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RHCE*ceTI 编码部分 c 和部分 e,并且通常与 RHD*DIVa 顺式排列。

RHCE*ceTI encodes partial c and partial e and is often in cis to RHD*DIVa.

机构信息

Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York 10065, USA.

出版信息

Transfusion. 2013 Apr;53(4):741-6. doi: 10.1111/j.1537-2995.2012.03800.x. Epub 2012 Jul 13.

Abstract

BACKGROUND

In the Rh blood group system, variant RhD and RhCE express several partial antigens. We investigated RH in samples with partial DIVa that demonstrated weak and variable reactivity with anti-C.

STUDY DESIGN AND METHODS

Standard hemagglutination techniques, polymerase chain reaction-based assays, and RH sequencing were used.

RESULTS

DNA analysis showed that six red blood cell (RBC) samples with weak and inconsistent reactivity with anti-C lacked RHCEC, but all had RHDDIVa, which encodes partial D and Go(a) . We then tested RBCs from 19 Go(a+) cryopreserved samples (confirmed to have RHDDIVa) with four anti-C and observed weak variable reactions. RHCE genotyping found all but one of the samples with RHDDIVa also had RHCE nt 48G>C and 1025C>T, named RHCEceTI. Lookback of samples referred for workup and found to have either allele revealed 47 of 55 had both RHDDIVa and RHCEceTI, four had RHDDIVa without RHCEceTI, and four had RHCEceTI without RHDDIVa. Alloanti-c was found in a patient with c+ RBCs and RHCEceTI in trans to RHCECe, and alloanti-e was found in a patient with e+ RBC and RHCEceTI in trans to RHCEcE. RHDDIVa in trans to RHD erroneously tested as RHD hemizygous.

CONCLUSIONS

RHDDIVa and RHCEceTI almost always, but not invariably, travel together. This haplotype is found in people of African ancestry and the RBCs can demonstrate aberrant reactivity with anti-C. RHCEceTI encodes partial c and e antigens. We confirm that RHD zygosity assays are unreliable in samples with RHDDIVa.

摘要

背景

在 Rh 血型系统中,变异型 RhD 和 RhCE 表达几种部分抗原。我们研究了部分 DIVa 表现出与抗-C 弱且可变反应性的样本中的 RH。

研究设计和方法

使用标准血凝技术、聚合酶链反应检测和 RH 测序。

结果

DNA 分析表明,六个与抗-C 弱且不一致反应的红细胞 (RBC) 样本缺乏 RHCEC,但均具有 RHDDIVa,其编码部分 D 和 Go(a)。然后,我们用四种抗-C 测试了 19 个 Go(a+)冷冻保存样本(确认为 RHDDIVa)的 RBC,并观察到弱的可变反应。RHCE 基因分型发现除一个样本外,所有具有 RHDDIVa 的样本还具有 RHCE nt 48G>C 和 1025C>T,命名为 RHCEceTI。对因工作需要送检的样本进行回顾性研究发现,47/55 的样本既有 RHDDIVa 又有 RHCEceTI,4 个样本没有 RHCEceTI,但有 RHDDIVa,4 个样本没有 RHDDIVa,但有 RHCEceTI。在一个具有 c+ RBC 和 RHCEceTI 与 RHCECe 反式的患者中发现了 alloanti-c,在一个具有 e+ RBC 和 RHCEceTI 与 RHCEcE 反式的患者中发现了 alloanti-e。与 RHD 错误地检测为 RHD 半合子的 RHDDIVa 反式。

结论

RHDDIVa 和 RHCEceTI 几乎总是,但并非总是如此,一起传播。这种单倍型存在于非洲裔人群中,RBC 可能与抗-C 表现出异常反应性。RHCEceTI 编码部分 c 和 e 抗原。我们证实,在具有 RHDDIVa 的样本中,RHD 杂合性检测不可靠。

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本文引用的文献

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