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

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Abstract

The high-incidence erythrocyte blood group antigen Jra has been known in transfusion medicine for over 40 years. To identify the gene encoding Jra, 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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Acknowledgements

We would like to thank K. McManus for preparing Supplementary Figure 1. The authors are grateful to B. Triggs-Raine, S. Israels and K. McManus for critically reading the manuscript. The study was supported by an operating grant from The Winnipeg Rh Institute Foundation (to T.Z.).

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Authors

Contributions

T.Z., G.C. and M.E.R. designed the project, conducted the experiments and analyzed the data. X.-Q.L. provided supplementary analysis of the SNP data. All authors contributed to the final manuscript.

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Correspondence to Teresa Zelinski.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Text and Figures

Supplementary Methods, Supplementary Tables 1 and 2 and Supplementary Figure 1 (PDF 687 kb)

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Zelinski, T., Coghlan, G., Liu, XQ. et al. ABCG2 null alleles define the Jr(a−) blood group phenotype. Nat Genet 44, 131–132 (2012). https://doi.org/10.1038/ng.1075

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