Blood Transfusion Service Zurich, SRC, Department of Molecular Diagnostics &Cytometry (MOC), 8952-Schlieren, Switzerland.
Transfus Med Rev. 2013 Jan;27(1):2-9. doi: 10.1016/j.tmrv.2012.10.001.
Although matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry (MALDI-TOF MS) has previously been reported for high throughput blood group genotyping, those reports are limited to only a few blood group systems. This review describes the development of a large cooperative Swiss-German project, aiming to employ MALDI-TOF MS for the molecular detection of the blood groups Rh, Kell, Kidd, Duffy, MNSs, a comprehensive collection of low incidence antigens, as well as the platelet and granulocyte antigens HPA and HNA, representing a total of 101 blood group antigens, encoded by 170 alleles, respectively. Recent reports describe MALDI-TOF MS as a technology with short time-to-resolution, ability for high throughput, and cost-efficiency when used in genetic analysis, including forensics, pharmacogenetics, oncology and hematology. Furthermore, Kell and RhD genotyping have been performed on fetal DNA from maternal plasma with excellent results. In summary, this article introduces a new technological approach for high throughput blood group genotyping by means of MALDI-TOF MS. Although all data presented are preliminary, the observed success rates, data quality and concordance with known blood group types are highly impressive, underlining the accuracy and reliability of this cost-efficient high throughput method.
尽管基质辅助激光解吸/电离飞行时间质谱(MALDI-TOF MS)以前已被报道用于高通量血型基因分型,但这些报道仅限于少数几个血型系统。本文描述了一个大型瑞士-德国合作项目的发展,旨在利用 MALDI-TOF MS 对 Rh、Kell、Kidd、Duffy、MNSs 血型进行分子检测,这是一个低发生率抗原的综合收集,以及血小板和粒细胞抗原 HPA 和 HNA,分别代表总共 101 个血型抗原,由 170 个等位基因编码。最近的报告描述了 MALDI-TOF MS 作为一种技术,具有短的分辨率时间、高通量的能力和成本效益,用于遗传分析,包括法医学、药物遗传学、肿瘤学和血液学。此外,MALDI-TOF MS 已成功地对来自母体血浆的胎儿 DNA 进行 Kell 和 RhD 基因分型。总之,本文介绍了一种通过 MALDI-TOF MS 进行高通量血型基因分型的新技术方法。尽管目前所有呈现的数据都是初步的,但观察到的成功率、数据质量和与已知血型类型的一致性令人印象深刻,突出了这种具有成本效益的高通量方法的准确性和可靠性。