中文摘要：

目的利用生物信息学技术分析APC基因同义突变SNP（sSNP）在家族性腺瘤性息肉病（FAP）中的发病机制。方法选取云南省遗传性大肠癌组织标本库中的5个FAP患者的组织标本进行APC基因突变比对分析,将筛选得到的sSNP进行生物信息学预测,包括蛋白编码、剪接调节、转录调节、翻译后调节,并对RNA二级结构影响分析方面的预测。结果筛选得到5个可能对APC蛋白产生影响的sSNP,生物信息学预测提示这些sSNP在mRNA水平影响剪接增强子（ESE）从而引起APC外显子异常剪切,使APC蛋白截短而导致FAP。RNA二级结构分析发现这些sSNP对RNA稳定、与其他RNA或蛋白的相互作用等产生功能性影响。结论利用生物信息学预测手段,APC基因的某些sSNP引起的突变效应可以解释部分APC阴性FAP的病因。

英文摘要：

Objective To analyze the synonymous mutation SNP（sSNP）of APC gene in the pathogenesis of familial adenomatous polyposis（FAP）by applying the bioinformatics technology.Methods Five samples of FAP tissue were selected from the Yunan provincial hereditary colorectal cancer tissue samples bank and performed the contrastive analysis of APC gene mutations.The screened sSNP were conducted the bioinformatics prediction,including protein coding,splicing regulation,transcriptional regulation,post-translation regulation and influence on RNA secondary sructure.Results Five sSNPs possibly affecting APC protein were screened out.The bioinformatics prediction prompted that these sSNP affected the exon splicing enhancer（ESE）at mRNA level,thus caused the abnormal shear of APC exon,and then truncated APC protein to result in FAP.The RNA secondary structure analysis found that these sSNP generated the functional impacts on RNA stability and interaction with other RNA or protein.Conclusion Through bioinformatics prediction means,the mutation effect caused by some sSNP in APC gene could explain the etiology of partial APC（-）/FAP.