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Allelic Cataloging of RHD-RHCE Reference Sequences Using Targeted Long-Read Sequencing
Junhyup Song1, Soon Sung Kwon1, Eun Jung Suh1
1Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Clinical Chemistry
|August 12, 2025
Summary
High-fidelity long-read sequencing accurately characterized RHD-RHCE alleles, revealing their evolutionary origins and improving blood group genotyping. This systematic approach enhances transfusion medicine by clarifying complex Rh antigen variations.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Blood group genotyping is crucial for transfusion medicine but challenged by complex Rh antigen genetics.
- High sequence homology between RHD and RHCE genes complicates accurate genotyping.
- Need for systematic characterization of molecular variations in the RHD-RHCE region.
Purpose of the Study:
- To systematically characterize molecular variations in the RHD-RHCE region using advanced sequencing.
- To improve the accuracy of blood group genotyping by understanding Rh antigen expression.
- To elucidate the evolutionary relationships of RHD-RHCE alleles.
Main Methods:
- Custom target enrichment and high-fidelity (HiFi) long-read sequencing of the RHD-RHCE region in 63 individuals.
- Alignment to GRCh38, variant identification, phasing, and generation of allelic reference sequences.
- Phylogenetic analyses to classify alleles and understand evolutionary patterns.
Main Results:
- Enabled phasing of distant heterozygous variants and precise characterization of structural and tandem repeat variations.
- Achieved complete phase resolution in 76.2% of samples, generating 96 allelic reference sequences.
- Identified characteristic sequence patterns within phylogenetic clades spanning RHD to RHCE.
Conclusions:
- The Eurasian allelic pool for RHD-RHCE originated from two distinct lineages, shaped by recombination.
- Treating RHD and RHCE as a single evolutionary unit offers advantages for molecular typing.
- This systematic characterization enhances understanding of Rh haplotype diversity for transfusion medicine.
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