title: Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.
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.
authors.affiliation: Medical Genetics Center, Ain Shams University, Cairo, Egypt. nasgenet@hotmail.com
authors.forename: Nasser A
authors.initials: NA
authors.lastname: Elhawary
authors.forename: Elhawary
authors.initials: E
authors.lastname: Nasser A
authors.forename: Rabah Mohamad
authors.initials: RM
authors.lastname: Shawky
authors.forename: Nemat
authors.initials: N
authors.lastname: Hashem
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D005091:Exons; D005192:Family Health; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D017720:Molecular Epidemiology / Q000379:methods; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology / Q000235:genetics*; D016366:Open Reading Frames; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: C484258:DMD protein, human; D016189:Dystrophin