Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies

Thomas W. Prior, Kenneth J. Friedman, W. Edward Highsmith, Tenly R. Perry, Lawrence M. Silverman

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


By use of cDNA probes, molecular deletions were identified in 66.6% of 42 patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Owing to this high deletion rate, a new strategy for detecting DMD/BMD carriers is feasible Jn which the polymerase chain reaction is used as an initial screen for detecting the deletions occurring in specific deletion-prone exons. Because the deletions do not occur randomly, specific cDNA probes are utilized first with Southern blot analysis. Identification of a deletion permits direct analysis for DMD carrier status and removes the inherent limitations of the conventional restriction fragment length polymorphism technique. Carrier status is determined by scanning the autoradiographs with a densitometric spectrophotometer or by detection of a junction fragment.

Original languageEnglish (US)
Pages (from-to)441-445
Number of pages5
JournalClinical chemistry
Issue number3
StatePublished - Mar 1990


  • Densitometry of autoradiographs
  • Polymerase chain reaction
  • Restriction fragment length polymorphism compared
  • Screening
  • Southern blot

ASJC Scopus subject areas

  • General Medicine


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