Ferreiro Verónica, Giliberto Florencia, Muñiz García M Noelia, Francipane Liliana, Marzese Diego M, Mampel Alejandra, Roqué María, Frechtel Gustavo D, Szijan Irene
Genetics Division, Clinical Hospital "José de San Martín," University of Buenos Aires, 2250 Paraguay, 1120 Buenos Aires, Argentina.
Muscle Nerve. 2009 Feb;39(2):239-43. doi: 10.1002/mus.21193.
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.
我们报告了一个贝克型肌营养不良（BMD）家族，其中有一名5岁的患病患者和一位69岁无症状的祖父。肌营养不良蛋白基因多重聚合酶链反应和多重连接依赖探针扩增分析表明，两名男性均携带45-55号外显子的框内缺失。家系分析显示该家族还有另外两名无症状男孩。我们的发现支持了之前的预测，即45-55号外显子是反义基因治疗中将严重的杜氏肌营养不良转化为较轻的BMD甚至无症状表型的最佳多外显子跳跃靶点。
