Frequency and Clinical Implication of the R450H Mutation in the Thyrotropin Receptor Gene in the Japanese Population Detected by Smart Amplification Process 2
Joint Authors
Morimura, Tadashi
Araki, Osamu
Yanagawa, Yoshimaro
Murakami, Masami
Aoki, Tomoyuki
Kotajima, Nobuo
Yanagawa, Masumi
Kimura, Takao
Ogiwara, Takayuki
Tsunekawa, Katsuhiko
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-05-05
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
In Japanese pediatric patients with thyrotropin (TSH) resistance, the R450H mutation in TSH receptor gene (TSHR) is occasionally observed.
We studied the frequency and clinical implication of the R450H mutation in TSHR in the general population of Japanese adults using smart amplification process 2 (SmartAmp2).
We designed SmartAmp2 primer sets to detect this mutation using a drop of whole blood.
We analyzed thyroid function, antithyroid antibodies, and this mutation in 429 Japanese participants who had not been found to have thyroid disease.
Two cases without antithyroid antibodies were heterozygous for the R450H mutation in TSHR.
Thus, the prevalence of this mutation was 0.47% in the general population and 0.63% among those without antithyroid antibodies.
Their serum TSH concentrations were higher than the average TSH concentration not only in subjects without antithyroid antibodies but also in those with antithyroid antibodies.
The R450H mutation in TSHR is relatively common in the Japanese population and potentially affects thyroid function.
The present study demonstrates that the SmartAmp2 method is useful to detect the R450H mutation in TSHR, which is one of the common causes of TSH resistance in the Japanese population.
American Psychological Association (APA)
Tsunekawa, Katsuhiko& Yanagawa, Yoshimaro& Aoki, Tomoyuki& Morimura, Tadashi& Araki, Osamu& Kimura, Takao…[et al.]. 2014. Frequency and Clinical Implication of the R450H Mutation in the Thyrotropin Receptor Gene in the Japanese Population Detected by Smart Amplification Process 2. BioMed Research International،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-511965
Modern Language Association (MLA)
Tsunekawa, Katsuhiko…[et al.]. Frequency and Clinical Implication of the R450H Mutation in the Thyrotropin Receptor Gene in the Japanese Population Detected by Smart Amplification Process 2. BioMed Research International No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-511965
American Medical Association (AMA)
Tsunekawa, Katsuhiko& Yanagawa, Yoshimaro& Aoki, Tomoyuki& Morimura, Tadashi& Araki, Osamu& Kimura, Takao…[et al.]. Frequency and Clinical Implication of the R450H Mutation in the Thyrotropin Receptor Gene in the Japanese Population Detected by Smart Amplification Process 2. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-511965
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-511965