RESUMO
Characterization of six novel HLA alleles by next-generation sequencing.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-A/genética , Cadeias HLA-DRB1/genéticaRESUMO
Three new HLA class I alleles were characterized by next generation sequencing.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Antígenos HLA-A/genética , HumanosRESUMO
A new HLA-B*39:168 was characterized in a Caucasian Spanish individual.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Alelos , Antígenos HLA-B/genética , Humanos , População BrancaRESUMO
Identification of four new HLA-DPB1 alleles, DPB1*02:01:57, *17:01:04, *1117:01, *1124:01.
Assuntos
Alelos , Sequência de Bases , Cadeias beta de HLA-DP/genética , HumanosRESUMO
The new B*40:462 allele was characterized in a Caucasian Spanish individual.
Assuntos
Genes MHC Classe I , Recombinação Genética , Alelos , Antígenos HLA-B/genética , Humanos , População BrancaRESUMO
Seven new HLA alleles were characterized by next generation sequencing in the Spanish population.
Assuntos
Antígenos HLA-A/genética , Antígeno HLA-A24/genética , Antígenos HLA-C/genética , Cadeias alfa de HLA-DQ/genética , Alelos , Estudos de Coortes , Frequência do Gene , Genética Populacional , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Polimorfismo Genético , Espanha/epidemiologiaRESUMO
In this report, we describe a case of somatic mutations in the two HLA-B genes in a patient with acute myelogenous leukemia. The HLA-B*15:01 allele showed an insertion of two nucleotides within exon 2 leading to a premature stop codon. HLA-B*40:01 showed one nucleotide substitution within exon 3, identical to that described for B*15:258N. The restriction of these mutations in leukemic cells was confirmed in patient's samples from buccal epithelial cells and hematopoietic cells obtained when the patient was in remission. The clinical significance of somatic HLA mutations in cancer seems to be associated with escape from immune surveillance and clonal evolution. The analysis of possible mutations in HLA genes of tumor cells would be valuable information for the outcome of the disease and stem cell donor selection.
Assuntos
Códon sem Sentido , Antígenos HLA-B/genética , Leucemia Mieloide Aguda/genética , Alelos , Éxons , Feminino , Perfilação da Expressão Gênica , Células-Tronco Hematopoéticas/metabolismo , Humanos , Cariotipagem , Perda de Heterozigosidade , Proteínas Nucleares/genética , Nucleofosmina , Dissomia Uniparental , Tirosina Quinase 3 Semelhante a fms/genéticaRESUMO
Three new HLA alleles, HLA-C*05:203, -C*15:10:04 and DRB1*01:99, were characterized in the Spanish population.
Assuntos
Alelos , Éxons , Antígenos HLA-C/genética , Mutação Puntual , Humanos , EspanhaRESUMO
The new HLA allele HLA-C*05:199 was detected and characterized in a Spanish family.
Assuntos
Alelos , Loci Gênicos , Antígenos HLA-C/genética , Recombinação Genética , Sequência de Bases , Éxons/genética , Genoma Humano , Haplótipos/genética , HumanosRESUMO
The new HLA alleles HLA-B*56:55:01:02, -C*03:374 and -DPB1*13:01:03 were characterized by NGS methodology.
