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- W2374863236 abstract "Objective:To investigate methods for prenatal diagnosis of spinal muscular atrophy. Methods:The umbilical cord blood of 2 fetuses with SMA positive family history was collected, then exon 7 of telomeric survial motor neuron(SMNt) gene was detected by using the technique of mismatching polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Normal member and SMA patient were selected as controls, at the same time the umbilical cord blood from 10 fetuses without heredofamilial history had also been detected. Results:In 2 fetuses, one was detected homozygous deletion of the SMNt exon 7, so was diagnosed as positive and the pregnancy was terminated, the other wasn't detected homozygous deletion of the SMNt exon 7. The pedigree diagnosed as negative continued to pregnancy, and gave birth to a normal baby. No homozygous deletion was found in 10 fetuses. Conclusion:Detecting the deletion of SMNt gene based on umbilical cord blood could be recommended as a rapid and reliable method for prenatal diadnosis of SMA." @default.
- W2374863236 created "2016-06-24" @default.
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- W2374863236 date "2005-01-01" @default.
- W2374863236 modified "2023-09-23" @default.
- W2374863236 title "Prenatal diagnosis of spinal muscular atrophy based on umbilical cord blood" @default.
- W2374863236 hasPublicationYear "2005" @default.
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