RESUMO
The novel HLA-C*15:279 allele differs from HLA-C*15:02:01:01 by five nucleotide substitutions in exons 4 and 5.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Antígenos HLA-C/genética , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade/métodos , Alinhamento de Sequência , Códon , População do Leste AsiáticoRESUMO
The HLA-C*01:274 allele differs from HLA-C*01:02:01:01 by one nucleotide substitution in codon 240 in exon 4.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Códon , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Antígenos HLA-C/genética , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , População do Leste AsiáticoRESUMO
Although cases of Legionnaires' disease are notifiable, data on the phenotypic and genotypic characterisation of clinical isolates are limited. This retrospective study aims to report the results of the characterisation of Legionella clinical isolates in Spain from 2012 to 2022. Monoclonal antibodies from the Dresden panel were used for phenotypic identification of Legionella pneumophila. Genotypic characterisation and sequence type assignment were performed using the Sequence-Based Typing scheme. Of the 1184 samples, 569 were identified as Legionella by culture. Of these, 561 were identified as L. pneumophila, of which 521 were serogroup 1. The most common subgroups were Philadelphia (n = 107) and Knoxville (n = 106). The SBT analysis revealed 130 different STs, with the most common genotypes being ST1 (n = 87), ST23 (n = 57), ST20 (n = 30), and ST42 (n = 29). Knoxville has the highest variability with 32 different STs. ST23 is mainly found in Allentown/France (n = 46) and ST42 in Benidorm (n = 18), whereas ST1 is widely distributed. The results demonstrate that clinical isolates show high genetic diversity, although only a few sequence types (STs) are responsible for most cases. However, outbreaks can also occur with rare genotypes. More data on LD and associated epidemiological studies are needed to establish the risk of an isolate causing outbreak in the future.
RESUMO
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.
Assuntos
Alelos , Sequência de Bases , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Análise de Sequência de DNA/métodos , Alinhamento de Sequência , Substituição de Aminoácidos , CódonRESUMO
One nucleotide substitution in codon 130 of HLA-DQB1*03:03:02:01 results in a novel allele HLA-DQB1*03:96.
Assuntos
Alelos , Códon , Éxons , Cadeias beta de HLA-DQ , Teste de Histocompatibilidade , Humanos , Cadeias beta de HLA-DQ/genética , Taiwan , Sequência de Bases , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
A nucleotide mutation in codon 171 of HLA-A*11:01:01:01 results in a novel allele HLA-A*11:127N.
Assuntos
Alelos , Códon , Éxons , Antígeno HLA-A11 , Teste de Histocompatibilidade , Humanos , Taiwan , Antígeno HLA-A11/genética , Éxons/genética , Teste de Histocompatibilidade/métodos , Sequência de Bases , Análise de Sequência de DNA/métodos , Povo Asiático/genéticaRESUMO
One nucleotide substitution in codon 81 of HLA-B*40:01:01 results in a novel allele, HLA-B*40:400.
Assuntos
Alelos , Éxons , Antígeno HLA-B40 , Haplótipos , Teste de Histocompatibilidade , Humanos , Taiwan , Antígeno HLA-B40/genética , Sequência de Bases , Códon , Análise de Sequência de DNA/métodos , Povo Asiático/genética , Polimorfismo de Nucleotídeo Único , Alinhamento de Sequência , Antígenos HLA-B/genéticaRESUMO
Two nucleotide substitutions in codon 152 of HLA-C*08:01:01:01 result in a novel allele HLA-C*08:66.
Assuntos
Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Alelos , Sequência de Bases , Códon , Teste de Histocompatibilidade/métodos , Antígenos HLA-C/genética , Alinhamento de Sequência , Análise de Sequência de DNA/métodos , TaiwanRESUMO
A nucleotide deletion in the residue 371 of HLA-A*11:01:01:01 results in a novel allele HLA-A*11:466N.
Assuntos
Éxons , Antígeno HLA-A11 , Teste de Histocompatibilidade , Humanos , Alelos , Sequência de Bases , Códon , Antígeno HLA-A11/genética , Alinhamento de Sequência , Análise de Sequência de DNA , Deleção de Sequência , TaiwanRESUMO
Nucleotide substitution in codon 238 of HLA-C*12:02:02:01 results in a novel allele, HLA-C*12:02:53.
Assuntos
Alelos , Sequência de Bases , Códon , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Taiwan , Análise de Sequência de DNA , Povo Asiático/genética , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , Substituição de AminoácidosRESUMO
One nucleotide substitution in codon 264 of HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:359.
Assuntos
Antígenos HLA-C , Polimorfismo de Nucleotídeo Único , Humanos , Sequência de Bases , Antígenos HLA-C/genética , Alelos , Substituição de Aminoácidos , Éxons/genética , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade , Doadores de Tecidos , TaiwanRESUMO
Objectives: It is thought that Taiwanese indigenous people were the "first people" to populate Taiwan (Formosa) having been there for over 5000 years, preceding the Dutch colonization (from 1624 to 1662) and Spanish colonization (from 1626 to 1642). Taiwan's indigenes, represented by Austronesian language speakers, currently constitute approximately 2% of the total population in Taiwan. It is unknown whether they evolved from Taiwan's Paleolithic or Neolithic cultures, arrived during or after the Neolithic period from China or Southeast Asia or both. HLA studies on the Taiwanese indigenous population have found several intriguing genetic information showing one or two relatively frequently observed alleles and a small number of relatively less frequently observed ones. We report here a relatively frequently observed HLA-C*07:359 allele in the Taiwanese indigenous population, its linkage with HLA-B*39:01, and its probable associated HLA haplotype in two Taiwanese indigenous families. HLA-C*07:359 is a rarely observed allele in the HLA-C locus in the world populations. The objective of this study is to report the allele HLA-C*07:359 that is more frequently found in the Taiwanese population, especially in the Taiwanese indigenous people, to demonstrate that it has a close linkage with HLA-B*39:01 allele in the HLA-B locus and to show the plausible deduced HLA-A-C-B-DRB1-DQB1 haplotypes in association with HLA-C*07:359 in two families of Taiwanese indigenous unrelated individuals. Materials and Methods: The samples were peripheral whole blood, with dipotassium ethylenediaminetetraacetic acid and/or acid citrate dextrose anticoagulation additives. The sequence-based typing method was employed to confirm the low incidence of the allele of HLA-C*07:359 observed in Taiwanese. Polymerase chain reaction was carried out to amplify exons 2, 3, and 4 of the HLA-A,-B,-C,-DRB1 and-DQB1 loci with group-specific primer sets. Amplicons were sequenced using the BigDye Terminator Cycle Sequencing Ready Reaction Kit in both directions according to the manufacturer's protocol. Results: C*07:359 is an uncommon allele in the HLA-C locus in the world general population, according to our literature review. However, in this study, it is observed in the general Taiwanese population (frequency 0.41%), especially in the Taiwanese indigenous people at a frequency of 0.23%. In addition, we deduced two probable HLA haplotypes in association with C*07:359 in two indigenous families: A*24:02-C*07:359-B*39:01-DRB1*04:36 and A*24:02-C*07:359-B*39:01-DRB1*04:04. Conclusion: The two deduced HLA haplotypes associated with the uncommon C*07:359 allele that we report here are valuable for HLA tissue typing laboratories for reference purposes and for stem cell transplantation donor search coordinators to determine the likelihood of finding compatible donors in unrelated bone marrow donor registries for patients bearing the uncommon HLA allele. Since C*07:359 was found mostly in the Taiwanese indigenous population, we think the allele and its haplotypes we report here are important in population and anthropological studies.
RESUMO
The HLA-A*24:627 allele differs from HLA-A*24:02:01:01 by one nucleotide substitution in codon 172 in exon 2.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Antígeno HLA-A24 , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Povo Asiático/genética , Antígeno HLA-A24/genética , Análise de Sequência de DNA/métodos , Códon , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , População do Leste AsiáticoRESUMO
Genes encoding bovine leukocyte antigen (BoLA) enable the immune system to identify pathogens. Therefore, these genes have been used as genetic markers for infectious and autoimmune diseases as well as for immunological traits in cattle. Although BoLA polymorphisms have been reported in various cattle breeds worldwide, they have not been studied in cattle populations in Egypt. In this study, we characterized BoLA-DRB3 in two local Egyptian populations and one foreign population using polymerase chain reaction-sequence-based typing (PCR-SBT) method. Fifty-four previously reported BoLA-DRB3 alleles and eight new alleles (BoLA-DRB3*005:08, *015:07, *016:03, *017:04, *020:02:02, *021:03, *164:01, and *165:01) were identified. Alignment analysis of the eight new alleles revealed 90.7-98.9 %, and 83.1-97.8 % nucleotide and amino acid identities, respectively, with the BoLA-DRB3 cDNA clone NR-1. Interestingly, BoLA-DRB3 in Egyptian cattle showed a high degree of allelic diversity in native (na = 28, hE > 0.95), mixed (na = 61, hE > 0.96), and Holstein (na = 18, hE > 0.88) populations. BoLA-DRB3*002:01 (14.3 %), BoLA-DRB3*001:01 (8.5 %), and BoLA-DRB3*015:01 (20.2 %) were the most frequent alleles in native, mixed, and Holstein populations, respectively, indicating that the genetic profiles differed in each population. Based on the allele frequencies of BoLA-DRB3, genetic variation among Egyptian, Asian, African, and American breeds was examined using Nei's distances and principal component analysis. The results suggested that native and mixed cattle populations were most closely associated with African breeds in terms of their gene pool, whereas Holstein cattle were more distinct from the other breeds and were closely related to Holstein cattle populations from other countries.
Assuntos
Antígenos de Histocompatibilidade Classe II , Animais , Bovinos/genética , Bovinos/imunologia , Egito , Antígenos de Histocompatibilidade Classe II/genética , Filogenia , Alelos , Frequência do Gene , Cruzamento , Variação Genética , Polimorfismo GenéticoRESUMO
HLA-A*11:463 has one nucleotide change from HLA-A*11:01:01:01 at nucleotide 508 changing Lysine (146) to Glutamine.
Assuntos
Antígenos HLA-A , Nucleotídeos , Humanos , Masculino , Sequência de Bases , Alelos , Antígenos HLA-A/genética , China , Pai , Análise de Sequência de DNARESUMO
Nucleotide substitutions in codons -1 and 84 of HLA-B*40:01:01 result in a novel allele, HLA-B*40:01:35.
Assuntos
Povo Asiático , Genes MHC Classe I , Humanos , Alelos , Povo Asiático/genética , Antígenos HLA-B/genética , NucleotídeosRESUMO
Two nucleotide substitutions in exon 3 of HLA-A*02:07:01:01 result in the novel allele, HLA-A*02:840.
Assuntos
Povo Asiático , Antígenos HLA-A , Nucleotídeos , Humanos , Alelos , Povo Asiático/genética , Éxons/genética , Antígenos HLA-A/genética , TaiwanRESUMO
Nucleotide substitution in codon 129 of HLA-B*15:01:01:01 results in a novel allele, HLA-B*15:01:17.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Códon , Povo Asiático/genética , Taiwan , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade/métodosRESUMO
One nucleotide substitution in codon 214 of HLA-C*03:04:01:01 results in a novel allele, HLA-C*03:649.
Assuntos
Antígenos HLA-C , Humanos , Sequência de Bases , Antígenos HLA-C/genética , Alelos , Éxons/genética , Códon , Taiwan , Análise de Sequência de DNA , Teste de HistocompatibilidadeRESUMO
The novel HLA-DPA1*01:130 allele differs from HLA-DPA1*01:03:01:03 by one nucleotide substitution in Exon 3.