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

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

doi:10.1507/endocrj.47.365

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

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

Apheresis and Dialysis Center

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	365-372
Number of pages	8
Journal	Endocrine journal
Volume	47
Issue number	3
DOIs	https://doi.org/10.1507/endocrj.47.365
Publication status	Published - 2000 Jun

Keywords

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

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1507/endocrj.47.365

Cite this

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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.",

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AU - Aoshima, Hideyuki

AU - Yoshida, Tadashi

AU - Kobayashi, Shinya

AU - Mizushima, Yutaka

AU - Kawai, Shinichi

PY - 2000/6

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AB - 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.

KW - Familial hyperthyroidism

KW - Polymerase chain reaction direct sequencing

KW - Restriction fragment length polymorphism

KW - Thyrotropin receptor gene

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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