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科技导报
| 专题:阿尔茨海默病 2021, 39(20): 80-91
阿尔茨海默病的基因组学与功能基因组学研究进展
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张登峰1 , 徐敏1 , 姚永刚1,2
作者信息
1. 中国科学院昆明动物研究所动物模型与人类疾病机理重点实验室, 昆明 650223;
2. 中国科学院脑科学与智能卓越创新中心, 上海 200031
通讯作者:
张登峰(通信作者),研究员,研究方向为医学遗传学,电子信箱:zhangdengfeng@mail.kiz.ac.cn;姚永刚(共同通信作者),研究员,研究方向为医学遗传学,电子信箱:yaoyg@mail.kiz.ac.cn
Genomics and functional genomics of Alzheimer's disease
Affiliations
出版时间: 2021-10-28
doi: 10.3981/j.issn.1000-7857.2021.20.007
文章导航
阿尔茨海默病(AD)是最常见的神经退行性疾病与最主要的痴呆类型,其发病率随着年龄增加而呈指数式增长。随着人口老龄化,AD造成的社会经济负担愈趋严重。AD的遗传力接近80%,其人群易感程度、表型差异等性状特征受机体遗传变异的极大影响。总结了基于家系连锁分析、病例对照全基因组关联分析、全基因组测序等基因组学分析手段鉴定与AD发生发展相关的遗传变异与风险基因,梳理了基于各种组学数据的功能基因组学研究手段,解析遗传变异背后的调控元件、效应基因及其分子过程的研究进展。对风险基因及其转录与蛋白水平改变的揭示,可为AD的发病机制解析、药物开发、精准诊断与早期预测提供直接的靶点。
阿尔茨海默病
/
遗传分析
/
全基因组
/
转录组
/
蛋白质组
The Alzheimer's disease (AD) is a major form of dementia and the most prevalent neurodegenerative disease in the elderly. In view of its high heritability, the genetic and genomic study plays essential roles in the basic researches and the clinical practice of the AD. This paper reviews the research advances regarding the genetic analyses of the AD, from the linkage analyses and the genome-wide association studies, to the next-generation sequencing studies, including also the functional variations, the causal genes, the multi-omic alterations, and the biological mechanisms underlying the AD genetics from the perspective of the functional genomics. It is expected that the genomic and functional genomic studies will contribute to the understanding and the management of the disease.
Alzheimer's disease
/
genetic analysis
/
genomics
/
transcriptomics
/
proteomic
张登峰, 徐敏, 姚永刚.
阿尔茨海默病的基因组学与功能基因组学研究进展.
科技导报,
2021
, 39
(20)
: 80
-91
.
DOI: 10.3981/j.issn.1000-7857.2021.20.007
ZHANG Dengfeng, XU Min, YAO Yonggang.
Genomics and functional genomics of Alzheimer's disease[J].
Science & Technology Review ,
2021
, 39
(20)
: 80
-91
.
DOI: 10.3981/j.issn.1000-7857.2021.20.007
2021年第39卷第20期
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引用本文
BibTeX
文章信息
doi: 10.3981/j.issn.1000-7857.2021.20.007
接收时间:2021-04-08
首发时间:2021-11-08
出版时间:2021-10-28
收稿日期:2021-04-08
修回日期:2021-06-13
通讯作者:
张登峰(通信作者),研究员,研究方向为医学遗传学,电子信箱:zhangdengfeng@mail.kiz.ac.cn;姚永刚(共同通信作者),研究员,研究方向为医学遗传学,电子信箱:yaoyg@mail.kiz.ac.cn
https://castjournals.cast.org.cn/joweb/kjdb/CN/10.3981/j.issn.1000-7857.2021.20.007
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2种不同金属材料的力学参数
科 Family 属数 Number of genus 种数 Number of species 占总种数比例 Percentage of total species (%) 属 Genus 种数 Number of species 占总种数比例 Percentage of total species (%) 鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78 小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39 多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39 红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87 小菇属 Mycena 11 5.26 光柄菇属 Pluteus 5 2.39 红菇属 Russula 17 8.13 栓菌属 Trametes 5 2.39
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