结合中医经脉理论的疾病表型本体论的建立与验证

项目名称： 结合中医经脉理论的疾病表型本体论的建立与验证

项目编号： No.81473446

项目类型： 面上项目

立项/批准年度： 2015

项目学科： 医药、卫生

项目作者： 李岭

作者单位： 四川大学

项目金额： 74万元

中文摘要： 经脉是中医独有的概念，也被认为是沟通东西方医学最有希望的桥梁。研究者既往从组织解剖学、生物物理学、生物化学等角度对体表经脉的特性进行了探讨，然而对其体内部分尚涉及不多，对经脉形成的机制亦缺乏了解。申请者在观察到经脉的路径与人类先天综合征的发病特点之间强烈的对应关系以及前期研究的基础上，拟借助在线人类孟德尔遗传数据库（Online Mendelian Inheritance in Man，OMIM）以及最新发布的人类表型本体论（Human Phenome Ontology，HGO）中的大量数据，通过数据重构和挖掘，建立与西医互通的中医解剖学表型本体论体系，同时对经脉在体内的路径进行预测，识别一批关键的发育调控基因，之后利用实时PCR、核酸原位杂交、荧光素酶报告基因等技术明确经脉在人体内部的走行路径，探讨经脉的路径与基因特异性表达之间的关系，初步形成基于中医概念的、更合理的人类表型本体论体系。

中文关键词： 本体论；经脉；表型；数据挖掘；基因表达

英文摘要： The meridian is a unique concept in Traditional Chinese Medicine (TCM), and is also considered the most promising concept which can bridge the Eastern and Western medicine. Researchers have previously studied the nature of meridians on the body surface from the perspective of anatomy, biophysics and biochemistry, but have not explored their internal parts, and the formation of the meridians is also lack of understanding. The applicant has observed a strong correlation between the paths of meridians path and many congenital syndromes. Based on this, this study proposes to use data from the Online Mendelian Inheritance in Man (OMIM) database and the latest release of Human Phenome Ontology (HGO) through data mining and reorganization in order to establish an anatomical phenotypic ontology system interoperable with Western medicine, and to use it to predict the paths of meridians within the body and identify regulatory genes critical for the development. With real-time PCR, in situ hybridization, and luciferase reporter gene technology, the paths of the meridians inside the human body and its relationship with specific gene expression will be explored. Based on this, a more reasonable human phenotype ontology system can be attained.

英文关键词： Ontology;Meridian;Phenotype;Data Mining;Gene Expression