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

作　　者：甘世锐[1] 杨康 陈万金[1] 王柠[1] Gan Shirui;Yang Kang;Chen Wanjin;Wang Ning(Department of Neurology,the First Affiliated Hospital of Fujian Medical University,Institute of Neurology,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China)

机构地区：[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

出　　处：《中华神经科杂志》2024年第5期413-418,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金(82230039)。

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。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 

分 类 号：R741[医药卫生—神经病学与精神病学]