高通量测序技术在结核病诊断和耐药检测中的应用进展

doi:10.19871/j.cnki.xfcrbzz.2024.05.015

摘要/Abstract

摘要： 结核病是一种传染性强、病死率高的慢性疾病,及时诊断和耐药性检测对结核病的防治至关重要。尽管常规的病原学检测方法在结核病的诊断中起到了重要作用,但也存在一定的局限性,难以满足临床快速、精确诊断的需求。高通量测序技术在感染性疾病病原体检测方面的应用日益广泛,随着技术的发展,在结核病的诊断和耐药性检测方面也有新的突破。高通量测序技术能够在短时间内分析大量样本,快速识别结核分枝杆菌的基因序列,同时检测耐药基因突变,在结核病的诊断和耐药性快速检测方面显现出巨大的潜力和价值。本文重点探讨了二代测序（next-generation sequencing,NGS）和三代纳米孔等高通量测序技术在结核病早期诊断和耐药基因突变监测方面的应用,讨论宏基因组测序、靶向测序和全基因组测序等测序技术的临床应用策略。

关键词: 结核病, 高通量测序技术, 二代测序, 三代纳米孔测序

Abstract: Tuberculosis is a highly contagious and fatal chronic disease. Timely diagnosis and drug resistance testing are crucial for its prevention and control. Although conventional pathogen detection methods play an important role in the diagnosis of tuberculosis, they have certain limitations and are often unable to meet the clinical demands for rapid and accurate diagnosis. High-throughput sequencing technology is increasingly being applied in pathogen detection for infectious diseases, and with technological advancements, it has brought new breakthroughs in the diagnosis and drug resistance testing of tuberculosis. High-throughput sequencing technology can analyze a large number of samples in a short time, quickly identify the gene sequence of Mycobacterium tuberculosis, and detect drug resistance gene mutations, showing great potential and value in the rapid diagnosis and drug resistance testing of tuberculosis. This paper focuses on the application of high-throughput sequencing technologies such as next-generation sequencing (NGS) and third-generation nanopore sequencing in the early diagnosis and monitoring of drug resistance gene mutations in tuberculosis. It discusses the clinical application strategies of sequencing technologies including metagenomic sequencing, targeted sequencing, and whole genome sequencing.

Key words: Tuberculosis, Genetic sequencing technology, Next-generation sequencing, Third-generation nanopore sequencing

中图分类号:

朱庆东, 王琦, 宋畅, 赵春艳, 阳世雄. 高通量测序技术在结核病诊断和耐药检测中的应用进展[J]. 新发传染病电子杂志, 2024, 9(5): 78-82.

Zhu Qingdong, Wang Qi, Song Chang, Zhao Chunyan, Yang Shixiong. Progress in the application of high-throughput sequencing technology in tuberculosis diagnosis and drug resistance detection[J]. Electronic Journal of Emerging Infectious Diseases, 2024, 9(5): 78-82.

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