Study on TRβ gene mutation in a thyroid hormone resistance associated with Hashimoto’s thyroiditis family
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    Abstract:

    Objective:To study the gene mutation of thyroid hormone receptorβ(TRβ)in a family with thyroid hormone resistance syndrome accompanied by Hashimoto’s thyroiditis. Methods:The peripheral blood samples of the patient,9 family members and 9 healthy subjects were collected,then thyroid function was detected and the genomic DNA was isolated. The exons 1~10 of TRβ gene were amplified by PCR. The products of PCR were purified and sequenced directly to detect the gene mutation. Results:No mutation was found in exon 1~10 of TRβ gene. Conclusion:The mutation of TRβ gene is not only reason for the pathogenesis of thyroid hormone resistance syndrome.

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申红梅,刘翠萍,茅晓东,刘〓超.一甲状腺激素抵抗综合征伴桥本甲状腺炎家系TRβ基因突变分析[J].南京医科大学学报(自然科学版英文版),2010,(3):394-398.

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