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多姆布罗克血型系统的复杂性被揭示。

Complexities of the Dombrock blood group system revealed.

作者信息

Reid Marion E

机构信息

New York Blood Center, New York, New York 10021, USA.

出版信息

Transfusion. 2005 Aug;45(2 Suppl):92S-9S. doi: 10.1111/j.1537-2995.2005.00527.x.

DOI:10.1111/j.1537-2995.2005.00527.x
PMID:16086795
Abstract

The Do(a) antigen was discovered after I began my career in immunohematology and I have been fortunate to be involved in several fascinating discoveries in the Dombrock blood group system. The Do(a) antigen and its antithetical antigen, Do(b), have a prevalence that makes them useful as genetic markers. The paucity of reliable anti-Do(a) and anti-Do(b) has prevented this potential from being realized; however, our ability to type for DO alleles at the DNA level has made it possible to test cohorts from different populations. In 1992, the Dombrock blood group system was expanded to include three phenotypically related antigens, Gy(a), Hy, and Jo(a), when it was discovered that the Gy(a-) phenotype was the null of the Dombrock system. Based on the knowledge that the Dombrock glycoprotein is attached to the RBC membrane via a glycosylphosphatidylinositol linkage and subsequent to the assignment of the corresponding gene to the short arm of chromosome 12, expressed sequence tags from terminally differentiating human erythroid cells were analyzed in silico to identify the DO gene. This allowed determination of the molecular basis of the various Do phenotypes and the realization that DO is identical to the gene encoding a mono-ADP-ribosyltransferase, ART4. No enzymatic activity in RBCs has been demonstrated and the function of this glycoprotein, on the outside surface of RBCs, has yet to be determined. This review is a synthesis of our current knowledge of the Dombrock blood group system.

摘要

Do(a)抗原是在我开始从事免疫血液学工作之后才被发现的,我很幸运能够参与到多姆布罗克血型系统中的几项引人入胜的发现中。Do(a)抗原及其对立抗原Do(b)的发生率使其成为有用的遗传标记。可靠的抗Do(a)和抗Do(b)血清的缺乏阻碍了这一潜力的实现;然而,我们在DNA水平上对DO等位基因进行分型的能力使得对来自不同人群的队列进行检测成为可能。1992年,当发现Gy(a-)表型是多姆布罗克系统的null型时,多姆布罗克血型系统被扩展到包括三种表型相关的抗原,即Gy(a)、Hy和Jo(a)。基于多姆布罗克糖蛋白通过糖基磷脂酰肌醇连接与红细胞膜相连的知识,以及在将相应基因定位到12号染色体短臂之后,对终末分化的人类红细胞系的表达序列标签进行了电子分析以鉴定DO基因。这使得能够确定各种Do表型的分子基础,并认识到DO与编码单ADP核糖基转移酶ART4的基因相同。尚未在红细胞中证明有酶活性,并且这种位于红细胞外表面的糖蛋白的功能还有待确定。这篇综述是我们目前对多姆布罗克血型系统知识的综合。

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