RESUMO
We report here two novel HLA-B alleles, B*46:13:03 and B*15:189, discovered in two Taiwanese volunteer bone marrow donors. The sequence of B*15:189 has a nucleotide sequence possibly derived from a recombination event between HLA-B*39:01:01 and B*15:01:01:01, while the origin of the sequence B*46:13:03 was less obvious to postulate, considering the low frequency of B*46:13 in the general population and the silent mutations involved. Our report here adds further HLA polymorphism to the growing lists of HLA-B*46 and HLA-B*15 and provides an additional HLA information for donor search programme for patients undergoing transplant.
Assuntos
Alelos , Medula Óssea/imunologia , Antígenos HLA-B/genética , Teste de Histocompatibilidade/métodos , Doadores de Tecidos , Sequência de Bases , Éxons/genética , Humanos , Dados de Sequência Molecular , Mutação/genética , TaiwanRESUMO
We report here an HLA-A allele, A*11:90, found in a Taiwanese cord blood sample using DNA sequence-based typing (SBT) protocol after observing an anomalous reaction pattern in a sequence-specific oligonucleotide (SSO) typing exercise. The sequence of A*11:90 is identical to A*11:01:01, the most predominant A*11 variant in Taiwanese, in exon 2 but differs from A*11:01:01 in exon 3 by two nucleotide substitutions at codon 163 (c.487C>G and c.488G>A), resulting R163E. In comparison with the sequence of A*11:02:01, the second most predominant subtype of A*11 in Taiwanese A*11:90 has one nucleotide difference at codon 19 (c.55A>G) in exon 2 resulting K19E and two nucleotides variations at codon 163 (c.487C>G and c.488G>A) in exon 3 resulting R163E. HLA-A*11:90-B*40:02-DRB1*11:01 is the deduced probable HLA haplotype in association with A*11:90. The generation of A*11:90 is thought to involve a DNA recombination event between alleles A*11:01:01 and A*80:01 where A*80:01 donated a fragment of the DNA sequence (from n.t. 487 to n.t. 497) to the recipient sequence of A*11:01:01.
Assuntos
Alelos , Povo Asiático/genética , Sangue Fetal/imunologia , Estudos de Associação Genética , Antígenos HLA-A/genética , Haplótipos/genética , Sequência de Aminoácidos , Sequência de Bases , Sangue Fetal/metabolismo , Antígenos HLA-A/química , Teste de Histocompatibilidade , Humanos , Dados de Sequência Molecular , Homologia de Sequência de Aminoácidos , TaiwanRESUMO
We here report detection of a novel sequence of HLA-A*31:30 and a confirmatory sequence of HLA*26:20 from two Taiwanese individuals. The sequence of A*31:30 is identical to that of A*31:01:02 in exons 2 and 3, except one nucleotide (n.t.) substitution c.539T > G resulting in p.Leu180Trp. The sequence of A*26:20 is identical to A*26:01:01 in exons 2 and 3, except a segment of the sequence from n.t. 78 to n.t.102. The mismatched sequence segment is identical to a sequence segment of A*02:03:01, suggesting that the formation of A*26:20 was resulted from a DNA recombination event between A*26:01:01 and A*02:03:01 sequences. A*26:20 differs from A*26:01:01 with c.98A > T resulting in p.Tyr33Phe.
Assuntos
Medula Óssea/imunologia , Antígenos HLA-A/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Sequência de Bases , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , TaiwanRESUMO
Using sequence-based typing method we discovered two new HLA-B*40 variants, B*40:137 and B*40:158, in Taiwanese individuals. The sequence of B*40:137 has three nucleotide (nt) changes from B*40:21 at nt 353 (CâT), nt 355 (CâA) and nt 369 (CâT) resulting two coding changes at residue 94 (TâI) and residue 95 (LâI), whereas the sequence of B*40:158 differs from B*40:01:01 with five nt substitutes at nt 463 (CâA), nt 477 (CâG), nt 499 (TâA), nt 512 (TâG) and nt 527 (TâA) causing five amino acid exchanges at codons 140 (YâS), 155 (RâS), 168 (SâT), 171 (LâW) and 179 (VâE). Our hypotheses on the generation of the two novel alleles are presented.
Assuntos
Alelos , Povo Asiático/genética , Antígenos HLA-B/genética , Substituição de Aminoácidos/genética , Sequência de Bases , Antígeno HLA-B40 , Haplótipos , Humanos , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único/genética , Alinhamento de SequênciaRESUMO
We report the identification and sequence analysis of a new HLA-A11* variant, A*11:60 allele, found in a Taiwanese leukaemic patient and his siblings. The novel A*11 variant is identical to A*11:03 in exon 2 but differs from A*11:03 in exon 3 by one nucleotide substitution at position 527 (AâT) causing an amino acid change at codon 152 E (Glu)âV (Val) (GAGâGTG). In comparison with HLA-A*11:01:01, allele A*11:60 has two nucleotide differences in exon 3: at nt 524 (AâG) (CATâCGT) and at nt 527 (CâT) (GCGâGTG) leading to two amino acid variations at residues 151 H (His)âR (Arg) and 152 A (Ala)âV (Val).
Assuntos
Alelos , Antígenos HLA-A/genética , Sequência de Aminoácidos , Sequência de Bases , Éxons/genética , Família , Antígenos HLA-A/imunologia , Humanos , Dados de Sequência Molecular , Homologia de Sequência , TaiwanRESUMO
We here report sequence confirmation and analysis of the variant HLA-DRB1*14:01:03 on three voluntary bone marrow donors and the conserved haplotype carrying DRB1*14:01:03 allele in Taiwanese population. In exon 2, the DNA sequence of DRB1*14:01:03 is identical to HLA-DRB1*14:01:01 except a silent nucleotide substitution at position 192. However, sequence specific primer (SSP) reaction pattern of DRB1*14:01:03 matched with the pattern of DRB1*14:54 instead of DRB1*14:01:01, 14:01:02 or 14:01:03. In exon 3, at position 421, DRB1*14:01:03 has an identical nucleotide as DRB1*14:54 but differs from DRB1*14:01:01. We think the discrepancy of the allele assignment by SSP typing protocol and by sequence-specific oligonucleotide probe (SSO) and sequence-based typing methods should be addressed. We assume DRB1*14:54 is probably the parental allele for DRB1*14:01:03.
