Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35

Am J Hum Genet. 1992 Sep;51(3):579-84.


The chromosomal localization of the gene for Thomsen disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen disease locus. Linkage analysis of Thomsen disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). We conclude that the Thomsen disease locus is linked to the TCRB locus in these families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 7*
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Myotonia Congenita / genetics*
  • Oligodeoxyribonucleotides / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics
  • Receptors, Antigen, T-Cell, alpha-beta / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics


  • Oligodeoxyribonucleotides
  • Receptors, Antigen, T-Cell, alpha-beta