Objective To identify the rare ABO*BW.11/ABO*O.01.02 subtype in the Yi ethnic group in China,and to investigate the blood group serological characteristics,molecular mechanisms,and genetic background of the ABO*BW.11/ABO*O.01.02 subtype. Methods The proband was a 25-year-old pregnant woman,with ABO typing discre-pancy in routine tests on admission. Due to the inability to accurately identify the conventional ABO blood serology,exons 1-7 of the ABO gene were analyzed by sequencing using the Sanger method,and the effect of the mutation at this site on the structure and function of B glycosyltransferase was predicted using the amino acid series homology modelling of wild-type B glycosyltransferase. Results The blood group serological results of the proband and lineage were inconsistent with the typi-cal B subtype. ABO gene sequencing unveiled a c.695T>C missense mutation in exon 7 of the ABO blood group gene in the 7 probands and family members in 4 generations,leading to the substitution of leucine by proline at position 232 of the B glycosyltransferase. Homology modeling showed that the mutation influenced the peptide and hydrogen bonds of the protein,which probably led to structural and functional alterations,diminished B-glycosyltransferase activity,and weakened expres-sion of the B antigen. Conclusions This proband carries a point mutation in the ABO allele in exon 7 c.695T>C .P.leu 232 Pro to form the ABO*BW.11/ABO*O.01.02 subtype,and is stably inherited in multiple members of this family.
维普
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