Halter Hipsky C, da Costa D C, Omoto R, Zanette A, Castilho L, Reid M E
Laboratory of Immunochemistry, New York Blood Center, New York, NY 10065, USA.
Immunohematology. 2011;27(2):66-7.
The alleles RHCEceBI (RHCEce 48C, 712G, 818T, 1132G) and RHCEceSM (RHCEce 48C, 712G, 818T) encode the low-prevalence Rh antigen STEM. These alleles frequently travel in cis with RHDDOL. To estimate the frequency of these alleles, we tested a total of more than 700 samples in two populations. Blood samples were obtained from patients with sickle cell disease and from blood donors of African descent. DNA extractions and analyses were performed by standard methods. In the United States, none of 70 patient samples had the RHCE818 nucleotide change. Two of 220 donors (frequency of 0.009) were heterozygous for RHCE818C/T (RHCEceBI). One of these samples had RHD/RHDDOL and the other had RHD/RHDDOL-2. In these 290 samples, no other RHDDOL alleles were found. In Brazil, 1 of 244 patients with sickle cell disease (frequency of 0.004) and 1 of 171 donors (frequency of 0.006) were heterozygous for RHCE818C/T (RHCEceBI). Testing of more than 500 additional samples from people of African descent, selected because they had a diverse range of common and variant RHCE alleles, did not reveal a sample with RHDDOL or RHD/RHDDOL-2 in the absence of RHCEce(818T). Although the numbers are small, our study shows that in the United States, the frequency of RHCE818T is 0.007 (2 in 290 samples) and in Brazil it is 0.004 (2 in 515 samples). The four RHCE818T alleles were RHCE*ceBI.
等位基因RHCEceBI（RHCEce 48C、712G、818T、1132G）和RHCEceSM（RHCEce 48C、712G、818T）编码低频率的Rh抗原STEM。这些等位基因常与RHDDOL处于顺式状态。为了估计这些等位基因的频率，我们在两个人群中总共检测了700多个样本。血液样本取自镰状细胞病患者和非洲裔献血者。DNA提取和分析采用标准方法进行。在美国，70份患者样本中均未出现RHCE818核苷酸变化。220名献血者中有2名（频率为0.009）为RHCE818C/T（RHCEceBI）杂合子。其中一个样本为RHD/RHDDOL，另一个为RHD/RHDDOL-2。在这290个样本中，未发现其他RHDDOL等位基因。在巴西，244名镰状细胞病患者中有1名（频率为0.004）和171名献血者中有1名（频率为0.006）为RHCE818C/T（RHCEceBI）杂合子。对另外500多个非洲裔人群的样本进行检测，这些样本因具有多种常见和变异的RHCE等位基因而被选中，结果未发现一个在没有RHCEce(818T)的情况下带有RHDDOL或RHD/RHDDOL-2的样本。尽管样本数量较少，但我们的研究表明，在美国，RHCE818T的频率为0.007（290个样本中有2个），在巴西为0.004（515个样本中有2个）。四个RHCE818T等位基因均为RHCE*ceBI。
