摘要
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)第十外显子基因突变有关。方法 采用NEST-PCR-SSCP(巢氏多聚酶联反应 -单链构象多态性分析 )方法及DNA测序方法,对 65例乳头状甲状腺癌和 44例对照组织TSHR第十外显子基因进行检测。结果 经NEST-PCR-SSCP检测,65例乳头状甲状腺癌TSHR第十外显子未发现明显带型异常,第三片段取 2例对照组织和 3例甲状腺癌组织进行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) (His→Tyr),余无明显基因突变。结论 乳头状甲状腺癌TSHR第十外显子未发现基因突变,提示乳头状甲状腺癌发病与TSHR第十外显子基因突变无关;由于所测 5例标本 601位氨基酸均为酪氨酸,考虑中国人TSHR基因与国外人群存在差异。
Objective To investigate the correlation between the gene mutation in exon 10 of the thyroid stimulating hormone(TSH) receptor and papillary thyroid carcinoma. Methods The exon 10 of the TSH receptor was analyzed by an approach of combination of nest polymerase chain reaction and single strand conformation polymorphism(nest-PCR-SSCP), followed by DNA sequencing in a total of 65 samples from papillary thyroid carcinoma patients by reference to 44 control individuals. Results Abnomal mobility of SSCP band was not found netither in papillary thyroid carcinoma samples, nor in controls. The samples from 2 controls and 3 papillary thyroid carcinomas were further sequenced for the targeted 3rd fragment in exon 10 , and the results showed that the nucleotide position 2000 (the first base of codon 601) has the C→T transmission (CAT and TAT), resulting in a substitution of His to Tyr. There was no mutation detected in other fragments. Conclusion The gene mutation identified in the exon 10 of the TSH receptor 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.
出处
《现代肿瘤医学》
CAS
2005年第1期24-26,共3页
Journal of Modern Oncology
基金
深圳市科技局资金项目(编号: 200104014)
