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March 20, 2026Transfusion

Novel intron 1 variant c.28+ 5808C >T on an ABO*A1.01 background is associated with an A ₃ phenotype

Yongkui Kong Huifang Jin Di Zhu Xiaoyan Zhang Zhuanyun Du

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Key Points

This research aims to explore the association between a specific intron variant and the A3 phenotype in the ABO*A1.01 genetic background.
Genetic analysis focused on the intron 1 region of the ABO gene.
Phenotypic evaluation of the A3 blood type linked to genetic variations.
A novel association was found between the intron variant c.28+5808C>T and the A3 phenotype.
The identified variant is situated on an ABO*A1.01 background, suggesting a potential linkage.

Implication

Novel variant c.28+5808C>T influences A3 phenotype via ABO*A1.01 gene background, indicating a potential key genetic relationship.

Abstract

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Cite This Study

Kong et al. (2026) studied this question.

synapsesocial.com/papers/69bf8641f665edcd009e8d53 https://doi.org/10.1111/trf.70188

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Identification of a novel <i>ABO*A1.01</i> allele with c. <scp>562C</scp> >T (p. <scp>Arg188Cys</scp> ) mutation associated with A <sub>el</sub> phenotype in a Chinese individualOriginal Research · 2026
2Identification of a novel A allele with a c. <scp>610G</scp> >A variation on the <i>ABO*A1.02</i> alleleOriginal Research · 2026
3Identification of a novel c.<scp>77T</scp>>G mutation on the ABO*B.01 allele associated with a B subtype2024
4Identification of a novel A allele with a c.<scp>421T</scp>>C variant on the <i>ABO*A1.02</i> allele in a Chinese individual2024 · 1 citations
5Identification of a novel A allele with a c.374 + 3_374 + <scp>6delAAGT</scp> splicing variant in a Chinese individualOriginal Research · 2026

More related papers

A novel c.29‐<scp>3C</scp>>G variant on the <i>B</i> allele forms the B<sub>el</sub> phenotype2024
Identification of a novel c.150dup variant on the <i>ABO*B.01</i> allele associated with a weak B phenotype2026
Identification of a novel <i>A</i> allele with a nucleotide deletion c.<scp>198delG</scp> in the <i>ABO</i> gene associated with A<sub>el</sub> phenotype2024

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