Abstract
Partial gene deletion is the major type of mutation
leading to Duchenne muscular dystrophy (DMD) and
its mild allelic form, Becker muscular dystrophy
(BMD). Amplification of the genomic DNAs of 152
unrelated dystrophin patients using multiple primers
detected 78 (51.3%) probands with deletion mutations.
We predicted the translational reading frame for all
the deletions in Egyptian dystrophin males. The
frameshift rule was confirmed positively ranging for
50 to 67% of the cases depending on the type of disease.
We discuss ways of accounting for some exceptions
from the frameshift hypothesis in the central and
proximal regions. These explanations may help in developing
procedures for reducing the severity of dystrophin
phenotypes to restore the correct frame by
disrupting the translational fidelity. Great efforts have
been put into the development of effective ‘gene correction’
procedures via such intrinsic mechanisms. In
addition, we mapped regional difference in deletion
mutation frequencies within the DMD gene locus between
the different Egyptian governorates. There were
no double deletions in the Egyptian dystrophin males. KCI Citation Count: 11