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目的:利用生物信息学方法分析乳腺癌易感基因1(BRCA1)序列结构特征,并预测BRCA1功能编码区突变与致病性遗传效应的关系。方法:采用Maximum Likelihood、ClustalW、SMART和Selecton等在线生物信息学分析工具,对BRCA1进行分子系统发育、保守性、选择压力、结构域、三维结构和错义结构的分析。结果:分析获得195个固定残基位点(10.5%)和393个保守位点(21.1%),其分布是非随机性的;发现人BRCA1序列中的保守结构域BRCT的三维结构与其他物种存在着较大的差异,表明BRCT结构域在不同物种中具有不同的生物学功能;关联性分析证实发生在保守位点的突变致病性高。结论:基于生物信息学的BRCA1序列结构分析,能充分利用相关数据的资源,加深对BRCA1基因变异与肿瘤发生的相关性的认识。
OBJECTIVE: To analyze the structural characteristics of breast cancer susceptibility gene 1 (BRCA1) sequence by bioinformatics methods and predict the relationship between BRCA1 functional coding mutation and pathogenicity genetic effect. METHODS: The BRCA1 molecular phylogeny, conservation, selection pressure, domain, 3D structure and missense structure were analyzed by online bioinformatics tools such as Maximum Likelihood, ClustalW, SMART and Selecton. RESULTS: A total of 195 fixed residues (10.5%) and 393 conserved sites (21.1%) were obtained and were non-random in distribution. The three-dimensional structure of the conserved BRCA region in human BRCA1 was found to be associated with the presence of other species The larger difference indicates that the BRCT domain has different biological functions in different species. The correlation analysis confirmed that the mutation occurred in the conservative site is highly pathogenic. Conclusion: Based on bioinformatics analysis of BRCA1 sequence structure, we can make full use of the resources of related data and deepen our understanding of the relationship between BRCA1 gene mutation and tumorigenesis.