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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 evaluate the diagnostic value of the deletion of Survival Motor Neuron Gene (SMN) gene in Spinal Muscular Atrophy (SMA). Methods Mismatched polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) were used to detect the deletion of exon 7 and exon 8 of SMN gene in 9 patients with SMA, 31 patients with SMA, and 60 healthy controls. Detection. Results 8 cases of patients with SMN gene exon 7,8 allele deletion, 1 case only exon 8 allele deletion, the patient family showed 1 case of SMA in children with asymptomatic exon 8 allele deletion, The remaining 30 cases without SMN gene deletion mutation, the normal control 60 cases, no SMN gene deletion mutation. Conclusion The PCR-RFLP method can be used to detect the exon 7 and 8 deletions in SMN gene. The method is simple and reliable. It can be used as a laboratory diagnostic method for childhood SMA.