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大规模血型基因分型:临床意义。

Large-scale blood group genotyping: clinical implications.

作者信息

Avent Neil D

机构信息

Centre for Research in Biomedicine and UWE, Bristol Genomics Research Institute, Faculty of Health and Life Sciences, University of the West of England, Bristol, UK.

出版信息

Br J Haematol. 2009 Jan;144(1):3-13. doi: 10.1111/j.1365-2141.2008.07285.x. Epub 2008 Oct 30.

DOI:10.1111/j.1365-2141.2008.07285.x
PMID:19016734
Abstract

The molecular background of blood group antigen expression of the major clinically significant blood group antigens has been largely accomplished. Despite this large body of work, blood group phenotype prediction by genotyping has a marginal supporting role in the routine blood bank. It has however had a major impact in the prenatal determination of fetal blood group status in the management of haemolytic disease of the fetus and newborn. In the past few years several high throughput systems have been in development that have the potential capacity to perform genotyping on a mass scale. Such systems have been designed for use on donor- and patient-derived DNA and provide much more comprehensive information regarding an individuals blood group than is possible by using serological methods alone. DNA-based typing methodology is easier to standardize than serology and has the potential to replace it as a front line diagnostic in blood banks. This review overviews the current situation in this area and attempts to predict how blood group genotyping will evolve in the future.

摘要

临床上具有重要意义的主要血型抗原的血型抗原表达分子背景已基本明确。尽管有大量此类研究工作,但通过基因分型预测血型表型在常规血库中仅起辅助作用。然而,它在胎儿和新生儿溶血病管理中胎儿血型状态的产前确定方面产生了重大影响。在过去几年中,有几种高通量系统正在开发中,这些系统有潜力大规模进行基因分型。此类系统设计用于对供体和患者来源的DNA进行检测,与仅使用血清学方法相比,能提供关于个体血型更全面的信息。基于DNA的分型方法比血清学更容易标准化,并且有可能取代血清学成为血库的一线诊断方法。本综述概述了该领域的现状,并试图预测血型基因分型在未来将如何发展。

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