ABCG2 null alleles define the Jr(a-) blood group phenotype

Teresa Zelinski; Gail Coghlan; Xiao-Qing Liu; Marion E Reid

doi:10.1038/ng.1075

ABCG2 null alleles define the Jr(a-) blood group phenotype

Nat Genet. 2012 Jan 15;44(2):131-2. doi: 10.1038/ng.1075.

Authors

Teresa Zelinski¹, Gail Coghlan, Xiao-Qing Liu, Marion E Reid

Affiliation

¹ Rh Laboratory, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Canada. zelinski@cc.umanitoba.ca

PMID: 22246507
DOI: 10.1038/ng.1075

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

ATP Binding Cassette Transporter, Subfamily G, Member 2
ATP-Binding Cassette Transporters / genetics*
Base Sequence
Blood Group Antigens / genetics*
Chromosomes, Human, Pair 4 / genetics*
Female
Homozygote
Humans
Male
Molecular Sequence Data
Neoplasm Proteins / genetics*
Polymorphism, Single Nucleotide
Sequence Analysis, DNA

Substances

ABCG2 protein, human
ATP Binding Cassette Transporter, Subfamily G, Member 2
ATP-Binding Cassette Transporters
Blood Group Antigens
Neoplasm Proteins