α-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation leads to the A2B isoform.

In this study, the phenotypic identification and molecular mechanism of one case of an A2B subtype pedigree was investigated. ABO blood groupings were identified by serological methods and sequence amplification was performed by polymerase chain reaction (PCR) using TA cloning and DNA sequencing analysis to identify the pedigree and the ABO gene haploid of the proband. There were both A and B antigens on the proband's red blood cells, and anti-A1 antibodies were found in the serum. Direct sequencing of the 6th and 7th exons of the ABO gene showed the A208/B101 genotype, and haploid determination revealed the A208 and B101 alleles. Compared with the A102 allele sequence, the A208 allele was mutated at the 539 G>C site. Pedigree analysis showed that the ABO blood phenotypes of the proband's father, mother, husband, and daughter were A2, B, AB, and A2B, respectively, and their genotypes were A208/O02, B101/B101, A102/B101, and A208/B101, respectively. The father of the proband had anti-A1 antibodies and the A208 allele of the proband was inherited from her father, which can be passed on to her daughter. The α-1, 3-N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A2B phenotype generation, and individual serum contained the anti-A1 antibody.

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