Identification of a novel Ax allele of the ABO blood group / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the molecular basis for an individual with Ax28 phenotype of the ABO subtype.@*METHODS@#The ABO group antigens on red blood cells of the proband were identified by monoclonal antibodies. The ABO antibody in serum was detected by standard A, B, O cells. Exons 1 to 7 of the ABO gene were respectively amplified by PCR and directly sequenced. Amplicons for exons 5 to 7 were also sequenced after cloning.@*RESULTS@#Weakened A antigen was detected on red blood cells from the proband. Both anti-A and anti-B antibodies were detected in the serum. Heterozygous 261G/del was detected in exon 6, while heterozygous 467C/T and 830T/C were detected in exon 7 by direct DNA sequencing. After cloning and sequencing, two alleles (O01 and Ax28) were obtained. Compared with A102, the sequence of Ax28 contained one nucleotide changes (T to C) at position 830, which resulted in amino acid change (Val to Ala) at position 277.@*CONCLUSION@#The novel mutation c.830T>C of the galactosaminyltransferase gene may give rise to the Ax28 phenotype.