title: Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.
abstract: The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). The efficacy of the assay was validated by testing 20 unrelated male patients with DMD/BMD who had already been screened by multiplex PCR (mPCR). We detected two duplications that had been missed by mPCR. In one DMD patient showing an ambiguous MLPA result, a novel mutation (c.3808_3809insG) was identified. MLPA improved the mutation detection rate of mPCR by 15 %. The results of our study (1) confirmed MLPA to be the method of choice for detecting DMD gene rearrangements in DMD/BMD patients, (2) showed that ambiguous MLPA amplification products should be verified by other methods, and (3) indicated that the MLPA method could be used in screening even for small mutations located in the probe-binding regions.
authors.affiliation: Department of Pediatrics, Children's Hospital Zagreb, University of Zagreb Medical School, Klaićeva 16, HR-10000, Zagreb, Croatia. ivona.sansovic@kdb.hr
authors.forename: Ivona
authors.initials: I
authors.lastname: Sansović
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barišić
authors.forename: Katja
authors.initials: K
authors.lastname: Dumić
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D020440:Gene Duplication; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D015203:Reproducibility of Results; D012189:Retrospective Studies
chemical_list: D016189:Dystrophin