TSH受体基因SNP与Graves病、桥本甲状腺炎和结节性甲状腺肿之间的相关性研究  

Study on the relationship between SNP in TSH receptor gene and Graves′ disease, Hashimoto′s thyroiditis and multinodular thyroid goiter

作　　者：梁军[1] 赵家军[1] 高聆[2] 钟霞[1] 张丽[1] 章国卫[3] 盛燕[3] 阮铮[3] 陈漪[3] 宋怀东[3] 陈家伦 

机构地区：[1]山东大学山东省立医院内分泌科,济南250021 [2]山东大学山东省立医院中心实验室,济南250021 [3]上海第二医科大学附属瑞金医院人类基因组国家重点实验室 [4]上海市内分泌代谢病研究所

出　　处：《中华内分泌代谢杂志》2004年第6期510-513,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金资助项目 (30 4 70 81 5) ;山东省科技发展计划资助项目 (2 0 0 3年 33)

摘　　要：目的　探讨TSH受体基因单核苷酸多态性 (SNP)与甲状腺疾病〔包括Graves病 (GD) ,结节性甲状腺肿 ,桥本甲状腺炎 (HT)〕有无相关性。方法　以 60例有甲状腺疾病家族史患者 (其中 3 0例GD、10例HT、2 0例结节性甲状腺肿患者 ) ,48例散发Graves病患者及 96名健康对照者作为研究对象 ,采用外周血白细胞抽提DNA ,设计引物 ,PCR扩增 ,对扩增产物纯化后测序。结果患者中共发现 8个多态位点 ,其中第8外显子上的多态位点 (E8A + 40C)在SNP库中未见报道 ,为首次发现 ;将这些多态位点基因型变化与正常组比较 ,无明显统计学差异。结论　本研究提示汉族人TSH受体基因与这几种甲状腺疾病无相关性 ;该基因的多态位点在不同的人种间存在明显差异。Objective To obtain more information concerning single nucleotide polymorphism (SNP) of TSH receptor (TSHR) gene in Graves′ disease(GD), Hashimoto′s thyroiditis (HT) and multinodular thyroid goiter. Methods Sixty patients with familiar thyroid diseases (including 30 cases of GD, 20 multinodular thyroid goiter, 10 HT), 48 sporadic patients with GD and 96 healthy control individuals took part in this study. Genomic DNA was extracted from peripheral leukocytes isolated from ACD-anticoagulated blood by standard method with phenol and chloroform. All 10 exons of the gene were amplified by PCR. After purified, the PCR products were sequenced. Results Eight polymorphism sites were found in patients. A novel polymorphism type was found in exon 8 (E8A+40C). There were no significant differences in SNP between patients and controls. Conclusion These findings suggest that the polymorphism of the TSHR gene may not be responsible for these thyroid diseases in Chinese Han. The racial differences in the distribution of polymorphisms of TSHR gene are evident.

关 键 词：TSH受体 结节性甲状腺肿 患者 GRAVES病 桥本甲状腺炎 甲状腺疾病 基因 单核苷酸多态性(SNP) 人种 外显子 

分 类 号：R581[医药卫生—内分泌] R742.5[医药卫生—内科学]