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Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q

Abstract

Autosomal recessive Duchenne–like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at θ̂ = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

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References

  1. Emery, A.E.H. Oxford Monographs on Medical Genetics No.15, 79–83 (Oxford University Press, Oxford, 1987).

    Google Scholar 

  2. Walton, J.N. The inheritance of muscular dystrophy further observation. Ann. hum. Genet. 21, 40 (1956).

    Article  CAS  PubMed  Google Scholar 

  3. Dubowitz, V. Progressive muscular dystrophy of the duchenne type in females and its mode of inheritance. Brain 83, 432–439 (1960).

    Article  CAS  PubMed  Google Scholar 

  4. Ben Hamida, M. & Fardeau, M. Severe, autosomal recessive, limb-girdle muscular dystrophies frequent in Tunisia. Exc. Med. Mus. Dy. Res., Adv. New Trends 527, 43–146 (1980).

    Google Scholar 

  5. Ben Hamida, M., Fardeau, M., & Attia, N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 6, 469–480 (1983).

    Article  CAS  PubMed  Google Scholar 

  6. Azibi, K. et al. Linkage analysis of 19 families with Maghrebien autosomal recessive myopathy. Cytogenet. Cell Genet. 58, 1907 (1991).

    Article  Google Scholar 

  7. Farag, T.I. & Teebi, A.S. Duchenne-like muscular dystrophy in the arabs. Am. J. med. Genet. 37, 290 (1990).

    Article  Google Scholar 

  8. Zatz, M., Passos-Bueno, M.R. & Rapaport, D. Estimate of the proportion of duchenne muscular dystrophy with autosomal recessive inheritance. Am. J. med. Genet. 32, 407–410 (1989).

    Article  CAS  PubMed  Google Scholar 

  9. Matsumura, K. et al. Deficiency of the 50K dystrophin associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature (in the press).

  10. Love, D.L. et al. An autosomal transcript in skeletal muscle with homology to dystrophin. Nature 339, 55–58 (1989).

    Article  CAS  PubMed  Google Scholar 

  11. Khurana, T.S., Hoffman, E.P. & Kunkel, L.M. Identification of a chromosome 6-encoded dystrophin-related protein. J. biol. Chem. 265, 16717–16720 (1990).

    CAS  PubMed  Google Scholar 

  12. Beckmann, J.S. et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C. R. Acad. Sci. Paris 312, 141–148 (1991).

    CAS  PubMed  Google Scholar 

  13. Speer, M.C. et al. Confirmation of genetic heterogeneity in Limb-Girdle Muscular Dystrophy: Linkage of an Autosomal Dominant form to chromosome 5q. Am. J. hum. Genet. 50, 1211–1217 (1992).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Hudson, T.J. et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13, 622–629 (1992).

    Article  CAS  PubMed  Google Scholar 

  15. McGuire, S.A. & Fischbeck, K.H. Autosomal recessive duchenne-like muscular dystrophy:molecular and histochemical results. Muscle Nerve 14, 1209–1212 (1991).

    Article  CAS  PubMed  Google Scholar 

  16. Ohlendieck, K., Ervasti, J.M., Snook, J.B. & Campbell, K.P. Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma. J. cell Biol. 112, 135–148 (1991).

    Article  CAS  PubMed  Google Scholar 

  17. Ben Jelloun-Dellagi, S. et al. Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. Neurology 40, 1903 (1990).

    Article  CAS  PubMed  Google Scholar 

  18. Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Pericak-Vance, M.A. et al. Systematic gene mapping in man: data management considerations. Aust. Paediatr. J. Suppl. 87–89 (1988).

  20. Ott, J. Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am. J. hum. Genet. 26, 588–597 (1974).

    CAS  PubMed  PubMed Central  Google Scholar 

  21. Elston, R.C. & Stewart, J. A general model for the genetic analysis of pedigree data. Hum. Hered. 21, 523–542 (1971).

    Article  CAS  PubMed  Google Scholar 

  22. Lange, K. & Elston, R.C. Extensions to pedigree analysis. I. Likelihood calculations for simple and complex pedigrees. Hum. Hered. 25, 95–105 (1975).

    Article  CAS  PubMed  Google Scholar 

  23. Frydman, M. et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc. natn. Acad. Sci. U.S.A. 82, 1819–1821 (1985).

    Article  CAS  Google Scholar 

  24. Conneally, P.M. et al. Report of the committee on methods of linkage analysis and reporting. Cytogenet. Cell Genet. 40, 356–359 (1985).

    Article  CAS  PubMed  Google Scholar 

  25. Ott, J. Analysis of Human Genetic Linkage (The Johns Hopkins University Press, Baltimore, 1991).

    Google Scholar 

Download references

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Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M. et al. Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 2, 315–317 (1992). https://doi.org/10.1038/ng1292-315

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