title: ABCG2 null alleles define the Jr(a-) blood group phenotype.
abstract: The high-incidence erythrocyte blood group antigen Jr(a) has been known in transfusion medicine for over 40 years. To identify the gene encoding Jr(a), we performed SNP analysis of genomic DNA from six Jr(a-) individuals. All individuals shared a homozygous region of 397,000 bp at chromosome 4q22.1 that contained the gene ABCG2, and DNA sequence analysis showed that ABCG2 null alleles define the Jr(a-) phenotype.
authors.affiliation: Rh Laboratory, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Canada. zelinski@cc.umanitoba.ca
authors.forename: Teresa
authors.initials: T
authors.lastname: Zelinski
authors.forename: Gail
authors.initials: G
authors.lastname: Coghlan
authors.forename: Xiao-Qing
authors.initials: XQ
authors.lastname: Liu
authors.forename: Marion E
authors.initials: ME
authors.lastname: Reid
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D001789:Blood Group Antigens; D009363:Neoplasm Proteins