ArticleJournal of human genetics2018
Two large deletions extending beyond either end of the RHD gene and their red cell phenotypes.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Geographic boundary for the Asian-type DEL in south Asia.iScience · 2026Article
- An RHD gene variant, common in southern Chinese Han, involves a short 688 bp deletion and a long 21.8 kb insertion in the RHD exon 10 non-coding region, affecting the accuracy of red cell genotyping.Journal of translational medicine · 2026Article
- Transitioning a multiethnic donor pool from serologic D-negative to molecularly RHD-negative at a hospital-based blood donor service.Journal of translational medicine · 2025Article
- Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.Blood transfusion = Trasfusione del sangue · 2024Article
- Rh flow cytometry: An updated methodology for D antigen density applied to weak D types 164 and 165.Transfusion · 2023Article
- Serologically D-negative blood donors in Thailand: molecular variants and diagnostic strategy.Blood transfusion = Trasfusione del sangue · 2023Article
- DEL in China: the D antigen among serologic RhD-negative individuals.Journal of translational medicine · 2021Review
- Frameshift variations in the RHD coding sequence: Molecular mechanisms permitting protein expression.Transfusion · 2020Review
- DEL.Blood transfusion = Trasfusione del sangue · 2020Article
- Mosaicism by somatic non-functional mutations: one cell lineage at a time.Haematologica · 2019Article
- Molecular characterization of variant D antigen expression among 56,445 blood donors in East India.Blood transfusion = Trasfusione del sangueArticle
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Only two partial deletions longer than 655 nucleotides had been reported for the RHD gene, constrained within the gene and causing DEL phenotypes. Using a combination of quantitative PCR and long-range PCR, we examined three distinct deletions affecting parts of the RHD gene in three blood donors. Their RHD nucleotide sequences and exact boundaries of the breakpoint regions were determined. DEL phenotypes were caused by a novel 18.4 kb deletion and a previously published 5.4 kb deletion of the RHD gene; a D-negative phenotype was caused by a novel 7.6 kb deletion. Examination of the deletion-flanking regions suggested microhomology-mediated end-joining, replication slippage, and non-homologous end-joining, respectively, as the most likely mechanisms for the three distinct deletions. We described two new deletions affecting parts of the RHD gene, much longer than any previously reported partial deletion: one was the first deletion observed at the 5' end of the RHD gene extending into the intergenic region, and the other the second deletion observed at its 3' end. Large deletions present at either end are a mechanism for a much reduced RhD protein expression or its complete loss. Exact molecular characterization of such deletions is instrumental for accurate RHD genotyping.
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