Novel single-nucleotide change in GYP*A in a person who made an alloantibody to a new high-prevalence MNS antigen called ENEV.

摘要

BACKGROUND: Alloantibodies that define some high-prevalence MNS antigens are made by people with glycophorin A (GPA) altered by a single-amino-acid change or replacement of amino acids from part of the Pseudoexon 3 of GYP*B. The finding of a patient whose plasma contained a novel alloanti-En(a)FR prompted this study. RESULTS: The patient's serum contained an alloantibody to a high-prevalence antigen, resistant to papain, ficin, trypsin, alpha-chymotrypsin, or dithiothreitol. The antibody was strongly reactive with all panel red blood cells (RBCs) tested, showed reduced reactivity with ENEP- and ENAV- RBCs, and was nonreactive with M(k)M(k), En(a-), GP.Hil/GP.Hil, and GP.JL/M(k) RBCs. The patient's RBCs typed M+N-S+s-, Wr(a-b+(w)), ENEP-, and ENAV-. These results indicated that the antibody recognized a new high-prevalence antigen in the MNS system. Sequencing of DNA prepared from the patient's white blood cells revealed a GYP*A nucleotide substitution of 242T>G (predicted to change Val62 of GPA to Gly). This change ablates an RsaI restriction enzyme site and polymerase chain reaction-restriction fragment length polymorphism confirmed that the proband was homozygous for Nucleotide 242G. CONCLUSIONS: We describe a novel high-prevalence MNS antigen, characterized by Val62 in GPA and named ENEV. The absence of the antigen is associated with Gly62. The change explains the weakened reactivity of the patient's serum with ENEP- and ENAV- RBCs and nonreactivity with anti-ENEP and anti-ENAV against her RBCs. The ENEV antigen has been assigned the ISBT number MNS45.