儿童脊髓性肌萎缩症的基因诊断  

Gene Diagnosis of Spinal Muscular Atrophy in Children

作　　者：梁国安[1] 周柏林[2] 余钟声[2] 

机构地区：[1]浙江省台州医院,浙江台州317000 [2]浙江大学医学院附属儿童医院,杭州310003

出　　处：《实用儿科临床杂志》2005年第10期1011-1012,i0002,共3页Journal of Applied Clinical Pediatrics

摘　　要：目的探讨儿童脊髓性肌萎缩症(SMA)的特异性基因诊断方法。方法应用聚合酶链反应-限制性片段长度多态性(PCR—RFLP)技术.对19例临床诊断为SMA患儿及21名健康儿童的运动神经元存活(SMN)基因进行检测。结果SMA患儿SMN基因的第7和第8号外显子均缺失,健康儿童SMN基因的第7和第8号外显子均未缺失。结论检测SMN基因第7和第8号外显子缺失的方法可用于SMA的基因诊断,且PCR—RFLP技术对SMA的诊断具有较高的特异性和敏感性。Objective To establish a gene diagnosis assay for spinal muscular atrophy（SMA） in children. Method Analysis of the survival motor neuron （SMN） gene in 19 SMA patients and in 21 normal controls were performed by using polymerase chain reaction - fragment length polymorphism （PCR - RFLP） method. Result Deletion of exon 7and 8 in SMNt gene were found in all 19 SMA patients, while no such changes were found in normal controls, Conclusion The SMNt gene exon 7 and 8 examine can be applied to SMA gene diagnosis, and the PCR - RFLP method have higher sensitivity and particularity to the SMA diagnosis.

关 键 词：脊髓性肌萎缩 运动神经元 基因 

分 类 号：R744[医药卫生—神经病学与精神病学]