Determining the frequency of colton blood group antigens Coa and Cob in the Maltese population

[摘要] T; rs28362692), responsible for the single amino acid change of Ala45Val (alanine for Coa and valine for Cob at position 45) (NP_932766:p.Ala45Val) within the AQP1 protein chain. As a result of the missense variant, the Colton phenotypes Co(a+b-), Co(a+b+) and Co(a-b+) could be identified through the stipulated PCR-ASPE technique, and the rare phenotype, Co(a-b+), if detected, would also be subjected to DNA sequencing. Analysis of raw data unveiled that the Co(a+b-) phenotype was the most prevalent in both the donor pool (88.23%) and the cord blood pool (86.04%), whilst the Co(a+b+) phenotype revealed a lower occurrence in the donor pool (5.88%) and the cord blood pool (6.98%). The Co(a-b+) was not encountered in the donor and cord blood samples tested, negating the need for DNA sequencing. The novelty of this study can be seen in the unprecedented determination of the frequency of the Coa and Cob antigens within the Maltese population. Outlining the Colton blood group antigen frequencies is a significant step to understand any susceptibilities to the development of the pertinent antibodies, thus aiding in the reduction of Haemolytic Transfusion Reactions (HTRs) and Haemolytic Disease of the Foetus and Newborn (HDFN). Moreover, research of this calibre would expand the local database of molecular typing of blood group antigens, improving transfusion.

[学科分类] 卫生学

[关键词] Blood group;Colton system;AQP1;missensevariant;genotyping;antigen frequency