Analysis of spinal muscular atrophy carrier screening and prenatal diagnosis of 1 241 preg-nant women in Pingxiang area
Objective To investigate the mutation carrier rate of human motor neuron survival gene 1(SMN1)and analyze the clinical significance of prenatal diagnosis of SMA in 1 241 pregnant women in Pingxiang area.Methods PCR technique was used to detect the deletion of exon 7 and exon 8(E7,E8)of SMN1 gene in 1 241 pregnant women.The husbands of pregnant women carrier were also screened,and prena-tal genetic analysis was provided for the couples with both positive results.The results were further confirmed by multiplex ligation-dependent probe amplification(MLPA).Results Among 1241 pregnant women,a to-tal of 16 SMA carriers were detected,including 15 cases of simultaneous heterozygosity deletion of E7 and E8,and 1 case of single heterozygosity deletion of E7,with a carrying rate of 16/1241(1.29%).One pair of both spouses were found to be SMA carriers.It was finally confirmed that the fetus had homozygous deletion of SMN1 gene E7 and E8 by MLPA technique.Conclusion SMA carrier screening can screen high-risk fetus-es and effectively prevent the birth of SMA children with SMA.It is of great significance to the prevention and control of birth defects and reducing family economic and mental burdens.
Spinal muscular atrophySMN1geneCarrier screeningPrenatal diagnosisPingx-iang area
NETL
NSTL
万方数据
维普
