散发型甲状腺髓样癌RET基因突变的研究  

Study on mutation of RET gene in sporadic medullary thyroid carcinoma

作　　者：盖宝东[1] 金仲田[2] 森隆弘[2] 张德恒[1] 滕盛启成[2] 里见进[2] 郑泽霖[1] 

机构地区：[1]吉林大学中日联谊医院基本外科,吉林长春130031 [2]日本东北大学先进外科

出　　处：《吉林大学学报（医学版）》2002年第6期618-620,共3页Journal of Jilin University：Medicine Edition

基　　金：中日甲状腺疾病基础研究合作项目

摘　　要：目的 :研究散发型甲状腺髓样癌酪氨酸激酶受体基因 ( RET)的突变情况。方法 :提取1 7例中国人散发型甲状腺髓样癌基因组 DNA,PCR扩增该基因第 1 3外显子全部序列 ,纯化目的基因 DNA后直接序列测定。结果 :分析测序图发现所有散发型甲状腺髓样癌在该基因的第 1 8973和 1 8974位点之间均有一个鸟嘌呤插入突变 ,插入突变位于该基因的第 1 3外显子和内含子之间。结论 :此位点突变对酪氨酸激酶受体蛋白表达的影响和在散发型甲状腺髓样癌的发生。Objective:To explore the mutation of receptor tyrosine kinase ( RET ) gene in sporadic medullary thyroid carcinoma. Methods:Genomic DNA was extracted from 17 sporadic medullary thyroid carcinoma samples. Exon 13 of ret gene was amplified by PCR, analyzed by automatic DNA sequencer after purification and compared with normal sequence. Results: A G insert mutation was found between the position of 18973 and 18974 in every tumor case. Conclusion:The role of the point gene mutation between exon and intron 13 needs to be investigated furthermore.

关 键 词：散发型甲状腺髓样癌 酪氨酸激酶受体基因 基因突变 

分 类 号：R736.1[医药卫生—肿瘤]