Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism

Hideyuki Aoshima, Tadashi Yoshida, Shinya Kobayashi, Yutaka Mizushima, Shinichi Kawai

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)365-372
Number of pages8
JournalEndocrine journal
Issue number3
Publication statusPublished - 2000 Jun


  • Familial hyperthyroidism
  • Polymerase chain reaction direct sequencing
  • Restriction fragment length polymorphism
  • Thyrotropin receptor gene

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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