Faas B H, Beckers E A, Simsek S, Overbeeke M A, Pepper R, van Rhenen D J, von dem Borne A E, van der Schoot C E
Central Laboratory, The Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands.
Transfusion. 1996 Jun;36(6):506-11. doi: 10.1046/j.1537-2995.1996.36696269508.x.
Almost all red cells that carry D and/or C antigens also express the G antigen (Rh12). A study was conducted on the molecular background of the G epitope.
Two unrelated donors with the rare ccDEe, G- phenotype and one donor with the ccEe, G+ phenotype were studied. Genomic DNA and cDNA of these donors were studied with polymerase chain reaction, Southern blot, and sequence analysis, with special focus on exon 2, because it is only in this exon that there are supposed to be similarities between RHD and the RHC allele, but not between RHD and the RHc allele.
In both ccDEe, G- donors, a nucleotide substitution was found in exon 2 of RHD; T307 was replaced by C307, which predicted a Ser->Pro substitution at amino acid position 103 of the D polypeptide. The ccEe, G+ donor carried the complete exon 2 of RHD. Moreover, despite the absence of all known D epitopes, this donor also carried RHD characteristics in exons 1 to 3 and exon 9 and further downstream.
Ser103, encoded by exon 2 of the RH genes, is involved in G epitope formation.
几乎所有携带D和/或C抗原的红细胞也表达G抗原(Rh12)。对G表位的分子背景进行了一项研究。
研究了两名具有罕见ccDEe、G-表型的无关供体和一名具有ccEe、G+表型的供体。对这些供体的基因组DNA和cDNA进行了聚合酶链反应、Southern印迹和序列分析,特别关注外显子2,因为只有在这个外显子中,RHD与RHC等位基因之间才应该存在相似性,而RHD与RHc等位基因之间不存在相似性。
在两名ccDEe、G-供体中,在RHD的外显子2中发现了一个核苷酸替换;T307被C307取代,这预测了D多肽第103位氨基酸处的Ser->Pro替换。ccEe、G+供体携带RHD的完整外显子2。此外,尽管缺乏所有已知的D表位,但该供体在第1至3外显子、第9外显子及更下游也具有RHD特征。
RH基因外显子2编码的Ser103参与G表位的形成。