RESUMO
HLA-B*57:169 differs from HLA-B*57:01:01:12 by one nucleotide substitution at position 2512, codon 320 located in exon 6.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Éxons/genética , Antígenos HLA-B/genéticaRESUMO
HLA donor-specific antibodies (DSAs) pre and post transplant increase the risk of antibody-mediated rejection (AMR) and lead to poor graft survival. Increasing data exist to support the involvement of non-HLA antibodies in triggering an immunological response. The development of non-HLA antibodies specific for AT1R is associated with poor clinical outcomes in orthotopic heart transplant recipients. This case presents an investigation of non-HLA antibodies in a 56-year-old female heart transplant recipient diagnosed with AMR in the absence of DSAs.
Assuntos
Transplante de Coração , Transplante de Rim , Feminino , Humanos , Pessoa de Meia-Idade , Autoanticorpos , Antígenos HLA , Rejeição de Enxerto , Transplante de Coração/efeitos adversosRESUMO
Full-length sequence of HLA-DRB3*03:46 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Genômica , Humanos , Sequência de Bases , Cadeias HLA-DRB3/genética , Alelos , Teste de HistocompatibilidadeRESUMO
Full-length sequence of HLA-DPB1*04:02:01:40 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Sequenciamento por Nanoporos , Humanos , Alelos , Sequência de Bases , Tecnologia , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-DPA1*01:115 covers the 5'-untranslated region (UTR), all introns and exons and the 3'-UTR.
Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Análise de Sequência de DNARESUMO
Chimerism monitoring after allogenic Hematopoietic Cell Transplantation (allo-HCT) is critical to determine how well donor cells have engrafted and to detect relapse for early therapeutic intervention. The aim of this study was to establish and detect mixed chimerism and minimal residual disease using Next Generation Sequencing (NGS) testing for the evaluation of engraftment and the detection of early relapse after allo-HCT. Our secondary aim was to compare the data with the existing laboratory method based on Short Tandem Repeat (STR) analysis. One hundred and seventy-four DNA specimens from 46 individuals were assessed using a commercially available kit for NGS, AlloSeq HCT NGS (CareDx), and the STR-PCR assay. The sensitivity, precision, and quantitative accuracy of the assay were determined using artificially created chimeric constructs. The accuracy and linearity of the assays were evaluated in 46 post-transplant HCT samples consisting of 28 levels of mixed chimerism, which ranged from 0.3-99.7%. There was a 100% correlation between NGS and STR-PCR chimerism methods. In addition, 100% accuracy was attained for the two external proficiency testing surveys (ASHI EMO). The limit of detection or sensitivity of the NGS assay in artificially made chimerism mixtures was 0.3%. We conducted a review of all NGS chimerism studies published online, including ours, and concluded that NGS-based chimerism analysis using the AlloSeq HCT assay is a sensitive and accurate method for donor-recipient chimerism quantification and minimal residual disease relapse detection in patients after allo-HCT compared to STR-PCR assay.
Assuntos
Quimerismo , Transplante de Células-Tronco Hematopoéticas , Humanos , Neoplasia Residual/diagnóstico , Neoplasia Residual/genética , Sequenciamento de Nucleotídeos em Larga Escala , Recidiva Local de Neoplasia/genética , Doença Crônica , Quimeras de Transplante/genéticaRESUMO
HLA-DPA1*02:03:05 differs from HLA-DPA*02:03:04 by three nucleotide substitution located in exon 3.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Nucleotídeos , Humanos , Alelos , Éxons/genéticaRESUMO
HLA-A*32:172 differs from HLA-A*32:01:01:01 by one nucleotide substitution at position 1013, codon 314 located in exon 6.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Nucleotídeos , Humanos , Alelos , Éxons/genética , Antígenos HLA-A/genéticaRESUMO
HLA-DPA1*01:144 differs from HLA-DPA*01:03:01:04 by one nucleotide substitution at position 44, codon-17 located in exon 1.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Teste de Histocompatibilidade , CódonRESUMO
Full-length sequence of HLA-DQA1*02:19 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Sequência de Bases , Alelos , Cadeias alfa de HLA-DQ/genética , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Análise de Sequência de DNARESUMO
Full-length sequence covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Genômica , Humanos , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Alelos , Sequência de Bases , Cadeias HLA-DRB3/genética , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-C*05:01:72 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Antígenos HLA-C/genética , Sequência de Bases , Alelos , Éxons/genética , Íntrons , Análise de Sequência de DNARESUMO
HLA-DPA1*02:72 differs from HLA-DPA1*02:02:02:01 by one nucleotide substitution at position 4273, codon 86 located in exon 3.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Teste de Histocompatibilidade , Alinhamento de SequênciaRESUMO
Full-length sequence covers the 5'-untranslated region (UTR), all introns and exons, and the 3' UTR.
Assuntos
Genômica , Tecnologia , Regiões 3' não Traduzidas , Alelos , Sequência de Bases , Cadeias HLA-DRB3/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-DPA1*02:46 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Regiões 3' não Traduzidas , Alelos , Cadeias alfa de HLA-DP , Humanos , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-C*15:02:03 covers all introns and exons and the 3' UTR.
Assuntos
Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Genômica , Antígenos HLA-C/genética , Humanos , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-C*07:308 covers the 5'-untranslated region (UTR), all introns and exons and the 3' UTR.
Assuntos
Antígenos HLA-C , Sequenciamento de Nucleotídeos em Larga Escala , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Alelos , Sequência de Bases , Genômica , Antígenos HLA-C/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNARESUMO
Full-length sequence of HLA-DQB1*04:51 covers the 5'-untranslated region (UTR), all introns and exons and the 3'-UTR.
Assuntos
Cadeias beta de HLA-DQ , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Genômica , Cadeias beta de HLA-DQ/genética , HumanosRESUMO
A point mutation in Exon 1, 1-3 (ATG>ACG) causes a non-synonymous change to the start codon, which may affect expression.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Éxons/genética , Cadeias alfa de HLA-DP/genética , HumanosRESUMO
Real-time genome monitoring of the SARS-CoV-2 pandemic outbreak is of utmost importance for designing diagnostic tools, guiding antiviral treatment and vaccination strategies. In this study, we present an accurate method for temporal and geographical comparison of mutational events based on GISAID database genome sequencing. Among 42523 SARS-CoV-2 genomes analyzed, we found 23202 variants compared to the reference genome. The Ti/Tv (transition/transversion) ratio was used to filter out possible false-positive errors. Transition mutations generally occurred more frequently than transversions. Our clustering analysis revealed remarkable hotspot mutation patterns for SARS-CoV-2. Mutations were clustered based on how their frequencies changed over time according to each geographical location. We observed some clusters showing a clear variation in mutation frequency and continuously evolving in the world. However, many mutations appeared in specific periods without a clear pattern over time. Various important nonsynonymous mutations were observed, mainly in Oceania and Asia. More than half of these mutations were observed only once. Four hotspot mutations were found in all geographical locations at least once: T265I (NSP2), P314L (NSP12), D614G (S), and Q57H (ORF3a). The current analysis of SARS-CoV-2 genomes provides valuable information on the geographical and temporal mutational evolution of SARS-CoV-2.