Guocai Li, Fang Li, Fengxia Liu. Serology and gene sequence analysis of rare subgroup A3 blood group[J]. Blood&Genomics, 2022, 6(1): 37-42. DOI: 10.46701/BG.2022012022001
Citation: Guocai Li, Fang Li, Fengxia Liu. Serology and gene sequence analysis of rare subgroup A3 blood group[J]. Blood&Genomics, 2022, 6(1): 37-42. DOI: 10.46701/BG.2022012022001

Serology and gene sequence analysis of rare subgroup A3 blood group

  • To investigate the serological phenotypic characteristics and possible mechanism of subgroup A3, a blood donor's ABO phenotypes were detected by the conventional microcolumn gel method and classic tube method. N-acetylgalactosaminyl transferase activity was detected by the non-radioactive phosphate coupling method. ABO subtype genotyping was determined by PCR-SSP and exons 1-7 of ABO gene were analyzed by Sanger sequencing. The donor's blood type was subgroup A3 as evaluated by serological test. There was no N-acetylgalactosaminyl transferase activity in the red blood cells and weak N-acetylgalactosaminyl transferase activity in the plasma. The ABO blood group genotyping result was ABO*AO1, and the gene sequencing result was confirmed as A221/O01. Sequencing results showed two mutations, 467C>T and 607G>A in exon 7 in ABO*A allele. In conclusion, it is suggested that the ABO blood group of the donor be subgroup A3, which may be induced by mutations 467C>T and 607G>A, and led to a decrease in N-acetylgalactosaminyl transferase activity and resulted in weakened A antigen.
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