Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method

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 patie...

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Bibliographic Details
Published in:Biochemical genetics 2013-04, Vol.51 (3-4), p.189-201
Main Authors: Sansovic, Ivona, Barisic, Ingeborg, Dumic, Katja
Format: Article
Language:English
Subjects:
Biochemistry
Biomedical and Life Sciences
Biomedicine
Dystrophin - genetics
Dystrophy
Exons - genetics
Female
Frameshift Mutation
Gene Deletion
Gene Duplication
Genetic Carrier Screening
Human Genetics
Humans
Male
Medical Microbiology
Multiplex Polymerase Chain Reaction - methods
Muscular Dystrophy, Duchenne - diagnosis
Muscular Dystrophy, Duchenne - genetics
Muscular Dystrophy, Duchenne - pathology
Mutation
Reproducibility of Results
Retrospective Studies
Zoology
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Summary: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.
ISSN:0006-2928
1573-4927
DOI:10.1007/s10528-012-9554-9