Yazer Mark H
Institute for Transfusion Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Transfus Med Rev. 2005 Jul;19(3):200-9. doi: 10.1016/j.tmrv.2005.02.003.
ABO is the most important blood group system for transfusion and solid organ transplantation, but it is only over the past 15 years that the techniques for studying its molecular basis became mainstream. Many of its common and rare alleles are now well characterized and by using various expression systems, their effects on the resulting glycosyltransferases are being appreciated. As progress has been made in genetics and glycobiology, so too do reagents used to routinely type red blood cells in the clinical laboratory evolve. Monoclonal reagents are now widely used. This has created difficulties in nomenclature to describe subtype phenotypes as the names of some of these uncommon phenotypes were based on the red blood cell agglutination pattern using polyclonal reagents. In this brief review a discussion of the wild-type ABO allele and the enzymes it encodes is followed by a description of a selection of unusual and fascinating alleles-some that encode enzymes that create both A and B antigens and others that result from hybridization events. A short section on the techniques of ABO allele investigation describes some of the current methodologies used in both research and clinical laboratories.
ABO血型系统是输血和实体器官移植中最重要的血型系统，但直到过去15年，研究其分子基础的技术才成为主流。现在，它的许多常见和罕见等位基因已得到很好的表征，通过使用各种表达系统，人们正在了解它们对所产生的糖基转移酶的影响。随着遗传学和糖生物学的进展，临床实验室中用于常规鉴定红细胞血型的试剂也在不断发展。单克隆试剂现在被广泛使用。这给描述亚型表型的命名带来了困难，因为其中一些不常见表型的名称是基于使用多克隆试剂的红细胞凝集模式。在这篇简短的综述中，首先讨论了野生型ABO等位基因及其编码的酶，然后描述了一些不寻常且引人入胜的等位基因——一些编码能产生A和B抗原的酶，另一些则是杂交事件的结果。关于ABO等位基因研究技术的简短章节介绍了一些目前在研究和临床实验室中使用的方法。
