Serological and molecular biological analysis of Aw43 subtype: report of two cases

Abstract

Objective To conduct serological identification and molecular study of two patients with ABO ambiguous blood group. Methods The serological tests were conducted by the tube method. DNA direct sequencing was performed to analyze the exons and transcriptional regulatory regions of the ABO gene. TA clone sequencing was performed to confirm the mutation sites of the haploid. DeepTMHMM was used for transmembrane region prediction and analysis. Results Both samples showed weak agglutination with anti-A in forward typing and the presence of anti-A antibodies in reverse typing. ABO gene analysis confirmed 1A>G and 467C>T mutations of A101 gene, indicating the Aw43 allele.DeepTMHMM analysis showed that 1A>G mutation shift back the translation start site, which would affect the transmembrane structure seriously. Conclusion The two cases of ABO ambiguous blood group were with Aw43 alleles. The 1A>G mutation affected the transmembrane region and subsequently altered the glycoprotein structure, resulting in impaired enzyme function.

Keywords

• abo ambiguous blood group
• aw43
• transmembrane region