Article
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 - 12 May 2026
Wen Jizhi, He Fei, Veldhuisen Barbera, Mo Chunyan, Wei Ling, Jia Shuangshuang, van der Schoot C Ellen, Flegel Willy Albert, Ji Yanli
Abstract excerpt
BACKGROUND: Accurate typing of the D antigen is critical to provide guidance for blood transfusion and safe management of Rh-incompatible pregnancies. RHD genotyping assays have been widely adopted to improve D variant detection, especially for common RHD alleles with missense variants and RHD-CE-D hybrids. Few structural variants of the RHD gene are known to involve large fragments of non-RH sequences, despite...
Topics
- Humans
- Base Sequence
- China
- Ethnicity
- Exons
- Gene Frequency
- Genotype
- Genotyping Techniques
- Mutagenesis, Insertional
- Rh-Hr Blood-Group System
- Sequence Deletion
- East Asian People
