RESUMO
Characterization of HLA-DQB1*02:02:01:18, -DQB1*02:02:01:19, -DQB1*03:02:01:20 and -DQB1*05:03:01:10 alleles in Spanish individuals.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , MutaçãoRESUMO
Characterization of HLA-B*40:01:02:61, -B*48:01:01:14, and -C*01:02:01:69 alleles in Spanish individuals.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Genômica , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Characterization of HLA-DQB1*06:472, -DQB1*06:02:01:34 and -DQB1*06:04:01:06 alleles in Spanish individuals.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genéticaRESUMO
Three novel HLA Class I alleles, -A*02:1092, -A*29:01:01:11 and -B*44:03:01:58, characterized in Spanish individuals.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-A/genética , Antígenos HLA-B/genéticaRESUMO
Four novel HLA Class II alleles, HLA-DPA1*01:03:01:68, -DPA1*01:03:01:71, -DQA1*02:01:01:06, and -DQB1*06:03:01:19, characterized in Spanish individuals.
Assuntos
Cadeias alfa de HLA-DP , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Cadeias beta de HLA-DQ/genética , Haplótipos , Cadeias alfa de HLA-DQ/genética , Frequência do GeneRESUMO
Four novel HLA-DQA1 alleles, -DQA1*01:01:02:04, -DQA1*01:04:01:05, -DQA1*03:03:01:19 and -DQA1*05:01:01:08, characterized in Spanish individuals.
Assuntos
Alelos , Humanos , Cadeias alfa de HLA-DQ/genéticaRESUMO
Three novel HLA Class I alleles, -B*15:640, -B*18:01:01:71 and -C*05:275, characterized in Spanish individuals.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-B/genética , Genes MHC Classe I , Teste de HistocompatibilidadeRESUMO
Four novel HLA-DPA1 alleles, -DPA1*01:03:01:59, -DPA1*01:03:01:60, -DPA1*02:01:01:30, and -DPA1*02:01:01:31, characterized in Spanish individuals.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Cadeias alfa de HLA-DP/genética , Humanos , Íntrons/genéticaRESUMO
Identification of the novel DQA1*03:31, DQB1*05:01:01:19, DPA1*02:01:01:20 and DPA1*02:01:01:28 alleles by NGS.
Assuntos
Antígenos de Histocompatibilidade Classe II , Alelos , Frequência do Gene , Cadeias beta de HLA-DQ/genética , Haplótipos , Antígenos de Histocompatibilidade Classe II/genética , HumanosRESUMO
The characterization of the expression profile of HLA questionable alleles (Q) is clinically relevant in allogeneic hematopoietic stem cell transplantation (HSTC) because an aberrant expression of these alleles could lead to transplantation-related complications. HLA-DQB1*03:01:01:21Q shows a substitution at the donor splice site of intron 3 that potentially could affect the expression of this allele. In order to determine their expression profile at RNA and protein level, we analyzed the presence of the HLA-DQ7 molecule by complement-dependent cytotoxicity test (CDC) and flow cytometry, and their RNA processing by cDNA analyses and sequencing by Sanger methods. Our results reveal that HLA-DQ7 is not detectable by serological methods, this is confirmed by cDNA methods demonstrating the absence of specific HLA-DQB1*03:01:01:21Q mRNA, probably due to an intron 3 retention that creates a premature TGA stop codon, leading to mRNA degradation via nonsense-mediated decay (NMD). These findings demonstrate that the HLA-DQB1*03:01:01:21Q allele is nonexpressed, thus it has been renamed as DQB1*03:01:01:21N.
Assuntos
RNA , Alelos , DNA Complementar/genética , Cadeias beta de HLA-DQ/genética , HumanosRESUMO
Four novel HLA-DQB1 alleles, -DQB1*02:02:01:08, -DQB1*02:01:01:11, -DQB1*03:01:01:30 and -DQB1*03:01:01:36, characterized in Spanish individuals.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Cadeias beta de HLA-DQ/genética , Humanos , ÍntronsRESUMO
Four novel HLA alleles, HLA-B*40:02:01:26, HLA-DQB1*03:01:01:29, HLA-DQB1*04:02:01:12 and HLA-DPB1*1195:01, detected in Spanish individuals.
Assuntos
Antígenos HLA-B , Alelos , Frequência do Gene , Antígenos HLA-B/genética , Cadeias beta de HLA-DP , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , HumanosRESUMO
A single nucleotide substitution in exon 3 of HLA-DQB1*06:03:01 results in a new allele, HLA-DQB1*06:03:27.
Assuntos
Medula Óssea , Alelos , Cadeias beta de HLA-DQ/genética , Teste de Histocompatibilidade , HumanosRESUMO
Four novel HLA class I alleles, -A*01:01:01:76, -B*15:03:12, -B*49:01:01:14, and -C*04:01:01:115, detected in Spanish individuals.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Antígenos HLA-A/genética , HumanosRESUMO
Three novel HLA class I alleles, HLA-A*03:01:93, -C*07:18:08, and -C*03:03:01:41, detected in Spanish individuals.
Assuntos
Antígenos HLA-A , Doadores de Tecidos , Alelos , Antígenos HLA-A/genética , Sequenciamento de Nucleotídeos em Larga Escala , HumanosRESUMO
Three new HLA-B*08:254, -DQB1*02:172, and -DPB1*1101:01 alleles detected in Spanish individuals.
