Identify a novel B subgroup allele of α1,3 galactosyltransferase

Abstract

Objective To analyze the ABO genetic background in a rare B elution subtype and identify a novel ABO allele. Methods One sample with discrepancy of serological tests was directly sequenced for Exon 6 and Exon 7 at ABO locus and its haploid types. The genomie DNAs were further detected for the CBF/NF-Y ministatellite enhancer region of ABO gene. Results A novel B allele was identified in a Bel individual. The B allele was different from the common B101 allele by n905A>G missense mutation, which resulted in an amion acid change from Asp to Gly at 302 locus. The allele was defined as Bel new allele and registered as number FJ009674 on Genbank. The sample had four 43-bp minisatellite repeats within the CBF/NF-Y enhancer region with G/C type. Conclusion905A > G mutation in the al, 3 galactosyltransferase may be one of genetic bases of Bel phenotype. The change of amino acid at 302 locus may greatly affect the activity of galactosyltransferase. Key words: ABO subtype; sequence analysis; activity of the glycosyltransferases