2015年中国医学遗传学研究领域若干重要进展

Research advances on medical genetics in China in 2015

2015年中国医学遗传学稳步发展,众多具有原创性的研究论文在国际顶级杂志上发表。中国科学家在医学遗传学的诸多领域,如罕见疾病的致病基因、复杂疾病的易感基因、癌症的体细胞突变、遗传学新方法新技术、疾病相关微小RNA(micro RNA,mi RNA)、疾病相关长链非编码RNA(Long non-coding RNA,lnc RNA)、疾病相关竞争性内源RNA(Competing endogenous RNA,ce RNA)、疾病相关可变剪接和分子进化等研究领域均取得了突破性的进展。中国科学家在医学遗传学研究中逐步从常见变异延伸到罕见变异,从遗传学现象的描述到功能机制的确证,从单组学分析扩展至多组学数据整合,从基础研究走向临床应用。同时,中国科学家的研究成果引起了国际同行的高度关注。本文概括性综述了2015年中国科学家在医学遗传学领域取得的若干重要研究进展,旨在追踪当前中国医学遗传学领域发展的前沿,与国内读者分享我国科学家在该领域取得的重要成果以及研究思路。

Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world’s leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer,＆nbsp;new technologies and methods, disease-related microRNAs （miRNAs）, disease-related long non-coding RNAs （lncRNAs）, disease-related competing endogenous RNAs （ceRNAs）, disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important find-ings and their research strategy.