Centre National de Référence pour les Groupes Sanguins, Institut National de la Transfusion Sanguine, Paris, France.
Transfusion. 2013 Feb;53(2):363-72. doi: 10.1111/j.1537-2995.2012.03743.x. Epub 2012 Jun 13.
Several studies showed in people of African descent the existence of a genetic linkage between RHD alleles encoding a variant D antigen and a given altered RHCEce allele. RHCEceBI is a rare allele encountered in people of African descent, that encodes a Hr- hr(S) - Rhce protein. Our study shows that RHCEceBI appears to be genetically linked to two very similar variant RHD alleles, RHDDOL1 and RHD*DOL2, and demonstrates for the first time that DOL-2 is a partial D antigen.
After finding out an individual with both RHCEceBI and RHDDOL presumed to be in cis, we hypothesized a genetic linkage between those two genes. All individuals (n = 7) known to carry RHCE*ceBI in our laboratory, including the index case, were fully investigated at the serologic and molecular level.
One individual with alloanti-D, being homozygous for RHCEceBI and RHDDOL2, allowed us to confirm the genetic linkage between those two genes, as well as the partial D status of DOL-2. In the six RHCEceBI remaining individuals, three were found with RHDDOL2 and 3 with RHD*DOL1, likely in cis. Three of them made an alloanti-D; one was DOL-1 and two were DOL-2.
The rare RHCEceBI allele appears to be in cis either with RHDDOL1 or with RHDDOL2 in people of African descent. DOL-1 and DOL-2 must be considered as partial D antigens. We recommend a systematic search for RHDDOL1 and RHDDOL2 in people found to carry RHCEceBI and vice versa, especially in patients with sickle cell disease.
几项研究表明，在非洲裔人群中，存在一种遗传连锁关系，即编码变体 D 抗原的 RHD 等位基因与特定的改变 RHCEce 等位基因有关。RHCEceBI 是一种在非洲裔人群中罕见的等位基因，它编码一种 Hr-hr(S)-Rhce 蛋白。我们的研究表明，RHCEceBI 似乎与两个非常相似的变体 RHD 等位基因 RHDDOL1 和 RHD*DOL2 存在遗传连锁关系，并首次证明 DOL-2 是部分 D 抗原。
在发现一个个体同时携带 RHCEceBI 和 RHDDOL 假定为顺式后，我们假设这两个基因之间存在遗传连锁关系。我们实验室中所有已知携带 RHCE*ceBI 的个体（n=7），包括索引病例，均在血清学和分子水平上进行了全面调查。
一个具有 alloanti-D 的个体，同时为 RHCEceBI 和 RHDDOL2 的纯合子，使我们能够确认这两个基因之间的遗传连锁关系，以及 DOL-2 的部分 D 状态。在其余的 6 个 RHCEceBI 个体中，发现 3 个个体携带 RHDDOL2，3 个个体携带 RHD*DOL1，可能为顺式。其中 3 个个体产生 alloanti-D；1 个为 DOL-1，2 个为 DOL-2。
在非洲裔人群中，罕见的 RHCEceBI 等位基因似乎与 RHDDOL1 或 RHDDOL2 为顺式。DOL-1 和 DOL-2 必须被视为部分 D 抗原。我们建议在发现携带 RHCEceBI 的个体中系统地搜索 RHDDOL1 和 RHDDOL2，反之亦然，尤其是在患有镰状细胞病的患者中。
