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

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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.