title: MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
abstract: Duchenne/Becker muscular dystrophy (DMD/BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene, encoding the protein called dystrophin. This gene was screened in a group of 27 unrelated Bulgarian DMD/BMD patients by MLPA analysis/complete sequencing. We managed to clarify the disease-causing mutation in 96.3% of the analyzed families. The MLPA analysis revealed 17 deletions (including a deletion of the very last exon 79), 6 duplications and 1 point mutation. Two additional point mutations (one of them novel) were detected after complete sequencing of the DMD gene. Altogether, 25 carriers and 11 noncarriers were detected in our families. The MLPA test proved to be a powerful tool in detecting deletions/duplications and in some cases point mutations/polymorphisms along the DMD gene. Using this approach in combination with a direct gene sequencing a number of Bulgarian DMD/BMD patients are genetically clarified and prepared for gene therapy in future.
authors.affiliation: Department of Chemistry and Biochemistry, Medical Faculty, Sofia Medical University, 2 Zdrave str., Sofia 1431, Bulgaria. todorova_albena@abv.bg
authors.forename: Albena
authors.initials: A
authors.lastname: Todorova
authors.forename: Tihomir
authors.initials: T
authors.lastname: Todorov
authors.forename: Bilyana
authors.initials: B
authors.lastname: Georgieva
authors.forename: Michaela
authors.initials: M
authors.lastname: Lukova
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
authors.forename: Vanyo
authors.initials: V
authors.lastname: Mitev
mesh_terms: D002031:Bulgaria / Q000453:epidemiology; D016189:Dystrophin / Q000235:genetics*; D019075:Electrophoresis, Capillary; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics / Q000502:physiology; D021141:Nucleic Acid Amplification Techniques; D010641:Phenotype
chemical_list: C484258:DMD protein, human; D016189:Dystrophin