RESUMEN
Characterization of six novel HLA alleles by next-generation sequencing.
Asunto(s)
Antígenos HLA-A , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Antígenos HLA-A/genética , Cadenas HLA-DRB1/genéticaRESUMEN
Three new HLA class I alleles were characterized by next generation sequencing.
Asunto(s)
Antígenos HLA-A , Secuenciación de Nucleótidos de Alto Rendimiento , Alelos , Antígenos HLA-A/genética , HumanosRESUMEN
A new HLA-B*39:168 was characterized in a Caucasian Spanish individual.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Alelos , Antígenos HLA-B/genética , Humanos , Población BlancaRESUMEN
Identification of four new HLA-DPB1 alleles, DPB1*02:01:57, *17:01:04, *1117:01, *1124:01.
Asunto(s)
Alelos , Secuencia de Bases , Cadenas beta de HLA-DP/genética , HumanosRESUMEN
The new B*40:462 allele was characterized in a Caucasian Spanish individual.
Asunto(s)
Genes MHC Clase I , Recombinación Genética , Alelos , Antígenos HLA-B/genética , Humanos , Población BlancaRESUMEN
Seven new HLA alleles were characterized by next generation sequencing in the Spanish population.
Asunto(s)
Antígenos HLA-A/genética , Antígeno HLA-A24/genética , Antígenos HLA-C/genética , Cadenas alfa de HLA-DQ/genética , Alelos , Estudios de Cohortes , Frecuencia de los Genes , Genética de Población , Haplotipos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Polimorfismo Genético , España/epidemiologíaRESUMEN
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.
Asunto(s)
Codón sin Sentido , Antígenos HLA-B/genética , Leucemia Mieloide Aguda/genética , Alelos , Exones , Femenino , Perfilación de la Expresión Génica , Células Madre Hematopoyéticas/metabolismo , Humanos , Cariotipificación , Pérdida de Heterocigocidad , Proteínas Nucleares/genética , Nucleofosmina , Disomía Uniparental , Tirosina Quinasa 3 Similar a fms/genéticaRESUMEN
Three new HLA alleles, HLA-C*05:203, -C*15:10:04 and DRB1*01:99, were characterized in the Spanish population.
Asunto(s)
Alelos , Exones , Antígenos HLA-C/genética , Mutación Puntual , Humanos , EspañaRESUMEN
The new HLA allele HLA-C*05:199 was detected and characterized in a Spanish family.
Asunto(s)
Alelos , Sitios Genéticos , Antígenos HLA-C/genética , Recombinación Genética , Secuencia de Bases , Exones/genética , Genoma Humano , Haplotipos/genética , HumanosRESUMEN
The new HLA alleles HLA-B*56:55:01:02, -C*03:374 and -DPB1*13:01:03 were characterized by NGS methodology.