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1.
Br J Dermatol ; 174(6): 1308-17, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26800492

RESUMO

BACKGROUND: Risk of melanoma is determined by genetic and exogenous factors. Only a few studies have included both characteristics in a comprehensive multivariable analysis. OBJECTIVES: To find determinants of patients at high risk of melanoma in Austria, including phenotype, genotype and lifestyle characteristics in comprehensive analyses. METHODS: In total, 1668 patients with melanoma from the M3 case-control study were studied. Overall, 567 participants were sequenced for CDKN2A, 232 for CDK4, 123 for MITF encoding the variant E318K and 964 for MC1R. RESULTS: Patients with melanoma with a positive family history (n = 190, 11·6%), multiple primary melanomas (n = 261, 15·7%) and younger age (< 50 years, n = 675, 40·5%) were defined as being at high risk. All other patients with melanoma were defined as the reference group. We found significant differences between those two groups and between the high-risk subgroups (positive family history, multiple primary melanomas and younger age). Pigmentation phenotype was associated with the high-risk group in general (childhood freckling, odds ratio 1·46, P = 0·007; blond/reddish hair colour, odds ratio 1·43, P = 0·011). Patients with a positive family history and patients with early-onset disease were similar regarding both their phenotypic characteristics and external factors. Established high-risk mutations in CDKN2A were found in cases with a positive family history (n = 12) or multiple melanomas (n = 2). Moreover, we found three patients carrying the MITF p.E318K variant, two with a CDK4 variant and seven with nonsynonymous MC1R variants with undescribed biological significance, of which four were predicted as damaging. CONCLUSIONS: Austrian patients could represent a reservoir for novel genetic variants. Further investigation of populations in Central and Eastern Europe might reveal more novel and disease-relevant variants.


Assuntos
Melanoma/epidemiologia , Neoplasias Cutâneas/epidemiologia , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Áustria/epidemiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Melanoma/genética , Pessoa de Meia-Idade , Mutação/genética , Proteínas de Neoplasias/genética , Linhagem , Fatores de Risco , Neoplasias Cutâneas/genética , Pigmentação da Pele , Luz Solar/efeitos adversos , Adulto Jovem
2.
Allergy ; 70(1): 49-58, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25236500

RESUMO

BACKGROUND: Fluorescence-labeled MHC class II/peptide tetramer complexes are considered as optimal tools to characterize allergen-specific CD4(+) T cells, but this technique is restricted to frequently expressed HLA class II molecules and knowledge of immunodominant epitopes. In contrast, allergen-stimulated proliferation assessed by CFSE dilution is less sophisticated and widely applicable. The major mugwort allergen, Art v 1, contains only one single, immunodominant, HLA-DR1-restricted epitope (Art v 125-36 ). Thus, essentially all Art v 1-reactive cells should be identified by a HLA-DRB1*01:01/Art v 119-36 tetramer. METHODS: We compared specificity and sensitivity of tetramer(+) and allergen-induced proliferating (CFSE(lo) ) CD4(+) T cells by flow cytometry. RESULTS: The frequency of tetramer(+) CD4(+) T cells determined ex vivo in PBMC of mugwort-allergic individuals ranged from 0 to 0.029%. After 2-3 weeks of in vitro expansion, sufficient tetramer(+) T cells for phenotyping were detected in 83% of Art v 125-36 -reactive T-cell lines (TCL) from mugwort-allergic individuals, but not in TCL from healthy individuals. The tetramers defined bona fide Th2 cells. Notably, Art v 125-36 -reactive TCL depleted of tetramer(+) T cells still reacted to the peptide, and only 44% of Art v 125-36 -specific T-cell clones were detected by the tetramer. CFSE(lo) CD4(+) T cells contained only 0.3-10.7% of tetramer(+) T cells and very low proportions of Th2 cells. CONCLUSION: Allergen-specific T cells can be identified by HLA class II tetramers with high specificity, but unexpected low sensitivity. In contrast, allergen-stimulated CFSE(lo) CD4(+) T cells contain extremely high fractions of bystander cells. Therefore, for T-cell monitoring, either method should be interpreted with caution.


Assuntos
Alérgenos/imunologia , Epitopos de Linfócito T/imunologia , Antígenos de Histocompatibilidade Classe II/imunologia , Ativação Linfocitária/imunologia , Peptídeos/imunologia , Multimerização Proteica/imunologia , Sequência de Aminoácidos , Antígenos de Plantas/imunologia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/metabolismo , Epitopos de Linfócito T/química , Humanos , Imunofenotipagem , Leucócitos Mononucleares/imunologia , Leucócitos Mononucleares/metabolismo , Dados de Sequência Molecular , Peptídeos/química , Fenótipo , Pólen/efeitos adversos , Rinite Alérgica Sazonal/diagnóstico , Rinite Alérgica Sazonal/imunologia , Especificidade do Receptor de Antígeno de Linfócitos T/imunologia
3.
Tissue Antigens ; 83(2): 65-75, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24447174

RESUMO

Next generation sequencing (NGS) denotes novel sequencing technologies that enable the generation of a large number of clonal sequences in a single sequencing run. NGS was initially introduced for whole genome sequencing and for quantitation of viral variants or genetic mutations in tumor tissues; more recently, the potential for high resolution HLA typing and high throughput analyses has been explored. It became clear that the complexity of the HLA system implicates new challenges, especially for bioinformatics. From an economical point of view, NGS is becoming increasingly attractive for HLA typing laboratories currently relying on Sanger based sequencing. Realizing the full potential of NGS will require the development of specifically adapted typing strategies and software algorithms. In the present review, three laboratories that were among the first to perform HLA-typing using different NGS platforms, the Roche 454, the Illumina Miseq and the Ion Torrent system, respectively, give an overview of these applications and point out advantages and limitations.


Assuntos
Antígenos HLA/classificação , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Software , Algoritmos , Antígenos HLA/genética , Sequenciamento de Nucleotídeos em Larga Escala/instrumentação , Sequenciamento de Nucleotídeos em Larga Escala/normas , Teste de Histocompatibilidade/instrumentação , Teste de Histocompatibilidade/normas , Humanos , Projetos de Pesquisa , Análise de Sequência de DNA
4.
Br J Dermatol ; 171(3): 622-30, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24665948

RESUMO

BACKGROUND: Only recently, site-dependent associations of actinic damage with melanoma were identified in our study population. OBJECTIVES: To elucidate the diverse aetiologies for actinic damage at different body sites. METHODS: We performed multivariate logistic regression analyses to identify independent risk factors for actinic damage on the face, hands and the back in 2112 participants of central European origin. RESULTS: For actinic damage on the face, age was the only risk factor that remained consistently significant in a multivariate analysis, whereas actinic damage on the back was predominantly associated with number of sunburns, freckles in childhood, holiday weeks and male sex. Moreover, we identified a particular significance of MC1R variants and dorsal actinic skin damage. CONCLUSIONS: The particular effect of MC1R variants and sun exposure during recreational time on dorsal actinic damage indicates that actinic damage on the back is more informative regarding susceptibility to sunlight and past sun exposure associated with melanoma risk.


Assuntos
Exposição Ambiental/efeitos adversos , Transtornos de Fotossensibilidade/etiologia , Receptor Tipo 1 de Melanocortina/genética , Luz Solar/efeitos adversos , Adulto , Distribuição por Idade , Dorso , Dermatoses Faciais/etiologia , Feminino , Dermatoses da Mão/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Distribuição por Sexo
5.
Int J Immunogenet ; 40(1): 39-45, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23280119

RESUMO

In the last fifteen years, published reports have described KIR gene-content frequency distributions in more than 120 populations worldwide. However, there have been limited studies examining these data in aggregate to detect overall patterns of variation at regional and global levels. Here, we present a summary of the collection of KIR gene-content data for 105 worldwide populations collected as part of the 15th and 16th International Histocompatibility and Immunogenetics Workshops, and preliminary results for data analysis.


Assuntos
Variação Genética , Histocompatibilidade/genética , Receptores KIR/genética , Etnicidade/genética , Frequência do Gene , Genética Populacional , Haplótipos , Humanos , Imunoglobulinas/genética , Ligantes
6.
Allergy ; 67(5): 609-21, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22339348

RESUMO

BACKGROUND: More than 90% of house dust mite-allergic patients are sensitized to the major Dermatophagoides pteronyssinus allergen, Der p 2. The aim of this study was to develop and characterize an allergy vaccine based on carrier-bound Der p 2 peptides, which should allow reducing IgE- and T-cell-mediated side-effects during specific immunotherapy (SIT). METHODS: Five Der p 2 peptides (P1-P5) were synthesized and analyzed regarding IgE reactivity and allergenic activity. Lymphoproliferative and cytokine responses induced with Der p 2 and Der p 2 peptides were determined in peripheral blood mononuclear cells from mite-allergic patients. Der p 2-specific IgG antibodies induced with carrier-bound Der p 2 peptides in mice and rabbits were tested for their capacity to inhibit IgE binding and basophil activation in allergic patients. RESULTS: Of five overlapping peptides (P1-P5) covering the Der p 2 sequence, two peptides (P2 and P4) were identified, which showed no relevant IgE reactivity, allergenic activity, and induced lower Der p 2-specific T-cell activation than Der p 2. However, when coupled to a carrier, P2 and P4 induced Der p 2-specific IgG antibodies in animals, which inhibited allergic patients' IgE binding to the allergen and allergen-induced basophil activation similar as antibodies induced with Der p 2. CONCLUSIONS: Carrier-bound Der p 2 peptides should allow avoiding IgE-mediated side-effects, and because of their low potential to activate allergen-specific T cells, they may reduce late-phase side-effects during SIT. Further, these peptides may be also useful for prophylactic vaccination.


Assuntos
Alérgenos/imunologia , Anticorpos Bloqueadores/imunologia , Antígenos de Dermatophagoides/imunologia , Proteínas de Artrópodes/imunologia , Basófilos/imunologia , Hipersensibilidade/imunologia , Imunoglobulina G/imunologia , Peptídeos/imunologia , Sequência de Aminoácidos , Animais , Especificidade de Anticorpos/imunologia , Antígenos de Dermatophagoides/química , Proteínas de Artrópodes/química , Basófilos/metabolismo , Citocinas/imunologia , Citocinas/metabolismo , Feminino , Hemocianinas/química , Humanos , Imunoglobulina E/imunologia , Imunoglobulina E/metabolismo , Leucócitos Mononucleares/imunologia , Leucócitos Mononucleares/metabolismo , Ativação Linfocitária/imunologia , Camundongos , Camundongos Endogâmicos BALB C , Dados de Sequência Molecular , Peptídeos/química , Diester Fosfórico Hidrolases/metabolismo , Ligação Proteica/imunologia , Pyroglyphidae/imunologia , Pirofosfatases/antagonistas & inibidores , Pirofosfatases/metabolismo , Coelhos , Linfócitos T/imunologia , Linfócitos T/metabolismo , Vacinas Conjugadas/imunologia
8.
Tissue Antigens ; 74(6): 486-93, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19778321

RESUMO

In humans, the region configurations DR1, DR8, DR51, DR52 and DR53 are known to display copy number as well as allelic variation, rendering high resolution typing of HLA-DRB haplotypes cumbersome. Advantage was taken of microsatellite D6S2878, present in all DRB genes/pseudogenes with an intact exon 2-intron 2 segment. This DRB-STR is highly polymorphic in composition and length. Recently, it was proven that all exon 2 sequences could be linked to a certain DRB-STR that segregates with the respective DRB allele. Because haplotypes show differential copy numbers and compositions of exon 2-positive DRB genes/pseudogenes, unique DRB-STR patterns could be described that appear to be specific for a particular DRB haplotype. The aim of this workshop project was to approve and to qualify this simple typing protocol in a larger panel covering different European populations. All participants succeeded in correctly defining the DRB-STR amplicons varying from 135 to 222 base pair (bp) lengths. The panel of 101 samples covered 50 DRB alleles distributed over 37 different haplotypes as defined by exon 2 sequence-based typing. These haplotypes could be refined into 105 haplotypes by DRB-STR typing. Thus, discrimination of exon 2-identical DRB alleles was feasible, as well as the exact description of three different crossing-over events that resulted in the generation of hybrid DR region configurations. This typing procedure appears to be a quick and highly robust technique that can easily be performed by different laboratories, even without experience in microsatellite typing; thus, it is suitable for a variety of researchers in diverse research areas.


Assuntos
Antígenos HLA-DR/genética , Haplótipos , Teste de Histocompatibilidade/métodos , Repetições de Microssatélites/genética , Animais , Evolução Molecular , Humanos
9.
Tissue Antigens ; 72(5): 499-500, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18937795

RESUMO

Sequencing analysis of exons 1-3 of the human leukocyte antigen (HLA)-C gene showed a novel allele, HLA-Cw*0617. While the amino acid sequence is identical with the HLA-Cw*060201 allele, the leader peptide differs in three amino acids.


Assuntos
Éxons/genética , Antígenos HLA-C/genética , Alelos , Sequência de Bases , Humanos , Dados de Sequência Molecular , Alinhamento de Sequência
10.
HLA ; 90(1): 32-35, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28417556

RESUMO

Antibody identification by a bead array assay in a kidney patient revealed several HLA-specific antibodies including one directed against the HLA-B7 antigen. Low-resolution typing of the patient indicated the presence of an HLA-B*07 allele. To rule out an HLA-specific autoantibody the HLA-typing of the patient was further refined by nucleotide sequencing on a next-generation sequencing platform and eventually showed an HLA-B*39:01:01:03 and HLA-B*07:181N genotype. Thereby the allospecific nature of the antibody was proven. The HLA-B7-specific antibody could be explained by an immunization during the first kidney-transplantation in 1996 with an HLA-B*07 positive donor. When assessing the plausibility of antibodies, the presence of nonexpressed alleles should be taken into consideration.


Assuntos
Alelos , Antígeno HLA-B39/genética , Antígeno HLA-B7/genética , Isoanticorpos/genética , Transplante de Rim/métodos , Transplantados , Adulto , Sequência de Bases , Feminino , Expressão Gênica , Genótipo , Antígeno HLA-B39/imunologia , Antígeno HLA-B7/imunologia , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Reação em Cadeia da Polimerase , Isoformas de Proteínas/genética , Isoformas de Proteínas/imunologia , Alinhamento de Sequência , Análise de Sequência de DNA , Doadores de Tecidos , Transplante Homólogo
11.
Bone Marrow Transplant ; 35(1): 57-62, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15531903

RESUMO

There is consensus that matching of unrelated donors (URD) and patients for HLA class II alleles improves the outcome of hematopoietic stem cell transplantation (HSCT). However, the significance of HLA class I allelic mismatches for transplant outcome is under discussion and reports on long-term effects like chronic graft-versus-host disease (GVHD) are rare. Thus, we investigated the association of human leukocyte antigen (HLA) class I allele mismatches and outcome in 144 patients given HSCT from URD who were matched for HLA-DRB1, DRB3/4/5, and DQB1 alleles. The risk of chronic GVHD was significantly increased in patients with class I mismatched donors, the mismatch either detected by low- or high-resolution typing. A single HLA class I allele mismatch significantly increased the risk of chronic GVHD in multivariate analysis. Overall survival was significantly reduced in patient/donor pairs with more than one-allele class I mismatch. Thus, selection of unrelated donors for transplantation should be based on high-resolution HLA class I typing.


Assuntos
Doença Enxerto-Hospedeiro , Antígenos HLA/biossíntese , Transplante de Células-Tronco Hematopoéticas/métodos , Adolescente , Adulto , Idoso , Alelos , Doadores de Sangue , Incompatibilidade de Grupos Sanguíneos , Feminino , Genes MHC Classe I , Genes MHC da Classe II , Sobrevivência de Enxerto , Neoplasias Hematológicas/mortalidade , Neoplasias Hematológicas/terapia , Células-Tronco Hematopoéticas/imunologia , Teste de Histocompatibilidade , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
12.
Transplantation ; 55(4): 778-81, 1993 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-8097342

RESUMO

Recipients (4076) and donors (3325) of kidney transplants performed at 110 transplant centers were typed for HLA-DRB by the DNA RFLP method. The discrepancy rate of replicate samples distributed among 8 participating laboratories was a low 2.6%. The discrepancy rate between RFLP-DRB and serological HLA-DR typings was 25.0% for organ donors and 27.6% for kidney recipients. Discrepancy rates at the different transplant centers ranged from 9.7% to 86.7%. The discrepancies consisted of antigens being incorrectly interpreted by serology (16.8%), and of serological "blanks" turning out to be definable alleles by the DNA method (10.8%). The alleles that were mainly affected by discrepancies were DR1, DR8, DR10, DR12, DR13, DR14, DR16, DR17.2, and DR18.


Assuntos
Antígenos HLA-DR/análise , Transplante de Rim/imunologia , Alelos , DNA/análise , Antígenos HLA-DR/genética , Teste de Histocompatibilidade , Homozigoto , Humanos , Polimorfismo de Fragmento de Restrição , Controle de Qualidade
13.
Transplantation ; 55(4): 782-5, 1993 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-7682736

RESUMO

The effect of matching for HLA-DR antigens was analyzed retrospectively in 3455 cadaver kidney transplants that were typed by the DNA-RFLP method. HLA-DR matching improved the one-year graft survival rate significantly (P < 0.01). Importantly, in 718 first transplants in which the number of mismatches assigned by serological typing was different from that assigned by DNA typing, only the DNA results showed a significant impact of matching on graft outcome (P = 0.03). These results demonstrate that DNA typing is clinically relevant. We were unable to confirm that the HLA-DR6 specificity or the DR6-split DRB1*1302 are associated with poor graft survival.


Assuntos
Antígenos HLA-DR/análise , Transplante de Rim/imunologia , Cadáver , DNA/análise , Epitopos , Antígenos HLA-DR/imunologia , Teste de Histocompatibilidade , Humanos , Polimorfismo de Fragmento de Restrição
14.
Hum Immunol ; 41(4): 280-4, 1994 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-7883595

RESUMO

CCLE, a disease entity at the benign end of the lupus spectrum, is characterized by marked photosensitivity and skin lesions in sun-exposed areas. The histopathology of lesions resembles hypersensitivity type IV reactions. We have asked whether an association between class II alleles and CCLE exists. RFLP analysis of HLA-DQA genes revealed a Taq I HLA-DQA1 allelic restriction fragment overrepresented in a group consisting of 26 patients as compared to healthy control individuals. This result was corroborated by typing with oligonucleotide probes. The presence of the DQA1*0102 allele in the patients' group led to a relative risk of 4.57, with a statistical significance of p < 0.05 after correction for 36 comparisons. Although not statistically significant, it is interesting that all patients possess in at least one of their HLA-DQA1 alleles a nucleotide sequence coding for the amino acid glutamine at position 34 of the DQ alpha molecule. The expected frequency of these alleles in the control population amounts to 82%. The HLA-DRB1*16 allele, which is found in linkage disequilibrium with the HLA-DQA1*0102 allele, is also observed at an increased frequency in the patient's group, though the association was not significant after correction for the number of comparisons. However, no associations of CCLE with alleles at the HLA-DPB1 locus was found. The association of CCLE with certain HLA class II alleles points to an involvement of HLA-DQ and/or -DR molecules in the pathogenesis of the disease. Alternatively, genetic loci in linkage disequilibrium may code for elements which contribute to the development of CCLE.(ABSTRACT TRUNCATED AT 250 WORDS)


Assuntos
Alelos , Antígenos HLA-D/genética , Lúpus Eritematoso Discoide/genética , Lúpus Eritematoso Discoide/patologia , Antígenos HLA-DP/genética , Cadeias beta de HLA-DP , Antígenos HLA-DQ/genética , Cadeias alfa de HLA-DQ , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Humanos , Sondas de Oligonucleotídeos , Polimorfismo de Fragmento de Restrição
15.
Hum Immunol ; 38(2): 127-31, 1993 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-7906259

RESUMO

Population studies suggest an association between RA and, depending on the ethnic background, HLA-DR1 and/or -DR4. One standard regimen for the treatment of RA is the use of gold compounds like SATM to arrest progression of the disease. In the present study, the immunogenetic background of RA patients developing side effects upon SATM treatment was determined. A total of 53 patients under SATM therapy were tested for their HLA-DRB and -DQ alleles by DNA typing; a significantly higher frequency of HLA-DR1 (p < 0.004, uncorrected) was observed in patients presenting with mucocutaneous side effects (MCT) when compared with patients without MCT. The RR was 6.85. Thus, HLA-DR1 seems to be a marker for the susceptibility of gold adverse reactions.


Assuntos
Artrite Reumatoide/genética , Tiomalato Sódico de Ouro/efeitos adversos , Antígeno HLA-DR1/fisiologia , Mucosa/efeitos dos fármacos , Dermatopatias/induzido quimicamente , Adulto , Artrite Reumatoide/tratamento farmacológico , Predisposição Genética para Doença , Antígenos HLA-DQ/fisiologia , Antígeno HLA-DR1/genética , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Dermatopatias/genética
16.
Hum Immunol ; 33(4): 259-65, 1992 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-1353487

RESUMO

The association of the human IgE response against Bet v I, the major allergen of birch pollen, and the HLA-DR and DQ phenotype was studied. Birch pollen allergic patients showed a typical case history, positive skin-prick test, and positive RAST with birch pollen extracts. They were divided into two groups. Group I (n = 37) consisted of individuals generating IgE antibodies that selectively reacted with Bet v I. Their serum IgE did not react with minor allergens from birch pollen as tested by immunoblot analysis, nor did they show a response against allergens from a panel of grass and other tree pollen or perennial allergens from animals and fungi as determined by skin-prick test. Patients belonging to group II (n = 34) possessed IgE reacting with Bet v I plus one or more additional allergens. The control group consisted of 637 healthy blood donors. Comparison of the frequencies of RFLP-defined HLA-DR and DQ alleles in patients and the control group revealed that the distribution of DRB3 alleles in group I patients differed significantly from that in the control group: A higher frequency of the DRw52a/c alleles in comparison to the control group (pcorr less than 0.02) was observed. In addition, alleles defined by nucleotide sequences coding for the amino acid sequence tyrosine-phenylalanine-histidine at positions 30-32 of the beta chain of DR molecules were found with a higher frequency in patient group I (pcorr less than 0.02), too. These alleles comprise DRw52a/c and some DRB1 alleles.(ABSTRACT TRUNCATED AT 250 WORDS)


Assuntos
Alelos , Alérgenos/imunologia , Antígenos HLA-DR/imunologia , Imunoglobulina E/sangue , Proteínas de Plantas/imunologia , Sequência de Aminoácidos , Reações Antígeno-Anticorpo , Antígenos de Plantas , Antígenos HLA-DQ/imunologia , Subtipos Sorológicos de HLA-DR , Cadeias HLA-DRB3 , Humanos , Fenótipo , Polimorfismo de Fragmento de Restrição , Teste de Radioalergoadsorção , Testes Cutâneos
17.
Wien Klin Wochenschr ; 103(5): 152-4, 1991.
Artigo em Alemão | MEDLINE | ID: mdl-1674392

RESUMO

The demonstration of restriction fragment length polymorphism (RFLP) of the highly polymorphic systems MS1, MS31, g3, and MS43 to detect mixed chimerism after bone marrow transplantation is discussed. Degree of heterozygosity, somatic stability and sensitivity are the parameters investigated to demonstrate the practicability of this method. Examples of mixed chimerism after bone marrow transplantation are shown.


Assuntos
Transplante de Medula Óssea , DNA/genética , Polimorfismo Genético , Quimera , Heterozigoto , Homozigoto , Humanos , Polimorfismo de Fragmento de Restrição , Transplante Homólogo
18.
Wien Klin Wochenschr ; 103(5): 155-7, 1991.
Artigo em Alemão | MEDLINE | ID: mdl-1674393

RESUMO

Determination of ethanol concentration in a blood sample drawn from a person who caused a serious car crash showed a level which was markedly above the upper limit tolerated legally i.e. 0.08%. At the court hearing the accused car driver challenged the drunken driving charge and claimed that there might have been a mix up of the blood samples, whereby his was replaced by another blood sample, since the tube containing his blood was not marked with his name. The blood sample had been stored without anticoagulants for about 6 months at -20 degrees C. Due to haemolysis it was impossible to determine conventional haemogenetic marker systems. We therefore tried to extract DNA from the blood sample and to determine the restriction fragment length polymorphism (RFLP) by means of five DNA probes recognizing highly polymorphic single-locus systems as described by Jeffreys et al. We analyzed the RFLP's of both the old blood sample and of fresh blood drawn from the accused car driver and we were able to identify the blood sample as certainly having been taken from the accused.


Assuntos
Impressões Digitais de DNA/métodos , DNA/genética , Etanol/sangue , Congelamento , Humanos , Polimorfismo de Fragmento de Restrição , Preservação Biológica/métodos
19.
Wien Klin Wochenschr ; 102(22): 673-6, 1990 Nov 23.
Artigo em Alemão | MEDLINE | ID: mdl-1980178

RESUMO

In cases of disputed parentage usually more than 20 polymorphic systems (red and white cell antigens, serum markers and enzyme markers) have to be analyzed using a battery of different techniques. A more recent method involving analysis of restriction fragment length polymorphism in highly polymorphic genes allows assignment of offspring to their parents. To test the latter method, 28 paternity cases were studied in parallel using conventional systems and detection of RFLPs of probes MS 1, MS 31, MS 43, and g 3, developed by Jeffreys et al. Furthermore, the cogency of exclusion of parentage, the average power of exclusion and the probability of parentage is calculated using published mutation rates and gene frequencies of the four probes. In conclusion, use of the four gene probes has both theoretically and practically turned out to be a powerful method for parentage testing.


Assuntos
Antígenos de Grupos Sanguíneos/genética , Marcadores Genéticos , Paternidade , Frequência do Gene , Humanos , Mutação , Polimorfismo de Fragmento de Restrição
20.
Bone Marrow Transplant ; 47(2): 172-80, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21460872

RESUMO

Between 1988 and 2007, international searches for matched unrelated donors (MUDs) were performed for 1586 Austrian patients. Between 2004 and 2007, a MUD was identified for 76.7% of the patients. Between 1996 and 2003, a donor was identified for 71.3% of the patients, and between 1988 and 1995, only for 53.4% of the patients. Search times of successful searches decreased from 7.7 months in the first period to 1.7 months in the period from 2004 to 2007. However, transplants were not performed in all cases in which a donor was found: only in 61.6% of the patients between 2004 and 2007, in 53.4% between 1996 and 2003 and in 29.6% between 1988 and 1995. Multivariate analysis determined that having a common HLA type was the most important variable impacting on finding a MUD for a patient. Factors that most strongly influence a patient's access to transplant were the patient's European origin and a short time between diagnosis and start of donor search. The strongest factor for both finding a donor and being transplanted was a search being performed during more recent years: patients' chances increased from year to year.


Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Doadores Vivos/provisão & distribuição , Obtenção de Tecidos e Órgãos/métodos , Doadores não Relacionados/provisão & distribuição , Adulto , Áustria , Criança , Feminino , Antígenos HLA/genética , Antígenos HLA/imunologia , Humanos , Doadores Vivos/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Fenótipo , Doadores não Relacionados/estatística & dados numéricos
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