散发型甲状腺髓样癌RET基因第11外显子序列分析  

Genetic analysis of RET exon 11 in sporadic medullary thyroid carcinomas

作　　者：赵吉生[1] 盖宝东[1] 张学文[1] 森隆弘[2] 滕盛启成[2] 大内宪名[2] 里见进[3] 张德恒[1] 

机构地区：[1]吉林大学中日联谊医院基本外科,长春130031 [2]日本东北大学医学部肿瘤外科 [3]日本东北大学医学部先进外科

出　　处：《中华普通外科杂志》2003年第12期736-737,共2页Chinese Journal of General Surgery

基　　金：吉林省卫生厅医学科研基金资助课题 2 0 0 2 0 46;中日甲状腺疾病合作研究项目 (1993 )资助

摘　　要：目的分析散发型甲状腺髓样癌RET基因第 11外显子碱基序列 ,明确RET基因突变与散发型甲状腺髓样癌的关系。方法提取 17例散发型甲状腺髓样癌基因组DNA ,PCR扩增RET基因第 11外显子 ,PCR产物经纯化后直接测序。结果分析测序图发现 1例病例在该基因第15 16 5位碱基处G→A突变 ,导致丝氨酸691→赖氨酸错意突变。结论散发型甲状腺髓样癌RET基因第 11外显子基因突变率较低 ;散发型甲状腺髓样癌致病的关键基因可能位于该基因的其他外显子或其他基因上。Objective To explore the mutation of RET gene exon 11 in sporadic medullary thyroid carcinoma and to clarify the relationship between RET mutation and sporadic medullary thyroid carcinomas. Methods Genomic DNA was extracted from 17 sporadic medullary thyroid carcinoma tissues. Exon 11 of RET gene was amplified by polymerase chain reaction, analyzed by automated DNA sequencer after purification and results were compared with normal sequence. Results RET mutation was detected in 1 of 17 cases and the mutation revealed the wrong base at the position 15165(G→A) and the missense codon at 691 (ser 691 →lys). Conclusion The low rate of RET exon 11 mutation in sporadic medullary thyroid carcinomas indicate that the key gene mutations may locate on other exons of RET gene or other genes.

关 键 词：散发型甲状腺髓样癌 RET基因 第11外显子 序列分析 

分 类 号：R736.1[医药卫生—肿瘤]