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Updated: Jul 11, 2025
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Detection and phenotype analysis of a novel Ael blood group allele
Cuibi Wang1, Yichao Tang2, Pingping Zhang1
1Department of Transfusion, Zhongshan Hospital (Xiamen), Fudan University, Xiamen, Fujian, China.
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.
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