[Genetic analysis of weakened expression of ABO blood group antigen in 20 cases]

To explore the molecular mechanism for weakened expression of ABO blood group antigens in 20 cases.

Blood samples were collected from 20 cases with weakened expression of ABO blood group antigens, including 12 children undergoing elective surgery and 8 of their parents or grandparents. Serological identification of the ABO blood group was performed using microcolumn agglutination method and saline test tube method. The PCR products of exons 1-7 and their upstream promoter region of the ABO gene were directly sequenced for genotyping.

In 11 of the cases, the ABO genotype could be determined by pedigree analysis (including 1 case of ABO*A2.01/ABO*B.01, 1 case of ABO*A2.01/ ABO*O01.01, 1 case of A1.02/B3.04, 2 cases of B3.04/O.01.01, 2 cases of B3.02/O.01.02, and 4 cases of Bw.12/O.01.01). Pedigree analysis revealed deletion mutation at -35_-18 nt in the ABO promoter region in 3 cases, indicating that the mutation occurred in the B allele; a C > T mutation occurred at -119 nt in the ABO promoter region in 1 case; a C deletion at 1054 nt in exon 7 was identified in 1 case; no mutation was found in exons 1-7 and their regulatory region of ABO gene in 4 cases.

The C > T mutation at-119 nt in the promoter region and the deletion mutation at 1054 nt in exon 7 of ABO gene are probably new mutations leading to abnormal expression of ABO blood group antigens. Some ABO subtypes may be associated with abnormal introns or mRNA synthesis.