RESUMEN
A total of 43 novel HLA alleles detected in haematopoietic cell donors using single molecule real-time DNA sequencing.
Asunto(s)
Alelos , Antígenos HLA , Prueba de Histocompatibilidad , Donantes de Tejidos , Humanos , Antígenos HLA/genética , Prueba de Histocompatibilidad/métodos , Análisis de Secuencia de ADN/métodos , Trasplante de Células Madre Hematopoyéticas , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Células Madre Hematopoyéticas/metabolismoRESUMEN
The novel HLA-DPB1*14:01:15 allele differs from DPB1*14:01:01:01 by change of C > T in exon 3.
Asunto(s)
Alelos , Secuencia de Bases , Exones , Cadenas beta de HLA-DP , Prueba de Histocompatibilidad , Donantes de Tejidos , Humanos , Cadenas beta de HLA-DP/genética , Brasil , Análisis de Secuencia de ADN/métodos , Médula Ósea , Alineación de Secuencia , Codón , Trasplante de Médula ÓseaRESUMEN
Two novel HLA-DQB1 alleles, HLA-DQB1*05:01:50 and HLA-DQB1*06:486, characterised in bone marrow volunteers.
Asunto(s)
Alelos , Exones , Cadenas beta de HLA-DQ , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Cadenas beta de HLA-DQ/genética , Prueba de Histocompatibilidad/métodos , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Codón , Médula ÓseaRESUMEN
HLA-C*02 246 has one nucleotide change from HLA-C*02:02:02:01 at nucleotide 523 changing Arginine to Cysteine at residue 151.
Asunto(s)
Alelos , Secuencia de Bases , Exones , Antígenos HLA-C , Prueba de Histocompatibilidad , Humanos , Antígenos HLA-C/genética , Análisis de Secuencia de ADN/métodos , Alineación de Secuencia , Sustitución de Aminoácidos , CodónRESUMEN
HLA-C*04:01:01:182 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the 5'UTR.
Asunto(s)
Alelos , Antígenos HLA-C , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Donantes de Tejidos , Humanos , Antígenos HLA-C/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Regiones no Traducidas 5' , Exones , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Médula Ósea , Polimorfismo de Nucleótido Simple , Trasplante de Médula ÓseaRESUMEN
Characterisation of the novel HLA-C*14:02:01:31 allele in a 21-year-old Greek bone marrow donor.
Asunto(s)
Alelos , Exones , Antígenos HLA-C , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Donantes de Tejidos , Humanos , Antígenos HLA-C/genética , Adulto Joven , Trasplante de Médula Ósea , Médula Ósea , Secuencia de Bases , Polimorfismo de Nucleótido Simple , CodónRESUMEN
HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.
Asunto(s)
Médula Ósea , Genes MHC Clase I , Humanos , Alelos , Grecia , Antígenos HLA-B/genéticaRESUMEN
HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.
Asunto(s)
Médula Ósea , Antígenos HLA-A , Humanos , Alelos , Grecia , Regiones no Traducidas 5' , Antígenos HLA-A/genéticaRESUMEN
Two novel alleles, HLA-G*01:04:09 and HLA-DPB1*04:01:01:136, were identified in a single healthy individual.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-G , Humanos , Alelos , Cadenas beta de HLA-DP/genéticaRESUMEN
HLA-A*68:190:02 differs from A*68:190:01 by a single synonymous nucleotide change in exon 2.
Asunto(s)
Médula Ósea , Humanos , Alelos , Brasil , Exones/genéticaRESUMEN
Two novel non-classical HLA class I alleles have been characterized, HLA-F*01:16 and -F*01:17.
Asunto(s)
Genes MHC Clase I , Donantes de Tejidos , Humanos , AlelosRESUMEN
HLA-B*48:58 differs from HLA-B*48:01:01 by one nucleotide substitution in codon 17 in exon 2.
RESUMEN
The HLA-B*35:02:21 allele differs from HLA-B*35:02:01:01 in codon 183 in exon 4.
Asunto(s)
Médula Ósea , Antígenos HLA-B , Humanos , Secuencia de Bases , Alelos , Antígenos HLA-B/genética , Voluntarios , Donantes de Tejidos , Prueba de HistocompatibilidadRESUMEN
Characterization of the novel HLA-A*01:426 allele in a 21-year-old Greek male bone marrow donor.
Asunto(s)
Trasplante de Médula Ósea , Médula Ósea , Humanos , Masculino , Adulto Joven , Adulto , Alelos , Grecia , Prueba de Histocompatibilidad , Donantes de Tejidos , Antígenos HLA-A/genética , Secuenciación de Nucleótidos de Alto RendimientoRESUMEN
Characterization of the novel HLA-DPB1*02:01:68 allele in a 27-year-old Greek hematopoietic stem cell transplant candidate.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Humanos , Adulto , Alelos , Grecia , Cadenas beta de HLA-DP/genéticaRESUMEN
HLA-DPB1*05:01:19 differs from DPB1*05:01:01 by one nucleotide in codon 62 in exon 2.
Asunto(s)
Médula Ósea , Cadenas beta de HLA-DP , Donantes de Tejidos , Humanos , Alelos , Secuencia de Bases , Pueblos del Este de Asia/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Cadenas beta de HLA-DP/genéticaRESUMEN
The full-length sequence of HLA-B*13:177, HLA-C*06:02:104 and HLA-C*07:1062N are reported.
Asunto(s)
Médula Ósea , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Alelos , Antígenos HLA-B/genética , Genómica , Donantes de TejidosRESUMEN
HLA genes play a major role for successful hematopoietic stem cell transplantation (HSCT). While the success of HSCT depends on a HLA compatibility between donor and patient, finding a suitable donor remains challenging because of the high polymorphic nature of HLA genes. In this study, HLA-A, -B, -C, -DRB1 and -DQB1 alleles were genotyped at the 3-fields resolution level using MiSeq Illumina of 3341 Russian volunteers from the Kirov bone marrow Registry. Full gene of HLA-A, -B and -C, exons 2-4 of HLA-DRB1 and exons 1-5 of HLA-DQB1 were amplified by multiplex long-range polymerase chain reaction (PCR) and each allele was determined by matching the targeted regions and the reference sequence consisting of the IPD-IMGT/HLA Database. A total of 79 alleles of HLA-A, 115 alleles of HLA-B, 67 alleles of HLA-C, 71 alleles of HLA-DRB1 and 34 alleles of HLA-DQB1 were identified. According to common, intermediate and well-documented catalogs, 38 alleles in HLA-A, 69 in HLA-B, 39 in HLA-C, 48 in HLA-DRB1 and 21 in HLA-DQB1 locus were common alleles, and 5, 7, 7, 7, 2 kinds, accordingly, to written above were well-documented alleles. A total of 12 novel alleles including 3 alleles in HLA-A, 3 alleles in HLA-B, 1 allele in HLA-C, 2 alleles in HLA-DRB1 and 3 alleles in HLA-DQB1 loci were found. Six haplotypes with a frequency of more than 1.0% accounted for 13.19% of the total haplotype frequencies. This information on rare and novel alleles found by HLA typing with NGS may be helpful for unrelated HSCT among Russians.
Asunto(s)
Antígenos HLA-C , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Alelos , Antígenos HLA-C/genética , Cadenas HLA-DRB1/genética , Frecuencia de los Genes , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Haplotipos , Cadenas beta de HLA-DQ/genética , VoluntariosRESUMEN
One nucleotide substitution in pseudoexon 5 of HLA-DQB1*05:02:01:01 results in a novel allele, HLA-DQB1*05:02:01:15.
Asunto(s)
Médula Ósea , Donantes de Tejidos , Humanos , Alelos , Cadenas beta de HLA-DQ/genéticaRESUMEN
HLA-DQB1*02:02:23 differs from HLA-DQB1*02:02:01:01 by one synonymous nucleotide substitution at codon -6 in exon 1.