title: Glycophorin A mutation Ala65 --> Pro gives rise to a novel pair of MNS alleles ENEP (MNS39) and HAG (MNS41) and altered Wrb expression: direct evidence for GPA/band 3 interaction necessary for normal Wrb expression.
abstract: We report here a novel Glycophorin A (GPA) mutation Ala65 --> Pro which gives rise to a low-incidence antigen HAG, lack of a high-incidence antigen ENEP and aberrant expression of the high-incidence Wrb antigen. Anti-ENEP was identified in the serum of a transfused male patient (E.H.) who was homozygous for a GPA Ala65 --> Pro mutation and possessed a novel low-incidence antigen which we have called HAG. An unrelated HAG-positive individual, heterozygous for the Ala65 --> Pro mutation, has also been identified. Anti-HAG was present in several multispecific antisera to low-incidence antigens and in one monospecific serum. Normal expression of the Wrb antigen depends on the presence of amino acid Glu658 of band 3 and on the presence of GPA. However, a specific epitope on GPA has not previously been implicated. DNA sequence analysis of band 3 from patient E.H. was normal in the region of Wra/Wrb polymorphism with homozygous presence of Glu658 and therefore the abnormal Wrb expression results from the Ala65 --> Pro mutation in GPA. The ENEP and HAG antigens have been assigned the MNS blood group system numbers 002.039 and 002.041, respectively, by the ISBT Working Party on Terminology for Red Cell Surface Antigens.
authors.affiliation: International Blood Group Reference Laboratory, Bristol, UK. joyce.pool@nbs.nhs.uk
authors.forename: J
authors.initials: J
authors.lastname: Poole
authors.forename: J
authors.initials: J
authors.lastname: Banks
authors.forename: L J
authors.initials: LJ
authors.lastname: Bruce
authors.forename: S M
authors.initials: SM
authors.lastname: Ring
authors.forename: C
authors.initials: C
authors.lastname: Levene
authors.forename: H
authors.initials: H
authors.lastname: Stern
authors.forename: M A
authors.initials: MA
authors.lastname: Overbeeke
authors.forename: M J
authors.initials: MJ
authors.lastname: Tanner
mesh_terms: D000409:Alanine / Q000235:genetics*; D000483:Alleles; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics; D000941:Antigens / Q000097:blood / Q000276:immunology; D003298:Coombs Test; D004910:Erythrocyte Membrane / Q000276:immunology; D006021:Glycophorins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008951:MNSs Blood-Group System / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011392:Proline / Q000235:genetics*; D017433:Protein Structure, Secondary; D017422:Sequence Analysis, DNA
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D000941:Antigens; D006021:Glycophorins; D008951:MNSs Blood-Group System; D011392:Proline; D000409:Alanine