title: Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.
abstract: BACKGROUND
  The Duchenne muscular dystrophy (DMD) gene is located in the short arm of the X chromosome (Xp21). It spans 2.4 Mb of the human genomic DNA and is composed of 79 exons. Mutations in the Dystrophin gene result in DMD and Becker muscular dystrophy. In this study, the efficiency of multiplex ligation-dependent probe amplification (MLPA) over multiplex polymerase chain reaction (PCR) assays in an Iranian population was investigated.
  
  
  METHODS
  Multiplex PCR assays and MLPA analysis were carried out in 74 patients affected with DMD.
  
  
  RESULTS
  Multiplex PCR detected deletions in 51% of the patients with DMD. MLPA analysis could determine all the deletions detected by the multiplex PCR. Additionally, MLPA was able to identify one more deletion and duplication in patients without detectable mutations by multiplex PCR. Moreover, MLPA precisely determined the exact size of the deletions.
  
  
  CONCLUSIONS
  Although MLPA analysis is more sensitive for detection of deletions and duplications in the dystrophin gene, multiplex PCR might be used for the initial analysis of the boys affected with DMD in the Iranian population as it was able to detect 95% of the rearrangements in patients with DMD.
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Inherited Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Neurology, Pediatric Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Nayereh
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Esmat
authors.initials: E
authors.lastname: Fazel-Najafabadi
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mansoor
authors.initials: M
authors.lastname: Salehi
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Hosseinzadeh
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mahdieh
authors.initials: M
authors.lastname: Behnam
authors.affiliation: Pediatric Neurology, Pediatric Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Ghazavi
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Inherited Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran ; Pediatric Neurology, Pediatric Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Sedghi
keywords: Deletion; duchenne muscular dystrophy; duplication; multiplex ligation-dependent probe amplification; multiplex polymerase chain reaction