RESUMO
Two different single nucleotide substitutions in intron 2 give rise to novel HLA-DQB1*03:02:01 alleles.
Assuntos
Alelos , Cadeias beta de HLA-DQ , Íntrons , Humanos , Teste de Histocompatibilidade , Cadeias beta de HLA-DQ/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Two nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-B*35:01:01:39 and -B*35:03:01:32.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Íntrons , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Three nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-DQB1*03:01:01:54, -DQB1*03:01:01:56, -DQB1*03:01:01:58.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , ÍntronsRESUMO
HLA-DPA1*02:01:25 differs from DPA1*02:01:01:02 by a synonymous transition in exon 2.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Éxons/genéticaRESUMO
Seven different single nucleotide substitutions in non-coding regions gave rise to novel HLA-DPA1*01:03:01 variants.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Teste de HistocompatibilidadeRESUMO
Characterization by next-generation sequencing of four novel HLA alleles: C*17:03:01:07, C*16:01:01:39, B*15:17:01:07, and B*44:03:01:57.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Nucleotídeos , Humanos , Regiões 3' não Traduzidas , AlelosRESUMO
HLA-DQA1*05:71, the first HLA-DQA1 allele with Aspartic Acid at residue 208 in the transmembrane domain.
Assuntos
Ácido Aspártico , Humanos , Ácido Aspártico/genética , Alelos , Análise de Sequência de DNA , Cadeias alfa de HLA-DQ/genéticaRESUMO
The novel HLA-DQB1*03:02:01:14 was likely generated by a recombination event between DQB1*03:02:01:01 and DQB1*03:03:02:01.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Recombinação Genética , Humanos , Alelos , Cadeias beta de HLA-DQ/genéticaRESUMO
Two transitions in intronic regions give rise to the novel alleles: HLA-DQB1*05:02:01:13 and HLA-DQB1*05:02:01:14.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , ÍntronsRESUMO
A missense nucleotide substitution in codon -17 in the leader peptide results in the novel HLA-DRB1*04:354 allele.
Assuntos
Nucleotídeos , Valina , Humanos , Cadeias HLA-DRB1/genética , Alelos , Valina/genética , Éxons/genéticaRESUMO
The failure to identify HLA null alleles in bone marrow transplantation could be life-threatening because this could result in an HLA mismatch with the ability to trigger the graft-vs-host disease (GVHD) and to reduce patient's survival. In this report we describe the identification and characterization of the novel HLA-DPA1*02:66:02N allele with a non-sense codon in exon 2. This new allele was discovered in two unrelated bone marrow donors during routine HLA-typing using next-generation sequencing (NGS). DPA1*02:66:02N is homologous to DPA1*02:01:01:03 with a single nucleotide difference in exon 2, codon 50, where the replacement of C located at genomic position 3825 by T, causes the formation of a premature stop codon (TGA), resulting in a null allele. This description illustrates the benefits of HLA typing by NGS since it permits to reduce ambiguities, identify new alleles, analyze multiple HLA loci and improve transplantation outcome.
Assuntos
Códon sem Sentido , Cadeias alfa de HLA-DP , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Éxons/genética , Códon , Teste de Histocompatibilidade/métodosRESUMO
A synonymous substitution in exon 2 and intronic insertion results in the novel HLA-DQA1*01:04:07 allele.
Assuntos
Antígenos HLA-DQ , Humanos , Antígenos HLA-DQ/genética , Alelos , Cadeias alfa de HLA-DQ/genética , ÉxonsRESUMO
A nonsynonymous nucleotide substitution in exon 1 results in the novel HLA-DQB1*03:493 allele.
Assuntos
Ácido Glutâmico , Sinais Direcionadores de Proteínas , Humanos , Alelos , Ácido Glutâmico/genética , Sequência de Bases , Cadeias beta de HLA-DQ/genéticaRESUMO
The novel HLA class I allele, HLA-B*49:78, was detected in a Spanish Caucasian individual.
