聚合酶链反应用于进行性脊髓性肌萎缩的诊断

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（ＰＣＲＲＦＬＰ）技术用于检测ＳＭＡ疾病的诊断价值。方法应用ＰＣＲＲＦＬＰ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ＰＣＲＲＦＬＰ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

Diagnosis of progressive spinal muscular atrophy by using polymerase chain reaction

Objective To understand the deletion in the survival motor neuron gene (SMN) with childhood onset spinal muscular atrophy (SMA) in Chinese, and the value of diagnosis in SMA disease by using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) method. Methods Deletions of SMN gene of exon 7 and 8 in 10 cases of presumed SMA, and 20 normal control from 6 families and 30 unrelated controls were performed by PCR RFLP analysis. Results Deletions of SMN gene were detected in 9 of 10 (90%) cases of presumed SMA, only 1 case lack exon 7 or 8, respectively. No deletions of SMN in the telomeric were found in the other numbers of families and controls. Conclusion It is sensitive, specific and simple by using PCR RFLP to diagnose patients who had suspected SMA.