Serological and genetic analysis of a <scp>B3</scp> phenotype caused by c.<scp>259G</scp> > T in the <scp><i>ABO</i></scp> gene
Based on comprehensive serological, genetic, and simulation analyses, it is concluded that the c.259G > T mutation in exon 6 of the ABO*B.01 allele results in an amino acid change within the enzymatic active site. This alteration likely impacts protein stability and reduces B antigen expression, leading to the B3 subtype phenotype.
Authors
- Fengxia Liu (ORCID: https://orcid.org/0000-0001-5164-8112)
- Hongjun Gao (ORCID: https://orcid.org/0000-0001-7900-7042)
- Xisha Huan
- Min Zhang (ORCID: https://orcid.org/0000-0002-0919-5882)
- Ping Lei (ORCID: https://orcid.org/0000-0002-8410-7715)
- Zhen Huang (ORCID: https://orcid.org/0000-0002-9272-8343)
- Yuan Fen
- Jiang Yu
Institutions
- Central South University (CN)
- Hunan Normal University (CN)
- Hunan Provincial People's Hospital (CN)
- Wuhan YZY Biopharma (China) (CN)
- Third Xiangya Hospital (CN)
Publication Details
- Journal
- Transfusion Medicine
- Published
- 2025-04-21
- DOI
- https://doi.org/10.1111/tme.13140
- Citations
- 1
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 1.77