RESUMEN
Two different single nucleotide substitutions in intron 2 give rise to novel HLA-DQB1*03:02:01 alleles.
Asunto(s)
Alelos , Cadenas beta de HLA-DQ , Intrones , Humanos , Prueba de Histocompatibilidad , Cadenas beta de HLA-DQ/genética , Polimorfismo de Nucleótido SimpleRESUMEN
Two nucleotide substitutions in intronic regions give rise to the novel alleles: HLA-B*35:01:01:39 and -B*35:03:01:32.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Intrones , Secuenciación de Nucleótidos de Alto RendimientoRESUMEN
HLA-DPA1*02:01:25 differs from DPA1*02:01:01:02 by a synonymous transition in exon 2.
Asunto(s)
Cadenas alfa de HLA-DP , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas alfa de HLA-DP/genética , Exones/genéticaRESUMEN
Seven different single nucleotide substitutions in non-coding regions gave rise to novel HLA-DPA1*01:03:01 variants.
Asunto(s)
Cadenas alfa de HLA-DP , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas alfa de HLA-DP/genética , Prueba de HistocompatibilidadRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Nucleótidos , Humanos , Regiones no Traducidas 3' , AlelosRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , IntronesRESUMEN
HLA-DQA1*05:71, the first HLA-DQA1 allele with Aspartic Acid at residue 208 in the transmembrane domain.
Asunto(s)
Ácido Aspártico , Humanos , Ácido Aspártico/genética , Alelos , Análisis de Secuencia de ADN , Cadenas alfa de HLA-DQ/genéticaRESUMEN
Two transitions in intronic regions give rise to the novel alleles: HLA-DQB1*05:02:01:13 and HLA-DQB1*05:02:01:14.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , IntronesRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Recombinación Genética , Humanos , Alelos , Cadenas beta de HLA-DQ/genéticaRESUMEN
A missense nucleotide substitution in codon -17 in the leader peptide results in the novel HLA-DRB1*04:354 allele.
Asunto(s)
Nucleótidos , Valina , Humanos , Cadenas HLA-DRB1/genética , Alelos , Valina/genética , Exones/genéticaRESUMEN
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.
Asunto(s)
Codón sin Sentido , Cadenas alfa de HLA-DP , Humanos , Alelos , Cadenas alfa de HLA-DP/genética , Exones/genética , Codón , Prueba de Histocompatibilidad/métodosRESUMEN
A synonymous substitution in exon 2 and intronic insertion results in the novel HLA-DQA1*01:04:07 allele.
Asunto(s)
Antígenos HLA-DQ , Humanos , Antígenos HLA-DQ/genética , Alelos , Cadenas alfa de HLA-DQ/genética , ExonesRESUMEN
A nonsynonymous nucleotide substitution in exon 1 results in the novel HLA-DQB1*03:493 allele.
Asunto(s)
Ácido Glutámico , Señales de Clasificación de Proteína , Humanos , Alelos , Ácido Glutámico/genética , Secuencia de Bases , Cadenas beta de HLA-DQ/genéticaRESUMEN
The novel HLA class I allele, HLA-B*49:78, was detected in a Spanish Caucasian individual.
