Zelinski T, Punter F, McManus K, Coghlan G
Department of Pediatrics, Faculty of Medicine, University of Manitoba, Winnipeg, Canada.
Vox Sang. 1998;75(1):63-5.
The low incidence red cell antigen ELO (700.51) has been excluded from 13 of 23 established blood group systems. Information relative to the Diego system has not been reported. To investigate a possible association between ELO and the gene controlling Diego blood group polymorphisms, we undertook molecular studies of AE1 (anion exchanger 1 gene).
DNA from a family segregating for ELO and from the original ELO proposita was amplified by PCR using intronic primers flanking exons 11-20 of AE1. Subsequently, single-strand conformational polymorphism (SSCP) analysis and DNA sequencing were conducted.
We have observed an exon 12 SSCP in all ELO+ individuals tested. This SSCP is the result of a C-->T mutation in exon 12 of AE1 which leads to an Arg432-->Trp amino acid substitution in the putative first extracellular loop of band 3 and thereby accounts for the Diego blood group system polymorphism known as ELO.
In light of these findings, the International Society of Blood Transfusion Working Party on Terminology for Red Cell Surface Antigens has designated ELO as a member of the Diego blood group system (010008 or D18) and rendered the previous numerical designation (700.51) obsolete.
低发率红细胞抗原ELO（700.51）已被排除在23个已确立的血型系统中的13个之外。关于迭戈血型系统的相关信息尚未见报道。为了研究ELO与控制迭戈血型多态性的基因之间可能存在的关联，我们对阴离子交换蛋白1基因（AE1）进行了分子研究。
使用位于AE1基因第11至20外显子两侧的内含子引物，通过聚合酶链反应（PCR）扩增一个ELO血型分离家族以及最初的ELO血型供者的DNA。随后进行单链构象多态性（SSCP）分析和DNA测序。
我们在所有检测的ELO阳性个体中观察到第12外显子的SSCP。这种SSCP是AE1基因第12外显子中C→T突变的结果，该突变导致带3假定的第一个细胞外环中第432位精氨酸替换为色氨酸，从而解释了被称为ELO的迭戈血型系统多态性。
鉴于这些发现，国际输血协会红细胞表面抗原术语工作小组已将ELO指定为迭戈血型系统的一个成员（010008或D18），并使先前的数字编号（700.51）过时。
