SMN基因诊断小儿脊髓性肌萎缩症

目的了解儿童期发作的进行性脊髓性肌萎缩(SMA)患者的运动神经元存活基因(SMN)的缺失,探讨聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法用于SMA疾病的诊断价值。方法应用PCR-RFLP方法对3例SMA可疑患儿及其父母5例的SMN1基因外显子7和8进行了检测,并对其进行基因测序。结果3例SMA可疑患儿中3例均有SMN1基因缺失,为外显子7和8联合缺失。其父母均无SMN1基因缺失。基因测序支持诊断。结论用PCR-RFLP法对高度可疑儿童型SMA的病例进行诊断,具有较高敏感性和特异性,简便易行。

SMN gene diagnosis of spinal muscular atrophy in children

Objective To investigat the deletion in the survival motor neuron (SMN) gene with childhood-onset progressive spinal muscular atrophy (SMA), explore the value of diagnosis in SMA disease by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Methods SMN1 gene of exon 7 and exon 8 in 3 suspected SMA children, and their 5 parents were detected by PCR-RFLP method. Also, PCR products were sequenced. Results Gene deletion of SMN1 was found in 3 of 3 suspected SMA children, deletion in both exon 7 and exon 8. No deletion of SMN1 gene was found from their parents. Diagnosis was supported by gene sequencing. Conclusion PCR-RFLP is more sensitive, specific and simple to diagnose children who are highly suspected childhood type SMA.