Greninger Alexander L, Bateman Allen C, Atienza Ederlyn E, Wendt Sharon, Makhsous Negar, Jerome Keith R, Cook Linda
Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA
Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
J Clin Microbiol. 2017 Mar;55(3):824-831. doi: 10.1128/JCM.02337-16. Epub 2016 Dec 14.
Quantitative PCR is a diagnostic mainstay of clinical virology, and accurate quantitation of viral load among labs requires the use of international standards. However, the use of multiple passages of viral isolates to obtain sufficient material for international standards may result in genomic changes that complicate their use as quantitative standards. We performed next-generation sequencing to obtain single-nucleotide resolution and relative copy number of JC virus (JCV) clinical standards. Strikingly, the WHO international standard and the Exact v1/v2 prototype standards for JCV showed 8-fold and 4-fold variation in genomic coverage between different loci in the viral genome, respectively, due to large deletions in the large T antigen region. Intriguingly, several of the JCV standards sequenced in this study with large T antigen deletions were cultured in cell lines immortalized using simian virus 40 (SV40) T antigen, suggesting the possibility of transcomplementation in cell culture. Using a cutoff 5% allele fraction for junctional reads, 7 different rearrangements were present in the JC virus sequences present in the WHO standard across multiple library preparations and sequencing runs. Neither the copy number differences nor the rearrangements were observed in a clinical sample with a high copy number of JCV or a plasmid control. These results were also confirmed by the quantitative real-time PCR (qPCR), droplet digital PCR (ddPCR), and Sanger sequencing of multiple rearrangements. In summary, targeting different regions of the same international standard can result in up to an 8-fold difference in quantitation. We recommend the use of next-generation sequencing to validate standards in clinical virology.
定量聚合酶链反应(Quantitative PCR)是临床病毒学诊断的主要手段,各实验室之间准确的病毒载量定量需要使用国际标准。然而,使用病毒分离株的多代传代来获取足够的国际标准物质可能会导致基因组变化,从而使其作为定量标准的使用变得复杂。我们进行了下一代测序,以获得JC病毒(JCV)临床标准的单核苷酸分辨率和相对拷贝数。令人惊讶的是,由于大T抗原区域的大片段缺失,世界卫生组织(WHO)国际标准和JCV的Exact v1/v2原型标准在病毒基因组不同位点的基因组覆盖率分别显示出8倍和4倍的差异。有趣的是,本研究中测序的几个带有大T抗原缺失的JCV标准是在使用猿猴病毒40(SV40)T抗原永生化的细胞系中培养的,这表明在细胞培养中可能存在反式互补。使用连接读数的5%等位基因分数作为截止值,在WHO标准中存在于多个文库制备和测序运行中的JC病毒序列中发现了7种不同的重排。在高拷贝数的JCV临床样本或质粒对照中均未观察到拷贝数差异或重排。这些结果也通过定量实时聚合酶链反应(qPCR)、液滴数字聚合酶链反应(ddPCR)以及对多种重排的桑格测序得到了证实。总之,针对同一国际标准的不同区域进行定量可能会导致高达8倍的差异。我们建议使用下一代测序来验证临床病毒学中的标准。