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 journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)365-372
Number of pages8
JournalEndocrine Journal
Volume47
Issue number3
Publication statusPublished - 2000 Jun

Fingerprint

Thyrotropin Receptors
Hyperthyroidism
vpr Genes
Mutation
DNA
Graves Disease
Restriction Fragment Length Polymorphisms
Exons
Polymerase Chain Reaction
Incidence
Genes

Keywords

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

ASJC Scopus subject areas

  • Endocrinology

Cite this

Aoshima, H., Yoshida, T., Kobayashi, S., Mizushima, Y., & Kawai, S. (2000). Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism. Endocrine Journal, 47(3), 365-372.

Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism. / Aoshima, Hideyuki; Yoshida, Tadashi; Kobayashi, Shinya; Mizushima, Yutaka; Kawai, Shinichi.

In: Endocrine Journal, Vol. 47, No. 3, 06.2000, p. 365-372.

Research output: Contribution to journalArticle

Aoshima, H, Yoshida, T, Kobayashi, S, Mizushima, Y & Kawai, S 2000, 'Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism', Endocrine Journal, vol. 47, no. 3, pp. 365-372.
Aoshima, Hideyuki ; Yoshida, Tadashi ; Kobayashi, Shinya ; Mizushima, Yutaka ; Kawai, Shinichi. / Genomic DNA analysis of thyrotropin receptor in a family with hereditary hyperthyroidism. In: Endocrine Journal. 2000 ; Vol. 47, No. 3. pp. 365-372.
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