HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
GenDx, Utrecht 3584 CM, The Netherlands.
Hum Immunol. 2019 Jul;80(7):465-467. doi: 10.1016/j.humimm.2019.03.005. Epub 2019 Mar 5.
The immunogenetics research and clinical communities are undergoing a revolution in the way that Human Leukocyte Antigens (HLA) alleles are typed, thanks to the introduction and increasing acceptance of next-generation sequencing into laboratory practice. With the ability to sequence all exons of each allele, instead of the previously routine typing of exons 2 and 3 of class I and exon 2 of class II, the sequencing of previously unsequenced areas of HLA alleles is causing a host of new alleles to be discovered through the course of routine laboratory testing. In the first 4 months of routine next generation sequencing, we have identified 10 novel alleles that have been discovered through laboratory testing for all facets of HLA typing, i.e. solid organ transplantation, hematopoietic stem cell transplantation, disease association typing and pharmacogenomics testing. The advent of NGS HLA typing in routine clinical practice, and the concomitant routine typing of exons outside the norm, opens the window for rapid discovery of new HLA alleles and a potential for overwhelming the current HLA nomenclature naming conventions.
由于新一代测序技术在实验室实践中的引入和日益被接受，免疫遗传学研究和临床界正在经历一场人类白细胞抗原（HLA）等位基因分型方式的革命。通过对每个等位基因的所有外显子进行测序，而不是以前常规的对 I 类的外显子 2 和 3 以及 II 类的外显子 2 进行分型，以前未测序的 HLA 等位基因区域的测序导致了通过常规实验室检测发现了许多新的等位基因。在常规下一代测序的头 4 个月中，我们已经通过 HLA 分型的各个方面（即实体器官移植、造血干细胞移植、疾病关联分型和药物基因组学检测）的实验室检测发现了 10 个新的等位基因。NGS HLA 分型在常规临床实践中的出现，以及常规的非规范外显子分型，为新的 HLA 等位基因的快速发现打开了窗口，并有可能使当前的 HLA 命名规范不堪重负。
