Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
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DOI：
10.1155/2014/964635
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发表时间：
2014
影响因子：
--
通讯作者：
Murakami M
中科院分区：
文献类型：
--
作者：
Tsunekawa K;Yanagawa Y;Aoki T;Morimura T;Araki O;Kimura T;Ogiwara T;Kotajima N;Yanagawa M;Murakami M
在促甲状腺激素（TSH）抵抗的日本儿科患者中，偶尔观察到TSH受体基因（TSHR）的R450 H突变。我们使用智能扩增过程2（SmartAmp 2）研究了日本成年人一般人群TSHR中R450 H突变的频率和临床意义。我们设计了SmartAmp2引物组，使用一滴全血检测这种突变。我们分析了429名未发现甲状腺疾病的日本参与者的甲状腺功能，抗甲状腺抗体和这种突变。2例无抗甲状腺抗体者为TSHR R450H突变杂合子。因此，这种突变的患病率在一般人群中为0.47%，在没有抗甲状腺抗体的人群中为0.63%。他们的血清TSH浓度高于平均TSH浓度，不仅在没有抗甲状腺抗体的受试者，而且在那些与抗甲状腺抗体。TSHR中的R450H突变在日本人群中相对常见，并可能影响甲状腺功能。本研究表明，SmartAmp2方法可用于检测TSHR中的R450H突变，这是日本人群中TSH耐药的常见原因之一。
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.
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影响因子：
1.4
作者：
Ma, Shao-gang;Fang, Pei-hua;Yu, Wei-nan
通讯作者：
Yu, Wei-nan
影响因子：
6.6
作者：
Nagashima, T;Murakami, M;Morikawa, A
通讯作者：
Morikawa, A
DOI：
10.1016/s0006-291x(03)00071-8
发表时间：
2003-02-21
影响因子：
3.1
作者：
Sykiotis, GP;Neumann, S;Papavassiliou, AG
通讯作者：
Papavassiliou, AG
影响因子：
6.6
作者：
Tsunekawa, Katsuhiko;Onigata, Kazumichi;Murakami, Masami
通讯作者：
Murakami, Masami
影响因子：
5
作者：
Chang, Wei-Chiao;Liao, Cheng-Yu;Chao, Mei-Chyn
通讯作者：
Chao, Mei-Chyn