Pedersen Frederikke Byron, Hauge Anne Werner, Hansen Jacob Flemming, Andersen Laura Studnitz, Blomsterberg Signe, Bruunsgaard Helle
Department of Clinical Immunology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
University College Copenhagen, Copenhagen, Denmark.
HLA. 2025 Apr;105(4):e70164. doi: 10.1111/tan.70164.
HLA typing of large donor registries and biobanks as well as acute single patient/donor samples remains expensive, slow and logistically challenging, despite recent developments in the field. We have tested and validated a cost-effective, accurate and highly scalable method for typing specific genes in the HLA region. This enables HLA typing from 1 to 96 individuals simultaneously, using a targeted PCR and Native Barcoding kit from Oxford Nanopore Technologies. A primer set for seven HLA genes (HLA-A, -B, -C, -DRB1, -DQA1, -DQB1 and -DPB1) was developed to work in a multiplex PCR reaction. The resulting amplicons provide a possible four-field resolution of the HLA Class I genes and G-group resolution of the HLA Class II genes. The entire process, from DNA to HLA typing result, takes a total of 5.5-10.5 h depending on the number of samples processed simultaneously. Data analysis was conducted using NGSEngine-Turbo from GenDx (Utrecht, The Netherlands), with analysis time ranging from 1 to 5 min per sample. Samples from 96 Danish registered stem cell donors were typed using this method. One allele out of 1128 analysed alleles was inaccurately called homozygous, leading to an accuracy of 99.91%. The rapid turnaround, low cost and high accuracy make this new method highly relevant for HLA typing of large biobanks and donor registries, as well as for acute single samples. HLA typing can be obtained within 1 day, with a cost per sample of approximately €7 when 96 samples are sequenced simultaneously.
尽管该领域最近有所发展,但对大型供体登记处和生物样本库以及急性单患者/供体样本进行HLA分型仍然成本高昂、速度缓慢且在后勤方面具有挑战性。我们已经测试并验证了一种经济高效、准确且高度可扩展的方法,用于对HLA区域中的特定基因进行分型。这使得能够使用牛津纳米孔技术公司的靶向PCR和原生条形码试剂盒同时对1至96个人进行HLA分型。开发了一套针对七个HLA基因(HLA-A、-B、-C、-DRB1、-DQA1、-DQB1和-DPB1)的引物组,以用于多重PCR反应。所得扩增子可提供HLA I类基因可能的四位分辨率和HLA II类基因的G组分辨率。从DNA到HLA分型结果的整个过程总共需要5.5 - 10.5小时,具体取决于同时处理的样本数量。使用荷兰乌得勒支GenDx公司的NGSEngine-Turbo进行数据分析,每个样本的分析时间为1至5分钟。使用这种方法对96名丹麦注册干细胞供体的样本进行了分型。在1128个分析的等位基因中,有一个等位基因被错误地判定为纯合子,导致准确率为99.91%。这种新方法快速周转、成本低且准确性高,对于大型生物样本库和供体登记处的HLA分型以及急性单样本分型具有高度相关性。当同时对96个样本进行测序时,可在1天内获得HLA分型结果,每个样本的成本约为7欧元。