成人型脊髓性肌萎缩症的基因研究

Studies of Smn,Naip Gene in Adult-OnsetT Spinal Muscular Atrophy

目的 :研究我国成人型脊髓性肌萎缩症 (SMA)患者的运动神经元生存基因 (SMN)及神经细胞凋亡抑制蛋白 (NAIP)基因外显子的缺失情况 ,以探讨此二种基因与成人型SMA之间的关系。方法 :应用PCR法检测 30例成人型SMA患者、30例表型正常的SMA直系亲属及 30例正常对照的SMN基因第7、8号外显子和NAIP基因第 5、6号外显子缺失情况。结果 :成人型 (IV型 )SMA未检测到SMN基因第 7、8号外显子及NAIP基因外显子 5和 (或 ) 6的缺失。结论 :成人型SMA未检测到SMN基因缺失 ,其发病可能与SMN基因缺失无关 ;NAIP基因在SMA发病中的作用尚不清楚 ,有待进一步研究。

Objective: To study the absence of survival motor neuron(SMN) gene exon 7,8 and neuronal apoptosis inhibitory protein(NAIP) gene exon 5,6 in Chinese patients with adult-onset SMA, and to confirm the relationship between the deletions of SMN , NAIP and SMA phenotype. Methods:PCR and PCR-enzyme methods were used to detect the deletions of NAIP gene exon 5,6 and SMN gene exon 7,8 in 30 SMA (adult-onset) patients and 30 healthy relatives and 30 normal controls. Results:No deletions of SMN gene (exon 7,8) and NAIP gene (exon 5,6) was detected in all patients?healthy relatives and controls.Conclusion:adult-onset SMA ,a heterogeneous disease with phenotypical similarities to I～III SMA ,may be caused by other genes . The frequency of NAIP deletion was lower in Chinese SMA patients