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

Abstract

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

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.

References 30

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Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus

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