高通量测序用于结核病诊断的研究进展

Research progress of high-throughput sequencing in the diagnosis of tuberculosis

结核病是一类常见的感染性疾病,它具有传染性、隐匿性和慢性化的特点,早期诊断有利于阻断结核病传播,并减少耐药结核发生率。目前应用于临床的结核病检测方法在早期诊断方面有明显的局限性。高通量测序又称为二代测序或下一代测序(NGS),作为新兴的基因测序方法,有望提高结核病早期诊断率。NGS不仅能快速检出结核分枝杆菌复合群,也能进行耐药结核菌的分子分型,这有助于制订有效的抗结核治疗方案。由于缺少大规模临床研究和统一标准,高通量测序作为结核病的检测方法还需要进一步评估和规范。

Tuberculosis is a kind of common infectious disease,which has the characteristics of infectivity,concealment and chronicity.Early diagnosis is very important to block the transmission of tuberculosis and reduce drug-resistant tuberculosis.However,the current detection methods are not ideal for the early diagnosis of tuberculosis.High-throughput sequencing,also known as second-generation sequencing or next-generation sequencing(NGS),as a new method of gene sequencing,is expected to improve the rate of early diagnosis of tuberculosis.It can not only quickly detect Mycobacterium tuberculosis complex,but also carry out molecular typing of drug-resistant Mycobacterium tuberculosis,which is helpful to develop an effective anti-tuberculosis treatment plan.Due to the lack of large-scale clinical studies and unified standards,high-throughput sequencing as a detection method for tuberculosis needs to be further evaluated and standardized.