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）第13外显子的突变情况。方法提取17例散发型甲状腺髓样癌和4例正常甲状腺组织基因组的DNA,PCR扩增该基因第13外显子全部序列,纯化目的基因DNA后直接序列测定。结果与Genebank比较全部散发型甲状腺髓样癌和正常甲状腺组织在RET基因第18973和18974位点之间均有一个鸟嘌呤插入,插入点位于该基因的第13外显子和第13内含子之间。结论该位点处鸟嘌呤插入不是基因突变,可能为不同人种间基因组差异或Genebank存在错误。
Objective To explore the mutation of RET exon 13 in sporadic medullary thyroid carcinoma. Methods Genomic DNA was extracted from 17 sporadic medullary thyroid carcinoma and 4 cases of normal thyroid tissue. Exon 13 of RET gene was amplified by polymerase chain reaction, analyzed by automated DNA sequencer after purification and compared with Genebank. Results Compared with Genebank, between the position of 18973 and 18974, a ＂ G＂ insert were found in every sporadic medullary thyroid carcinoma and normal thyroid tissue. Conclusion The ＂G＂ insert is not a mutation. It may be the difference of genomic DNA among races or the error of Genebank.
