title: Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.
abstract: BACKGROUND
  Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders.
  
  
  OBJECTIVE
  To study the utility of MLPA in diagnosis and carrier detection for DMD.
  
  
  METHODS
  Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared.
  
  
  CONCLUSIONS
  We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors: Prashant K
authors: PK
authors: Verma
authors: Ashwin
authors: A
authors: Dalal
authors: Balraj
authors: B
authors: Mittal
authors: Shubha R
authors: SR
authors: Phadke