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Detection of Truncated Dystrophin in Fetal DMD Myotubes

  • Ieke B. Ginjaar
  • Egbert Bakker
  • Johan T. den Dunnen
  • Andy Wessels
  • Marleen M. B. van Paassen
  • Maarten D. Kloosterman
  • Elizabeth E. Zubrzycka-Gaarn
  • Kenneth H. Fischbeck
  • Antoon F. M. Moorman
  • Gert-Jan B. van Ommen
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 280)

Abstract

Duchenne muscular dystrophy (DMD) is the most common of all muscular dystrophies (1 in 3000 live male births). It is an X-linked recessive lethal disorder, characterized by a progressive muscle degeneration. The application of DNA technology has made it possible to carry out reliable DNA diagnosis with more than 99% certainty in most familial DMD cases1,2,3.

Keywords

Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy Patient Normal Fetus Becker Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    E. Bakker, M.H. Hofker, N. Goor, J.L. Mandel, K. Wroggemann, K.E. Davies, L.M. Kunkel, H.F. Willard, W.A. Fenton, L. Sanduyl, D. Majoor-Krakauer, A.J. van Essen, M.G.J. Jahoda, E.S. Sachs, G.J.B. van Ommen and P.L. Pearson. Prenatal diagnosis and carrier detection of Duchenne Muscular Dystrophy with closely linked RFLPs. Lancet I: 655–658 (1985).Google Scholar
  2. 2.
    M. Koenig, E.P. Hoffman, C.J. Bertelson, A.P. Monaco, C. Feener and P.L. Pearson. Complete cloning of the Duchenne Muscular Dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509–517 (1987).PubMedCrossRefGoogle Scholar
  3. 3.
    E. Bakker, E.J. Bonten, H. Veenema, J.T. den Dunnen, P.M. Grootscholten, G.J.B. van Ommen and P.L. Pearson. Prenatal diagnosis of Duchenne muscular dystrophy: a three year experience in a rapidly evolving field. J. Inher. Metab. Dis. 12 suppl. I: 174–190 (1989).Google Scholar
  4. 4.
    E.P. Hoffman, R.H. Brown and L.M. Kunkel. Dystrophin: the protein product of the Duchenne Muscular Dystrophy locus. Cell 51: 919–928 (1987).PubMedCrossRefGoogle Scholar
  5. 5.
    K. Arahata, S. Ishiura, T. Ishiguro, T. Tsukuhara, Y. Suhara, C. Eguchi, T. Ishihara, I. Nonaka, E. Ozawa and H. Sugita. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333: 861–863 (1988).PubMedCrossRefGoogle Scholar
  6. 6.
    E.E. Zubrzycka-Gaarn, D.E. Bulman, G. Karpati, A.H.M. Burghes, B. Belfall, H. Hajklamut, J. Talbot, R.S. Hodges, P.N. Ray and R.G. Worton. The Duchenne muscular dystrophy gene product is localized in the sarcolemma of human skeletal muscle fibers. Nature 333: 466–469 (1988).PubMedCrossRefGoogle Scholar
  7. 7.
    S.C. Watkins, E.P. Hoffman, H.S. Slayter and L.M. Kunkel. Immunoelectronmicroscopic localization of dystrophin in myofibers. Nature 333: 863–866 (1988).PubMedCrossRefGoogle Scholar
  8. 8.
    E. Bonilla, C.E. Samitt, A.F. Miranda, A.P. Hays, G. Salviati, S. DiMauro, L.M. Kunkel, E.P. Hoffman and L.P. Rowland. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54: 447–452 (1988).PubMedCrossRefGoogle Scholar
  9. 9.
    E.P. Hoffman, C.M. Knudson, K.P. Campbell and L.M. Kunkel. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330: 754–758 (1987).PubMedCrossRefGoogle Scholar
  10. 10.
    E.P. Hoffman, K.H. Fischbeck, R.H. Brown, M. Johnson, R. Medori, J.D. Loike, J.B. Harris, R. Waterston, M. Brooke, L. Specht, W. Kupsky, J. Chamberlain, C.T. Caskey, F. Shapiro and L.M. Kunkel. Dystrophin characterization in muscle biopsies from Duchenne and Becker muscular dystrophy patients. N. Engl. J. Med. 318: 1363–1368 (1988).PubMedCrossRefGoogle Scholar
  11. 11.
    A.P. Monaco, C.J. Bertolson, S. Liechti-Gallati, H. Moser and L.M. Kunkel. An explanation for the phenotypic difference between patients bearing partial deletions of the DMD locus. Genomics 2: 90–95 (1988).PubMedCrossRefGoogle Scholar
  12. 12.
    E.P. Hoffman and L.M. Kunkel. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2: 1019–1030 (1989).PubMedCrossRefGoogle Scholar
  13. 13.
    A.F.M. Moorman, M.P.A. Schalekamp, P.A.J. De Boer, W.J.C. Geerts, W.H. Lamers and R. Charles. Immunohistochemical analysis of the distribution of histone H5 and hemoglobin during chicken development. Differentiation 34: 161–167 (1987).PubMedCrossRefGoogle Scholar
  14. 14.
    A.F.M. Moorman, N.A.J. de Boer, M.Th. Linders and R. Charles. The histone H5 variant in Xenopus laevis. Cell Diff. 14: 113–120 (1984).CrossRefGoogle Scholar
  15. 15.
    J.T. den Dunnen, E. Bakker, G.J.B. van Ommen and P.L. Pearson. The DMD gene analyzed by field inversion gel electrophoresis. Brit. Med. Bull. 45: 644–658 (1989).Google Scholar
  16. 16.
    K.P. Campbell and S.D. Kahl. Nature 338: 259–262 (1989).PubMedCrossRefGoogle Scholar
  17. 17.
    A. Wessels, I.B. Ginjaar, A.F.M. Moorman and G.J.B. van Ommen. Different localization of dystrophin in developing and adult human skeletal muscle. Muscle and Nerve (in press).Google Scholar

Copyright information

© Plenum Press, New York 1990

Authors and Affiliations

  • Ieke B. Ginjaar
    • 1
    • 2
  • Egbert Bakker
    • 1
  • Johan T. den Dunnen
    • 1
  • Andy Wessels
    • 2
  • Marleen M. B. van Paassen
    • 1
  • Maarten D. Kloosterman
    • 3
  • Elizabeth E. Zubrzycka-Gaarn
    • 4
  • Kenneth H. Fischbeck
    • 5
  • Antoon F. M. Moorman
    • 2
  • Gert-Jan B. van Ommen
    • 1
  1. 1.Dept. of Human GeneticsSylvius LaboratoryLeidenthe Netherlands
  2. 2.Dept. of Anatomy and EmbryologyAMCAmsterdamthe Netherlands
  3. 3.Dept. of Prenatal DiagnosticsHervormd DiaconessenhuisArnhemthe Netherlands
  4. 4.Hospital for Sick ChildrenTorontoCanada
  5. 5.Dept. of NeurologyHospital of the University of PennsylvaniaPhiladelphiaUSA

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