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

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.