中文摘要：

目的研究Hedgehog（Hh）信号通路中的重要作用分子Smoothened（SMO）第10外显子基因序列变异在人类肝、肺、胃、卵巢肿瘤及5种肿瘤细胞系中存在的状况。方法提取人类肝、肺、胃、卵巢肿瘤组织及5种肿瘤细胞系的基因组DNA,对基因组DNA中SMO第10外显子进行PCR体外扩增,然后进行DNA测序,对测序结果进行序列比对分析。结果测序结果显示,在2例胃肿瘤组织中存在SMO第10外显子序列的变异,分别为1958C→T,1971A→G,胃肿瘤细胞系AGS中也存在SMO第10外显子序列的变异2002T→C（rs2016607）。结论在胃肿瘤中存在SMO基因序列的变异,而其基因的改变与SMO构象和活性存在一定关系,从而为进一步研究人类胃肿瘤的发生与SMO基因序列变化之间的相关性提供依据。

英文摘要：

Objective To explore the gene sequence change of the important function molecule in the Hedgehog（Hh） signaling pathway Smoothened（SMO） exon 10 in human liver,lung,gastric and ovarian cancers and five human cancer cell lines.Methods After genomic DNA extraction,PCR and sequencing on SMO exon 10 in human liver,lung,gastric and ovarian cancer tissues and five human cancer cell lines,sequence changes were analyzed.Results There were substitutions of 1958C→T and 1971A→G in gastric cancer.One synonymous mutation 2002T→C（rs2016607） was found in the human gastric cancer cell line AGS.Conclusion There are some gene sequence changes in gastric cancers, which are related to conformation and activity of SMO.The results may provide a new clue for study of the relationship between SMO gene change and human gastric cancer.