Neurogenetics

, Volume 1, Issue 2, pp 151–152

Further exclusion of FSHD1B from the telomeric region of 10q

  • M.C. Speer
  • M.A. Pericak-Vance
  • J.M. Stajich
  • J. Sarrica
  • M. Jordan
  • A.D. Roses
  • J.M. Vance
  • J.R. Gilbert
SHORT COMMUNICATION

ABSTRACT

The localization of the gene for the majority of cases of facioscapulohumeral muscular dystrophy is established as 4q35-qter (FSHD1A), although locus heterogeneity has been demonstrated with a minority of families unlinked to 4q. In FSHD1A, the disease is associated with a deletion of 3.3 kb repeats from a tandem repeat located near the as-yet-unidentified gene. This repeat cross-hybridizes with a telomeric region on 10q, making this cross-hybridizing region a feasible candidate gene for FSHD1B. We have tested the most telomeric marker on 10q (sAVA4) and excluded ∼17 cM on either side of this marker as harboring the FSHD1B gene.

Keywords: facioscapulohumeral muscular dystrophy, heterogeneity, linkage analysis 

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • M.C. Speer
    • 1
  • M.A. Pericak-Vance
    • 1
  • J.M. Stajich
    • 1
  • J. Sarrica
    • 1
  • M. Jordan
    • 1
  • A.D. Roses
    • 2
  • J.M. Vance
    • 2
  • J.R. Gilbert
    • 2
  1. 1.Duke University Medical Center, Department of Medicine, Section of Medical Genetics, Durham, NC 27710, USAUS
  2. 2.Duke University Medical Center, Department of Medicine, Division of Neurology, Durham, NC 27710, USAUS

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