摘要:目的 了解中国人Duchenne和Becker型肌营养不良症患者基因缺失情况。 方法 用覆盖dystrophin cD-NA全长56.3%的5个dystrophin cDNA探针检测41名无亲缘关系的DMD/BMD患者。 结果 22名(54%)患者存在基因突变，其中DMD患者的检出率为56.7%:BMD患者的检出率为45%。21名患者存在基因缺失，占检出数的95.45%。 结论 缺失主要分布在cDNA8检测区，其次在cDNA1-2a检测区。

    关键词:肌营养不良;基因;缺失

    Study on the gene deletion in patients with Duchenne muscular dystrophy(DMD and Becher muscular dystrophy(BMD).

    YANG Zhong-min，SHEN Ding-guo，CAI Shu-ping，et al.

    (Department of Neurology of Guangzhou Garrison General Hospital of PLA.Guangzhou510010，Guangdong，P.R.China)

    Abstract:Objective To investigate the circumstances of gene deletion of Chinese patients with Duchnne's type muscular dys-trophy(DMD and Becher muscular dystrophy(BMD). Methods Circumstances of gene deletions in41unrelated DMD and BMD patients were studied by using a32-p-dCTP labeled dystrophin cDNA probe(1-2a ......