促甲状腺激素受体膜外区基因突变与毒性多结节性甲状腺肿的相关性研究  

Relation between extracellular region mutations of thyrotropin receptor and toxic multi-nodular goiter

作　　者：王永行 马荣龙 王凤军[2] WANG Yong-hang;MA Rong-long;WANG Feng-jun(Department of General Surgery,General Hospital of Puyang Oil Field Affiliated with Xinxiang Medical University,Puyang 457400,China;Department of Liver Surgery,First Affiliated Hospital of Harbin Medical University,Harbin 150000,China)

机构地区：[1]河南省新乡医学院附属濮阳市油田总医院甲状腺乳腺外科,河南濮阳457001 [2]哈尔滨医科大学第一附属医院肝脏外科,黑龙江哈尔滨150000

出　　处：《中国现代普通外科进展》2023年第2期98-100,共3页Chinese Journal of Current Advances in General Surgery

摘　　要：目的:探讨毒性多结节性甲状腺肿(TMG)促甲状腺激素受体(TSHR)膜外区基因突变情况。方法:将12例TMG患者手术切除的病变组织及其周围正常甲状腺组织行光镜检查,提取基因DNA,对TSHR膜外区行PCR、DNA测序。结果:12例TMG标本中发现3例存在膜外区基因突变(3/12,25%),其中1例为点突变,另2例为移码突变;对照组未见基因改变。结论:TSHR的膜外区基因突变可能在TMG发生中发挥一定作用。Objective:To explore extracellular region mutations of thyrotropin receptor(TSHR)of toxic multi-nodular goiter(TMG).Methods:Lesion nodules specimens and peripherally normal specimens adjacent to the lesion nodules were obtained from 12 cases diagnosed as TMG.They were examined by pathology and genomic.DNAs,isolated from lesion nodules and peripheral specimens of 12 TMGs.After amplfying the related regions,The precise localization of the mutations was identified by automatic DNA sequence analysis.Result:Extracellular region mutations of thyrotropin receptor were identified in 3 of 12 TMGs(25%).1 samples had point mutation and 2 samples had frame-shiftly mutation.while in the control,no mutation of TSHR was found.Conclution:The extracellular region mutations may play an important role in the pathogenesis of TMG.

关 键 词：甲状腺肿 结节性 促甲状腺激素 受体 突变 

分 类 号：R581[医药卫生—内分泌]