title: Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa.
abstract: BACKGROUND
  Genetic testing for Duchenne/Becker muscular dystrophy (DMD/BMD) mutations initially involved multiplex polymerase chain reaction (mPCR), which targeted two mutation hotspots in the gene and detected deletions in affected males. A newer technology, multiplex ligation-dependent probe amplification (MLPA), was introduced for diagnostic testing in 2007.
  
  
  OBJECTIVE
  To evaluate MLPA relative to mPCR as a technique for DMD/BMD diagnostic testing and to establish whether the mutation profile in affected individuals differs between different South African ethnic groups. METHODS; From January 2000 - May 2007, genetic diagnostic testing for DMD/BMD was undertaken in 128 male patients using mPCR. From May 2007 onwards, MLPA replaced this technique and 261 males were investigated. MLPA is a kit-based technology available from MRC-Holland.Results. Of the 128 and 261 probands tested using mPCR and MLPA, respectively, 31% and 34% were found to carry a deletion mutation. Further, MLPA could detect duplication mutations (11.5%), complex rearrangements (1.5%) and small mutations (1.5%). In black patients, deletion mutations were found to cluster in the 3' region of the gene. No population-specific pathogenic mutations were found.
  
  
  CONCLUSIONS
  The mutation detection rate for mPCR and MLPA is similar for deletion mutations, but MLPA proved to be a better diagnostic approach as it could detect other types of mutations as well, including duplications, complex rearrangements and small mutations. MLPA could also diagnose mutation status in at-risk female relatives, which is not possible with mPCR.
authors.affiliation: Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. robyn.kerr@nhls.ac.za.
authors.forename: Robyn
authors.initials: R
authors.lastname: Kerr
authors.forename: Carol
authors.initials: C
authors.lastname: Robinson
authors.forename: Fahmida B
authors.initials: FB
authors.lastname: Essop
authors.forename: Amanda
authors.initials: A
authors.lastname: Krause
mesh_terms: D005260:Female; D015321:Gene Rearrangement; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D017384:Sequence Deletion; D013019:South Africa