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

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 inact...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of human genetics Vol. 51; no. 3; pp. 579 - 584
Main Authors:	ABDALA, J. A, CASLEY, W. L, COUSIN, H. K, HUDSON, A. J, MURPHY, E. G, CORNELIS, F. C, HASHIMOTO, L, EBERS, G. C
Format:	Journal Article
Language:	English
Published:	Chicago, IL University of Chicago Press 01-09-1992
Subjects:	ANIMAL CELLS Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MATERIALS BLOOD BLOOD CELLS BODY FLUIDS chromosome 7 CHROMOSOMES Chromosomes, Human, Pair 7 CONGENITAL DISEASES CONNECTIVE TISSUE CELLS DISEASES Diseases of striated muscles. Neuromuscular diseases Female gene mapping genes Genetic Linkage - genetics GENETIC MAPPING HEREDITARY DISEASES HUMAN CHROMOSOME 7 HUMAN CHROMOSOMES Humans LEUKOCYTES linkage analysis Lod Score LYMPHOCYTES lymphocytes T Male man MAPPING MATERIALS Medical sciences Molecular Sequence Data MUSCLES myotonia Myotonia Congenita - genetics Neurology Oligodeoxyribonucleotides - genetics Pedigree Polymerase Chain Reaction Polymorphism, Genetic - genetics Receptors, Antigen, T-Cell, alpha-beta - genetics Repetitive Sequences, Nucleic Acid - genetics SOMATIC CELLS 550400 > Genetics T-cell receptor Human Neuromuscular diseases Nervous system diseases Linkage T cell receptor Congenital Family study Myotonia Exploration C7-Chromosome Genetic disease Polymerase chain reaction Genetics Molecular biology
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 None
ISSN:	0002-9297 1537-6605