Gene Diagnosis of Spinal Muscular Atrophy in Children / 实用儿科临床杂志

Objective To establish a gene diagnosis assay for spinal muscular atrophy(SMA) in children. Method Analysis of the survival motor neuron (SMN) gene in 19 SMA patients and in 21 normal controls were performed by using polymerase chain reaction - fragment length polymorphism (PCR - RFLP) method. Result Deletion of exon 7and 8 in SMNt gene were found in all 19 SMA patients, while no such changes were found in normal controls. Conclusion The SMNt gene exon 7 and 8 examine can be applied to SMA gene diagnosis, and the PCR- RFLP method have higher sensitivity and particularity to the SMA diagnosis.