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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. |
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