脊髓性肌萎缩症的快速基因诊断研究

Rapid Gene Diagnosis of Spinal Muscular Atrophy

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 survival motor neuron gene (SMN) of proximal spinal muscular atrophy (SMA) in Chinese patients and the feasibility of clinical application of a PCR enzyme digestion method for the diagnosis of this disease. Methods Using PCR method to detect the deletions of exon 7 and exon 8 of telomere of survival motor neuron gene (SMN1) in 26 SMA patients and 20 healthy controls. Results Compared with 20 normal controls; 26 of 26 SMA patients (100%) and 25 of 26 patients (96%) lacked the SMN1 gene exon 7 and exon 8, respectively. Conclusion Detection of SMN1 gene deletions with the PCR enzyme digestion method can be served to diagnose SMA patients accurately and quickly.