Journal
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
Volume 11, Issue 10, Pages 988-993Publisher
IVYSPRING INT PUBL
DOI: 10.7150/ijms.8391
Keywords
Duchenne/Becker; Multiplex Ligation-dependent Probe Amplification (MLPA); de novo mutations
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Funding
- Plan Propio of the University of Granada
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Background: Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible. Methods: Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives. Results: Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied. Conclusions: MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.
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