Clinical application of the detection of the mutation in TSH receptor gene using a novel rapid gene analyzing method

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The R450H mutation in the TSH receptor gene (TSHR), observed frequently in Japanese patients with TSH resistance, may affect not only newborn but also adult thyroid function in Japanese. Detection of this mutation will be useful for examining the cause of hypothyroidism in Japanese. We developed the primer set to detect the R450H mutation in TSHR by a novel rapid gene analyzing technique, SmartAmp, investigated the frequency of this mutation and analyzed the association between this mutation and thyroid function in Japanese adults.