title: HLA-DR51 expression failure caused by a two-base deletion at exon 2 of a DRB5 null allele (DRB5*0110N) in a Spanish gypsy family.
abstract: Here we describe a new HLA class II null allele at the DRB5 gene. Serologic HLA typing of a Spanish gypsy family rendered the following paternal haplotype: A2-Cblk-B52-Bw4-DR15-DQ5. However, DNA typing demonstrated the presence of a DRB5 gene in the haplotype DRB1*1502-DRB5*0102-DQB1*05031. Complete DRB5 cDNA sequencing revealed a DRB5*0102 allele with a deletion of two nucleotides at exon 2 (239-240) in codon 80. This change generates a frame shift leading to a stop codon at position 86, and could explain the lack of DR51 protein at the cell surface. This is the second DRB5 null allele described together with DRB5*0108N, raising the number of HLA alleles with an expression disorder.
authors.affiliation: Histocompatibility, Regional Transfusion Centre of Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Balas
authors.forename: P
authors.initials: P
authors.lastname: Ocon
authors.forename: J L
authors.initials: JL
authors.lastname: Vicario
authors.forename: A
authors.initials: A
authors.lastname: Alonso
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005192:Family Health; D017353:Gene Deletion; D015870:Gene Expression / Q000276:immunology; D006684:HLA-DR Antigens / Q000235:genetics*; D059847:HLA-DRB5 Chains; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D006178:Romani People / Q000235:genetics*; D013030:Spain
chemical_list: D006684:HLA-DR Antigens; D059847:HLA-DRB5 Chains