基因测序技术在单基因狼疮精准诊断和机制研究中的应用现状

doi:10.12372/jcp.2023.22e1331

摘要/Abstract

摘要：

单基因狼疮是一类表现为狼疮样症状的自身免疫性疾病总称，通常在儿童时期即被确诊。尽管单基因变异导致系统性红斑狼疮较罕见，但了解其原理有助于临床医师深刻理解系统性红斑狼疮。近年来，随着基因测序普遍应用，许多新变异被发现。本文从已知变异位点及致病途径进一步理解单基因狼疮，以期为狼疮患者寻找更精准的诊断标志物和制定更具个性化的治疗方案提供新的发展方向，也为该类疾病新药的研发提供可能的靶点。

关键词: 单基因狼疮, 全基因组测序技术, 系统性红斑狼疮, 变异

Abstract:

Monogenic lupus is a general term for a class of autoimmune diseases with lupus like symptoms, which is usually diagnosed in childhood. Although it is rare for a single gene variant to cause systemic lupus erythematosus (SLE), understanding its principle is helpful for clinicians to gain a deep understanding of SLE. In recent years, with the widespread application of gene sequencing, many new variations have been discovered. This review is to further understand monogenic lupus from known variations and pathogenic pathways, in order to provide a new development direction for patients with lupus to find more accurate diagnostic markers and formulate more personalized treatments, and also to provide possible targets for the research and development of new drugs for such disease.

Key words: monogenic lupus, whole genome sequencing, systemic lupus erythematosus, variation

杨智博, 刘力. 基因测序技术在单基因狼疮精准诊断和机制研究中的应用现状[J]. 临床儿科杂志, 2023, 41(9): 715-720.

YANG Zhibo, LIU Li. Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus[J]. Journal of Clinical Pediatrics, 2023, 41(9): 715-720.

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