RESUMEN
Characterization of HLA-DQB1*06:472, -DQB1*06:02:01:34 and -DQB1*06:04:01:06 alleles in Spanish individuals.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genéticaRESUMEN
Characterization of HLA-B*40:01:02:61, -B*48:01:01:14, and -C*01:02:01:69 alleles in Spanish individuals.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Genómica , Secuenciación de Nucleótidos de Alto RendimientoRESUMEN
Genomic sequence of HLA-DPA1*01:03:01:73, -DPA1*01:03:01:80, DPA1*01:03:01:82, -DPA1*01:155:01:02, -DPA1*02:02:02:16 alleles in Spanish individuals.
Asunto(s)
Alelos , Cadenas alfa de HLA-DP , Humanos , Cadenas alfa de HLA-DP/genética , Exones , España , Prueba de Histocompatibilidad , Análisis de Secuencia de ADN , Secuencia de Bases , Alineación de SecuenciaRESUMEN
Characterisation of HLA-DQA1*01:02:01:30, HLA-DQA1*01:03:01:14, HLA-DQA1*03:03:01:20, HLA-DQA1*04:01:01:13, HLA-DQA1*05:05:01:40 alleles in Spanish individuals.
Asunto(s)
Alelos , Cadenas alfa de HLA-DQ , Humanos , Cadenas alfa de HLA-DQ/genética , Prueba de Histocompatibilidad , España , Análisis de Secuencia de ADN/métodos , Exones , Secuencia de BasesRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Cadenas beta de HLA-DQ/genética , MutaciónRESUMEN
Three novel HLA Class I alleles, -B*15:640, -B*18:01:01:71 and -C*05:275, characterized in Spanish individuals.
Asunto(s)
Antígenos HLA-B , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Antígenos HLA-B/genética , Genes MHC Clase I , Prueba de HistocompatibilidadRESUMEN
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.
Asunto(s)
Cadenas alfa de HLA-DP , Humanos , Alelos , Cadenas alfa de HLA-DP/genética , Cadenas beta de HLA-DQ/genética , Haplotipos , Cadenas alfa de HLA-DQ/genética , Frecuencia de los GenesRESUMEN
Three novel HLA Class I alleles, -A*02:1092, -A*29:01:01:11 and -B*44:03:01:58, characterized in Spanish individuals.
Asunto(s)
Antígenos HLA-A , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Antígenos HLA-A/genética , Antígenos HLA-B/genéticaRESUMEN
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.
Asunto(s)
Alelos , Humanos , Cadenas alfa de HLA-DQ/genéticaRESUMEN
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.
Asunto(s)
Cadenas alfa de HLA-DP , Secuenciación de Nucleótidos de Alto Rendimiento , Alelos , Cadenas alfa de HLA-DP/genética , Humanos , Intrones/genéticaRESUMEN
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.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Alelos , Cadenas beta de HLA-DQ/genética , Humanos , IntronesRESUMEN
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.
Asunto(s)
Antígenos de Histocompatibilidad Clase II , Alelos , Frecuencia de los Genes , Cadenas beta de HLA-DQ/genética , Haplotipos , Antígenos de Histocompatibilidad Clase II/genética , HumanosRESUMEN
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.
Asunto(s)
ARN , Alelos , ADN Complementario/genética , Cadenas beta de HLA-DQ/genética , HumanosRESUMEN
A single nucleotide substitution in exon 3 of HLA-DQB1*06:03:01 results in a new allele, HLA-DQB1*06:03:27.
Asunto(s)
Médula Ósea , Alelos , Cadenas beta de HLA-DQ/genética , Prueba de Histocompatibilidad , HumanosRESUMEN
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.
Asunto(s)
Antígenos HLA-A , Donantes de Tejidos , Alelos , Antígenos HLA-A/genética , Secuenciación de Nucleótidos de Alto Rendimiento , HumanosRESUMEN
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.
Asunto(s)
Antígenos HLA-B , Alelos , Frecuencia de los Genes , Antígenos HLA-B/genética , Cadenas beta de HLA-DP , Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , HumanosRESUMEN
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.
Asunto(s)
Antígenos HLA-A , Secuenciación de Nucleótidos de Alto Rendimiento , Alelos , Antígenos HLA-A/genética , HumanosRESUMEN
Three new HLA-B*08:254, -DQB1*02:172, and -DPB1*1101:01 alleles detected in Spanish individuals.