遗传学原理下的疾病基础研究新模式

A new paradigm of disease studies under the principles of genetics

遗传学是研究生命体性状传递规律和机制的科学,其核心目标是确定性状和遗传信息的载体——基因之间的关系。迄今为止,人们在性状基因关系的探索方面取得了巨大的成就,在这一过程中也积累了系统的研究方法。其基本的研究逻辑可以概括为两个思路,即正向遗传学思路——从性状的深入分析到发现控制该性状的基因,反向遗传学思路——从突变功能未知的基因观察基因突变产生的性状。然而,若将人类疾病也看作是人类性状,那么遗传学方法在疾病研究中的贡献还没有达到人们的期望。近年来,随着人类基因组计划的完成而建立起来的组学技术方法和数据库,给研究人类疾病性状带来了新的机遇,从而引发了疾病基础研究模式的转变。

Genetics is a science that studies the laws and mechanisms of the transmission of traits in organisms.Its core goal is to determine the relationship between a trait and its encoding gene,the carrier of genetic information.So far,great achievements have been made in the exploration of trait-gene relationship,and systemic research methods have been accumulated in the process.Its basic research logic can be summarized into two ideas,namely,forward genetics that reveals the gene encoding a trait by in-depth analysis of the trait,and reverse genetics that defines the trait encoded by a gene through making mutation.However,if human diseases are also regarded as human traits,then the contribution of genetic methods to disease research has not met people's expectations.In recent years,with the completion of the Human Genome Project and the establishment of omics methods and databases,new opportunities have emerged for the study of human disease traits,leading to a transition in the paradigm of disease studies.