Jakobsen M A, Dellgren C, Sheppard C, Yazer M, Sprogøe U
Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
University of Southern Denmark, Odense, Denmark.
Transfus Med. 2019 Jun;29(3):162-168. doi: 10.1111/tme.12496. Epub 2017 Dec 18.
Next-generation sequencing (NGS) for the determination of rare blood group genotypes was tested in 72 individuals from different ethnicities.
Traditional serological-based antigen detection methods, as well as genotyping based on specific single nucleotide polymorphisms (SNPs) or single nucleotide variants (SNVs), are limited to detecting only a limited number of known antigens or alleles. NGS methods do not have this limitation.
NGS using Ion torrent Personal Genome Machine (PGM) was performed with a customised Ampliseq panel targeting 15 different blood group systems on 72 blood donors of various ethnicities (Caucasian, Hispanic, Asian, Middle Eastern and Black).
Blood group genotypes for 70 of 72 samples could be obtained for 15 blood group systems in one step using the NGS assay and, for common SNPs, are consistent with previously determined genotypes using commercial SNP assays. However, particularly for the Kidd, Duffy and Lutheran blood group systems, several SNVs were detected by the NGS assay that revealed additional coding information compared to other methods. Furthermore, the NGS assay allowed for the detection of genotypes related to VEL, Knops, Gerbich, Globoside, P1PK and Landsteiner-Wiener blood group systems.
The NGS assay enables a comprehensive genotype analysis of many blood group systems and is capable of detecting common and rare alleles, including alleles not currently detected by commercial assays.
对72名不同种族个体进行下一代测序（NGS）以确定罕见血型基因型。
传统的基于血清学的抗原检测方法，以及基于特定单核苷酸多态性（SNP）或单核苷酸变异（SNV）的基因分型，仅限于检测有限数量的已知抗原或等位基因。NGS方法不存在此限制。
使用Ion torrent个人基因组机器（PGM）进行NGS，对72名不同种族（白种人、西班牙裔、亚洲人、中东人和黑人）的献血者，采用定制的靶向15种不同血型系统的扩增子测序板。
使用NGS检测可一步获得72个样本中70个样本的15种血型系统的基因型，对于常见SNP，与先前使用商业SNP检测确定的基因型一致。然而，特别是对于基德、达菲和路德血型系统，NGS检测发现了一些SNV，与其他方法相比揭示了更多编码信息。此外，NGS检测能够检测与VEL、诺普斯、杰尔比奇、Globoside、P1PK和兰德施泰纳 - 维纳血型系统相关的基因型。
NGS检测能够对多种血型系统进行全面的基因型分析，并且能够检测常见和罕见等位基因，包括目前商业检测未检测到的等位基因。
