Sanquin Research, Amsterdam and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Vox Sang. 2009 Oct;97(3):198-206. doi: 10.1111/j.1423-0410.2009.01209.x. Epub 2009 Jun 22.
Blood group antigens, present on the cell membrane of red blood cells and platelets, can be defined either serologically or predicted based on the genotypes of genes encoding for blood group antigens. At present, the molecular basis of many antigens of the 30 blood group systems and 17 human platelet antigens is known. In many laboratories, blood group genotyping assays are routinely used for diagnostics in cases where patient red cells cannot be used for serological typing due to the presence of auto-antibodies or after recent transfusions. In addition, DNA genotyping is used to support (un)-expected serological findings. Fetal genotyping is routinely performed when there is a risk of alloimmune-mediated red cell or platelet destruction. In case of patient blood group antigen typing, it is important that a genotyping result is quickly available to support the selection of donor blood, and high-throughput of the genotyping method is not a prerequisite. In addition, genotyping of blood donors will be extremely useful to obtain donor blood with rare phenotypes, for example lacking a high-frequency antigen, and to obtain a fully typed donor database to be used for a better matching between recipient and donor to prevent adverse transfusion reactions. Serological typing of large cohorts of donors is a labour-intensive and expensive exercise and hampered by the lack of sufficient amounts of approved typing reagents for all blood group systems of interest. Currently, high-throughput genotyping based on DNA micro-arrays is a very feasible method to obtain a large pool of well-typed blood donors. Several systems for high-throughput blood group genotyping are developed and will be discussed in this review.
血型抗原存在于红细胞和血小板的细胞膜上，可以通过血清学方法或基于编码血型抗原的基因的基因型进行预测。目前，许多 30 个血型系统和 17 个人类血小板抗原的抗原的分子基础已经知晓。在许多实验室中，由于存在自身抗体或近期输血，无法使用患者红细胞进行血清学分型时，常规进行血型基因分型检测以用于诊断。此外，DNA 基因分型用于支持（未）预期的血清学发现。当存在同种免疫介导的红细胞或血小板破坏风险时，常规进行胎儿基因分型。在患者血型抗原分型的情况下，快速获得基因分型结果以支持供者血液的选择非常重要，而基因分型方法的高通量并不是前提条件。此外，对献血者进行基因分型将非常有助于获得缺乏高频抗原等稀有表型的献血者血液，并获得完全定型的献血者数据库，以更好地匹配受者和供者，防止不良反应输血反应。对大量献血者进行血清学分型是一项劳动密集型且昂贵的工作，并且受到缺乏足够数量的所有感兴趣的血型系统的批准分型试剂的限制。目前，基于 DNA 微阵列的高通量基因分型是获得大量定型良好的献血者的非常可行的方法。已经开发了几种高通量血型基因分型系统，并将在本文中进行讨论。
