HUANG Ying,HU Siqun,WEN Zhengjing, et al. An analysis of the A2B subtype caused by c.539G>C mutation in exon 7 of ABO gene[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2024, 54(3): 233-235.
Abstract：Objective: To investigate the results of the A2B subtype caused by ABO gene exon 7 c.539G>C mutation. Methods: ABO blood typing was analyzed by the tube agglutination method. Gene sequencing and analysis were performed usingthe Sanger sequencing method. Results: Four probands had A weak B phenotype,which were defined as A2B blood type according to serological characteristics. No anti-A1 antibodies were detected in the serum of probands 1, 3, and 4. Anti-A1 antibodies existed in the serum of proband 2. The genotype of the four probands was ABO*A2.08/ABO*B.01. Sequencing results showed that compared with the A102, A208 had mutations at c.467C>T and c.539G>C positions, resulting in the substitution of the peptide chains P156L and R180P. Conclusion: The c.539G>C mutation in the gene of α-1, 3-N-acetylgalactosamine transferase has produced the A208 phenotype.
