Conclusion: PCR-RFLP is sensitive, specific and simple indetecting the deletion of SMN genefor the genetic diagnosis of SMA in children.

• 结论：应用PCR-RFLP技术对儿童型脊髓性肌萎缩症患儿进行基因诊断具有高度的敏感性和特异性，可作为SMA的诊断方法。