Duchenne肌营养不良症(DMD)是常见的X连锁遗传病。DMD是由于肌营养不良蛋白(dystroophin)基因缺乏的结果。该基因位于X染色体上,由2000余个kb至少包括65个外显子组成。据北美和欧洲大量的研究表明,约60%的DMD病人存在着基因部分缺失,本文是首次用PCR筛选日本DMD病人的基因部分缺失报告。作者筛查了43个日本家庭49例DMD病人。病人皆为临床确诊的DMD患者。作者参照Chamberlain等的方法,应用6对引物多重PCR扩增dystrophin基因的 Duchenne muscular dystrophy (DMD) is a common X-linked genetic disease. DMD is the result of a deficiency of the dystroophin gene. This gene is located on the X chromosome and consists of at least 65 exons from more than 2000 kb. According to a large number of studies in North America and Europe, about 60% of DMD patients have partial gene deletion. This is the first report of PCR screening of partial gene deletion in Japanese DMD patients. The authors screened 49 Japanese patients with DMD in 49 families. All patients were clinically diagnosed DMD patients. According to Chamberlain et al.’s method, six pairs of primers were used to amplify the dystrophin gene