运动神经元生存基因拷贝数定量分析在Ⅲ型脊髓性肌萎缩症基因诊断中的应用  

Application of quantitative analysis of survival motor neuron copy number in gene diagnosis for type Ⅲ spinal muscular atrophy

作　　者：张进[1] 吴志国[1] 肖波[1] 杨晓苏[1] 丁华新[1] 

机构地区：[1]中南大学湘雅医院神经内科,湖南省长沙市410008

出　　处：《中国临床康复》2004年第20期4012-4013,共2页Chinese Journal of Clinical Rehabilitation

基　　金：国家自然科学基金资助项目(30170330)~~

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。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.

关 键 词：儿童脊髓性肌萎缩 聚合酶链反应 遗传学技术 

分 类 号：R349.83[医药卫生—基础医学]