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Dystrophin immunocytochemistry in muscle culture: Detection of a carrier of Duchenne muscular dystrophy

  1. Af Miranda1,
  2. U Francke3,
  3. E Bonilla2,
  4. G Martucci1,
  5. B Schmidt2,
  6. G Salviati4,
  7. M. Rubin2

Article first published online: 3 JUN 2005

DOI: 10.1002/ajmg.1320320231

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 32, Issue 2, pages 268–273, February 1989

Additional Information

How to Cite

Miranda, A., Francke, U., Bonilla, E., Martucci, G., Schmidt, B., Salviati, G. and Rubin, M. (1989), Dystrophin immunocytochemistry in muscle culture: Detection of a carrier of Duchenne muscular dystrophy. Am. J. Med. Genet., 32: 268–273. doi: 10.1002/ajmg.1320320231

Author Information

  1. 1

    Departments of Pathology Columbia University, New York, NY

  2. 2

    Departments of Neurology Columbia University, New York, NY

  3. 3

    Department of Human Genetics, Yale University School of Medicine, New Haven, CT

  4. 4

    University of Padua, Padua, Italy

Publication History

  1. Issue published online: 3 JUN 2005
  2. Article first published online: 3 JUN 2005

Funded by

  • Center and Research Grants from the Muscular Dystrophy Association and the National Institute of Neurological and Communicative Disorders and Stroke. Grant Number: NS 117 66

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Keywords:

  • Duchenne dystrophy;
  • dystrophin immunocytochemistry;
  • carriers;
  • dystrophin cDNA;
  • muscle culture

Abstract

Dystrophin is the gene product which is affected in Duchenne muscular dystrophy(DMD). We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry, using anti-dystrophin antibody. While clonal cultures derived from normal muscle expressed dystrophin in all myotubes, two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable. No DNA deletion, duplication or rearrangement was detected by Southern blot analysis of DNA from this family using cDNA probes. Thus, immunocytochemical analysis of clonal muscle cultures may be a useful method to determine whether mothers of DMD patients are carriers of the DMD mutation, especially in the absence of demonstrable gene defects.

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