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目的了解儿童期发作的进行性脊髓性肌萎缩（ＳＭＡ）患者的运动神经元存活基因（ＳＭＮ）的缺失，探讨聚合酶链反应限制性片段长度多态性（ＰＣＲＲＦＬＰ）技术用于检测ＳＭＡ疾病的诊断价值。方法应用ＰＣＲＲＦＬＰ技术对１０例拟诊为ＳＭＡ患者、６个家系的２０例非ＳＭＡ成员及３０例正常人的ＳＭＮ基因外显子７和８进行了检测。结果１０例ＳＭＡ可疑患者中９例（９０％）有ＳＭＮ基因缺失，其中仅外显子７或８缺失各为１例。家系其他成员及对照组均无ＳＭＮ端粒基因缺失。结论用ＰＣＲＲＦＬＰ法对高度可疑ＳＭＡ的病例进行诊断，具有较高敏感性和特异性，简便易行
Objective To investigate the loss of motor neuron survivin gene (SMN) in patients with progressive spinal muscular atrophy (SMA) during childhood onset and to explore the application of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Diagnostic value of SMA disease. Methods PCR-RFLP was used to detect exon 7 and 8 of SMN gene in 10 SMA patients, 6 non-SMA members in 6 families and 30 healthy controls. Results Nine of 10 (90%) SMA suspicious patients had SMN gene deletion, of which only one deletion was found in exon 7 or 8. Other members of the pedigree and control group had no SMN telomere deletion. Conclusion PCRRFLP method for the diagnosis of highly suspicious cases of SMA, with high sensitivity and specificity, simple and easy