Skip to main content
SpringerLink
Log in

Genetic mapping of facioscapulohumeral muscular dystrophy

  • Chapter
Book cover Molecular and Cell Biology of Muscular Dystrophy

Part of the book series: Molecular and Cell Biology of Human Diseases Series ((Mol. Cell Biol. Hu. Dis.))

  • 151 Accesses

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a well described neuromuscular disorder with an autosomal dominant inheritance pattern. The molecular defect underlying FSHD is unknown and lack of biochemical and physiological markers precluded a reliable presymptomatic diagnosis. Therefore, chromosomal localization of the FSHD gene by linkage analysis seemed the most straightforward first step towards unravelling the FSHD gene defect. By application of the recently developed microsatellite markers, the FSHD gene was mapped to chromosome 4 within a period of six weeks, demonstrating the general utility of these efficient markers.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Berriche, S., Guettair, N., Intrator, S. et al. (1988) Le locus de susceptibilité à la dystrophic musculaire facio-scapulo-humérale n’est past lié à celui des chaînes lourdes d’immunoglobulines. Bio-sciences, 7, 90–2.

    Google Scholar 

  • Blake, D., Gilliam, T.C., Warburton, D. and Rowland, L.P. (1988) Possible clue for chromosomal assignment of the gene for facioscapulohumeral muscular dystrophy: a family with polyposis. Ann. Neurol., 1, 178.

    Google Scholar 

  • Blake, D., Brown, R., Gilliam, T.C. et al. (1989) The second family with facioscapulohumeral muscular dystrophy and familial polyposis coli. Neurol., 39 (S1), 404.

    Google Scholar 

  • Bodrug, S.E., Roberson, J.R., Weiss, L. et al. (1990) Prenatal identification of a girl with a t(X;4) (p21;35) translocation: molecular characterisation, parental origin, and association with muscular dystrophy. J. Med. Genet., 27, 426–32.

    Article  PubMed  CAS  Google Scholar 

  • Botstein, D., White, R., Skolnick, M. and Davis, R. (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet., 32, 314–31.

    PubMed  CAS  Google Scholar 

  • Bowden, N.W., Gravius, T.C., Green, P. et al. (1989) A genetic linkage map of 32 loci on human chromosome 10. Genomics, 5, 718–26.

    Article  PubMed  CAS  Google Scholar 

  • Brouwer, O.F., Ruys, C.J.M., Brand, R. et al. (1991) Hearing loss in facioscapulohumeral muscular dystrophy. J. Neurol., 56S, 237.

    Google Scholar 

  • Buetow, K.H., Nishimura, D., Green, P. et al. (1990) A detailed multipoint gene map of chromosome 1q. Genomics, 8, 13–21.

    Article  PubMed  CAS  Google Scholar 

  • Buetow, K.H., Shiang, R., Yang, P. et al. (1991) A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position specific recombination rates. Am. J. Hum. Genet., 48, 911–25.

    PubMed  CAS  Google Scholar 

  • Burke, D.T., Carle, D.T. and Olson, M.V. (1987) Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science, 236, 806–12.

    Article  PubMed  CAS  Google Scholar 

  • Chamberlain, S., Shaw, J., Rowland, A. et al. (1988) Mapping of mutation causing Friedreich’s ataxia to human chromosome 9. Nature, 334, 248–50.

    Article  PubMed  CAS  Google Scholar 

  • Donis-Keller, H., Green, P., Helms, C. et al. (1987) A genetic linkage map of the human genome. Cell, 51, 319–37.

    Article  PubMed  CAS  Google Scholar 

  • Edwards, J.H. (1987) Exclusion mapping. J. Med. Genet., 24, 539–43.

    Article  PubMed  CAS  Google Scholar 

  • Fitzsimons, R.B., Gurwin, E.B. and Bird, A.C. (1987) Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. Brain, 110, 631–48.

    Article  PubMed  Google Scholar 

  • Friend, S.H., Bernards, R., Rogelj, S. et al. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323, 643–6.

    Article  PubMed  CAS  Google Scholar 

  • Harper, M.A. and Saunders, G.F. (1981) Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma, 83, 431–9.

    Article  PubMed  CAS  Google Scholar 

  • Jeffreys, A.J. (1979) DNA sequence variants in the Gγ-, Aγ-, δ- and β-globin genes of man. Cell, 18, 1–10.

    Article  PubMed  CAS  Google Scholar 

  • Jeffreys, A.J., Wilson, V. and Thein, S.L. (1985) Hypervariable ‘minisatellite’ regions in human DNA. Nature, 314, 67–73.

    Article  PubMed  CAS  Google Scholar 

  • Kato, A., Asakai, R., Davie, E.W. and Aoki, N. (1989) Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet. Cell Genet, 52, 77–8.

    Article  PubMed  CAS  Google Scholar 

  • Kan, Y.W. and Dozy, A.M. (1978) Polymorphisms of DNA sequence adjacent to human β-globin structural gene: relation to sickle cell mutation. Proc. Natl. Acad. Sci. USA, 75, 5631–5.

    Article  PubMed  CAS  Google Scholar 

  • Kerem, B.-S., Rommens, J.M., Buchanan, J.A. et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science, 245, 1073–80.

    Article  PubMed  CAS  Google Scholar 

  • Kinzler, K.W., Nilbert, M.C., Su, L.-K. et al. (1991) Identification of FAP locus genes from chromosome 5q21. Science, 253, 661–5.

    Article  PubMed  CAS  Google Scholar 

  • Landouzy, L. and Dejerine, J. (1984) De la myopathy atrophique progressive (myopathy héréditaire débutant dans l’efance, par la face sans altération du système nerveux). C. R. Seances Acad. Sci. (Paris), 98, 53–5.

    Google Scholar 

  • Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA, 81, 3443–6.

    Article  PubMed  CAS  Google Scholar 

  • Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37, 482–98.

    PubMed  CAS  Google Scholar 

  • Lathrop, G.M., O’Connell, P., Leppert, M. et al. (1989) Twenty-five loci form a continuous linkage map of markers for human chromosome 7. Genomics, 5, 866–73.

    Article  PubMed  CAS  Google Scholar 

  • Litt, M. and Luty, J.A. (1989) A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet., 44, 397–401.

    PubMed  CAS  Google Scholar 

  • Lunt, P.W. (1989) A workshop on facioscapulohumeral (Landouzy-Dejerine) disease. J. Med. Genet., 26, 535–7.

    Article  PubMed  CAS  Google Scholar 

  • McKusick, V.A. (1991) Current trends in mapping human genes. FASEB J, 5, 12–20.

    PubMed  CAS  Google Scholar 

  • Milner, E.C.B., Lotshaw, C.L., Willems, van Dijk K. et al. (1989) Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4 [HGM provisional no. D4S139]. Nucleic Acids Res., 17, 4002.

    Article  PubMed  CAS  Google Scholar 

  • Mills, K.A., Mathews, K.D., Xu, Y. et al. (1992) Genetic and physical mapping on chromosome 4 narrows the localization of the gene for FSHD. Am. J. Hum. Genet, 57, 432–9.

    Google Scholar 

  • Morton, N.E. (1955) Sequential tests for the detection of linkage. Am. J. Hum. Genet., 7, 277–318.

    PubMed  CAS  Google Scholar 

  • Munsat, T.L. (1986) Facioscapulohumeral dystrophy and the scapuloperoneal syndrome, in Myology, McGraw Hill, New York.

    Google Scholar 

  • Murray, A.W. and Szostak, J.W. (1983) Construction of artificial chromosomes in yeast. Nature, 305, 189–93.

    Article  PubMed  CAS  Google Scholar 

  • Nakamura, Y., Leppert, M., O’Connell, P. et al. (1987) Variable number of tandem repeat (VNTR) markers for human gene mapping. Science, 235, 1616–22.

    Article  PubMed  CAS  Google Scholar 

  • Ott, J. (1974) Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am. J. Hum. Genet., 26, 588–97.

    PubMed  CAS  Google Scholar 

  • Ott, J. (1985) Analysis of Human Genetic Linkage, Johns Hopkins Univ. Press, Baltimore, MD.

    Google Scholar 

  • Padberg, G.W. (1982) Facioscapulohumeral disease. Thesis, Leiden University.

    Google Scholar 

  • Padberg, G., Eriksson, A.W., Volkers, W.S. et al. (1984) Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy. J. Neurol. Sci., 65, 261–8.

    Article  PubMed  CAS  Google Scholar 

  • Padberg, G.W., Klasen, E.C., Volkers, W.S. et al. (1988) Linkage studies in facioscapulohumeral muscular dystrophy. Muscle Nerve, 11, 833–5.

    Article  PubMed  CAS  Google Scholar 

  • Padberg, G.W., Brouwer, O.F., de Keizer, R.J.W. and Wijmenga, C. (1990) Retinal vascular disease and perception deafness in facioscapulohumeral muscular dystrophy. J. Neurol Sci., 98S, 196–7.

    Google Scholar 

  • Petersen, M.B., Slaugenhaupt, S.A., Lewis, J.G. et al. (1991) A genetic linkage map of 27 markers on human chromosome 21. Genomics, 9, 407–19.

    Article  PubMed  CAS  Google Scholar 

  • Rao, D.C., Keats, B.J.B., Lalouel, J.-M. et al. (1979) A maximum likelihood map of chromosome 1. Am. J. Hum. Genet., 31, 680–96.

    PubMed  CAS  Google Scholar 

  • Renwick, J.R. (1969) Genetic linkage in man, in Computer Applications in Genetics, Univ. Hawaii Press, Honolulu.

    Google Scholar 

  • Renwick, J.H. (1971) The mapping of human chromosomes. Ann. Rev. Genet., 5, 81–120.

    Article  PubMed  CAS  Google Scholar 

  • Royle, N.J., Clarkson, R.E., Wong, Z. and Jeffreys, A.J. (1988) Clustering of hypervariable minisatellites in the proterminal regions of human autosomes. Genomics 3, 352–60.

    Article  PubMed  CAS  Google Scholar 

  • Saiki, R.K., Scharf, S., Faloona, F. et al. (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia. Science, 230, 1350–4.

    Article  PubMed  CAS  Google Scholar 

  • Saiki, R.K., Gelfand, D.H., Stoffel, S. et al. (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239, 487–91.

    Article  PubMed  CAS  Google Scholar 

  • Sarfarazi, M., Huson, S.M. and Edwards, J.H. (1987) An exclusion map for Von Recklinghausen neurofibromatosis. J. Med. Genet., 24, 515–20.

    Article  PubMed  CAS  Google Scholar 

  • Sarfarazi, M., Upadhyaya, M., Padberg, G. et al. (1989) An exclusion map for facioscapulohumeral (Landouzy-Dejerine) disease. J. Med. Genet., 26, 481–4.

    Article  PubMed  CAS  Google Scholar 

  • Sarfarazi, M., Wijmenga, C., Upadhyaya, M. et al. (1992) Regional mapping of facioscapulohumeral disease on 4q35. Combined analysis of an international consortium. Am. J. Hum. Genet, 57, 396–403.

    Google Scholar 

  • Schotland, D.L., Bonilla, E. and Wakayama, Y. (1981) Freeze fracture studies of muscle plasma membrane in human muscular dystrophy. Acta Neuropathol. (Berl) 54, 189–97.

    Article  PubMed  CAS  Google Scholar 

  • Schwarz, D.C. and Cantor, C.R. (1984) Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis. Cell, 37, 67–75.

    Article  Google Scholar 

  • Southern, E. (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol., 98, 503–17.

    Article  PubMed  CAS  Google Scholar 

  • Stallings, R.L., Torney, D.C., Hildebrand, C.E. et al. (1990) Physical mapping of human chromosomes by repetitive sequence fingerprinting. Proc. Natl. Acad. Sci. USA, 87, 6218–22.

    Article  PubMed  CAS  Google Scholar 

  • Van Ommen, G.J.B., Verkerk, J.M.H., Hofker, M.H. et al. (1986) A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell, 47, 499–504.

    Article  PubMed  Google Scholar 

  • Viskochil, D., Buchberg, A.M., Xu, G. et al. (1990) Deletions and a translocation interrupt a cloned gene at a neurofibromatosis type I locus. Cell, 62, 187–92.

    Article  PubMed  CAS  Google Scholar 

  • Vogel, F. and Motulsky, A.G. (1986) Human Genetics, Springer-Verlag, Berlin, Heidelberg, New York.

    Google Scholar 

  • Voit, T., Lamprecht, A., Lenard, H.G. and Goebel, H.H. (1986) Hearing loss in facioscapulohumeral dystrophy. Eur. J. Pediatr., 145, 280–5.

    Article  PubMed  CAS  Google Scholar 

  • Weber, J.L. and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet., 44, 388–96.

    PubMed  CAS  Google Scholar 

  • Weber, J.L. (1989) Length polymorphisms in (dC-dA)n (dG-dT)n sequences detected using the polymerase chain reaction, in Current Communications in Molecular Biology, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.

    Google Scholar 

  • Weber, J. (1990a) Microsatellites and genetic mapping, in Genetic and Physical Mapping, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.

    Google Scholar 

  • Weber, J.L. (1990b) Informativeness of human (dC-dA)n (dG-dT)n polymorphisms. Genomics, 7, 524–30.

    Article  PubMed  CAS  Google Scholar 

  • Weber, J.L. and May, P.E. (1990) Dinucleotide repeat polymorphism at the D4S171 locus. Nucleic Acids Res., 18, 2202.

    Google Scholar 

  • Weiffenbach, B., Bagley, R., Falls, K., et al. (1992) Linkage analysis of five 4q markers in 24 facioscapulohumeral muscular dystrophy (FSHD) families. Am. J. Hum. Genet, 57, 416–23.

    Google Scholar 

  • Wijmenga, C., Frants, R.R., Brouwer, O.F. et al. (1990a) Facioscapulohumeral muscular dystrophy gene not linked to markers for familial polyposis coli on the long arm of chromosome 5. J. Neurol. Sci., 95, 225–9.

    Article  PubMed  CAS  Google Scholar 

  • Wijmenga, C., Frants, R.R., Brouwer, O.F. et al. (1990b) Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet, 336, 651–3.

    Article  PubMed  CAS  Google Scholar 

  • Wijmenga, C., Padberg, G.W., Moerer, P. et al. (1991) Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics, 9, 570–5.

    Article  PubMed  CAS  Google Scholar 

  • Wijmenga, C., Sandkuijl, L.A., Moerer, P. et al. (1992) Genetic linkage map of Facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am. J. Hum. Genet., 57, 411–5.

    Google Scholar 

Download references

Authors
  1. Cisca Wijmenga
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marten H. Hofker
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. George W. Padberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rune R. Frants
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Charing Cross & Westminster Medical School, University of London, UK

    Terence Partridge

Rights and permissions

Reprints and permissions

Copyright information

© 1993 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Wijmenga, C., Hofker, M.H., Padberg, G.W., Frants, R.R. (1993). Genetic mapping of facioscapulohumeral muscular dystrophy. In: Partridge, T. (eds) Molecular and Cell Biology of Muscular Dystrophy. Molecular and Cell Biology of Human Diseases Series. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-1528-5_5

Download citation

  • DOI: https://doi.org/10.1007/978-94-011-1528-5_5

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-4667-1

  • Online ISBN: 978-94-011-1528-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation