engleski

DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD

Accurate genetic counseling and the advent of possible treatment of some muscular dystrophies urgently need the exact diagnosis. Our usual approach to DMD/BMD diagnosis is based primarily on clinical, laboratory, genealogical, and multiplex PCR. Using this strategy 60% of the dystrophin gene defects should be detected. For remaining 40% of patients the diagnosis has to be assesed by dystrophin Western blot. In some patients this approach is not possible either the advanced dystrophic process does not permit protein analysis or because of patients’ refusal. If DNA is available, the exhaustive genomic Southern blotting followed by application of SSCP analysis or systematic sequencing of the 79 exons and their flanking sequences can give the answer. In rare informative families linkage analysis can be useful.This strategy is illustrated by analysis of DMD/BMD patients seen at our department during last four years.

DMD/BMD; diagnosis; strategy

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