Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2
| Autor: | Osamu Araki, Yoshimaro Yanagawa, Nobuo Kotajima, Tomoyuki Aoki, Tadashi Morimura, Masumi Yanagawa, Takayuki Ogiwara, Katsuhiko Tsunekawa, Masami Murakami, Takao Kimura |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male medicine.medical_specialty endocrine system Heterozygote Article Subject endocrine system diseases Population Thyroid Gland lcsh:Medicine Thyrotropin Polymerase Chain Reaction General Biochemistry Genetics and Molecular Biology Thyrotropin receptor Asian People Japan Mutation Rate Internal medicine Medicine Humans Receptor education Aged Autoantibodies Aged 80 and over education.field_of_study General Immunology and Microbiology biology business.industry Thyroid disease lcsh:R Receptors Thyrotropin General Medicine Middle Aged medicine.disease eye diseases Endocrinology Amino Acid Substitution Mutation (genetic algorithm) biology.protein Female Primer (molecular biology) Thyroid function Antibody business hormones hormone substitutes and hormone antagonists Research Article |
| Zdroj: | BioMed Research International BioMed Research International, Vol 2014 (2014) |
| ISSN: | 2314-6141 |
| Popis: | 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 inTSHRin 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 inTSHR. 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 inTSHRis 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 inTSHR, which is one of the common causes of TSH resistance in the Japanese population. |
| Databáze: | OpenAIRE |
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