title: The Mechanism of Allelic Competition in the ABO 547G>A Mutant is Associated with Decreased Activity of Glycosyltransferase B.
abstract: The 547G>A polymorphism demonstrates significant allelic competition in people who harbor the B306 allele. We have performed the full sequencing of ABO gene in family members and measured their serum glycosyltransferase activity for demonstrating the cause of allelic competition. Genetic study including two regulatory regions and exon 1, and exons 2-7 of ABO gene demonstrated c.547G>A in exon 7 of the proband and her second son. The ABO genotype of the proband, husband, first son, and other son was ABO*A102/ABO*B306, ABO*A105/ABO*O02, ABO*A102/ABO*O02, and ABO*B306/ABO*O02 respectively. Serum glycosyltransferse B activity in the proband and her second son was lower than in normal B controls. We infer that allelic competition in the the 547G>A carrying individuals is associated with reduced activity of glycosyltransferase B.
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, Korea.
authors.forename: Geon
authors.initials: G
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, Chonbuk National University Medical School, Jeonju, Korea Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Korea choyg@jbnu.ac.kr.
authors.forename: Yong Gon
authors.initials: YG
authors.lastname: Cho
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D005260:Female; D005434:Flow Cytometry; D060005:Genotyping Techniques; D005964:Glucosyltransferases / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: D000017:ABO Blood-Group System; C036655:1,3-alpha-D-glucan synthase; D005964:Glucosyltransferases
keywords: ABO discrepancy; Weak B; allelic competition