摘要
生物信息学是随着生命科学和信息学发展而产生的交叉学科,其主要研究的是基因和蛋白质的表达及其潜在关系。近年来眼科领域的学者们与时俱进,借助基因组学、转录组学、蛋白质组学、代谢组学等平台,将生物信息学的研究方法引入眼底疾病研究中,包括遗传易感基因的筛查、诊断标志物的甄别以及发病机制的探索在内的诸多方面,取得了一系列喜人的研究成果。基因组学具有高效准确的特点,在视网膜母细胞瘤和视网膜色素变性研究中用于检测新的突变位点,有助于进一步完善视网膜遗传性疾病的发病机制。转录组学、蛋白质组学和代谢组学具有高通量的特点,用于分析眼内液或离体细胞在疾病状态下RNA、蛋白质和代谢物表达谱的变化,可用于筛选生物标志物和进一步阐明发病机制。随着技术的进步,生物信息学方法将为眼底疾病的研究提供全新的思路。
With the development of life sciences and informatics,bioinformatics is developing as an interdisciplinary subject.Its main application is the relationship between genes and proteins and their expression.With the help of genomics,proteomics,transcriptomics,and metabolomics,researchers introduce bioinformatics research methods into fundus disease research.A series of gratifying research results have been achieved including the screening of genetic susceptibility genes,the screening of diagnostic markers,and the exploration of pathogenesis.Genomics has the characteristics of high efficiency and accuracy.It has been used to detect new mutation sites in retinoblastoma and retinal pigment degeneration research,which helps to further improve the pathogenesis of retinal genetic diseases.Transcriptomics,proteomics,and metabolomics have high throughput characteristics.They are used to analyze changes in the expression profiles of RNA,proteins,and metabolites in intraocular fluid or isolated cells in disease states,which help to screen biomarkers and further elucidate the pathogenesis.With the advancement of technology,bioinformatics will provide new ideas for the study of ocular fundus diseases.
作者
张慧
东莉洁
王琼
洪亚茹
李筱荣
Zhang Hui;Dong Lijie;Wang Qiong;Hong Yaru;Li Xiaorong(Tianjin Key Laboratory of Retinal Functions and Diseases,Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science,Eye Institute and School of Optometry,Tianjin Medical University Eye Hospital,Tianjin 300384,China)
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2020年第7期570-575,共6页
Chinese Journal of Ocular Fundus Diseases
基金
国家自然科学基金面上项目(81870675)
天津市卫计委青年医学新锐人才项目
天津市研究生科研创新项目资助(2019YJSS178)
天津市视网膜功能与疾病重点实验室自主与开放课题(2019tjswmm001)。
关键词
基因组学
转录组
蛋白质组学
代谢组学
视网膜疾病
综述
Genomics
Transcriptome
Proteomics
Metabolomics
Retinal diseases
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