title: Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an east-European Slavonic population.
abstract: In 32 unrelated DMD patients originating from Slovakia (Czechoslovakia), screening for deletions in the dystrophin gene was performed with cDNA probes Cf56a, Cf56b, 1-2a, 2b-3 4-5a, 5b-7, and 8. In 14 out of 32 DMD patients (43.75 per cent), a deletion extending from one to three adjacent probes was observed. The highest proportion of deletions was found with probes 8 and 1-2a (50 and 28.6 per cent of all deletions, respectively). All these proportions are similar to those found in other populations of European origin.
authors.affiliation: Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava.
authors.forename: L
authors.initials: L
authors.lastname: Kádasi
authors.forename: J
authors.initials: J
authors.lastname: Gécz
authors.forename: L
authors.initials: L
authors.lastname: Saksová
mesh_terms: D003604:Czechoslovakia; D015342:DNA Probes; D016189:Dystrophin / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
chemical_list: D015342:DNA Probes; D016189:Dystrophin