Detection of heterozygotes for intragenic deletions in families with recurrence of Duchenne or Becker muscular dystrophy

More than 60% of Duchenne/Becker muscular dystrophy (DMD/BMD) cases is due to deletions in the dystrophin gene, therefore the large majority of female carriers is heterozygote for an intragenic deletion. A new protocol is presented here for detection of these heterozygotes, based on multiplex semi-quantitative PCR amplification of genomic DNA. The method is non-radioactive, fast and easy to perform. The technique was successfully applied to a series of 60 females from DMD/BMD families, in which polymorphic DNA markers failed to define the carrier status.