title: Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
abstract: 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.
authors.affiliation: Richard Ivey Center for Molecular Biology, University Hospital, London, Ontario, Canada.
authors.forename: J A
authors.initials: JA
authors.lastname: Abdalla
authors.forename: W L
authors.initials: WL
authors.lastname: Casley
authors.forename: H K
authors.initials: HK
authors.lastname: Cousin
authors.forename: A J
authors.initials: AJ
authors.lastname: Hudson
authors.forename: E G
authors.initials: EG
authors.lastname: Murphy
authors.forename: F C
authors.initials: FC
authors.lastname: Cornélis
authors.forename: L
authors.initials: L
authors.lastname: Hashimoto
authors.forename: G C
authors.initials: GC
authors.lastname: Ebers
mesh_terms: D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009224:Myotonia Congenita / Q000235:genetics*; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D009838:Oligodeoxyribonucleotides; D016693:Receptors, Antigen, T-Cell, alpha-beta