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目的研究不同人种散发型甲状腺髓样癌(sMTC)酪氨酸激酶受体基因(RET)第 918位点基因突变及意义。方法提取17例中国人sMTC基因组DNA,聚合酶链反应(PCR)扩增 RET基因第16外显子,PCR产物经纯化后直接测序,分析中国人sMTC RET基因第918位点处基因突变,并与文献报道的其他人种sMTC该位点处基因突变比较。结果中国人sMTC此位点处未发现基因突变;黄种人、白种人、棕种人此位点处基因突变率分别为:7．1％、33．5％、50．0％,基因突变形式均为ATG→ACG点突变。白种人与黄种人,棕种人与黄种人间比较均差异有统计学意义 (P<0．05)。结论中国人sMTC发病与RET基因第918位点处基因突变无关;不同人种sMTC此位点处基因突变率有差异;不同人种sMTC发病的基因基础可能不同。
Objective To investigate the gene mutation of tyrosine kinase receptor gene (RET) at the site 918 of different human germinal medullary thyroid carcinoma (sMTC) and its significance. Methods 17 cases of Chinese sMTC genomic DNA were extracted. The 16 exons of RET gene were amplified by polymerase chain reaction (PCR). The purified PCR products were directly sequenced to analyze the gene mutation at the 918th locus of RET gene in Chinese Compared with other human germline sMTCs reported in the literature at this locus. Results No mutation was found in Chinese sMTC at this locus. The mutation rates of yellow, white and brown individuals at this locus were 7.1%, 33.5% and 50.0%, respectively The forms are ATG → ACG point mutations. There was significant difference between white and yellow, brown and yellow (P <0.05). Conclusion The incidence of sMTC in Chinese is unrelated to the mutation of the RET gene at position 918. The mutation rates of sMTC in different ethnic groups are different. The genetic basis of sMTC in different ethnic groups may be different.