Bw phenotype associated with novel start codon variant of ABO gene

Le résumé fourni par la source

The ABO gene and its seven coding exons produce one of the two major glycosyltransferases. Genetic alterations reduce the activity of the enzymes or change their subcellular location, thereby reducing the conversion of H antigen to A antigen or B antigen, which may result in a weak A or B subpopulation phenotype.1 A total of 351 weak ABO subgroup cases were detected among approximately 1.45 million Chinese samples; 44 weak ABO subgroup alleles were found in 227 subjects, which included four unknown Bw alleles. 2 The Germany study genotyped 1,693,287 samples for ABO and identified that the frequency of Bw novel alleles ranged from 0.01% to 0.05% in German.3 In this report, c.1A>G in exon 1 on the ABO*B.01allele was identified, and this start codon variant gives rise to a rare Bw phenotype.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.