The JR blood group system (ISBT 032): molecular characterization of three new null alleles. Issue 7 (15th October 2012)

• Record Type: Journal Article
• Authors: Hue‐Roye, Kim; Lomas‐Francis, Christine; Coghlan, Gail; Zelinski, Teresa; Reid, Marion E.
• Is Part Of: Transfusion. Volume 53:Issue 7(2013)
• Page Start: 1575
• Page End: 1579
• Publication Date: 2012-10-15
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/j.1537-2995.2012.03930.x
• Languages: English
• ISSNs: 0041-1132

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="trf3930-sec-0001" sec-type="section"> <title>Background</title> <p>Jr<sup>a</sup> (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 <italic>ABCG2</italic>‐null alleles encode the Jr(a–) phenotype and these studies provided the impetus to study other Jr(a−) individuals.</p> </sec> <sec id="trf3930-sec-0002" sec-type="section"> <title>Study Design and Methods</title> <p>Blood samples were part of our rare donor‐patient collection. DNA was isolated and analyzed by standard techniques.</p> </sec> <sec id="trf3930-sec-0003" sec-type="section"> <title>Results</title> <p>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).</p> </sec> <sec id="trf3930-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Jr<sup>a</sup> is the sole antigen in the newly established JR blood group system (ISBT 032001). The previous ISBT designation (901005) is now obsolete. Since <italic>ABCG2</italic><sub>null</sub> alleles define the Jr(a–) phenotype, an explanation for why no antithetical low‐prevalence antigen to Jr<sup>a</sup> has been found, and also why anti‐Jr<sup>a</sup> made by people with any of these JR<sub>null</sub> 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.</p> </sec> </abstract>