摘要
目的研究甲状腺激素抵抗综合征患者甲状腺激素受体β(thyroid hormone receptorβ,TRβ)基因突变情况。方法提取1例患者外周血基因组DNA,PCR分段扩增THRβ基因的第7～10外显子,产物纯化后直接进行DNA测序检测突变。结果该患者TRβ基因第7～10外显子未发现突变位点。结论 TRβ基因突变并不是导致甲状腺激素抵抗综合征的唯一因素。
Objective To study the gene mutation of the thyroid hormone receptor β in a patient with thyroid hormone resistance syndrome. Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient, the exons 7-10 of TR; gene were amplified by PCR. The products of PCR were purified and sequenced directly to detect the gene mutation. Results No TR; gene mutation was found in the patient. Conclusion The mutation of TR; gene is not the only reason for pathogenesis of thyroid resistance syndrome.
出处
《西部医学》
2013年第2期232-234,共3页
Medical Journal of West China
基金
国家自然科学基金(30900658
81100303)
