title: Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism.
abstract: Mutations of the thyrotropin receptor (TSH-R) gene have been reported in some cases of hyperthyroidism. We report a case of a family that had a high incidence of hyperthyroidism (6/13) which strongly suggested hereditary factors. We then analyzed whether the family had mutations of the TSH-R gene. No significant mutations in exon 10 of the TSH-R gene were found in the patient by restriction fragment length polymorphism analysis and polymerase chain reaction direct sequencing, when compared with those with 4 normal subjects and 2 patients with Graves' disease. Unknown mutations in the extracellular region of the receptor or other genes in this family remain to be studied.
authors.affiliation: Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Aoshima
authors.forename: T
authors.initials: T
authors.lastname: Yoshida
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Mizushima
authors.forename: S
authors.initials: S
authors.lastname: Kawai
mesh_terms: D005091:Exons; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011989:Receptors, Thyrotropin / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D011989:Receptors, Thyrotropin