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

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

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)365-372
ページ数8
ジャーナルEndocrine journal
47
3
DOI
出版ステータスPublished - 2000 6

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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