首页|分化型甲状腺癌病人NIS基因突变的检测

分化型甲状腺癌病人NIS基因突变的检测

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目的 研究分化型甲状腺癌(DTC)病人钠碘同向转运体(NIS)基因突变类型和特点,初步探讨其基因型和表现型的关系.方法 从50例DTC病人的甲状腺癌组织及正常甲状腺组织中提取基因组DNA,采用PCR扩增和直接测序的方法对NIS基因全部外显子进行基因突变的检测.结果 在2例病人甲状腺癌组织中发现位于NIS基因第10外显子的1个基因突变(c.1571 C>T,p.Leu 408=),尽管密码子发生变化,但是两组密码子均编码亮氨酸.正常甲状腺组织中未发现基因突变.甲状腺癌组织和正常甲状腺组织NIS基因突变频率差异无统计学意义(P>0.05).结论 NIS基因突变可能与青岛地区DTC无相关性,检测到的同义突变在甲状腺摄碘过程中不起主要作用.
NIS MUTATIONS IN PATIENTS WITH DIFFERENTIATED THYROID CANCER
Objective To determine the type and features of sodium/iodide symporter gene (NIS) mutations in patients with differentiated thyroid cancer (DTC),and to examine the relationship between the genotype and phenotype of these mutations.Methods Genomic DNA was extracted from the thyroid cancer tissues and normal thyroid tissues of 50 DTC patients.Mutations in all exons of the NIS gene were detected by PCR amplification and direct sequencing.Results A mutation (c.1571 C>T,p.Leu 408=) was identified in exon 10 of the NIS gene in the tumor tissues of two patients;the mutant codon still encoded the same amino acid (leucine) as the wild-type.No mutation was found in normal tissues.There was no significant difference in the frequency of NIS mutations between tumor tissues and normal tissues (P>0.05).Conclusion NIS mutations may not be associated with DTC in Qingdao,China,and the same-sense mutation detected in this study may not play a major role in iodine uptake in the thyroid.

thyroid neoplasmssodium/iodide symportermutation

位俊慧、李贤、郝风云、林东亮、刘世国、孙振青

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青岛大学附属医院普外科,山东青岛 266003

城阳人民医院甲乳外科

青岛大学附属医院病理科

青岛大学附属医院产前诊断中心

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甲状腺肿瘤 钠碘同向转运体 突变

2017

齐鲁医学杂志
青岛大学医学院

齐鲁医学杂志

影响因子:0.609
ISSN:1008-0341
年,卷(期):2017.32(5)
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