Montgomery Maureen C, Petraroia Rosanne, Weimer Eric T
UNC Hospitals, HLA Laboratory, Chapel Hill, NC 27514, United States.
UNC Hospitals, HLA Laboratory, Chapel Hill, NC 27514, United States; UNC-Chapel Hill School of Medicine, Department of Pathology & Laboratory Medicine, Chapel Hill, NC 27514, United States.
Hum Immunol. 2017 Oct;78(10):634-641. doi: 10.1016/j.humimm.2017.08.003. Epub 2017 Aug 13.
Many clinical human leukocyte antigen (HLA) laboratories are adopting next-generation sequencing (NGS) technology for HLA genotyping. There have been several reports of the cost-benefit and reduction in turn-around-time provided by NGS. Ninety-six percent of buccal swabs and peripheral blood samples had reportable HLA genotyping by NGS. The HLA loci most likely to fail genotyping from buccal swabs were DQB1, DPB1, and DPA1. Successful buccal swab samples had significantly less genomic DNA fragmentation compared to buccal swab samples that were unsuccessful. Increasing sequencing depth of coverage for heavily fragmented samples rescued HLA genotyping. This information provides laboratories with a quality assurance parameter that reduces the amount of repeat NGS needed to achieve high-resolution HLA genotyping. This information should further reduce laboratory and patient costs for HLA genotyping.
许多临床人类白细胞抗原（HLA）实验室正在采用下一代测序（NGS）技术进行HLA基因分型。已有多篇关于NGS带来的成本效益和周转时间缩短的报道。96%的口腔拭子和外周血样本通过NGS可获得可报告的HLA基因分型。口腔拭子最有可能基因分型失败的HLA位点是DQB1、DPB1和DPA1。与未成功的口腔拭子样本相比，成功的口腔拭子样本的基因组DNA片段化明显更少。增加严重片段化样本的测序覆盖深度可挽救HLA基因分型。这些信息为实验室提供了一个质量保证参数，可减少实现高分辨率HLA基因分型所需的重复NGS数量。这些信息应进一步降低HLA基因分型的实验室成本和患者成本。
