李宁 沈定国 100853 北京,中国人民解放军总医院肌病研究室 中华神经科杂志 1998 0 31 6


    关键词：肌萎缩；脊髓性；诊断；基因； 期刊 zhsjkzz 0 论著 fur -->


    

【摘要】 目的 建立进行性脊髓性肌萎缩症(SMA)的特异性基因诊断方法。方法 采用不对称聚合酶链反应(PCR)方法扩增运动神经元生存(SMN)基因，并结合单链构象多态性(SSCP)分析方法分析该基因的变异和缺失。结果 37例SMA患者中SMN基因外显子7缺失者占92%(34/37)，外显子8缺失者占89%(33/37)，3%(1/37)的患者外显子7缺失而保留外显子8；患者家属及正常对照SMN基因均未见缺失(0/40)。结论 建立的PCR-SSCP分析方法特异性及敏感性很高，可以用来对SMA患者进行基因诊断。

    Development of genetic diagnostic assay on spinal muscularatrophy Li Ning, Shen Dingguo. Division of Neuromuscular Disorders Research, The General Hospital of Chinese PLA, Beijing 100853

    【 Abstract】 Objective To develop a genetic diagnosisassay to detect spinal muscular atrophy(SMA) patients. Methods Using the asymmetrical polymerasechain reaction(PCR) and single strand conformation polymorphism(SSCP) assays, we developeda genetic diagnostic assay to detect the deletion of survival motor neuron(SMN) gene inthe Chinese SMA patients. Results A total of 37 SMA patients and 20 cases of the normalcontrols and 20 cases of the SMA patients' parents were analyzed. The exons 7 and 8 of SMNgene were found to be deleted in 92%(34/37) and 89%(33/37) patients respectively. 3%(1/37)SMA patients lacked the exon 7 but retained exon 8. No deletion was found in thecontrols(0/40). Conclusions The results indicated that the assays utilized were highlysensitive and specific ......