RESUMO
The novel HLA alleles B*40:331, B*40:343, B*42:24, DRB1*01:74, DQB1*03:243, and DQB1*03:02:20 were identified in Brazilian individuals.
Assuntos
Alelos , Antígenos HLA-B/genética , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Sequência de Bases , Brasil , Éxons/genética , Feminino , Teste de Histocompatibilidade , Humanos , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
The novel KIR2DL1*037 allele discovered and characterised by single molecule real-time (SMRT) DNA sequencing.
Assuntos
Genótipo , Células Matadoras Naturais/fisiologia , Receptores KIR2DL1/genética , População Branca , Alelos , Linhagem Celular , Consanguinidade , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Homozigoto , Humanos , Polimorfismo Genético , Alinhamento de Sequência , Organização Mundial da SaúdeRESUMO
Full-length KIR2DL1 allele sequence extensions characterised by single molecule real-time (SMRT) DNA sequencing.
Assuntos
Genótipo , Íntrons/genética , Receptores KIR2DL1/genética , Alelos , Estudos de Coortes , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Polimorfismo de Nucleotídeo Único , Reino Unido , Organização Mundial da SaúdeRESUMO
The HLA system shows the most extensive polymorphism in the human genome. Allelic and haplotypic frequencies of HLA genes vary dramatically across human populations. Due to a complex history of migration, populations in Latin America show a broad variety of admixture proportions, usually varying not only between countries, but also within countries. Knowledge of HLA allele and haplotype frequencies is essential for medical fields such as transplantation, but also serves as a means to assess genetic diversity and ancestry in human populations. Here, we have determined high-resolution HLA-A, -B, -C, and -DRB1 allele and haplotype frequencies in a sample of 713 healthy subjects from three Mestizo populations, one population of African descent, and Amerindians of five different groups from Costa Rica and Nicaragua and compared their profiles to a large set of indigenous populations from Iberia, Sub-Saharan Africa, and the Americas. Our results show a great degree of allelic and haplotypic diversity within and across these populations, with most extended haplotypes being private. Mestizo populations show alleles and haplotypes of putative European, Amerindian, and Sub-Saharan African origin, albeit with differential proportions. Despite some degree of gene flow, Amerindians and Afro-descendants show great similarity to other Amerindian and West African populations, respectively. This is the first comprehensive study reporting high-resolution HLA diversity in Central America, and its results will shed light into the genetic history of this region while also supporting the development of medical programs for organ and stem cell transplantation.
Assuntos
Genótipo , Antígenos HLA/genética , Indígenas Sul-Americanos , Alelos , População Negra , Costa Rica , Frequência do Gene , Humanos , Desequilíbrio de Ligação , Nicarágua , Polimorfismo Genético , TransplanteAssuntos
Alelos , Antígenos HLA/genética , Terminologia como Assunto , Antígenos HLA/classificação , Antígenos HLA-A/classificação , Antígenos HLA-A/genética , Antígenos HLA-B/classificação , Antígenos HLA-B/genética , Antígenos HLA-C/classificação , Antígenos HLA-C/genética , Antígenos HLA-DP/classificação , Antígenos HLA-DP/genética , Antígenos HLA-DQ/classificação , Antígenos HLA-DQ/genética , Antígenos HLA-DR/classificação , Antígenos HLA-DR/genética , Humanos , Análise de Sequência de DNAAssuntos
Alelos , Antígenos HLA/genética , Terminologia como Assunto , Antígenos HLA/classificação , Antígenos HLA-A/classificação , Antígenos HLA-A/genética , Antígenos HLA-B/classificação , Antígenos HLA-B/genética , Antígenos HLA-C/classificação , Antígenos HLA-C/genética , Antígenos HLA-DP/classificação , Antígenos HLA-DP/genética , Antígenos HLA-DQ/classificação , Antígenos HLA-DQ/genética , Antígenos HLA-DR/classificação , Antígenos HLA-DR/genética , Antígenos HLA-G/genética , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Análise de Sequência de DNA , Antígenos HLA-EAssuntos
Alelos , Antígenos HLA/genética , Terminologia como Assunto , Antígenos HLA/classificação , Antígenos HLA-A/classificação , Antígenos HLA-A/genética , Antígenos HLA-B/classificação , Antígenos HLA-B/genética , Antígenos HLA-C/classificação , Antígenos HLA-C/genética , Antígenos HLA-DP/classificação , Antígenos HLA-DP/genética , Antígenos HLA-DQ/classificação , Antígenos HLA-DQ/genética , Antígenos HLA-DR/classificação , Antígenos HLA-DR/genética , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Análise de Sequência de DNARESUMO
The hyperpolymorphic HLA genes play important roles in disease and transplantation and act as genetic markers of migration and evolution. A panel of 107 B-lymphoblastoid cell lines (B-LCLs) was established in 1987 at the 10th International Histocompatibility Workshop as a resource for the immunogenetics community. These B-LCLs are well characterised and represent diverse ethnicities and HLA haplotypes. Here we have applied Pacific Biosciences' Single Molecule Real-Time (SMRT) DNA sequencing to HLA type 126 B-LCL, including the 107 International HLA and Immunogenetics Workshop (IHIW) cells, to ultra-high resolution. Amplicon sequencing of full-length HLA class I genes (HLA-A, -B and -C) and partial length HLA class II genes (HLA-DRB1, -DQB1 and -DPB1) was performed. We typed a total of 931 HLA alleles, 895 (96%) of which were consistent with the typing in the IPD-IMGT/HLA Database (Release 3.27.0, January 20, 2017), with 595 (64%) typed at a higher resolution. Discrepant types, including novel alleles (n = 10) and changes in zygosity (n = 13), as well as previously unreported types (n = 34) were observed. In addition, patterns of linkage disequilibrium were distinguished by four-field resolution typing of HLA-B and HLA-C. By improving and standardising the HLA typing of these B-LCLs, we have ensured their continued usefulness as a resource for the immunogenetics community in the age of next generation DNA sequencing.
