title: [Mutation analysis in the CTG-base multiplication in a family with myotonic dystrophy in three generations].
abstract: A PCR-based method with a novel silver staining detection was developed for the determination of CTG repeat number in the 3' untranslated region of the MD-PK gene responsible for myotonic dystrophy. Through the investigation of a family with affected members in three generations the application of the method is presented. According to the results, healthy individuals were verified easily, and the repeat number in patients with mild features or with premutation could be determined accurately. In severe clinical forms, e.g. congenital myopathy, the expansion can be deduced only from the lack of amplification, however, this is also helpful if the segregation of familial alleles is known.
authors.affiliation: Magyar Tudományos Akadémia és Pécsi Orvostudományi Egyetem Klinikai Genetikai Tanszéki Kutatócsoport.
authors.forename: J
authors.initials: J
authors.lastname: Molnár
authors.forename: A
authors.initials: A
authors.lastname: Kis
authors.forename: B
authors.initials: B
authors.lastname: Melegh
authors.forename: E
authors.initials: E
authors.lastname: Nádasi
authors.forename: T
authors.initials: T
authors.lastname: Varjas
authors.forename: E
authors.initials: E
authors.lastname: Kovács
authors.forename: G
authors.initials: G
authors.lastname: Kosztolanyi
mesh_terms: D000483:Alleles; D005260:Female; D005784:Gene Amplification; D015870:Gene Expression; D006801:Humans; D008297:Male; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
vernacular_title: Mutációanalízis a CTG-bázishármas megsokszorozódásának vizsgálatával egy háromgenerációs myotoniás dystrophiás családban.