ABSTRACT
We describe a new HLA-A*02 allele, identified in a cord blood unit and in her mother. Nucleotide sequence analysis showed the presence of a new HLA-A*02 allele identical to HLA-A*02010101 except for a non-synonymous nucleotide exchange in exon 4 modifying codon 232 from GAG (Glu) to GAC (Asp). No other human leucocyte antigen class I allele sequenced so far shows this triplet at codon 232. The amino acid exchange affects a position that is part of the membrane proximal domain of class I major histocompatibility complex (MHC), designated alpha 3, and involved in the interaction with CD8 molecule. Using molecular modelling approach, the interactions between different subunits of the native and mutated forms of MHC-I resulted in relevant changes.
Subject(s)
Alleles , Fetal Blood/metabolism , Genes, MHC Class I , HLA-A Antigens/genetics , Mutation , Base Sequence , Codon , Female , HLA Antigens , Humans , Infant, Newborn , Models, Genetic , Models, Molecular , Molecular Sequence Data , Polymorphism, GeneticABSTRACT
A new HLA-DRB5 allele, HLA-DRB5*0113, has been identified in an Italian patient during routine HLA typing in order to activate a bone marrow donor search. HLA typing was performed by different molecular biology techniques, and the results showed that the HLA-DRB5*0113 allele differs from HLA-DRB5*010101 allele for three nucleotide substitutions at codons 57 (GAC-->GAT; Asp) and 58 (GCT-->GAG; Ala-->Glu) of exon 2.
Subject(s)
Bone Marrow Transplantation/immunology , HLA-DR Antigens/genetics , Histocompatibility Testing/methods , Alanine/chemistry , Alanine/genetics , Alleles , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Glutamic Acid/chemistry , Glutamic Acid/genetics , HLA-DRB5 Chains , Humans , Male , Middle Aged , Molecular Sequence Data , MutationABSTRACT
Abstract A new human leucocyte antigen (HLA)-DRB1 allele, HLA-DRB1*1149, has been identified in three members of an Italian family during routine sequence based typing. This new allele differs from HLA-DRB1*110101 only for a single nucleotide substitution at position 113 of exon 2 resulting in an amino acid change from Valine (GTG) to Alanine (GCG) at codon 38.
