摘要
随着生物信息学技术的不断发展,精准医学理念的不断深化,包括唇腭裂在内的遗传性疾病的遗传机制逐渐得到越来越多的关注。先前大量研究着眼于蛋白编码区,发现了很多潜在的唇腭裂致病突变,但仍然存在许多尚未解决的问题,近年来研究人员逐渐开始关注基因组中的非蛋白编码区。本文综述了唇腭裂研究中发现的蛋白编码区致病突变和一些起到重要作用的非蛋白编码区变异及其可能的致病机制。
With the continuous development of bioinformatics technology and precision medicine, genetic mechanism investigations of genetic diseases including cleft lip and palate (CLP) have been getting more and more attention. Researchers have focused on the coding sequence of the genome and successfully found many CLP causative mutations, but there still remain some unsolved questions. In recent years, researchers′ vision has gradually shifted to non-protein coding region of the genome. This article reviews several coding sequence mutations, non-protein coding variants and their genetic mechanisms discovered in CLP researches.
作者
张云帆
林久祥
陈峰
Zhang Yunfan;Lin Jiuxiang;Chen Feng(Department of Orthodontics, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China)
出处
《中华口腔医学杂志》
CAS
CSCD
北大核心
2019年第3期205-208,共4页
Chinese Journal of Stomatology
关键词
唇裂
腭裂
非蛋白编码区
遗传机制
全外显子组测序
Cleft lip
Cleft palate
Non-protein coding region
Genetic mechanism
Whole exome sequencing
