我们运用错配 PCR- RFLP方法对脊髓性肌萎缩症 ( SMA)患者和对照组进行了基因诊断的研究。结果发现临床诊断为 SMA的患儿 10例中有 9例出现端粒 SMN基因缺失而确认为阳性 ,1例阴性 ;正常家系成员 2 0例及正常对照组 2 0例均为阴性。此与国外报道相符。该法特异性高、敏感性好 ,实用可靠 ,适用于 SMA的基因诊断和胎儿的产前诊断 We performed a genetic diagnosis study of Spinal Muscular Atrophy (SMA) patients and controls using the mismatched PCR-RFLP method. RESULTS: Nine out of ten cases with clinically diagnosed SMA were confirmed as positive and one negative by the absence of telomere SMN gene. Twenty cases in normal pedigree and twenty normal controls were negative. This is consistent with foreign reports. The method is highly specific, sensitive, practical and reliable, suitable for gene diagnosis of SMA and prenatal diagnosis of fetus