title: DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.
abstract: Approximately 30% of Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene and it is difficult to identify single nucleotide variations in genomic DNA using current diagnostic techniques. This represents a great obstacle in genetic analysis of these patients and genetic counselling of their families. In this work we performed denaturing gradient gel electrophoresis analysis to search for Duchenne muscular dystrophy mutations. We screened the whole dystrophin gene in 20 Brazilian Duchenne muscular dystrophy patients without a detectable deletion or duplication, and their mothers. The disease causing mutations, all of which have not been described before, were identified, and we could determine the carrier status of the mothers in all analyzed families. We concluded that denaturing gradient gel electrophoresis is very efficient in identifying small mutations and de novo mutations and in determining the carrier status of the mothers in these 30% of Duchenne muscular dystrophy patients. Denaturing gradient gel electrophoresis showed a high mutation detection rate (100%) for Duchenne muscular dystrophy and can be used as a current diagnostic procedure.
authors.affiliation: Departamento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro, RJ, Rio de Janeiro, Brazil. dolinsky@biologia.ufrj.br
authors.forename: Luciana C B
authors.initials: LC
authors.lastname: Dolinsky
authors.forename: Rodrigo S
authors.initials: RS
authors.lastname: de Moura-Neto
authors.forename: Daisy Neves
authors.initials: DN
authors.lastname: Falcão-Conceição
mesh_terms: D001938:Brazil / Q000453:epidemiology; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic
chemical_list: D016189:Dystrophin