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目的研究我国近端型脊髓性肌萎缩症（ＳＭＡ）患者的运动神经元生存基因（ＳＭＮ）外显子的缺失情况，探讨其快速基因诊断的可行性和临床应用价值。方法应用ＰＣＲ－酶切法检测２６例确诊的ＳＭＡ患者及２０名正常对照ＳＭＮ基因的第７、８号外显子的缺失情况。结果在２６例及２５例患者中，分别发现缺失了端粒ＳＭＮ基因（ＳＭＮ１）的第７和８号外显子，缺失率达１００％（２６／２６）和９６％（２５／２６），而正常对照及患者的家系成员均未发现外显子缺失。结论应用ＰＣＲ－酶切法检测ＳＭＮ１基因缺失从而进行ＳＭＡ患者的基因诊断，具有准确、简便和快速的优点。
Objective To study the deletion of exon of motor neuron survival gene (SMN) in patients with proximal spinal muscular atrophy (SMA) in China and to explore the feasibility and clinical value of rapid gene diagnosis. Methods The deletion of exons 7 and 8 of SMN gene in 26 SMA patients and 20 normal controls was detected by PCR-restriction enzyme digestion. Results The deletion of exon 7 and exon 8 in SMN1 (100% (26/26) and 96% (25/26), respectively) was found in 26 and 25 patients, respectively. However, No deletions were found in normal controls and in members of the pedigree. Conclusion It is accurate, easy and rapid to use PCR-enzyme digestion to detect the gene deletion of SMN1 gene in SMA patients.