Identification of a novel ABO B(A)07 allele / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the molecular basis for a novel B(A) phenotype.</p><p><b>METHODS</b>Genomic DNA was abstracted from peripheral blood sample from the proband. ABO genotyping were carried out with sequence specific primer PCR (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced.</p><p><b>RESULTS</b>Anti-A serum could not be adsorbed or eluted by the donor's red blood cells, and no irregular antibodies were found in the plasma. PCR-SSP showed that the ABO genotype of the donor was ABO *B/O. Sequencing results showed that one of the alleles was ABO *O02, while the other could not be defined but contained the following mutation points, 297A>G, 526C>G, 657C>T, 701C>T, 703G>A, 796C>A, 803G>C, and 930G>A. The data was accepted by the GenBank (the loading code was KM974887) and the Blood Group Antigen Mutation Database, and was confirmed to be a novel allele of B(A).</p><p><b>CONCLUSION</b>A novel allele ABO *B(A)07 with 701C>T has been identified, which may facilitate further study on blood antigen variants and typing of the blood groups.</p>