Baumbach L L, Chamberlain J S, Ward P A, Farwell N J, Caskey C T
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Neurology. 1989 Apr;39(4):465-74. doi: 10.1212/wnl.39.4.465.
Human DMD cDNA probes have been used to delineate possible deletions in 160 affected males. Approximately 56% of these individuals had detectable deletions, 29% of which mapped to a region centered around 500 kb from the 5' end of the gene whereas 69% mapped to a region located centrally 1,200 kb from the 5' end. We have observed no correlation between the extent of a deletion, its location, and clinical severity of the associated disease. For some cases with deletions in the two high-frequency deletion regions, the predicted effect upon translational reading frame of the resultant dystrophin mRNA did not correlate with the associated disease phenotype.
人类DMD cDNA探针已被用于确定160名受影响男性中可能存在的缺失情况。这些个体中约56%存在可检测到的缺失，其中29%的缺失定位在基因5'端约500 kb为中心的区域，而69%的缺失定位在5'端中心1200 kb处的区域。我们没有观察到缺失范围、其位置与相关疾病临床严重程度之间的相关性。对于一些在两个高频缺失区域存在缺失的病例，所产生的肌营养不良蛋白mRNA翻译阅读框的预测影响与相关疾病表型不相关。
