RESUMEN
We report the identification of a novel B*40 allele, officially named B*400204, found in a Martinican prospective bone marrow donor by means of sequence-based typing techniques. This novel allele differs from the B*400201 allele by a synonymous nucleotide exchange at codon 31 in exon 2 (ACG --> ACC).
Asunto(s)
Antígenos HLA-B/genética , Mutación/genética , Análisis de Secuencia de ADN , Secuencia de Bases , Antígenos HLA-B/sangre , Antígeno HLA-B40 , Humanos , Martinica , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Homología de Secuencia de Ácido NucleicoRESUMEN
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.