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Alleles of the LAN blood group system: molecular and serologic investigations
Author(s) -
Reid Marion E.,
HueRoye Kim,
Huang Angela,
Velliquette Randall W.,
Tani Yoshihiko,
Westhoff Connie M.,
LomasFrancis Christine,
Zelinski Teresa
Publication year - 2014
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12285
Subject(s) - allele , genetics , biology , amplicon , polymerase chain reaction , missense mutation , genomic dna , gene , microbiology and biotechnology , phenotype
Background Anti‐ L an has been implicated in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The LAN blood group system is encoded by ABCB6 , whose gene product, ABCB 6, 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 L an−, L an+ w /−, or L an+ w . Study Design and Methods Genomic DNA was extracted from blood samples recovered from liquid nitrogen storage. Intronic primers flanking each of the ABCB6 coding exons were used for polymerase chain reaction amplification. Amplicons were sequenced and analyzed by standard methods. Results Among the study subjects, we identified five alleles (one with a nonsense change, three with frameshifts, one with a missense change) that encode the L an− phenotype and four alleles (with missense changes) encoding either L an+ w or L an+ w /− phenotypes. Conclusions 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 ABCB6 alleles that encode L an− or L an+ w /−, or L an+ w phenotypes have been described.