RESUMO
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
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
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
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
Hematopoietic stem cell (HSC) transplantation, using either bone marrow (BM) or peripheral blood stem cells (PBSC), is a well-established therapy for various hematologic and non-hematologic diseases. However, the long-term health outcomes after HSC donation remain a major concern for several potential donors. Thus, we aimed to conduct a matched cohort study of 5003 unrelated donors (1099 BM and 3904 PBSC) and randomly selected 50,030 matched controls based on age, sex, and resident area from the donor registry between 1998 and 2018. The medical insurance claims of all the participants were retrieved from the Taiwan National Health and Welfare Data Science Center after de-identification. Our findings revealed no differences in the incidence of cancer, death, and catastrophic diseases between HSC donors and matched healthy participants during long-term follow-up. Kaplan-Meier curves depicting the cumulative incidence of cancer and overall mortality throughout the follow-up period also demonstrated similar outcomes between donors and non-donors. In conclusion, our results indicate that HSC donation, whether through BM or PBSC, is safe and not associated with an increased risk of cancer, death, or catastrophic diseases. These findings provide valuable information for counseling potential HSC donors and for long-term management of HSC donor health.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Neoplasias , Humanos , Neoplasias/terapia , Masculino , Feminino , Seguimentos , Adulto , Transplante de Células-Tronco Hematopoéticas/métodos , Pessoa de Meia-Idade , Estudos de Coortes , Doença Catastrófica , Taiwan/epidemiologia , Doadores de TecidosRESUMO
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
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
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
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
One nucleotide substitution in codon 217 of HLA-DRB1*09:01:02:01 results in a novel allele HLA-DRB1*09:01:15.
Assuntos
Cadeias HLA-DRB1 , Humanos , Cadeias HLA-DRB1/genética , Sequência de Bases , Alelos , Éxons/genética , Códon , Análise de Sequência de DNA , Taiwan , Teste de HistocompatibilidadeRESUMO
One nucleotide substitution in codon 131 of HLA-C*03:04:01:01 results in a novel allele, HLA-C*03:04:89.
Assuntos
Antígenos HLA-C , Humanos , Sequência de Bases , Antígenos HLA-C/genética , Alelos , Teste de Histocompatibilidade , Códon , Taiwan , Análise de Sequência de DNA/métodosRESUMO
Two nucleotide substitutions in codon 24 of HLA-A*02:01:01:01 result in a novel allele HLA-A*02:570:01.
Assuntos
Antígenos HLA-A , Humanos , Alelos , Povo Asiático/genética , Sequência de Bases , Códon , Teste de Histocompatibilidade , Antígenos HLA-A/genética , Análise de Sequência de DNA , TaiwanRESUMO
One nucleotide substitution in codon 140 of HLA-DRB1*04:05:01:01 results in a novel allele, HLA-DRB1*04:358.
Assuntos
Sequência de Bases , Humanos , Alelos , Éxons/genética , Códon , Cadeias HLA-DRB1/genética , Análise de Sequência de DNA , Taiwan , Teste de HistocompatibilidadeRESUMO
One nucleotide substitution in codon 112 of HLA-C*14:24:01 results in a novel allele, HLA-C*14:24:02.
Assuntos
Antígenos HLA-C , Humanos , Sequência de Bases , Antígenos HLA-C/genética , Alelos , Éxons/genética , Análise de Sequência de DNA , Teste de HistocompatibilidadeRESUMO
One nucleotide substitution in codon 67 of HLA-B*40:02:01:01 results in a novel allele, HLA-B*40:02:03.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Códon , Povo Asiático/genética , Taiwan , Análise de Sequência de DNA , Teste de HistocompatibilidadeRESUMO
One nucleotide substitution in codon 317 of HLA-B*57:01:01:01 results in the novel allele, HLA-B*57:164.