目的 建立小儿脊髓性肌萎缩 (SMA)的基因诊断方法。方法 应用错配聚合酶链反应—限制性片段长度多态性技术对7例临床诊断的SMA患儿及21名健康儿童运动神经元存活 (SMN)基因进行检测。结果 7例患儿的SMN基因外显子7均有缺失。正常人SMN基因均未缺失。结论 使用错配聚合酶链反应—限制性片段长度多态性技术对SMA患儿进行基因诊断 ,简便易行 ,结果可靠 Objective To establish a method for gene diagnosis of pediatric spinal muscular atrophy (SMA). Methods Mismatched polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the motor neuron survival (SMN) gene in 7 clinically diagnosed SMA children and 21 healthy children. Results All seven cases had deletion of exon 7 of SMN gene. None of the normal human SMN genes are deleted. Conclusions Mismatch PCR - restriction fragment length polymorphism (PCR-RFLP) was used to diagnose SMA in children, which was simple and easy to perform and reliable