遗传 ›› 2016, Vol. 38 ›› Issue (5): 363-390.doi: 10.16288/j.yczz.16-174
• 特邀综述 • 下一篇
李元丰1, 韩玉波2, 曹鹏博1, 孟金凤1, 李海北1, 秦庚1, 张锋3, 靳光付4, 杨勇5, 邬玲仟6, 平杰1, 周钢桥1
收稿日期:
2016-04-27
修回日期:
2016-05-13
出版日期:
2016-05-20
发布日期:
2016-05-19
通讯作者:
周钢桥,研究员,研究方向:医学遗传学与基因组学。E-mail: zhougq114@126.com
Yuanfeng Li1, Yubo Han2, Pengbo Cao1, Jinfeng Meng1, Haibei Li1, Geng Qin1, Feng Zhang3, Guangfu Jin4, Yong Yang5, Lingqian Wu6, Jie Ping1, Gangqiao Zhou1
Received:
2016-04-27
Revised:
2016-05-13
Online:
2016-05-20
Published:
2016-05-19
摘要: 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(microRNA,miRNA)、疾病相关长链非编码RNA(Long non-coding RNA,lncRNA)、疾病相关竞争性内源RNA(Competing endogenous RNA,ceRNA)、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。
李元丰, 韩玉波, 曹鹏博, 孟金凤, 李海北, 秦庚, 张锋, 靳光付, 杨勇, 邬玲仟, 平杰, 周钢桥. 2015年中国医学遗传学研究领域若干重要进展[J]. 遗传, 2016, 38(5): 363-390.
Yuanfeng Li, Yubo Han, Pengbo Cao, Jinfeng Meng, Haibei Li, Geng Qin, Feng Zhang, Guangfu Jin, Yong Yang, Lingqian Wu, Jie Ping, Gangqiao Zhou. Research advances on medical genetics in China in 2015[J]. HEREDITAS(Beijing), 2016, 38(5): 363-390.
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