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

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

Research output: Contribution to journalArticle

17 Citations (Scopus)

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 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
Volume36
Issue number3
StatePublished - Mar 1990
Externally publishedYes

Fingerprint

Molecular Probes
Duchenne Muscular Dystrophy
Complementary DNA
Polymerase chain reaction
Spectrophotometers
Polymorphism
Exons
Scanning
Southern Blotting
Restriction Fragment Length Polymorphisms
Polymerase Chain Reaction

Keywords

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

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Prior, T. W., Friedman, K. J., Highsmith, W. E. J., Perry, T. R., & Silverman, L. M. (1990). Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies. Clinical Chemistry, 36(3), 441-445.

Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies. / Prior, Thomas W.; Friedman, Kenneth J.; Highsmith, W Edward Jr.; Perry, Tenly R.; Silverman, Lawrence M.

In: Clinical Chemistry, Vol. 36, No. 3, 03.1990, p. 441-445.

Research output: Contribution to journalArticle

Prior, TW, Friedman, KJ, Highsmith, WEJ, Perry, TR & Silverman, LM 1990, 'Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies', Clinical Chemistry, vol. 36, no. 3, pp. 441-445.
Prior TW, Friedman KJ, Highsmith WEJ, Perry TR, Silverman LM. Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies. Clinical Chemistry. 1990 Mar;36(3):441-445.
Prior, Thomas W. ; Friedman, Kenneth J. ; Highsmith, W Edward Jr. ; Perry, Tenly R. ; Silverman, Lawrence M. / Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies. In: Clinical Chemistry. 1990 ; Vol. 36, No. 3. pp. 441-445.
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