利用生物信息学技术分析APC基因同义突变SNP在家族性腺瘤性息肉病发病机制的研究

发布时间：2018-05-06 14:35

本文选题：基因 + 腺瘤息肉病　；参考：《重庆医学》2017年02期

【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。
[Abstract]:Objective to analyze the pathogenesis of APC gene synonymous mutation in familial adenomatous polyposis by bioinformatics. Methods the samples of 5 FAP patients with colorectal cancer from Yunnan Province were selected for APC gene mutation comparison analysis. The selected sSNP was predicted by bioinformatics, including protein coding, splicing regulation and transcriptional regulation. Posttranslational adjustment and prediction of RNA secondary structure impact analysis. Results five sSNPs which may have an effect on APC protein were screened. Bioinformatics prediction suggested that these sSNP affected splicing enhancer at the mRNA level, thus causing abnormal splicing of APC exon. The truncation of APC protein led to the analysis of FAP.RNA secondary structure. It was found that these sSNP had a functional effect on RNA stability and interaction with other RNA or proteins. Conclusion the mutation effect caused by some sSNP of APC gene can explain the etiology of APC negative FAP by bioinformatics prediction.
【作者单位】：昆明医科大学第一附属医院肿瘤科;昆明医科大学第一附属医院肿瘤内科;昆明医科大学第三附属医院肿瘤内科;
【基金】：国家自然科学基金资助项目(81160245) 云南省教育厅科学研究基金资助项目(2015Y177)
【分类号】：R735.34

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