甲状腺乳头状癌TRβ1基因第7外显子突变的研究

TRβ_1 gene exon7 mutations in papillary thyroid carcinoma

目的:检测TRβ1基因exon7在甲状腺乳头状癌中的突变率,探讨其在甲状腺癌发生发展中的作用。方法:采用多聚酶联反应-单链构象多态性分析(PCR-SS-CP)和DNA测序方法,对82例甲状腺乳头状癌和10例对照组TRβ1基因exon7进行检测。结果:经PCR-SSCP技术筛选,82例甲状腺乳头状癌中有2例出现异常条带,经DNA测序该2例样本未发现TRβ1基因exon7突变点。结论:甲状腺乳头状癌发生与TRβ1基因exon7突变无相关性,但研究报道该基因在波兰人乳头状癌中突变率较高,其突变的发生是否与民族和种族相关还有待进一步的研究。

OBJECTIVE：To characterize the mutation frequen cy of TRβ1 exon7 in thyroid papillary carcinoma,and assess the role of TRβ1 exon7 on changes in thyroid papillary carcinoma. METHODS： Using polymerase chain reaction single strand conformation polymorphism analysis （PCR SSCP） and DNA sequencing meth ods, 82 cases of papillary thyroid carcinoma and 10 controls were tested on TRβ1 gene exon7. RESULTS： Detected by PCR-SSCP, 2 of 82 cases thyroid papillary carcinoma were abnormal,and the two cases of sample were not found TRβ1 gene exon7 mutating by DNA sequencing. CONCLUSION： The occurrence of papillary thyroid carcinoma has no correlation with TRβ1 gene exon7 mutation, but the study reports that the gene mutation in Poland papillary carcinoma is high, the mutation occur whether related to ethnic and racial groups still needs further research.