RESUMO
Nucleotide substitutions in codons 67 and 119 of HLA-B*15:02:01:01 result in a novel allele, HLA-B*15:404.
Assuntos
Medula Óssea , Antígenos HLA-B , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-B/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , Singapura , Doadores de TecidosRESUMO
Nucleotide substitutions in exon 2 of DRB1*14:54:01:01 result in the novel DRB1*14:119 allele.
Assuntos
Medula Óssea , Alelos , Sequência de Bases , Cadeias HLA-DRB1/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , SingapuraRESUMO
We describe the allele and haplotype frequencies seen in a volunteer unrelated bone marrow donor registry, a public cord blood bank, and donor/recipient samples processed by the Health Sciences Authority (HSA) in Singapore. Historical human leukocyte antigen (HLA) typing reports were anonymized and combined. They were checked for HLA typing nomenclature discrepancies or ambiguities using the HLA-net UNIFORMATE tool, and for analysis, the validated data were subsequently separated into Chinese, Malay, Indian, and "Others," according to the race classification system used in Singapore. Individual ethnic allele and haplotype frequencies were calculated with the HLA-net GENE[RATE] pipeline using basic statistics. The Basic Statistics Tool of HLA-net was used to estimate haplotype frequency using an expectation maximization algorithm, given a set of multi-allelic data pairs for a given HLA locus. The outputs downloaded from the site comprised plain text files with haplotype frequency estimates, results of a global linkage disequilibrium test, and standardized residuals (stdres) corresponding to deviations from expected frequencies. HLA typing results from 59,186 individuals met the inclusion criteria, yielding 118,372 analyzable alleles. In our study population, the haplotype A*33:03-B*58:01-C*03:02-DRB1*03:01ï½DQB1*02:01:01G with a frequency of 4.91% was the most common. This haplotype was also the most common among Singaporean Chinese donors. Consistent with the predominant Chinese population, haplotypes with a frequency greater than 1% were also the most frequently observed haplotypes in the Singaporean population. In the Malay donor population, the most common haplotype was A*33:03ï½B*44:03ï½C*07:01:01Gï½ DRB1*07:01-DQB1*02:01:01G, with a frequency of 3.41%, whereas within the Indian donor population, the most common haplotype was A*01:01-B*57:01-C*06:02ï½DRB1*07:01-DQB1*03:03, with a frequency of 3.42%. Haplotype diversity and composition statistics within donor pools provide HLA background data required for the targeted recruitment of donors to support the hematopoietic stem cell donor requirements of the country. These data may be used in the future to devise donor recruitment strategies for optimizing the donor pool through targeted publicity and accruals.
RESUMO
One nucleotide substitution in codon 95 of HLA-C*07:04:01:01 results in a novel allele, HLA-C*07:199:01.
Assuntos
Antígenos HLA-C , Transplante de Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-C/genética , Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Análise de Sequência de DNA , Doadores não RelacionadosRESUMO
One nucleotide substitution in codon 108 of HLA-C*03:03:01:01 results in a novel allele, HLA-C*03:88.
Assuntos
Medula Óssea , Antígenos HLA-C , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-C/genética , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNA , Doadores de TecidosRESUMO
One nucleotide substitution in codon 120 of HLA-B*18:01:01:01 results in a novel allele, HLA-B*18:116.
Assuntos
Medula Óssea , Antígenos HLA-B , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-B/genética , Humanos , Análise de Sequência de DNA , Doadores de TecidosRESUMO
One nucleotide substitution in Codon 58 of HLA-C*06:02:01:01 results in a novel allele, HLA-C*06:195.
Assuntos
Antígenos HLA-C , Transplante de Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-C/genética , Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Análise de Sequência de DNA , TaiwanRESUMO
One nucleotide substitution in codon 85 of HLA-DPB1*04:01:01:01 results in a novel allele, HLA-DPB1*454:01.
Assuntos
Alelos , Sequência de Bases , Cadeias beta de HLA-DP/genética , Humanos , MalásiaRESUMO
One nucleotide substitution in codon 84 of HLA-DPB1*02:01:02:01 results in a novel allele, HLA-DPB1*526:01.
Assuntos
Alelos , Sequência de Bases , Códon , Cadeias beta de HLA-DP/genética , HumanosRESUMO
One nucleotide substitution in codon 87 of HLA-DQB1*05:02:01:01 results in a novel allele, HLA-DQB1*05:116.
Assuntos
Alelos , China , Éxons/genética , Cadeias beta de HLA-DQ/genética , Humanos , Análise de Sequência de DNARESUMO
One nucleotide substitution in codon 73 of HLA-A*01:01:01:01 results in a novel allele, HLA-A*01:211.
Assuntos
Medula Óssea , Doadores de Tecidos , Alelos , Substituição de Aminoácidos , Sequência de Bases , Éxons/genética , Antígenos HLA-A/genética , Teste de Histocompatibilidade , Humanos , Malásia , Análise de Sequência de DNARESUMO
One nucleotide substitution in codon 89 of HLA-B*38:02:01:01 results in a novel allele, HLA-B*38:64.
Assuntos
Antígenos HLA-B , Transplante de Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-B/genética , Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Malásia , Alinhamento de Sequência , Análise de Sequência de DNA , TaiwanRESUMO
Nucleotide substitutions in codon 38 of HLA-DQB1*05:03:01:01 result in a novel allele, HLA-DQB1*05:66:01.
Assuntos
Medula Óssea , Alelos , Sequência de Bases , Éxons/genética , Cadeias beta de HLA-DQ/genética , Humanos , MalásiaRESUMO
One nucleotide substitution in codon 38 of HLA-DQB1*06:01:01:01 results in a novel allele, HLA-DQB1*06:132.
Assuntos
Medula Óssea , Alelos , Éxons/genética , Cadeias beta de HLA-DQ/genética , Teste de Histocompatibilidade , Humanos , Malásia , Análise de Sequência de DNARESUMO
One nucleotide substitution in codon 112 of HLA-B*15:349:01 results in a novel allele, HLA-B*15:349:02.
Assuntos
Medula Óssea , Antígenos HLA-B , Alelos , Substituição de Aminoácidos , Sequência de Bases , Éxons/genética , Antígenos HLA-B/genética , Teste de Histocompatibilidade , Humanos , Malásia , Análise de Sequência de DNA , Doadores de TecidosRESUMO
DNA substitutions from codons 69 to 71 of HLA-B*35:05:01:01 result in a novel allele, HLA-B*35:368.
Assuntos
Antígenos HLA-B , Transplante de Células-Tronco Hematopoéticas , Alelos , Sequência de Bases , Éxons/genética , Antígenos HLA-B/genética , Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Malásia , Análise de Sequência de DNA , TaiwanRESUMO
A catalog of common, intermediate and well-documented (CIWD) HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQB1 and -DPB1 alleles has been compiled from over 8 million individuals using data from 20 unrelated hematopoietic stem cell volunteer donor registries. Individuals are divided into seven geographic/ancestral/ethnic groups and data are summarized for each group and for the total population. P (two-field) and G group assignments are divided into one of four frequency categories: common (≥1 in 10 000), intermediate (≥1 in 100 000), well-documented (≥5 occurrences) or not-CIWD. Overall 26% of alleles in IPD-IMGT/HLA version 3.31.0 at P group resolution fall into the three CIWD categories. The two-field catalog includes 18% (n = 545) common, 17% (n = 513) intermediate, and 65% (n = 1997) well-documented alleles. Full-field allele frequency data are provided but are limited in value by the variations in resolution used by the registries. A recommended CIWD list is based on the most frequent category in the total or any of the seven geographic/ancestral/ethnic groups. Data are also provided so users can compile a catalog specific to the population groups that they serve. Comparisons are made to three previous CWD reports representing more limited population groups. This catalog, CIWD version 3.0.0, is a step closer to the collection of global HLA frequencies and to a clearer view of HLA diversity in the human population as a whole.
Assuntos
Alelos , Genética Populacional , Antígenos de Histocompatibilidade Classe II/genética , Antígenos de Histocompatibilidade Classe I/genética , Frequência do Gene , Haplótipos , HumanosRESUMO
One nucleotide replacement in codon 13 of HLA-A*02:01:01:01 results in a novel allele, HLA-A*02:611.
Assuntos
Povo Asiático , Antígenos HLA-A , Alelos , Povo Asiático/genética , China , Códon , Éxons/genética , Antígenos HLA-A/genética , Humanos , Análise de Sequência de DNA , SingapuraRESUMO
One nucleotide substitution in codon 46 of HLA-DQB1*05:01:01:01 results in a new allele, HLA-DQB1*05:115.
Assuntos
Povo Asiático/genética , Variação Genética , Cadeias beta de HLA-DQ/genética , Sequência de Bases , Códon/genética , Éxons/genética , Humanos , Índia , SingapuraRESUMO
One nucleotide replacement in codon 50 of HLA-C*07:02:01:01 results in a novel allele, HLA-C*07:465.
