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ＰＣＲＳＳＣＰ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。
Objective To develop a genetic diagnosis assay to detect spinal muscular atrophy(SMA) patients. Methods Using the asymmetrical polymerase chain reaction(PCR) and single strand conformation polymorphism(SSCP) assays, we developed a genetic diagnostic assay to detect the deletion of survival motor neuron(SMN) gene in the Chinese SMA patients. Results A total of 37 SMA patients and 20 cases of the normal controls and 20 cases of the SMA patients' parents were analyzed. The exons 7 and 8 of SMN gene 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 the controls(0/40). Conclusions The results indicated that the assays utilized were highly sensitive and specific, and the PCR SSCP analytic methods established could be of use to detect the deletion of SMN genes for the genetic diagnosis of SMA.
出处
《中华神经科杂志》
CAS
CSCD
1998年第6期345-47,共1页
Chinese Journal of Neurology
关键词
肌萎缩
脊髓性
诊断
基因诊断
Muscular atrophy, spinal Diagnosis, gene
