title: Intergenic recombination with HLA-C leads to a novel HLA-A*19 allele, HLA-A*2910, that is characterized by a functionally inactive amino acid exchange in the loop connecting the alpha and alpha domains.
abstract: This report describes the HLA-A*29 allele (A*2910) that has been identified by sequence-based typing in an 8-year-old Turkish female with leukaemia during search for a family-related stem cell donor. The allele is characterized by a nucleotide substitution (Guanine to Adenine) in exon 3 at position 258, leading to an amino acid exchange from glutamic acid to lysine at position 177. From family analysis and sequence comparison, the HLA-A*2910 allele has arisen from intergenic recombination with HLA-C. Structurally, the amino acid exchange at position 177 is probably functionally inactive due to the location of this amino acid exchange in the loop connecting the alpha(2) and alpha(3) domains.
authors.affiliation: Department of Transplantation Immunology and Immunogenetics, Institute of Transfusion Medicine and Immunohematology, Red Cross Blood Donor Service, Baden-Württemberg - Hessen, Frankfurt am Main, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Mosebach
authors.forename: V
authors.initials: V
authors.lastname: Brixner
authors.forename: P
authors.initials: P
authors.lastname: Bader
authors.forename: T H
authors.initials: TH
authors.lastname: Klingebiel
authors.forename: E
authors.initials: E
authors.lastname: Seifried
authors.forename: C
authors.initials: C
authors.lastname: Seidl
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D015234:HLA-A Antigens / Q000235:genetics*; D015236:HLA-C Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D011995:Recombination, Genetic; D014421:Turkey
chemical_list: D015234:HLA-A Antigens; C509093:HLA-A*29:10 antigen; C043205:HLA-A19 antigen; D015236:HLA-C Antigens