Background and objectives: The presence of blood subtypes may lead to difficulties in blood group identification; however, third-generation sequencing (TGS) can help in accurately identifying difficult blood groups, and study the serological characteristics and molecular mechanism of Ael subtypes.
Materials and methods: ABO blood group was identified by the standard serological technique, weak blood group antigen was identified by adsorption-elution experiments, ABH substance in the saliva was determined and glycosyltransferase activity of A and B was detected. The ABO gene full-length sequence and promoter region were amplified by specific primers using single-molecule real-time sequencing, with the amplified products being sequenced directly and analysed in real time.
Results: The patient was serologically identified as Ael subtype, and TGS analysis revealed new intron mutations in Ael patients (c.467C>T; c.29-10T>A).
Conclusion: The discovery of the new allele and the identification of ABO subtypes can be combined with serological characterization and molecular biological methods.
Keywords: ABO blood group; Ael subtype; adsorption-elution experiments; gene sequencing; single-molecule real-time sequencing.
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