title: A deletion in exon 3 results in a new HLA-A*01 null allele (A*0115N) in a Martinican woman.
abstract: We report the identification of a new HLA-A null allele, HLA-A*0115N. This null allele has been identified within the A*01 group by a combination of serological and molecular typing [Polymerase chain reaction (PCR) sequence-specific primers, PCR sequence-specific oligoprobes and sequence-based typing (SBT)] in a potential intrafamilial bone marrow donor from Martinique (French West Indies). To characterize this A*01 null allele, we performed DNA typing by PCR-SBT on genomic DNA from the beginning of exon 2 (position 84) through the end of the exon 4 (position 895) and revealed a nucleotide deletion at the end of the exon 3. This sole difference between the new allele and the HLA-A*0101 generates a premature stop codon (TGA) in the beginning of exon 4. This deletion most likely explains the lack of cell surface expression of the encoded protein despite the presence of A*01 allele. The absence of correct expression of the antigen on the cell surface was confirmed by one-dimensional isoelectric focusing (1D-IEF). To date, this is the fourth null allele described within the A*01 group.
authors.affiliation: Histocompatibility Laboratory, CHU de Fort-de-France, Martinique (FWI). odile.bera@chu-fortdefrance.fr
authors.forename: O
authors.initials: O
authors.lastname: Béra
authors.forename: V
authors.initials: V
authors.lastname: Dubois
authors.forename: A
authors.initials: A
authors.lastname: Assaqa
authors.forename: P
authors.initials: P
authors.lastname: Belon
authors.forename: I
authors.initials: I
authors.lastname: Favre-Victoire
authors.forename: L
authors.initials: L
authors.lastname: Gebuhrer
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005260:Female; D015234:HLA-A Antigens / Q000235:genetics*; D015788:HLA-A1 Antigen; D006801:Humans; D008395:Martinique; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D017384:Sequence Deletion
chemical_list: D015234:HLA-A Antigens; C509092:HLA-A*01:15N antigen; D015788:HLA-A1 Antigen