title: [Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].
abstract: OBJECTIVE
  To clarify advantages and disadvantages of using multiplex ligation-dependent probe amplification (MLPA) for detecting exonic deletions and duplications of the Dystrophin gene, and to explore the appropriate management for single-exon abnormality detected by MLPA.
  
  
  METHODS
  MLPA were performed to detect exonic copy number changes in 70 Duchenne/Becker muscular dystrophy (DMD/BMD) patients diagnosed by clinical and histological findings. PCR, DNA sequencing and real-time PCR were applied to the samples in which MLPA indicated single-exon deletion or duplication.
  
  
  RESULTS
  Of all 70 patients, MLPA detected exonic deletions in 42 (60%), including 12 with single-exon deletion and one with ambiguous single-exon deletion. Exon duplications were found in 7 patients (10%), among which two were single-exon duplication. 21 patients showed normal results (30%). For the 12 patients with single-exon deletion, MLPA results were confirmed by PCR in 11. In one patient, a deletion of two nucleotides (c.4470-4471delAA) was found by sequencing. A novel two-nucleotide deletion (c.4746-4747delCT) was identified in the patient with the ambiguous single-exon deletion. For the two patients showed single-exon duplication, MLPA results were confirmed by real-time PCR.
  
  
  CONCLUSIONS
  MLPA should be the first choice in detecting Dystrophin gene exon deletions and duplications. Single-exon deletion/duplication resulted from MLPA should be further evaluated by other methods.
authors.affiliation: Shanghai Institute for Pediatric Research, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
authors.forename: Fei
authors.initials: F
authors.lastname: Long
authors.forename: Wei
authors.initials: W
authors.lastname: Sun
authors.forename: Xing
authors.initials: X
authors.lastname: Ji
authors.forename: Xi-hua
authors.initials: XH
authors.lastname: Li
authors.forename: Xiao-qing
authors.initials: XQ
authors.lastname: Liu
authors.forename: Wen-ting
authors.initials: WT
authors.lastname: Jiang
authors.forename: Jiong
authors.initials: J
authors.lastname: Tao
mesh_terms: D001483:Base Sequence; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*
chemical_list: D016189:Dystrophin