title: Identification of three novel alleles of HLA-DRB1 and HLA-A in the Brazilian population.
abstract: Two human leukocyte antigen (HLA)-DRB1 (HLA-DRB1*1376 and -DRB1*1465) and one HLA-A (HLA-A*2471) novel alleles have been identified in individuals from the Brazilian Bone Marrow Donor Registry. DNA sequencing of exon 2 for HLA-DRB1 alleles showed two and five nucleotide substitutions in -DRB1*1376 and -DRB1*1465, compared with closely related alleles, respectively. These substitutions result in a change of amino acid residues in HLA-DRB1*1376 at position 74 (Arg --> Glu) and in -DRB*1465 at positions 47 (Tyr --> Phe), 57 (Asp --> Ser) and 74 (Glu --> Ala). On the other hand, sequence analysis of exons 2 and 3 for HLA-A*2471 showed a single substitution, leading to a single amino acid change at position 151 (His --> Arg). These three novel alleles may have originated from other HLA alleles by gene conversion. However, it is also possible that HLA-A*2471 has evolved from one of the alleles of the HLA-A*2402 group through a point mutation.
authors.affiliation: Northern Ireland Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, UK. hesham.abdeen@bll.n-i.nhs.uk
authors.forename: H
authors.initials: H
authors.lastname: Abdeen
authors.forename: C
authors.initials: C
authors.lastname: McErlean
authors.forename: M E
authors.initials: ME
authors.lastname: Moraes
authors.forename: M
authors.initials: M
authors.lastname: Torres
authors.forename: S
authors.initials: S
authors.lastname: Campiotto
authors.forename: S
authors.initials: S
authors.lastname: Galvão
authors.forename: C
authors.initials: C
authors.lastname: Gouvea
authors.forename: D
authors.initials: D
authors.lastname: Middleton
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D001938:Brazil; D005091:Exons; D005260:Female; D005785:Gene Conversion; D015234:HLA-A Antigens / Q000235:genetics*; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D012042:Registries; D017386:Sequence Homology, Amino Acid; D014019:Tissue Donors
chemical_list: D015234:HLA-A Antigens; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains