Analyse moleculaire de 10 familles atteintes de myopathie de Duchenne

ABSTRACT

We report the result of screening for molecular deletions in the dystrophin gene and of carriers determination in 120 individuals encompassing 16 boys with DMD in 10 families from SFAX and south of Tunisia. Deletions in DNA from boys with DMD were detected by PCR with series of 18 specific exon primers. We have determined carriers by PCR using CA repeat polymorphism and we have confirmed results obtained with first methods by southern blot analysis using Hind III and specific probes. results revealed variable deletions in 12-13 and 45 to 52 exons and 10 carriers