The molecular genetic analysis and its application of single nucleotide polymorphisms and microsatellite in both RH genes.

由Levine和Stetson发现的Rh血型是临床上最重要的血型之一。许多血清学研究已经发现并鉴定出许多变异株，如D-、部分D和40多种抗原。20世纪80年代的研究证实Rh抗原是多肽。克隆编码Rh多肽的cDNA，并与每种表型进行比较。20世纪90年代的研究表明，Rh系统是由两个基因编码的，称为RHCE和RHD，这两个基因紧密相连，高度同源，每个基因由10个外显子组成。认为RH基因的多重重组（和/或基因转换）、核苷酸替换、小的核苷酸缺口、微卫星的复制滑移、大的核苷酸缺口（由Alu序列引起）以及RH基因和Rh变体之间的高度同源性（%）是RH基因和Rh变体形成和进化的重要因素，本文分析了Rh变体DTI（partial D）、Rh_<mod>和weakD，并报道了它们的分子遗传背景。由于通过分析这些Rh变体获得的结果，（DTI（partial D），Rhmod和weakD），推测Rh抗原表达的机制含有基因Rhced（人基因RH 30的直向同源物）的区域的小鼠基因组序列，确定阐明Rhced及其侧翼区的结构，并将其与相应的人基因组区域进行比较。系统发育树分析认为，在进化过程中，RHCE基因通过正选择作用转变为具有其他功能的基因，而RHD基因在进化过程中随着时间的推移转变为假基因。

The Rh blood group discovered by Levine and Stetson is clinically one of the most important blood groups. Many serological investigations have revealed and a lot of variants such as D-, partial D and antigens from forty up were identified. Studies during the 1980s confirmed that Rh antigens were polypeptides. Their cDNAs coding Rh polypeptides were cloned and compared with each phenotype. Investigations during the 1990s indicated that the Rh system was encoded on two genes termed RHCE and RHD, which are closely linked, highly homologous and consist of ten exons each. It is thought that multiple recombination (and/or gene conversion), nucleotide substitutions, small nucleotide gaps, replication slippage of microsatellite, large nucleotide gaps (due to Alu sequence) and the high level of the homology (%) between both RH genes is the important factors in the formation and evolution of both RH genes and Rh variants.We analyzed DTI (partial D), Rh_<mod> and weakD, which are Rh variant, and reported the molecular genetic background of them. Due to the findings obtained by the analysis of these Rh variants (DTI(partial D), Rhmod and weakD), we speculated the mechanism of the expression of Rh antigen (polypeptide).The mouse genomic sequence of the region containing the gene Rhced, the orthologue to the human gene RH30, was determined to elucidate the structure of Rhced and its flanking regions and to compare these with the corresponding human genomic region.Due to the analysis of phylogenetic trees, it is supposed that the RHCE changes into the gene which acquire other function by positive selection and the RHD genes varies into pseudogene in process of time during evolution.