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

T. W. Prior, K. J. Friedman, W. E. Highsmith, T. R. Perry, L. M. Silverman

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

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 in 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
Volume36
Issue number3
DOIs
StatePublished - Jan 1 1990

Keywords

  • Southern blot
  • densitometry of autoradiographs
  • polymerase chain reaction
  • restriction fragment length polymorphism compared
  • screening

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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