RESUMO
In this report, we describe the identification and sequencing of a novel HLA-DPB1 allele, found in an Italian haematological patient. This allele is identical to DPB1*17:01 except for a single nucleotide substitution (GACâGAG) at position 57, which changes the encoded amino acid from Asp to Glu.
Assuntos
Alelos , Cadeias beta de HLA-DP/genética , População Branca/genética , Sequência de Bases , Cadeias beta de HLA-DP/química , Humanos , Itália , Dados de Sequência Molecular , Alinhamento de SequênciaRESUMO
The novel allele human leukocyte antigen(HLA)-DQB1*06:04:04 differs from HLA-DQB1*06:04:01 by a silent nucleotide substitution at codon 75 (TTG â CTG).
Assuntos
Alelos , Cadeias beta de HLA-DQ/genética , Sequência de Bases , Éxons/genética , Humanos , Dados de Sequência Molecular , Alinhamento de SequênciaRESUMO
We describe a novel HLA-B*51 allele detected by DNA direct sequencing. The sequence of this allele has been officially named B*51:78 as a confirmatory sequence. This new allele nucleotide sequence differs from HLA-B*51:01:01 for two point mutations in exon 2 where codons 79-80 change from CGG-ATC to CGC-ACC (p.Ile80Thr).
Assuntos
Alelos , Antígenos HLA-B/genética , Células-Tronco Hematopoéticas , Doadores de Tecidos , Sequência de Bases , Éxons , Humanos , Dados de Sequência Molecular , MutaçãoRESUMO
Summary Here, we describe the characterisation of a new allelic variant of HLA-B*57. The novel allele, HLA-B*5728N, was identified with sequence-based typing in a Caucasoid family. HLA-B*5728N, differs from HLA-B*5701 because of a nucleotide substitution at position 420 (C->G) resulting in a coding change from Tyrosine to a stop codon.