[Analysis of an ABO subtype with a novel variation]

Area of Science:

• Genetics
• Immunology
• Molecular Biology

Background:

• The ABO blood group system is crucial for transfusion compatibility and understanding human genetic diversity.
• Subtypes within the ABO system can lead to discrepancies in blood typing and potential transfusion reactions.

Purpose of the Study:

• To investigate the molecular basis of an uncommon ABO subgroup.
• To characterize the genetic variations responsible for the observed blood group phenotype.

Main Methods:

• ABO phenotyping using standard tube agglutination methods.
• Sanger sequencing of ABO gene exons.
• Cloning sequencing for detailed haplotype analysis of exons 6 and 7.

Main Results:

• Forward and reverse typing revealed a distinct ABO subgroup phenotype.
• Sequencing identified multiple heterozygous variants in the ABO gene.
• Cloning sequencing pinpointed a novel c.608A>G variant in the A allele, differentiating it from ABO*A1.02.

Conclusions:

• A new variant site, c.608G, within the ABO gene associated with subtype A has been identified.
• This discovery contributes to the detailed molecular characterization of ABO blood group variations.