The JR blood group system (ISBT 032): molecular characterization of three new null alleles

Authors

  • Kim Hue-Roye,

    1. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    2. Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York
    3. Rh Laboratory, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
    4. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • Christine Lomas-Francis,

    1. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    2. Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York
    3. Rh Laboratory, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
    4. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • Gail Coghlan,

    1. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    2. Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York
    3. Rh Laboratory, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
    4. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • Teresa Zelinski,

    1. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    2. Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York
    3. Rh Laboratory, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
    4. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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  • Marion E. Reid

    Corresponding author
    1. Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York
    2. Rh Laboratory, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
    3. Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
    • Laboratory of Immunochemistry, New York Blood Center, New York, New York
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  • Part of this study was funded by a research grant from The Winnipeg Rh Institute Foundation (to TZ).

Address reprint requests to: Marion E. Reid, PhD, Laboratory of Immunochemistry, New York Blood Center, 310 East 67th Street, New York, NY 10065; e-mail: mreid@nybloodcenter.org.

Abstract

Background

Jra (ISBT 901005) is a high-prevalence antigen unassigned to a blood group system. People lacking this antigen have been found in all populations studied but most commonly in Asians. Two recent reports established that ABCG2-null alleles encode the Jr(a–) phenotype and these studies provided the impetus to study other Jr(a−) individuals.

Study Design and Methods

Blood samples were part of our rare donor-patient collection. DNA was isolated and analyzed by standard techniques.

Results

In samples from 13 Jr(a–) study subjects, we found six alleles with nonsense nucleotide changes, three (c.784T, c.1591T, and c.337T) were novel. Twelve of the samples were homozygous for nonsense single-nucleotide polymorphisms (SNPs): eight were c.376T, two were c.706T, one was c.784T, and one was c.1591T. Each of these alleles predicts a truncated ABCG2 product, Gln126Stop, Arg236Stop, Gly262Stop, and Gln531Stop, respectively. One study subject was heterozygous for two nonsense SNPs: c.337C/T (Arg113Stop) and c.736C/T (Arg246Stop).

Conclusions

Jra is the sole antigen in the newly established JR blood group system (ISBT 032001). The previous ISBT designation (901005) is now obsolete. Since ABCG2null alleles define the Jr(a–) phenotype, an explanation for why no antithetical low-prevalence antigen to Jra has been found, and also why anti-Jra made by people with any of these JRnull alleles are mutually compatible has been determined. Based on our findings DNA-based genotyping can be developed to replace the serologic methods that are currently used to identify Jr(a–) blood donors.

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