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Clinical Chemistry 36: 441-445, 1990;
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Clinical Chemistry, Vol 36, 441-445, Copyright © 1990 by American Association for Clinical Chemistry

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

TW Prior, KJ Friedman, WE Highsmith Jr, TR Perry and LM Silverman
Department of Laboratory Medicine, North Carolina Memorial Hospital, Chapel Hill.

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.


The following articles in journals at HighWire Press have cited this article:


Home page
 J. Mol. Diagn.Home page
T. W. Prior and S. J. Bridgeman
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
J. Mol. Diagn., August 1, 2005; 7(3): 317 - 326.
[Abstract] [Full Text] [PDF]


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Copyright © 1990 by the American Association for Clinical Chemistry.