title: Mutational analysis of muscle and brain specific promoter regions of dystrophin gene in DMD/BMD Italian patients by denaturing gradient gel electrophoresis (DGGE).
abstract: In order to characterize the nature of mutations occurring in non-deleted Duchenne (DMD) and Becker muscular dystrophy (BMD) affected males, a total of 40 unrelated Italian patients was studied for the presence of point mutations within the muscle-specific regulatory region of the dystrophin gene. We decided to investigate the dystrophin promoter sequences because nucleotide variations in these regions could impair the expression of the gene and be the underlying molecular defect in some forms of the disease. In four patients suffering from mental retardation, the brain promoter region was also studied. To screen for point mutations, we applied molecular analysis by parallel denaturing gradient gel electrophoresis (DGGE). No sequence alterations were found in either the muscle or the brain promoters, suggesting that mutations in these regions do not represent a common mechanism of mutation in DMD/BMD.
authors.affiliation: IRCCS Molecular Genetics Laboratory, H S. Raffaele, Milan, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Tubiello
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.forename: N
authors.initials: N
authors.lastname: Soriani
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D016189:Dystrophin / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D009928:Organ Specificity; D017354:Point Mutation; D011401:Promoter Regions, Genetic
chemical_list: D017931:DNA Primers; D016189:Dystrophin; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins