Alleles of the LAN blood group system: molecular and serologic investigations. Issue 2 (13th June 2013)

• Record Type: Journal Article
• Authors: Reid, Marion E.; Hue‐Roye, Kim; Huang, Angela; Velliquette, Randall W.; Tani, Yoshihiko; Westhoff, Connie M.; Lomas‐Francis, Christine; Zelinski, Teresa
• Is Part Of: Transfusion. Volume 54:Issue 2(2014)
• Page Start: 398
• Page End: 404
• Publication Date: 2013-06-13
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/trf.12285
• Languages: English
• ISSNs: 0041-1132

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="trf12285-sec-0001" sec-type="section"> <title>Background</title> <p>Anti‐Lan has been implicated in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The LAN blood group system is encoded by <italic>ABCB6</italic>, whose gene product, ABCB6, belongs to the ATP‐binding cassette (ABC) efflux transporter superfamily. The purpose of this study was to characterize additional alleles by analyzing DNA from 14 (13 unrelated) subjects whose red blood cells were serologically defined as Lan−, Lan+<sup>w</sup>/−, or Lan+<sup>w</sup>.</p> </sec> <sec id="trf12285-sec-0002" sec-type="section"> <title>Study Design and Methods</title> <p>Genomic DNA was extracted from blood samples recovered from liquid nitrogen storage. Intronic primers flanking each of the <italic>ABCB6</italic> coding exons were used for polymerase chain reaction amplification. Amplicons were sequenced and analyzed by standard methods.</p> </sec> <sec id="trf12285-sec-0003" sec-type="section"> <title>Results</title> <p>Among the study subjects, we identified five alleles (one with a nonsense change, three with frameshifts, one with a missense change) that encode the Lan− phenotype and four alleles (with missense changes) encoding either Lan+<sup>w</sup> or Lan+<sup>w</sup>/− phenotypes.</p> </sec> <sec id="trf12285-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Of the nine alleles we identified, three were novel and six were previously documented in the dbSNP. Of these six, only one allele was previously associated with Lan negativity. To date, 19 <italic>ABCB6</italic> alleles that encode Lan− or Lan+<sup>w</sup>/−, or Lan+<sup>w</sup> phenotypes have been described.</p> </sec> </abstract>