钠碘转运体、甲状腺过氧化物酶、Ⅰ型脱碘酶基因在桥本甲状腺炎合并乳头状癌患者中的作用

The role of Na/I symporter, thyroid peroxidase and type 1 iodothyronine deiodinase gene in the pathogenesis of hashimoto＇ s thyroiditis coexistent with papillary thyroid carcinoma

目的观察甲状腺钠碘转运体（NIS）、过氧化物酶（TPO）、Ⅰ型脱碘酶（DIOI）基因突变在桥本甲状腺炎（HT）合并乳头状癌（PTC）患者发病中的作用。方法选择34例HT合并PTC的患者作为病例组和26例HT患者作对照组，在病理切片指导下获取HT和PTC组织标本并提取其基因组DNA，对目的基因片段进行聚合酶链反应（PCR）及DNA测序。结果未见NIS基因变化，发现6种TPO基因点突变和1种碱基插入性突变，同时可见3种DIOI基因点突变，两组突变率差异有统计学意义（P〈0．05），同时在病例组不同的促甲状腺激素（TSH）水平突变率不同（P〈0。05）。结论TPO、DIOI等基因突变在HT合并PTC的形成中发挥显著作用。

Objective To investigate the role of Na/I symporter （NIS）, thyroid peroxidase （TPO） and type 1 iodothyronine deiodinase （DIOI） mutation in the pathogenesis of Hashimoto＇ s thyroidi- tis （HT） coexistent with papillary thyroid carcinoma （PTC）. Methods Thirty-four HT patients with PTC were selected as subjects and 26 cases of HT as controls. The genomic DNA of the specimens was extracted. By using polymerase chain reaction （PCR）, interesting fragments were obtained and sequenced. Re- sults Among 34 patients of HT with PTC, no PCR products were found with the mutation in the NIS gene. Ten out of 34 patients and 2 out of 26 controls had 6 TPO point mutations and 1 insertion mutation, and 5 of out of 34 patients and 1 out of 26 controls had 3 DIOI point mutations. Statistical analysis showed there was significance in mutation positivity between HT with PTC and HT. In addition, mutation positivity had significant difference between patients with different thyroid function in HT and PTC group （ P 〈 0. 05 ）. Conclusion It is possible that TPO and DIOI gene mutation had a potential molecular biological link with the two diseases.