阿尔茨海默病的遗传学
Genetics of Alzheimer's Disease.
作者信息
Kim Jong Hun
机构信息
Department of Neurology, National Health Insurance Service Ilsan Hospital, Goyang, Korea.
出版信息
Dement Neurocogn Disord. 2018 Dec;17(4):131-136. doi: 10.12779/dnd.2018.17.4.131. Epub 2019 Jan 24.
Abstract
Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are , , , , and . Genome-wide association studies have found risk genes such as , , , , , , , , , , , , , , , , , , , , and . , , , and are proved to have high odds ratio (>2) in risk of AD using next generation sequencing studies. Thanks to the promising genetic techniques such as CRISPR-CAS9 and single-cell RNA sequencing opened a new era in genetics. CRISPR-CAS9 can directly link genetic knowledge to future treatment. Single-cell RNA sequencing are providing useful information on cell biology and pathogenesis of diverse diseases.
摘要
先进的基因技术已阐明了与阿尔茨海默病（AD）相关的基因。通过连锁分析发现的家族性常染色体显性AD基因有 、 、 、 、 和 。全基因组关联研究发现了诸如 、 、 、 、 、 、 、 、 、 、 、 、 、 、 、 、 、 和 等风险基因。利用新一代测序研究证明， 、 、 和 在AD风险中具有高优势比（>2）。得益于CRISPR-CAS9和单细胞RNA测序等有前景的基因技术，遗传学开启了一个新时代。CRISPR-CAS9能直接将遗传知识与未来治疗联系起来。单细胞RNA测序正在提供有关多种疾病的细胞生物学和发病机制的有用信息。
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