【摘要】 目的 探讨乳头状甲状腺癌的发病是否与促甲状腺激素受体(TSHR)第3胞内环基因突变相关。方法 采用多聚酶联反应-单链构象多态性分析(PCR-SSCP)和DNA测序方法，对65例乳头状甲状腺癌和44例正常甲状腺组织TSHR第3胞内环基因进行检测。结果 经PCR-SSCP检测乳头状甲状腺癌促甲状腺激素受体(TSHR)第3胞内环未发现明显带型异常；取2例对照组织和3例甲状腺癌组织进行DNA测序，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)突变(His→Tyr)，余未发现其他基因突变。结论 乳头状甲状腺癌发病与TSHR第3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。

    【关键词】 乳头状甲状腺癌 促甲状腺激素受体 基因突变 单链构象多态性性分析

    Preliminary Study of Gene Mutation in the Third Cytoplasmic Loop of the Thyroid Stimulating Hormone Receptor among Papillary Thyroid Cancer Patients

    Lan Wei,et al.

    (Department of Endocrinology,Peking University Shenzhen Hospital,Shenzhen 518036,China)

    【Abstract】 Objective To investigate the correlation between the gene mutation in the third cytoplasmic loop of the thyroid stimulating hormone receptor (TSHR) and papillary thyroid cancer.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 samples from papillary thyroid cancer patients and 44 controls.Results Abnormal mobility of SSCP band was found neither in papillary thyroid cancer patients nor in controls.The samples from 2 controls and 3 papillary thyroid cancer were further sequenced for the targeted third cytoplasmic loop in TSHR,and the results showed that the nucleotide site 2000 (the first base of cordon 601) had a in a C→T transmission (CAT→TAT),resulting in a substitution of His to Tyr.Conclusions The gene mutation identified in the third cytoplasmic loop of the TSH receptor shows no association with the occurrence of papillary thyroid cancer,and the C→T transmission in TSH is an ethnic-specific polymorphism marker occurred in Chinese population. ......