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Updated: Oct 8, 2025
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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New ABO intron 1 variant alleles
K Fennell1, M A Keller2, M A Villa3
1Laboratory Manager, Thermo Fisher Scientific , Austin, TX.
Immunohematology
|December 29, 2021
Summary
Eight new genetic alterations in ABO alleles were identified in 15 cases with unusual ABO blood group phenotypes. Molecular and serologic characterization of these ABO alleles aids in resolving blood group discrepancies.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Unusual ABO phenotypes often result from genetic variants affecting ABO transferase activity and antigen expression.
- Reduced or undetectable ABO antigen expression can lead to significant discrepancies in blood grouping.
Purpose of the Study:
- To identify and characterize novel genetic alterations responsible for reduced or undetectable ABO antigen expression.
- To investigate the molecular basis of discrepant ABO phenotypes.
Main Methods:
- Standard forward and reverse ABO grouping, adsorption-heat elution, and saliva testing were performed.
- Genomic DNA was PCR-amplified to cover the ABO coding sequence, splice junctions, promoter, and intron 1 enhancer.
- Amplified products were sequenced using next-generation or Sanger methods.
Main Results:
- Eight previously unreported ABO alleles were identified in 15 analyzed cases.
- Variants were found to alter splice sites (intron 1 donor/acceptor) and transcription factor-binding sites (GATA-1, RUNX1, C/EBP) within the ABO gene.
- Specific novel alleles include ABO*A(28+1C), ABO*A(29-5G), ABO*A(28+5792T), ABO*A(28+5859A), ABO*A(28+5860G), ABO*B(28+5877T), ABO*B(28+5878G), and ABO*A(28+5843A).
Conclusions:
- The identified genetic alterations provide molecular explanations for reduced or absent ABO antigen expression.
- Molecular and serologic characterization of ABO alleles is crucial for accurate blood group identification.
- This study contributes to resolving complex cases of ABO discrepancies.
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