单链构象多态技术检测脊髓性肌萎缩症基因缺失

Using polymerase chain reaction single strand conformation polymorphism to detect SMN T gene deletions and to confirm clinical diagnosis of spinal muscular atrophy in Chinese

目的探讨中国人脊髓性肌萎缩症（ＳＭＡ）基因诊断的可行性。方法应用聚合酶链反应单链构象多态（ＰＣＲＳＳＣＰ）技术研究来自１６个家系的２０例ＳＭＡ患者及２０名正常对照的运动神经元生存（ＳＭＮ）基因的第７、８号外显子的缺失情况。结果２０例患者均缺失端粒ＳＭＮ（ＳＭＮＴ）基因的第７号外显子，１９例患者缺失第８号外显子，而正常对照均无外显子缺失。

Objective To study the feasibility of clinical application of detection of SMN T gene in Chinese patients diagnosed as spinal muscular atrophy (SMA). Methods Polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to detect the deletions of exons 7 and 8 of telomere of survival motor neuron (SMN T) gene in 20 SMA patients from 16 families and in 20 normal controls. Results 20 of 20 SMA patients (100%) lacked the SMN T exon 7, 19 of 20 SMA patients (95%) lacked the SMN T exon 8, while all of 20 normal controls without lack of the SMN T exons. Conclusion Direct identification of SMN T gene deletions could be recommended as an accurate and quick diagnostic method for patients with SMA.