【摘要】 目的:探讨运动神经元生存基因(survivalmotorneuron,SMN)拷贝数定量分析在提高Ⅲ型儿童型脊髓性肌萎缩症(spinalmuscularatrophy,SMA)的基因诊断的临床价值。方法:应用定量聚合酶链式反应(PCR)进行SMN拷贝数定量分析,对8例Ⅲ型SMA患者及5例正常人的SMN基因7号外显子的拷贝数定量。结果:8例Ⅲ型SMA患者中发现1例患者的SMN-T拷贝数为0,为纯合缺失,3例患者SMN-T拷贝数为1,为杂合缺失,总缺失诊断率为50%(4/8);所有正常人SMN-T拷贝数均为2。结论:SMN拷贝数定量分析可提高Ⅲ型SMA患者的基因诊断率。更多还原

【Abstract】 AIM:To explore the clinical value of quantitative analysis of survival motor neuron(SMN) copy number in improving the gene diagnosis for type Ⅲ spinal muscular atrophy. METHODS:Quantitative PCR analysis was used to determine the copy number of exon 7 of SMN in 8 patients with type Ⅲ SMA and 5 normal subjects. RESULTS:The SMN T copy number was 0 (homozygous deletion) in 1 case and 1 (hemizygous deletion) in 3 cases among the 8 patients with type Ⅲ SMA, and the diagnostic rate of total deletion was 50%(4/8); while the SMN T copy number was 2 in all normal subjects. CONCLUSION:The quantitative analysis of SMN copy number can improve the gene diagnostic rate for type Ⅲ SMA patients.更多还原