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

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

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  • 1Rh Laboratory, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Canada.


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.

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