儿童型脊髓性肌萎缩症的基因诊断(附10例报告)  

Genetic diagnosis of spinal muscular atrophy in children

作　　者：张颖莹[1] 孔祥东[1] 史惠蓉[1] 王怀立[1] 

机构地区：[1]郑州大学第一附属医院妇产科,郑州450052

出　　处：《陕西医学杂志》2007年第2期163-165,共3页Shaanxi Medical Journal

基　　金：郑州市重点科技攻关项目(04BA60ABYC01)

摘　　要：目的:建立儿童型脊髓性肌萎缩症(SMA)的特异性基因诊断平台。方法:应用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术,对10例临床诊断为SMA的患儿及15例正常个体的运动神经元存活(SMN)基因第7、第8号外显子进行检测。结果:10例SMA患儿的SMN基因第7、第8外显子全部缺失,而15例正常个体均无SMN基因第7、第8外显子的缺失。结论:应用PCR-RFLP技术对儿童型脊髓性肌萎缩症患儿进行基因诊断具有高度的敏感性和特异性,可作为SMA的诊断方法。Objective:To establish a genetic diagnosis assay for spinal muscular atrophy(SMA)in children.Methods:Analysis of the survivial motor neuron(SMN)gene in 10 SMA patients and in 15 normal controls was performed by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method.Result:Deletion of exon 7 and 8 in SMN gene was detected in all 10 SMA patients,while no such change was found in normal controls.Conclusion:PCR-RFLP is sensitive,specific and simple indetecting the deletion of SMN genefor the genetic diagnosis of SMA in children.

关 键 词：脊髓性肌萎缩 儿童/诊断 聚合酶链反应 

分 类 号：R[医药卫生]