analysis of the women with high-risk spinal muscular atrophy gene
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 SMN1 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 di-agnosis,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 sin-gleton pregnancy,there were 4 fetuses with the heterozygous deletion.Among 25 women with the family SMA chil-dren history,there were 10 cases with the normal results after antenatal diagnosis,14 cases with the heterozygous de-letion carriers and 1 case with the homozygous deletion.Conclusion:The carrier rate of the SMN1 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 im-portant clinical significance for the prevention and the control of the SMA-related congenital defects.
万方数据
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