【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、发展过程中所起的作用有待进一步研究更多还原

【Abstract】 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.更多还原