Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
Transfus Med Hemother ; 50(4): 286-293, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37767276

RESUMO

Introduction: Regular whole blood donors often suffer from iron deficiency (ID) or iron deficiency anemia due to the loss of 200-300 mg of iron with each donation. Hemoglobin (Hb) as donor eligibility criterion reflects iron stores only poorly. ID in blood donors is typically prevented or treated with orally administered ferrous salts, which frequently cause gastrointestinal side effects. A high daily oral iron dose is counterproductive due to hepcidin upregulation. Oral sucrosomial iron (sucriron) is encapsulated ferric pyrophosphate that may be an option for blood donors due to its supposed high bioavailability and good tolerability. Methods: This monocentric single-cohort pilot study included fifty whole blood donors (divided into premenopausal women, postmenopausal women, and men) who did not meet Hb donation criteria. Participants aged 18-65 years with ferritin <30 ng/mL and venous Hb <12.5 g/dL in women and Hb <13.5 g/dL in men received oral sucriron (30 mg iron) for 90-120 days. Primary endpoints were the increase of Hb and ferritin. Results: Forty-seven participants completed the study. With the limitation that no control group was included, there was a substantial overall median increase of 0.94 g/dL Hb and 4.97 ng/mL ferritin (standardized on 90 days of iron intake). These value improvements were likewise observed in each of the subgroups. sucriron was very well tolerated, with almost no gastrointestinal side effects identified. Conclusion: A clear increase of Hb and ferritin was observed after the intake of sucriron, so it may be a reasonable and useful alternative to traditional oral iron therapy. The ease of administration, pleasant taste, dietary supplement status, and, most importantly, good tolerability highlight the value of sucriron supplementation.

2.
Transfusion ; 60(9): 2058-2066, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32619068

RESUMO

BACKGROUND: Pathogen reduction (PR) of platelet concentrates (PCs) contributes to the safety of platelet (PLT) transfusion by reducing the risk of transfusion-transmitted infections and transfusion-associated graft-versus-host disease. In vitro quality of pathogen-reduced double-dose PC (PR-PC) made of eight whole blood (WB)-derived buffy coats (BCs) were evaluated. METHODS: Eight small-volume WB BCs from donors with at least 200 × 109 PLT/L were pooled with an additive solution to produce double-dose PCs (DD-PCs), which were treated with amotosalen/ultraviolet A light in a dual storage processing set, yielding 2 units of PR-PC. Quality controls were undertaken as per European Directive for the Quality of Medicines (EDQM) guidelines. PLT recovery rates were measured. Production costs and savings were compared over the 3 years before and after PR implementation. RESULTS: In the pre-PR period, 19 666 PCs were produced, compared to 17 307 PCs in the PR period. Single BC in the PR period had 41 ± 2 mL, hematocrit 0.39 ± 0.04 and 1.06 ± 0.18 × 1011 PLTs, and showed a recovery of 91% ± 8%. After pooling, separation, PR treatment of DD-PC, and splitting, each single PC had 189 ± 6 mL with 2.52 ± 0.34 × 1011 PLTs, compared to 2.48 ± 0.40 in the pre-PR period. The PLT recovery rate after PR was 87% ± 14%. EDQM requirements were met. An increase of about €12 (+7.5%) per PC from the pre-PR to the PR period was identified. CONCLUSION: A new production method resulting in two PR-PCs made from pools of 8 BCs with use of one PR set was successfully introduced, and our experience of nearly 3 years demonstrated the high efficacy and in vitro quality of the PR-PCs obtained.


Assuntos
Buffy Coat , Preservação de Sangue , Segurança do Sangue , Desinfecção , Furocumarinas/farmacologia , Raios Ultravioleta , Furocumarinas/economia , Humanos , Transfusão de Plaquetas , Controle de Qualidade
3.
Transfusion ; 60(7): 1564-1572, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32500601

RESUMO

BACKGROUND: Blood group A and B antigens are synthesized by glycosyltransferases regulated by a complex molecular genetic background. A multibase deletion in the ABO gene was identified in two related blood donors. To define its hereditary character and to evaluate genotype-phenotype associations, a detailed study including 30 family members was conducted. METHODS AND MATERIALS: ABO phenotyping was performed with agglutination techniques and adsorption-elution tests. The secretor status was determined. Allele-specific sequencing of ABO and genotyping of family members by a mutation-specific polymerase chain reaction were carried out. Functional analysis included cloning of complementary DNA and transfection experiments in HeLa cells. The antigen expression was investigated by flow cytometry and adsorption-elution method. RESULTS: Sequencing analysis revealed a 24-bp deletion in Exon 5 and the adjacent intronic region of ABO. The alteration was inherited by 16 family members. Nine of them being heterozygous for the mutated allele failed to express A antigen on their erythrocytes as found by routine typing. In particular samples, however, adsorption-elution studies indicated inconclusive results. HeLa cells transfected with aberrant gene transcripts did not express blood group antigen A. CONCLUSION: The variation causes defects in messenger RNA splicing, most likely inactivating the transferase as observed by serological typing and in vitro expression analysis. These data suggest a novel mechanism associated with blood group O and extend the knowledge of exceptionally rare ABO splice site mutations and deletions. With increased understanding of the molecular bases of ABO, the diagnostics may be further enhanced to ensure the safest possible use of the blood supply.


Assuntos
Sistema ABO de Grupos Sanguíneos , Alelos , Sequência de Bases , Éxons , Sítios de Splice de RNA , Deleção de Sequência , Sistema ABO de Grupos Sanguíneos/biossíntese , Sistema ABO de Grupos Sanguíneos/genética , Eritrócitos/citologia , Eritrócitos/metabolismo , Feminino , Células HeLa , Humanos , Masculino
4.
Transfus Med Hemother ; 47(3): 198-204, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32595424

RESUMO

BACKGROUND: Extracorporeal photopheresis is a therapy based on the induction of apoptosis to cells harvested from peripheral blood, followed by direct retransfusion. Currently, there are two approaches: inline procedures, where cell harvesting, 8-methoxypsoralen (8-MOP) incubation, and UV irradiation is performed with a single device, and offline procedures, with collection in one device, followed by 8-MOP incubation/UV irradiation using a second device. STUDY DESIGN AND METHODS: In a prospective crossover study, we compared an inline (Cellex, Therakos) with an established offline procedure (Optia, Terumo, and MacoGenic G2, Macopharma) in 6 patients, focusing on cell composition and apoptosis induction after 24 h. In total, 32 photopheresis treatments per device were performed. RESULTS: We observed an overall 2-fold higher number of apoptotic "target" cells for each patient with offline treatment. All yields were stratified per patient. Yields were compared as ratio offline/inline for CD3+ (2.5-fold), CD4+ (2-fold), CD8+ (2.8-fold), CD56+ (2.8-fold), CD19+ (1.8-fold), CD15+ (0.5-fold), and CD14+ (2.2-fold) cells. Apoptosis induction was measured after 24 h with Annexin V/7-AAD for early and late apoptosis rates of CD3+ (CD4+, CD8+) and CD56+ cells. CD3+ cells of the inline treatment had an average of 88% (26% early, 62% late) of apoptotic cells compared to 75% (34% early, 41% late) in the offline treatment. Procedure duration ranged from 80 to 100 min inline, with a maximum of 1,500 mL processed blood, and 125-140 min offline, with at least 3,000 mL processed blood, depending on blood flow. Average hematocrit levels of the products were 2.7% inline versus 1.7% offline. CONCLUSIONS: The offline procedure, as established in our department, provides more apoptotic cells for treatment. The increased number of mononuclear cells collected outweighs a slightly reduced apoptosis rate after 24 h in comparison to the inline procedure. Besides this, the final decision for one or the other procedure has to take into account additional aspects, such as peripheral white blood cell count, hematocrit, and weight of the patient, required before apheresis, extracorporeal volume, and, last but not least, overall costs. The final criterion, however, has to be the reported clinical efficacy of the system applied.

5.
Nucleic Acids Res ; 40(Database issue): D1023-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22084196

RESUMO

Analogous to human leukocyte antigens, blood group antigens are surface markers on the erythrocyte cell membrane whose structures differ among individuals and which can be serologically identified. The Blood Group Antigen Gene Mutation Database (BGMUT) is an online repository of allelic variations in genes that determine the antigens of various human blood group systems. The database is manually curated with allelic information collated from scientific literature and from direct submissions from research laboratories. Currently, the database documents sequence variations of a total of 1251 alleles of all 40 gene loci that together are known to affect antigens of 30 human blood group systems. When available, information on the geographic or ethnic prevalence of an allele is also provided. The BGMUT website also has general information on the human blood group systems and the genes responsible for them. BGMUT is a part of the dbRBC resource of the National Center for Biotechnology Information, USA, and is available online at http://www.ncbi.nlm.nih.gov/projects/gv/rbc/xslcgi.fcgi?cmd=bgmut. The database should be of use to members of the transfusion medicine community, those interested in studies of genetic variation and related topics such as human migrations, and students as well as members of the general public.


Assuntos
Alelos , Antígenos de Grupos Sanguíneos/genética , Bases de Dados Genéticas , Variação Genética , Humanos
6.
Nucleic Acids Res ; 40(Database issue): D13-25, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22140104

RESUMO

In addition to maintaining the GenBank® nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data made available through the NCBI Website. NCBI resources include Entrez, the Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central (PMC), Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Primer-BLAST, COBALT, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, dbVar, Epigenomics, Genome and related tools, the Map Viewer, Model Maker, Evidence Viewer, Trace Archive, Sequence Read Archive, BioProject, BioSample, Retroviral Genotyping Tools, HIV-1/Human Protein Interaction Database, Gene Expression Omnibus (GEO), Probe, Online Mendelian Inheritance in Animals (OMIA), the Molecular Modeling Database (MMDB), the Conserved Domain Database (CDD), the Conserved Domain Architecture Retrieval Tool (CDART), Biosystems, Protein Clusters and the PubChem suite of small molecule databases. Augmenting many of the Web applications are custom implementations of the BLAST program optimized to search specialized data sets. All of these resources can be accessed through the NCBI home page at www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados como Assunto , Bases de Dados Genéticas , Bases de Dados de Proteínas , Expressão Gênica , Genômica , Internet , Modelos Moleculares , National Library of Medicine (U.S.) , Publicações Periódicas como Assunto , PubMed , Alinhamento de Sequência , Análise de Sequência de DNA , Análise de Sequência de Proteína , Análise de Sequência de RNA , Bibliotecas de Moléculas Pequenas , Estados Unidos
7.
Transfus Med Hemother ; 41(5): 346-51, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25538536

RESUMO

The Blood group antigen Gene MUTation (BGMUT) database documents variations in genes of human blood group systems. In March 2014, the database, accessible at www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut, listed 1,545 alleles of 44 genes of 34 blood group systems. Besides allelic information, the BGMUT resource also presents comprehensive and current information on blood group systems. This review describes the database and notes its utility for the transfusion medicine and human genetics communities.

8.
Mol Genet Genomic Med ; 12(1): e2286, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37968878

RESUMO

BACKGROUND: Safe transfusion therapy requires accurate testing of blood donors and recipients to determine their ABO blood group compatibility. Genotyping does not always clarify serological blood typing discrepancies and conventional PCR methods are not suitable to identify ABO haplotypes. Therefore, an allele-specific long-range sequencing-based typing method was established. METHODS: Study samples (n = 100) and six patient samples were ABO phenotyped and screened for specific single nucleotide polymorphisms (SNP) in the ABO gene. Based on identified heterozygous SNPs in intron 1 (12897G>A), 2 (437C>T) or 4 (102C>A, 1511G>T) both ABO alleles were investigated separately using a high-fidelity long-range PCR system and Sanger sequencing. The alleles were correlated to the ABO phenotypes determined. RESULTS: Direct sequencing of allelic PCR products up to 6743 bases has been successful in discriminating common combinations of the ABO*A1.01, ABO*A2.01, ABO*B.01, ABO*O.01.01, ABO*O.01.02 and ABO*O.02.01 alleles. 10 out of 64 haplotypes were found to be not previously described. The uncommon ABO*AW.31.01 and the unusual O alleles ABO*O.05 and ABO*O.02.03 alleles were detected in patient samples, resolving the initial inconclusive serologic ABO typing results. CONCLUSION: This method is an effective tool for analyzing ABO haplotypes. Applicable for ABO molecular diagnostics and immunohematology research it may help to improve pre-transfusion blood type testing.


Assuntos
Sistema ABO de Grupos Sanguíneos , Humanos , Alelos , Haplótipos , Genótipo , Fenótipo , Sistema ABO de Grupos Sanguíneos/genética
9.
Nucleic Acids Res ; 39(Database issue): D38-51, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21097890

RESUMO

In addition to maintaining the GenBank® nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data made available through the NCBI Web site. NCBI resources include Entrez, the Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central (PMC), Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Primer-BLAST, COBALT, Electronic PCR, OrfFinder, Splign, ProSplign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, dbVar, Epigenomics, Cancer Chromosomes, Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Trace Archive, Sequence Read Archive, Retroviral Genotyping Tools, HIV-1/Human Protein Interaction Database, Gene Expression Omnibus (GEO), Entrez Probe, GENSAT, Online Mendelian Inheritance in Man (OMIM), Online Mendelian Inheritance in Animals (OMIA), the Molecular Modeling Database (MMDB), the Conserved Domain Database (CDD), the Conserved Domain Architecture Retrieval Tool (CDART), IBIS, Biosystems, Peptidome, OMSSA, Protein Clusters and the PubChem suite of small molecule databases. Augmenting many of the Web applications are custom implementations of the BLAST program optimized to search specialized data sets. All of these resources can be accessed through the NCBI home page at www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados Genéticas , Bases de Dados de Proteínas , Expressão Gênica , Genômica , National Library of Medicine (U.S.) , Estrutura Terciária de Proteína , PubMed , Alinhamento de Sequência , Análise de Sequência de DNA , Análise de Sequência de RNA , Software , Integração de Sistemas , Estados Unidos
10.
Cancer Med ; 12(2): 1237-1246, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35762175

RESUMO

BACKGROUND: Perioperatively administered (leukocyte reduced) allogeneic red blood cell transfusions (lrRBCTs) may lead to transfusion-related immunomodulation and reduced overall survival (OS) in cancer patients. Herein, the effect of lrRBCT on local recurrence (LR), distant metastasis (DM), and OS in soft tissue sarcoma (STS) patients was analysed. METHODS: Retrospective study on 432 STS patients (mean age: 60.0 ± 17.8 years; 46.1% female), surgically treated at a tertiary tumour centre. Uni- and multivariate survival models were calculated to analyse impact of perioperative lrRBCTs on LR, DM, OS. RESULTS: Perioperatively, 75 patients (17.4%) had received lrRBCTs. Older patients, deep, large, lower limb STS rather required lrRBCTs (all p < 0.05). No significant association between lrRBCT administration and LR- (p = 0.582) or DM-risk (p = 0.084) was observed. LrRBCT was associated with worse OS in univariate analysis (HR: 2.222; p < 0.001), with statistical significance lost upon multivariate analysis (HR: 1.658; p = 0.059; including age, histology, size, grading, amputation, depth). Adding preoperative haemoglobin in subgroup of 220 patients with laboratory parameters revealed significant negative impact of low haemoglobin on OS (p = 0.014), whilst effect of lrRBCT was further diminished (p = 0.167). CONCLUSION: Unfavourable prognostic factors prevail in STS patients requiring lrRBCTs. Low haemoglobin levels rather than lrRBCT seem to reduce OS.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Transfusão de Eritrócitos/efeitos adversos , Estudos Retrospectivos , Prognóstico , Sarcoma/patologia , Neoplasias de Tecidos Moles/terapia , Recidiva Local de Neoplasia/patologia
11.
Hum Mol Genet ; 19(4): 707-19, 2010 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-19933168

RESUMO

We describe a novel approach to genetic association analyses with proteins sub-divided into biologically relevant smaller sequence features (SFs), and their variant types (VTs). SFVT analyses are particularly informative for study of highly polymorphic proteins such as the human leukocyte antigen (HLA), given the nature of its genetic variation: the high level of polymorphism, the pattern of amino acid variability, and that most HLA variation occurs at functionally important sites, as well as its known role in organ transplant rejection, autoimmune disease development and response to infection. Further, combinations of variable amino acid sites shared by several HLA alleles (shared epitopes) are most likely better descriptors of the actual causative genetic variants. In a cohort of systemic sclerosis patients/controls, SFVT analysis shows that a combination of SFs implicating specific amino acid residues in peptide binding pockets 4 and 7 of HLA-DRB1 explains much of the molecular determinant of risk.


Assuntos
Variação Genética , Antígenos HLA/genética , Escleroderma Sistêmico/genética , Antígenos HLA/química , Antígenos HLA-DR/química , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Humanos , Conformação Molecular
12.
Nucleic Acids Res ; 38(Database issue): D5-16, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19910364

RESUMO

In addition to maintaining the GenBank nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data made available through the NCBI web site. NCBI resources include Entrez, the Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central, Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, Splign, Reference Sequence, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Trace Archive, Sequence Read Archive, Retroviral Genotyping Tools, HIV-1/Human Protein Interaction Database, Gene Expression Omnibus, Entrez Probe, GENSAT, Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling Database, the Conserved Domain Database, the Conserved Domain Architecture Retrieval Tool, Biosystems, Peptidome, Protein Clusters and the PubChem suite of small molecule databases. Augmenting many of the web applications are custom implementations of the BLAST program optimized to search specialized data sets. All these resources can be accessed through the NCBI home page at www.ncbi.nlm.nih.gov.


Assuntos
Biologia Computacional/métodos , Bases de Dados Genéticas , Bases de Dados de Ácidos Nucleicos , Algoritmos , Animais , Biologia Computacional/tendências , Bases de Dados de Proteínas , Genoma Bacteriano , Genoma Viral , Humanos , Armazenamento e Recuperação da Informação/métodos , Internet , National Institutes of Health (U.S.) , National Library of Medicine (U.S.) , Software , Estados Unidos
13.
Nucleic Acids Res ; 37(Database issue): D5-15, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18940862

RESUMO

In addition to maintaining the GenBank nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data made available through the NCBI web site. NCBI resources include Entrez, the Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central, Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Clusters of Orthologous Groups (COGs), Retroviral Genotyping Tools, HIV-1/Human Protein Interaction Database, Gene Expression Omnibus (GEO), Entrez Probe, GENSAT, Online Mendelian Inheritance in Man (OMIM), Online Mendelian Inheritance in Animals (OMIA), the Molecular Modeling Database (MMDB), the Conserved Domain Database (CDD), the Conserved Domain Architecture Retrieval Tool (CDART) and the PubChem suite of small molecule databases. Augmenting many of the web applications is custom implementation of the BLAST program optimized to search specialized data sets. All of the resources can be accessed through the NCBI home page at www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados Genéticas , Expressão Gênica , Genes , Genômica , Genótipo , National Library of Medicine (U.S.) , Fenótipo , Estrutura Terciária de Proteína , Proteômica , PubMed , Homologia de Sequência , Integração de Sistemas , Estados Unidos
14.
Clin Trials ; 7(1 Suppl): S75-87, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20595243

RESUMO

BACKGROUND: Although human leukocyte antigen (HLA) DQ and DR loci appear to confer the strongest genetic risk for type 1 diabetes, more detailed information is required for other loci within the HLA region to understand causality and stratify additional risk factors. The Type 1 Diabetes Genetics Consortium (T1DGC) study design included high-resolution genotyping of HLA-A, B, C, DRB1, DQ, and DP loci in all affected sibling pair and trio families, and cases and controls, recruited from four networks worldwide, for analysis with clinical phenotypes and immunological markers. PURPOSE: In this article, we present the operational strategy of training, classification, reporting, and quality control of HLA genotyping in four laboratories on three continents over nearly 5 years. METHODS: Methods to standardize HLA genotyping at eight loci included: central training and initial certification testing; the use of uniform reagents, protocols, instrumentation, and software versions; an automated data transfer; and the use of standardized nomenclature and allele databases. We implemented a rigorous and consistent quality control process, reinforced by repeated workshops, yearly meetings, and telephone conferences. RESULTS: A total of 15,246 samples have been HLA genotyped at eight loci to four-digit resolution; an additional 6797 samples have been HLA genotyped at two loci. The genotyping repeat rate decreased significantly over time, with an estimated unresolved Mendelian inconsistency rate of 0.21%. Annual quality control exercises tested 2192 genotypes (4384 alleles) and achieved 99.82% intra-laboratory and 99.68% inter-laboratory concordances. LIMITATIONS: The chosen genotyping platform was unable to distinguish many allele combinations, which would require further multiple stepwise testing to resolve. For these combinations, a standard allele assignment was agreed upon, allowing further analysis if required. CONCLUSIONS: High-resolution HLA genotyping can be performed in multiple laboratories using standard equipment, reagents, protocols, software, and communication to produce consistent and reproducible data with minimal systematic error. Many of the strategies used in this study are generally applicable to other large multi-center studies.


Assuntos
Diabetes Mellitus Tipo 1/genética , Genótipo , Antígenos HLA/genética , Cooperação Internacional , Algoritmos , Bioensaio , Técnicas de Laboratório Clínico , Diabetes Mellitus Tipo 1/epidemiologia , Educação , Saúde Global , Antígenos HLA/análise , Humanos , Linhagem , Polimorfismo Genético , Controle de Qualidade , Medição de Risco
15.
Nucleic Acids Res ; 36(Database issue): D13-21, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18045790

RESUMO

In addition to maintaining the GenBank(R) nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data available through NCBI's web site. NCBI resources include Entrez, the Entrez Programming Utilities, My NCBI, PubMed, PubMed Central, Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link, Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Entrez Genome, Genome Project and related tools, the Trace, Assembly, and Short Read Archives, the Map Viewer, Model Maker, Evidence Viewer, Clusters of Orthologous Groups, Influenza Viral Resources, HIV-1/Human Protein Interaction Database, Gene Expression Omnibus, Entrez Probe, GENSAT, Database of Genotype and Phenotype, Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling Database, the Conserved Domain Database, the Conserved Domain Architecture Retrieval Tool and the PubChem suite of small molecule databases. Augmenting the web applications are custom implementations of the BLAST program optimized to search specialized data sets. These resources can be accessed through the NCBI home page at www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados Genéticas , National Library of Medicine (U.S.) , Animais , Bases de Dados de Ácidos Nucleicos , Expressão Gênica , Genômica , Genótipo , Humanos , Internet , Modelos Moleculares , Fenótipo , Proteômica , Alinhamento de Sequência , Estados Unidos
16.
Transfusion ; 49(10): 2097-108, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19572973

RESUMO

BACKGROUND: Genes for fucosyltransferases 1 (FUT1:H), 2 (FUT2:Secretor), and 3 (FUT3:Lewis) encode enzymes crucial for ABH and Lewis blood group antigen synthesis. They are highly polymorphic and ethnically and geographically specific. STUDY DESIGN AND METHODS: Genetic variations and allele frequencies of FUT1, FUT2, and FUT3 encoding regions and flanking sequences were analyzed in 100 Styrian blood donors by systematic sequencing. Haplotypes were verified with sequence-specific primers. To identify discrepancies, serologically determined ABO and Lewis blood groups were correlated to respective genotypes. RESULTS: Two novel FUT1 alleles were defined by 9C>T (silent) and 991C>A (P331T) mutations, the latter located in the catalytic domain of the enzyme. Five new alleles of FUT2 were found: three were characterized by new variants and two resulted from new combinations of known polymorphisms. The new 412G>A (G138S) mutation also is located in the catalytic domain. A new nonsecretor allele, based on the presence of 428G>A (nonsense), was found. Another FUT2 allele may have resulted from an intragenic crossover event. FUT3 analysis revealed seven novel alleles, partly based on the new mutations 41G>A (R14H), 1060C>G (R354G), 735G>C (silent), and 882C>T (silent). While 41G>A is placed in the cytoplasmic domain and functional, 1060C>G is placed in the catalytic domain. CONCLUSION: Multiple common and sporadic sequence variations including 14 new alleles at FUT1, FUT2, and FUT3 loci were identified. Four novel mutations result in amino acid substitution in the protein. Three of them are predicted to have adverse effects on the enzyme activity. A novel nonsecretor allele was found.


Assuntos
Doadores de Sangue , Fucosiltransferases/genética , Alelos , Áustria , Genótipo , Haplótipos , Humanos , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA , Galactosídeo 2-alfa-L-Fucosiltransferase
17.
Nucleic Acids Res ; 34(Database issue): D173-80, 2006 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-16381840

RESUMO

In addition to maintaining the GenBank nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological data made available through NCBI's Web site. NCBI resources include Entrez, the Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central, Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Clusters of Orthologous Groups, Retroviral Genotyping Tools, HIV-1, Human Protein Interaction Database, SAGEmap, Gene Expression Omnibus, Entrez Probe, GENSAT, Online Mendelian Inheritance in Man, Online Mendelian Inheritance in Animals, the Molecular Modeling Database, the Conserved Domain Database, the Conserved Domain Architecture Retrieval Tool and the PubChem suite of small molecule databases. Augmenting many of the Web applications are custom implementations of the BLAST program optimized to search specialized datasets. All of the resources can be accessed through the NCBI home page at: http://www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados Genéticas , National Library of Medicine (U.S.) , Bases de Dados de Ácidos Nucleicos , Bases de Dados de Proteínas , Regulação da Expressão Gênica , Genes , Genômica , Humanos , Internet , PubMed , Alinhamento de Sequência , Análise de Sequência de DNA , Software , Estados Unidos
18.
Nucleic Acids Res ; 33(Database issue): D39-45, 2005 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-15608222

RESUMO

In addition to maintaining the GenBank nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides data retrieval systems and computational resources for the analysis of data in GenBank and other biological data made available through NCBI's website. NCBI resources include Entrez, Entrez Programming Utilities, PubMed, PubMed Central, Entrez Gene, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Clusters of Orthologous Groups (COGs), Retroviral Genotyping Tools, HIV-1/Human Protein Interaction Database, SAGEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Modeling Database (MMDB), the Conserved Domain Database (CDD) and the Conserved Domain Architecture Retrieval Tool (CDART). Augmenting many of the Web applications are custom implementations of the BLAST program optimized to search specialized datasets. All of the resources can be accessed through the NCBI home page at http://www.ncbi.nlm.nih.gov.


Assuntos
Bases de Dados Genéticas , National Library of Medicine (U.S.) , Sequência de Aminoácidos , Animais , Biologia Computacional , Sequência Conservada , Bases de Dados Factuais , Perfilação da Expressão Gênica , Genes , Genômica , Humanos , Modelos Moleculares , Fenótipo , Mapeamento de Interação de Proteínas , Estrutura Terciária de Proteína , Alinhamento de Sequência , Software , Estados Unidos
19.
Nucleic Acids Res ; 32(Web Server issue): W173-5, 2004 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-15215374

RESUMO

The dbMHC resource (http://www.ncbi.nlm.nih.gov/mhc/sbt.cgi?cmd=main) at the National Center for Biotechnology Information (NCBI) has developed an online tool for evaluating the allelic composition of sequencing-based typing (SBT) results of cDNA or genomic sequences. Whether the samples are heterozygous, haploid or a combination of the two, they can be compared with two up-to-date databases of all known alleles of several human leukocyte antigen (HLA) and killer cell immunoglobulin-like receptor (KIR) loci. The results of the submission are returned as a table of potential allele hits, along with the respective base changes and an interactive sequence viewer for close examination of the alignment.


Assuntos
Antígenos HLA/genética , Polimorfismo Genético , Receptores Imunológicos/genética , Software , Algoritmos , Alelos , Impressões Digitais de DNA , Bases de Dados de Ácidos Nucleicos , Internet , Receptores KIR , Alinhamento de Sequência , Análise de Sequência de DNA
20.
Nucleic Acids Res ; 32(Database issue): D35-40, 2004 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-14681353

RESUMO

In addition to maintaining the GenBank(R) nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides data analysis and retrieval resources for the data in GenBank and other biological data made available through NCBI's website. NCBI resources include Entrez, PubMed, PubMed Central, LocusLink, the NCBI Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosome Aberration Project (CCAP), Entrez Genomes and related tools, the Map Viewer, Model Maker, Evidence Viewer, Clusters of Orthologous Groups (COGs) database, Retroviral Genotyping Tools, SARS Coronavirus Resource, SAGEmap, Gene Expression Omnibus (GEO), Online Mendelian Inheritance in Man (OMIM), the Molecular Modeling Database (MMDB), the Conserved Domain Database (CDD) and the Conserved Domain Architecture Retrieval Tool (CDART). Augmenting many of the web applications are custom implementations of the BLAST program optimized to search specialized data sets. All of the resources can be accessed through the NCBI home page at: http://www.ncbi.nlm.nih.gov.


Assuntos
Biologia Computacional , Bases de Dados Factuais , National Institutes of Health (U.S.) , Animais , Classificação , Perfilação da Expressão Gênica , Genes , Genoma , Genômica , Humanos , Armazenamento e Recuperação da Informação , Fases de Leitura Aberta , Polimorfismo Genético , PubMed , Software , Estados Unidos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA