Detection of deletions and duplications in the Duchenne muscular dystrophy gene by the molecular method MLPA in the first Argentine affected families

Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations.A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences.The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA.DNA samples from patients with and without a previous diagnosis were included.MLPA assays were performed according to manufacturer recommendations.Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected.Results ©FUNPEC-RP www.funpecrp.com.br