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

Roger V. Lebo, Phillip F. Chance, Peter J. Dyck, Ma Theresa Redila-Flores, Eric D. Lynch, Mitchell S. Golbus, Thomas D. Bird, Mary Claire King, Lee A. Anderson, Jeffrey Hall, Joop Wiegant, Zharong Jiang, Paul F. Dazin, Hope H. Punnett, Steven A. Schonberg, Kevin Moore, Marcia M. Shull, Sandra Gendler, Orest Hurko, Robert E. LovelaceNorman Latov, James Trofatter, P. Michael Conneally

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1-12
Number of pages12
JournalHuman genetics
Volume88
Issue number1
DOIs
StatePublished - Nov 1 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Lebo, R. V., Chance, P. F., Dyck, P. J., Redila-Flores, M. T., Lynch, E. D., Golbus, M. S., Bird, T. D., King, M. C., Anderson, L. A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P. F., Punnett, H. H., Schonberg, S. A., Moore, K., Shull, M. M., Gendler, S., Hurko, O., ... Conneally, P. M. (1991). Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region. Human genetics, 88(1), 1-12. https://doi.org/10.1007/BF00204921