RESUMO
HLA-A*26:103 differs from A*26:01:01 by one base (559C>G) in exon 3 resulting in an amino acid substitution of R163G.
Assuntos
Genes MHC Classe I , Antígenos HLA-A/genética , Alelos , Motivos de Aminoácidos , Sequência de Bases , Medula Óssea , Humanos , Dados de Sequência Molecular , Alinhamento de Sequência , Homologia de Sequência do Ácido Nucleico , Doadores de Tecidos , País de GalesRESUMO
HLA-A*01:139 differs from A*01:01:01:01 by one nucleotide (383G>C) resulting in an amino acid change of glycine104alanine.
Assuntos
Alelos , Éxons , Antígenos HLA-A/genética , Polimorfismo de Nucleotídeo Único , Substituição de Aminoácidos , Sequência de Bases , Códon , Antígenos HLA-A/imunologia , Haplótipos , Transplante de Células-Tronco Hematopoéticas , Teste de Histocompatibilidade , Humanos , Soros Imunes , Dados de Sequência Molecular , Análise de Sequência de DNA , Doadores de Tecidos , População BrancaRESUMO
A new allele, HLA-B*40:92, was identified in a north-western European subject during polymerase chain reaction using sequence-specific priming (PCR-SSP)-based typing of haematopoietic stem cell (HSC) donors. B*40:92 differs from B*40:01:01 by six nucleotides at positions 559, 560, 603, 605, 610 and 618 in exon 3 which represents a substitution motif of at least 60 nucleotides. This motif, which occurs in numerous HLA alleles including the relatively high frequency B*15 and B*35 allele families, encode four amino acid changes at positions 163 (glutamic acid > leucine), 177 (aspartic acid > glutamic acid), 178 (lysine > threonine), 180 (glutamic acid > glutamine) and a silent substitution, conserved alanine, at codon 182. Thus, it is likely that HLA-B*40:92 occurred following a gene conversion-like or interallelic recombination event involving B*40:01:01 and probably a B*15 or more likely a B*35 family allele. HLA-B*40:92 was found on a haplotype with HLA-A*02:01, B*40:92, C*03:04, DRB1*13:02, DRB3*03:01, DQA1*01:02, DQB1*06:04, DPA1*02:02, DPB1*05:01. Tests on 69 selected B40 and B35 antisera and Lambda Monoclonal Trays™ show that B*40:92 encodes a 'short' B40/B60 serological specificity which displays some HLA-B35 reactivity. The HLA-B40 and HLA-B35 motifs (possible epitopes) responsible for this serological reactivity were identified. This single example of HLA- B*40:92 was found in 56,823 consecutive HLA PCR-SSP typed HSC donors indicating a carriage frequency of 0.00176% (allele frequency 0.00001) in blood donors resident in Wales. An Epstein-Barr virus transformed B-cell line from the HLA-B*40:92 donor is available.
Assuntos
Alelos , Antígenos HLA-B/genética , Especificidade de Anticorpos/imunologia , Sequência de Bases , Éxons/genética , Antígenos HLA-B/imunologia , Antígeno HLA-B40 , Humanos , Dados de Sequência Molecular , Sequências Reguladoras de Ácido Nucleico/genética , Alinhamento de SequênciaRESUMO
HLA-DRB1*0343 differs from DRB1*0330 by one nucleotide (G > C) resulting in an amino acid change of 38valine to 38leucine.
Assuntos
Doadores de Sangue , Antígenos HLA-DR/genética , Alelos , Substituição de Aminoácidos , Linfócitos B , Feminino , Cadeias HLA-DRB1 , Células-Tronco Hematopoéticas , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
HLA-B*0838 differs from B*080101 by three nucleotides resulting in an amino acid change of 63asparagine to 63glutamic acid and a synonymous substitution.
Assuntos
Variação Genética , Antígenos HLA-B/genética , Antígeno HLA-B8 , Teste de Histocompatibilidade , Humanos , Análise de Sequência de DNARESUMO
Human leucocyte antigen-Cw*0819 differs from Cw*0802 by two nucleotides resulting in an amino acid change of 99tyrosine to 99phenylalanine and a synonymous substitution.
Assuntos
Alelos , Antígenos HLA-C/genética , Substituição de Aminoácidos , Humanos , Fenilalanina/genética , Análise de Sequência de DNA , Tirosina/genéticaRESUMO
The human leukocyte antigen-B*15 variant B*9507 is similar to B*1505 (B62) but with substitutions of A>C at position 463 and G>C at position 477 in exon 3. This results in a single amino acid change of serine to arginine (AGC>CGC) at codon 131 and a silent substitution (GCG>GCC - conserved alanine) at codon 135.
Assuntos
Variação Genética , Antígenos HLA-B/genética , Alelos , Substituição de Aminoácidos , Antígeno HLA-B15 , Humanos , Reação em Cadeia da PolimeraseRESUMO
Unrelated donor registries use a variety of strategies for human leukocyte antigen typing newly recruited volunteers and for prospective typing and file maintenance projects. The approaches change over time with respect to the level of resolution and loci tested based on costs, advances in technologies and emerging clinical outcome data from matching studies.
Assuntos
Antígenos HLA/genética , Teste de Histocompatibilidade/métodos , Doadores de Tecidos , Humanos , Prontuários MédicosRESUMO
We designed a set of 35 polymerase chain reaction sequence-specific primers (PCR-SSP) in 29 SSP mixtures to assign 29 HLA-B*27 4-digit level alleles (B*2701-B*2721 and B*2723-B*2730). This was used in conjunction with our 41 PCR-SSP primer mixture low-resolution HLA-B typing set to fully differentiate B*27 from all other HLA-B alleles. Successful typing set validation used 521 B*27 samples covering 13 (B*2701-B*2710 and B*2712, B*2717, B*2723) alleles. The distribution of B*27 alleles was determined in a random population of 4020 local blood donors and the use of PCR-SSP B*27 typing in our routine flow cytometry-based HLA-B27/B2708 typing strategy is described.
Assuntos
Primers do DNA , Sondas de DNA de HLA , Antígeno HLA-B27/genética , Reação em Cadeia da Polimerase/métodos , Alelos , Citometria de Fluxo , Triagem de Portadores Genéticos/métodos , Genótipo , Humanos , Sensibilidade e EspecificidadeRESUMO
Urban hospital outpatient clinics in developing countries are said to be overburdened and some policy experts are proposing a new intermediate tier of advanced health centres between hospitals and health centres to solve this problem (termed 'reference centres' by the World Health Organization). In Maseru, Lesotho, hospital congestion led the Ministry of Health to decide to build reference centres. To delineate precisely how these centres should operate, research was carried out on the existing system comparing utilization, quality and cost between health centre and hospital outpatient care. The study showed that throughout per clinician at the hospital and the city health centres was similar; that the hospital service saw a greater proportion of adults and more men; that the technical care quality was similar; and, that health centre staff took longer with patients and had higher interpersonal consultation scores. Average costs at the hospital were 39 per cent greater, but, the calculated net costs to the provider at the hospital and at government centres were very similar once user fees had been taken into account. The results questioned the assumptions underlying the decision to build reference centres in Maseru, and also the relevance of a new tier to solve health service delivery problems in the city. The study highlights the need for national and municipal planners to examine carefully existing health services with respect to utilization, quality and cost before adopting urban reference centres as a standard solution to congested hospitals.