ABO Blood Group: Medical Genetics
Synopsis
The ABO blood group system, discovered by Karl Landsteiner in 1900, remains a cornerstone of transfusion medicine. The ABO gene, located at 9q34.1–q34.2, spans seven exons and encodes a Golgi glycosyltransferase. The A allele transfers UDP-GalNAc to produce the A antigen, the B allele transfers UDP-Gal to produce the B antigen, while the O allele yields a non-functional protein. A and B alleles are codominant, whereas O is recessive. The c.261delG variant in exon 6 underlies most common O alleles. A₁/A₂ subgroups, weak A and B phenotypes, cis-AB, and Bombay/para-Bombay phenotypes represent important exceptions to classical Mendelian inheritance. Molecular methods—including PCR-RFLP, PCR-SSP, Sanger sequencing, NGS, and long-read sequencing—complement serological testing and enable identification of rare and complex alleles. The ABO system exemplifies a non-linear genotype–phenotype relationship and illustrates how minor sequence changes alter enzyme specificity and antigen expression.
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