运动神经元存活基因对进行性脊肌萎缩症的诊断价值  

The diagnosis value of SMN gene deletions in progressive spinal muscular atrophy

作　　者：吴芳玲[1] 沈鸣九[2] 周小平 姚娟[2] 张晓东[4] 何祚光[5] 王颖[2] 陈伟贤[2] 李宏均 侯熙德[2] 

机构地区：[1]上海铁道大学医学院附属甘泉医院神经内科,上海200065 [2]南京医科大学第一附属医院神经内科,江苏南京210029 [3]镇江市第一人民医院神经内科,江苏镇江212002 [4]南京市儿童医院神经内科,江苏南京210008 [5]南京医科大学第二附属医院神经内科,江苏南京210029

出　　处：《中风与神经疾病杂志》2000年第2期96-97,共2页Journal of Apoplexy and Nervous Diseases

摘　　要：目的　评价运动神经元存活基因 (Survival Motor Neuron Gene SMN)缺失检测对进行性脊肌萎缩症(Spinal Muscular Atrophy,SMA)的诊断价值。方法　采用错配聚合酶链反应、限制性片断长度多态性分析方法对9例确诊为 、 、 型 SMA患者及 31例家系、6 0例正常对照组进行 SMN基因外显子 7、8的缺失检测。结果　患者组 8例示 SMN基因外显子 7、8等位缺失 ,1例仅外显子 8等位缺失 ,患者家系组示 1例 型 SMA患儿的母亲无症状外显子 8等位缺失 ,余 30例无 SMN基因的缺失突变 ,正常对照 6 0例 ,均无 SMN基因的缺失突变。结论　PCR- RFL P方法用于检测 SMN基因 7、8外显子等位缺失 ,方法简单 ,结果可靠 ,可作为儿童期发病的 SMA的实验室诊断方法。Objective To investigate the diagnosis value of SMN gene deletions in progressive spinal muscular atrophy. Methods Mismatch PCR(Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism) methods were used to detect the homozygous deletion of the exon 7 or exon 8 of SMN gene in 9 SMA patients of typeⅠ,Ⅱ,Ⅲ and 3l of their families and 60 normal individuals. Results Homozygous deletions of the SMN gene exon 7 and exon 8 were identified in 8 patients and only the exon 8 was deletion in the other patient. One of the 31 patients families expressed homozygous deletions of the SMN gene exon 8. No deletions were found in the others and normal controls. Conclusion It is sensitive,specific and simple by using PCR RFLP method to diagnose the patients who was suspected SMA of typeⅠ,Ⅱ,Ⅲ.

关 键 词：进行性脊肌萎缩症 运动神经元 存活基因 诊断 

分 类 号：R746.404[医药卫生—神经病学与精神病学]