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  • Title: Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies.
    Author: Prior TW, Friedman KJ, Highsmith WE, Perry TR, Silverman LM.
    Journal: Clin Chem; 1990 Mar; 36(3):441-5. PubMed ID: 1968788.
    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.
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