目的探讨Ｄｕｃｈｅｎｎｅ型肌营养不良症（ＤＭＤ）患者基因缺失的突变特点并进行基因诊断。方法用一对特异引物进行聚合酶链反应（ＰＣＲ）扩增ｄｙｓｔｒｏｐｈｉｎ基因ｅｘｏｎ４８附近的ＤＮＡ片段。结果在２１例ＤＭＤ患者中，检出１６例患者的ｄｙｓｔｒｏｐｈｉｎ基因在该处存在缺失突变。支持ｅｘｏｎ４８是ｄｙｓｔｒｏｐｈｉｎ基因发生缺失突变“热点”区的观点。结论该方法可用于ＤＭＤ的遗传咨询、基因诊断及产前基因诊断。 Objective To investigate the gene mutation and gene diagnosis of Duchenne muscular dystrophy (DMD). Methods A pair of specific primers were used to amplify the DNA fragments near the dystrophin gene exon48 by polymerase chain reaction (PCR). Results Of the 21 patients with DMD, 16 patients were detected in the presence of dystrophin gene deletion mutation. Support for exon48 is a view of the “hot spot” region in which mutations in the dystrophin gene occur. Conclusion The method can be used for genetic counseling, genetic diagnosis and prenatal diagnosis of DMD.