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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

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Summary

The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/ sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2→1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

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Authors and Affiliations

  1. Departments of Obstetrics, Gynecology, and Pediatrics, U-262, University of California, 94143-0720, San Francisco, CA, USA

    Roger V. Lebo, Ma. Theresa Redila-Flores, Eric D. Lynch, Mitchell S. Golbus, Lee A. Anderson, Zharong Jiang, Paul F. Dazin & Steven A. Schonberg

  2. Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA

    Phillip F. Chance

  3. Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Peter J. Dyck

  4. Department of Neurology, University of Washington, Seattle, Washington, USA

    Thomas D. Bird

  5. School of Public Health, University of California, Berkeley, California, USA

    Mary Claire King, Lee A. Anderson & Jeffrey Hall

  6. Department of Histochemistry and Cytochemistry, Leiden University, Leiden, The Netherlands

    Joop Wiegant

  7. St. Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA

    Hope H. Punnett

  8. DNAX Institute of Molecular and Cellular Biology, Palo Alto, California, USA

    Kevin Moore

  9. Department of Molecular Genetics, Biochemistry, and Microbiology, University of Cincinnati, Ohio, USA

    Marcia M. Shull

  10. Imperial Cancer Research Fund, London, UK

    Sandra Gendler

  11. Department of Neurochemistry, Johns Hopkins, Baltimore, Maryland, USA

    Orest Hurko

  12. Department of Neurology, Columbia University, New York, New York, USA

    Robert E. Lovelace & Norman Latov

  13. Department of Medical Genetics, University of Indiana, Indianapolis, Indiana, USA

    James Trofatter & P. Michael Conneally

Authors
  1. Roger V. Lebo
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  2. Phillip F. Chance
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  3. Peter J. Dyck
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  4. Ma. Theresa Redila-Flores
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  5. Eric D. Lynch
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  6. Mitchell S. Golbus
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  7. Thomas D. Bird
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  8. Mary Claire King
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  9. Lee A. Anderson
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  11. Joop Wiegant
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  12. Zharong Jiang
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  14. Hope H. Punnett
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  15. Steven A. Schonberg
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  16. Kevin Moore
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  17. Marcia M. Shull
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  18. Sandra Gendler
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  19. Orest Hurko
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  20. Robert E. Lovelace
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  21. Norman Latov
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  22. James Trofatter
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  23. P. Michael Conneally
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Lebo, R.V., Chance, P.F., Dyck, P.J. et al. Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region. Hum Genet 88, 1–12 (1991). https://doi.org/10.1007/BF00204921

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  • DOI: https://doi.org/10.1007/BF00204921

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