中华神经科杂志2024,Vol.57Issue(5) :413-418.DOI:10.3760/cma.j.cn113694-20240115-00032

从暗物质到沃土:基因组非编码区在神经系统遗传病诊断与治疗中的应用及前景

From dark matter to fertile ground:the application and prospects of non-coding genomic regions in the diagnosis and treatment of neurogenetic disorders

甘世锐 杨康 陈万金 王柠
中华神经科杂志2024,Vol.57Issue(5) :413-418.DOI:10.3760/cma.j.cn113694-20240115-00032

从暗物质到沃土:基因组非编码区在神经系统遗传病诊断与治疗中的应用及前景

From dark matter to fertile ground:the application and prospects of non-coding genomic regions in the diagnosis and treatment of neurogenetic disorders

甘世锐 1杨康 1陈万金 1王柠1
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作者信息

  • 1. 福建医科大学附属第一医院神经内科福建医科大学附属第一医院神经病学研究所,福州 350005
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摘要

近年来,遗传学领域对非编码区的关注逐渐升温,这一被视为基因组"暗物质"的领域正逐渐被揭开其神秘的面纱,并日渐成为基因诊断及治疗的"沃土".文中聚焦非编码区相关的各种诊断分析及干预技术,及其在神经系统单基因病和多基因病中的发病机制、诊断及治疗中的应用,旨在为神经系统遗传病的研究提供更全面的视角.

Abstract

In recent years,the field of genetics has witnessed a burgeoning interest in the non-coding region,an area previously dubbed the"dark matter"of the genome.This once enigmatic domain is now progressively revealing its secrets,emerging as a rich terrain for genetic diagnosis and treatment.This editorial centers on diverse diagnostic analyses and intervention techniques associated with the non-coding region,delving into its significance in the etiology,diagnosis,and treatment of both monogenic and polygenic disorders within the nervous system.In doing so,it offers a comprehensive perspective for the exploration of genetic disorders in the nervous system.

关键词

非编码区/神经系统遗传病/基因诊断/干预治疗

Key words

Non-coding region/Neurological genetic disorders/Genetic diagnosis/Intervention treatment

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基金项目

国家自然科学基金(82230039)

出版年

2024
中华神经科杂志
中华医学会

中华神经科杂志

CSTPCD北大核心
影响因子:1.329
ISSN:1006-7876
参考文献量48
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