Omi T, Takahashi J, Tsudo N, Okuda H, Iwamoto S, Tanaka M, Seno T, Tani Y, Kajii E
Department of Legal Medicine and Human Genetics, Jichi Medical School, Minamikawachi-machi, Tochigi, 329-0498, Japan.
Biochem Biophys Res Commun. 1999 Jan 27;254(3):786-94. doi: 10.1006/bbrc.1998.0121.
Within the Rh blood group, the partial D phenotype is a well known RhD variant, that induces Rh-incompatible blood transfusion and hemolytic diseases in the newborn. The partial D category DVa phenotype (DVa Kou.) results from a hybrid of RhD-CE-D transcript. We demonstrated a genomic organization of the hybrid RHD-CE-D gene leading to the DVa phenotype, and showed that the DVa gene were generated from gene conversion between the RHD and the RHCE genes in relatively small regions. This study also revealed that the presence of a new partial D associated with the DVa phenotype, which we termed the DVa-like phenotype. In this phenotype, five RHD-specific nucleotides were replaced with the corresponding RHCE-derived nucleotides on the exon 5 of the RHD gene. In addition, two variants of the mutated RHD genes at nucleotide 697 were revealed in the RhD variant samples. These results will provide useful information for future research into the diversification of the Rh polypeptides.
在Rh血型系统中，部分D表型是一种众所周知的RhD变异体，可导致新生儿发生Rh血型不相容输血和溶血性疾病。部分D类别DVa表型（DVa Kou.）是由RhD-CE-D转录本杂交产生的。我们展示了导致DVa表型的杂交RHD-CE-D基因的基因组结构，并表明DVa基因是由RHD和RHCE基因在相对较小区域内的基因转换产生的。这项研究还揭示了一种与DVa表型相关的新的部分D的存在，我们将其称为类DVa表型。在这种表型中，RHD基因外显子5上的五个RHD特异性核苷酸被相应的RHCE衍生核苷酸取代。此外，在RhD变异体样本中发现了核苷酸697处突变的RHD基因的两种变体。这些结果将为未来Rh多肽多样化的研究提供有用信息。
