title: Deletion screening of the Duchenne/Becker muscular dystrophy gene in Croatian population.
abstract: The dystrophin gene deletion in 53 Duchenne and 21 Becker muscular dystrophy (DMD/BMD) male patients was analyzed by DNA test using multiplex polymerize chain reaction (M-PCR) in Croatian population. The overall percentage of deletion cases observed was 50%; 61% (53/32) for DMD and 38% (21/8) for BMD. The number of deleted exons was variable, but generally DMD deletions involving single-exon 19, 44, 50, 51 and larger exon deletions 3-6, 4-12, 4-17, 8-13, 12-13, 12-19, 48-50, 50-51, 50-52, 51-52 were more frequent. Eight patients with BMD had deletions exon 45-47, 45-48, and exon 3. The results obtained in the present study showed location of breakpoints in the dystrophin gene, and pointed to variability of deletion patterns in Croatian population among different European populations.
authors.affiliation: Clinical Institute of Laboratory Diagnosis, Zagreb University School of Medicine and Clinical Hospital, Croatia.
authors.forename: J
authors.initials: J
authors.lastname: Sertić
authors.forename: N
authors.initials: N
authors.lastname: Barisić
authors.forename: M
authors.initials: M
authors.lastname: Sostarko
authors.forename: Z
authors.initials: Z
authors.lastname: Brzović
authors.forename: A
authors.initials: A
authors.lastname: Stavljenić-Rukavina
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D017523:Croatia; D016189:Dystrophin / Q000235:genetics; D005091:Exons; D005828:Genetics, Population; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D016189:Dystrophin