title: Exon deletion pattern in duchene muscular dystrophy in north west of iran.
abstract: OBJECTIVE
  Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran.
  In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR.
  
  
  RESULTS
  Deletions were detected in 63 (57.3%) patients, and around 83% localized in the mid-distal hotspot of the gene (on exons 44-52), 21 cases (33.3 %) with single-exon deletions, and 42 cases (66.6%) with multi-exonic deletions. The most frequent deleted exons were exon 50 (15 %) and exon 49 (14%). No deletion was detected in exon 3.
  
  
  CONCLUSIONS
  This study suggests that the frequency and pattern of dystrophin gene deletions in DMD/ BMD in the Azeri Turk population of North West Iran occur in the same pattern when compared with other ethnic groups.
authors.affiliation: Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. ; Division of Pediatric Neurology, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Barzegar
authors.affiliation: Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Parinaz
authors.initials: P
authors.lastname: Habibi
authors.affiliation: Center of excellence for biodiversity, Department of Molecular Medical Genetics, Faculty of Natural Sciences University of Tabriz, Tabriz, Iran.
authors.forename: Mortaza
authors.initials: M
authors.lastname: Bonyady
authors.affiliation: Physical Medicine & Rehabilitation Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Vahideh
authors.initials: V
authors.lastname: Topchizadeh
authors.affiliation: Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. ; Division of Pediatric Neurology, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Shadi
authors.initials: S
authors.lastname: Shiva
keywords: Becker Muscular Dystrophy; Duchenne Muscular Dystrophy; Dystrophin; Multiplex PCR