MUTATIONAL ANALYSIS OF MUSCLE AND BRAIN-SPECIFIC PROMOTER REGIONS OF DYSTROPHIN GENE IN DMD BMD ITALIAN PATIENTS BY DENATURING GRADIENT GEL-ELECTROPHORESIS (DGGE)/
G. Tubiello et al., MUTATIONAL ANALYSIS OF MUSCLE AND BRAIN-SPECIFIC PROMOTER REGIONS OF DYSTROPHIN GENE IN DMD BMD ITALIAN PATIENTS BY DENATURING GRADIENT GEL-ELECTROPHORESIS (DGGE)/, Molecular and cellular probes, 9(6), 1995, pp. 441-446
Citations number
30
Categorie Soggetti
Cell Biology",Biology,"Biochemical Research Methods
In order to characterize the nature of mutations occurring in non-dele
ted 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 th
e dystrophin gene. We decided to investigate the dystrophin promoter s
equences because nucleotide variations in these regions could impair t
he expression of the gene and be the underlying molecular defect in so
me forms of the disease. In four patients suffering from mental retard
ation, the brain promoter region was also studied. To screen for point
mutations, we applied molecular analysis by parallel denaturing gradi
ent 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. (C) 1995 Academic Press Limited