基因突变相关的脑小血管病研究进展

doi:10.3969/j.issn.1673-5765.2020.04.009

摘要/Abstract

摘要：

随着人类基因组学的发展，遗传相关脑小血管病的基因研究近年备受关注。基因研究在发掘出更多基因突变形式和表型的同时，也为明确致病途径、寻找新治疗靶点开创了新的方向。本文对常见的遗传性脑小血管病相关基因及其突变形式、发病机制和临床表型进行了综述。

文章导读： 目前大量的基因研究助力于脑小血管病致病途径的探索，但距离人类利用基因组学达到精准治疗还有漫长道路。

关键词: 脑小血管病; 遗传; 基因

Abstract:

With the development of human genomics, genetic studies on hereditary cerebral small vessel disease(CSVD) are more active in recent years. Genetic research can not only discover more genotype and phenotype, but also open up a new direction for identifying pathogenic pathways and finding new therapeutic targets. So this article reviewed the relevant genes, genetic mutation, pathogenesis and clinical phenotype of several common hereditary CSVD.

Key words: Cerebral small vessel disease; Genetic; Gene

白秋菊，迟丽屹，亢恺雯，王少朋，孔韦杰，刘欣. 基因突变相关的脑小血管病研究进展[J]. 中国卒中杂志, 2020, 15(04): 376-381.

BAI Qiu-Ju, CHI Li-Yi,KANG Kai-Wen, WANG Shao-Peng, KONG Wei-Jie, LIU Xin. Progress of Research on Genetic Mutation-related Cerebral Small Vessel Diseases[J]. Chinese Journal of Stroke, 2020, 15(04): 376-381.

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