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The evolution and formation of RH genes
1Department of Legal Medicine and Human Genetics, Jichi Medical School, Minamikawachi-machi, Kawachi-gun, Tochigi-ken, Japan. okudahir@jichi.ac.jp
Legal Medicine (Tokyo, Japan)
|August 26, 2003
Summary
The Rh blood group system, crucial in transfusion medicine, features numerous variants encoded by RHD and RHCE genes. Understanding Rh gene evolution and variant formation is vital for accurate Rh genotyping and clinical application.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- The Rh blood group system is clinically significant, with over 40 major Rh antigens including RhD, RhC/c, and RhE/e.
- The system is characterized by numerous variants and is encoded by two genes: RHD (encoding RhD antigen) and RHCE (encoding Rh C/c and RhE/e antigens).
Purpose of the Study:
- To explore the factors contributing to the formation and evolution of Rh genes and their variants.
- To discuss the implications of new findings on Rh gene evolution for clinical practice, particularly Rh genotyping.
Main Methods:
- Analysis of nucleotide sequences of RHD and RHCE genes, including introns.
- Identification of the human Rh family and its counterparts across various species.
- Review of accumulated findings on Rh gene evolution and function.
Main Results:
- Multiple factors, including recombination, gene conversion, nucleotide substitutions, and high homology between RH genes, are implicated in Rh gene and variant evolution.
- The Rh family has homologs across diverse taxa, from primates to plants.
- Phylogenetic analysis of Rh genes is complicated by gene conversion and recombination events.
Conclusions:
- Continued evolution of Rh variants necessitates acknowledging the limitations of current Rh genotyping methods, especially for RhD.
- Careful comparison of serological data with genotyping results is essential for accurate clinical application in transfusion medicine.