CNRGS-INSERM U665, Institut National de la Transfusion Sanguine, Paris, France; CHU Lille, Institut d'Hématologie Transfusion, Lille, France; Etablissement Français du Sang, Centre Atlantique, France.
Transfusion. 2013 Nov;53(11 Suppl 2):2990-9. doi: 10.1111/trf.12023. Epub 2012 Dec 17.
The absence of expression of C/c and E/e antigens has been associated with rare variant RHCE alleles, referred to as silent RHCE alleles, classically identified among individuals with a rare D- - or Rhnull phenotype. This work reports on different molecular mechanisms identified in three novel silent RHCE alleles.
Samples from D- - or Rhnull individuals and their family members, from families for whom Rh phenotype and/or serologic data were unexplained by inheritance of conventional RH alleles, were analyzed. Genomic DNA and transcripts were tested by sequencing analysis.
The first silent allele was a RHCEcE allele carrying an intronic IVS3+5G>A mutation. The second was a RHCEce allele carrying an intronic IVS7-2A>G mutation, whereas the third was a silent RHCE*ce allele carrying a 5-bp deletion (Nucleotides 679-683) in Exon 5.
In addition to hybrid alleles and nucleotide deletion, intronic mutations may be associated with the nonexpression of RhCE antigens. Regarding the RH system, silent alleles may not be investigated among D- - or Rhnull individuals only. Rh phenotype and/or serologic data unexplained by inheritance of conventional RH alleles should lead to molecular investigations.
C/c 和 E/e 抗原的缺失与罕见的 RHCE 等位基因有关，这些等位基因被称为沉默 RHCE 等位基因，经典地存在于具有罕见的 D-/-或 Rhnull 表型的个体中。本工作报告了在三个新的沉默 RHCE 等位基因中发现的不同分子机制。
分析了来自 D-/-或 Rhnull 个体及其家庭成员的样本，这些个体的 Rh 表型和/或血清学数据无法用常规 RH 等位基因的遗传来解释。通过测序分析测试基因组 DNA 和转录本。
第一个沉默等位基因是一个 RHCEcE 等位基因，携带内含子 IVS3+5G>A 突变。第二个是一个 RHCEce 等位基因，携带内含子 IVS7-2A>G 突变，而第三个是一个沉默的 RHCE*ce 等位基因，在 Exon 5 中携带 5 个碱基的缺失（核苷酸 679-683）。
除了杂合子和核苷酸缺失外，内含子突变也可能与 RhCE 抗原的不表达有关。对于 RH 系统，沉默等位基因不仅可以在 D-/-或 Rhnull 个体中进行研究。无法用常规 RH 等位基因遗传来解释的 Rh 表型和/或血清学数据应进行分子研究。
