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目的了解Duchenne型肌营养不良(DMD)/Becker型肌营养不良(BMD)患者基因缺失的分布规律,并探索检测技术。方法应用28对引物多重聚合酶链反应(mPCR)分4组对20例DMD/BMD患者进行Dysophin基因缺失检测分析。结果12例(60%)存在外显子缺失,8例(40%)未检测到缺失;8例缺失片段集中于44～52号外显子,4例集中于5′端外显子。结论基因缺失为主要突变类型,缺失片段主要分布于44～52、2～20号外显子两个缺失热区。
Objective To investigate the distribution of gene deletion in patients with Duchenne muscular dystrophy (DMD) / Becker muscular dystrophy (BMD) and explore the detection technique. Methods Dysophin gene deletion was detected in 20 patients with DMD / BMD using 28 pairs of primer multiplex polymerase chain reaction (mPCR) in 4 groups. Results Exon deletion was found in 12 cases (60%). No deletion was found in 8 cases (40%). The deletion fragments were concentrated in exon 44 to 52 and in 4 cases in exon 5 ’. Conclusion The gene deletion is the main type of mutation, and the deletion fragments are mainly distributed in two missing hot regions of exons 44 ~ 52 and 2 ~ 20.