Gene Sequencing And Prenatal Diagnosis Of Spinal Muscular Atrophy

Objective: To understand the frequency of gene deletion and gene sequence of childhood-onset spinal muscular atrophy(SMA) in China, and investigate the value and feasibility of the prenatal diagnosis on SMA. A rapid and reliable method for prenatal diagnosis of SMA would be found for the final purpose.Methods: Exon 7 of telomeric survial motor neuron(SMNt) gene of one normal member and exon 7 of centromeric survial motor neuron(SMNc) gene of one SMA patient were selected to perform gene sequencing.The umbilical cord blood or amniotic fluid cells of 4 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).Results: The sequence lengths of the exons 7 of telomeric and centromeric SMN genes were both 187bp, and there was only one nucleotide difference between the two sequences ( T->C) , which was identical to foreign reports. In the two fetuses diagnosed by umbilical cord blood ,one was detected...