促甲状腺激素受体第三胞内环基因突变与乳头状甲状腺癌关系探讨

A preliminary study of gene mutation in the third cytoplasmic loop of the thyroid stimulating hormone receptor among papillary thyroid carcinoma patients

目的研究乳头状甲状腺癌发病是否与促甲状腺激素受体(TSHR)第三胞内环基因突变有关。方法采用聚合酶链反应-单链构象多态性分析(PCRSSCP)及DNA测序方法,对65例乳头状甲状腺癌和44例甲状腺正常组织(对照)TSHR第三胞内环基因突变进行检测。结果经PCRSSCP检测65例乳头状甲状腺癌TSHR第三胞内环未发现明显带型异常,取2例对照组织和3例癌组织进行DNA测序,5例组织TSHR2000位点碱基均由C→T,使得所编码的601位氨基酸由组氨酸(CAT)→酪氨酸(TAT),余无明显基因突变。结论乳头状甲状腺癌发病与TSHR第三胞内环基因突变无关;中国人TSHR基因与国外人群存在多态性差异。

Objective To investigate the correlation between the gene mutation in the third cytoplasmic loop of the thyroid stimulating hormone（TSH） receptor （TSHR）and Papillary thyroid carcinoma. Methods The third cytoplasmic loop of the TSHR was analyzed by an approach of combination of polymerase chain reaction and single strand conformation polymorphism （PCR-SSCP）, followed by DNA sequencing in a total of 65 Papillary thyroid carcinoma patients and 44 control individuals. Results Abnormal mobility of SSCP band was not found neither in Papillary thyroid carcinoma samples, nor in controls. The samples from 2 controls and 3 Papillary thyroid carcinomas were further sequenced , and the results showed that the nucleotide position 2000 （the first base of co〈Ion 601） has the C→T transmission （CAT → TAT）. Conclusion The gene mutation identified in the third cytoplasmic loop of the TSHR showed no association with the occurrence of Papillary thyroid carcinoma, and the C→T transmission in TSH could be an ethnic-specific polymorphism marker occurred in Chinese population.