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  1 / 97973 MEDLINE  
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[PMID]:29460640
[Au] Autor:Sullivan A; Watkinson J; Waddington J; Park BK; Naisbitt DJ
[Ad] Endereço:a MRC Centre for Drug Safety Science, Department of Molecular and Clinical Pharmacology , The University of Liverpool , Liverpool , England.
[Ti] Título:Implications of HLA-allele associations for the study of type IV drug hypersensitivity reactions.
[So] Source:Expert Opin Drug Metab Toxicol;14(3):261-274, 2018 Mar.
[Is] ISSN:1744-7607
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Type IV drug hypersensitivity remains an important clinical problem and an obstacle to the development of new drugs. Several forms of drug hypersensitivity are associated with expression of specific HLA alleles. Furthermore, drug-specific T-lymphocytes have been isolated from patients with reactions. Despite this, controversy remains as to how drugs interact with immune receptors to stimulate a T-cell response. Areas covered: This article reviews the pathways of T-cell activation by drugs and how the ever increasing number of associations between expression of HLA alleles and susceptibility to hypersensitivity is impacting on our research effort to understanding this form of iatrogenic disease. Expert opinion: For a drug to activate a T-cell, a complex is formed between HLA molecules, an HLA binding peptide, the drug and the T-cell receptor. T-cell responses can involve drugs and stable or reactive metabolites bound covalently or non-covalently to any component of this complex. Recent research has linked the HLA associations to the disease through the characterization of drug-specific T-cell responses restricted to specific alleles. However, there is now a need to identify the additional genetic or environment factors that determine susceptibility and use our increased knowledge to develop predictive immunogenicity tests that offer benefit to Pharma developing new drugs.
[Mh] Termos MeSH primário: Hipersensibilidade a Drogas/imunologia
Antígenos HLA/imunologia
Hipersensibilidade Tardia/induzido quimicamente
[Mh] Termos MeSH secundário: Alelos
Hipersensibilidade a Drogas/genética
Predisposição Genética para Doença
Seres Humanos
Hipersensibilidade Tardia/genética
Hipersensibilidade Tardia/imunologia
Ativação Linfocitária/efeitos dos fármacos
Ativação Linfocitária/imunologia
Linfócitos T/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (HLA Antigens)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180221
[St] Status:MEDLINE
[do] DOI:10.1080/17425255.2018.1441285


  2 / 97973 MEDLINE  
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[PMID]:29392424
[Au] Autor:Shahkarami S; Mehrasa R; Younesian S; Yaghmaie M; Chahardouli B; Vaezi M; Rezaei N; Nikbakht M; Alimoghaddam K; Ghavamzadeh A; Tavakkoly-Bazzaz J; Ghaffari SH
[Ad] Endereço:Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Título:Minimal residual disease (MRD) detection using rearrangement of immunoglobulin/T cell receptor genes in adult patients with acute lymphoblastic leukemia (ALL).
[So] Source:Ann Hematol;97(4):585-595, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:MRD detection with allele-specific oligonucleotide-quantitative polymerase chain reaction (ASO-qPCR) and using clone-specific immunoglobulin/T cell receptor rearrangements is considered as a powerful prognostic factor in acute lymphoblastic leukemia (ALL). In the present study, we evaluated an ASO-qPCR assay for MRD quantification in peripheral blood (PB) samples of adult patients with ALL. DNA was isolated from PB samples of patients with newly diagnosed ALL. They were first investigated by multiplex-PCR assay to identify V/J usage. An ASO-qPCR technique was then applied for 2.5-year monthly MRD quantification for detection of patient-specific Ig/TCR receptor rearrangements as a molecular target. From 98 patients who were diagnosed as ALL, 72 (73.5%) were enrolled in the present study for MRD detection. MRD was successfully quantified in patients with 1-month interval time. MRD level at the end of induction therapy up to day 88 was the only significant prognostic factor. Regarding MRD level, patients were categorized into two groups of low and high-risk. 2.5-year OS in all three time points (days 28, 58 and 88) were significantly lower in high-risk group (P < 0.008). The results of the 2.5-year MRD detection indicate that MRD level at the end of induction up to about 6 months after the first diagnosis was associated with clinical outcome. This study may highlight the usefulness of PB and the definitions of cut-off level for early prediction of relapse and for stratifying ALL patients. Short-interval time points and frequent PB sampling to monitor MRD level is suggested for early clinical relapse prediction and clinical management of the disease.
[Mh] Termos MeSH primário: Rearranjo Gênico do Linfócito T/efeitos dos fármacos
Quimioterapia de Indução
Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Alelos
Feminino
Seguimentos
Hospitais Universitários
Seres Humanos
Irã (Geográfico)
Masculino
Reação em Cadeia da Polimerase Multiplex
Proteínas de Neoplasias/química
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Neoplasia Residual/diagnóstico
Neoplasia Residual/genética
Neoplasia Residual/metabolismo
Neoplasia Residual/patologia
Oligonucleotídeos/química
Oligonucleotídeos/metabolismo
Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia
Prognóstico
Estudos Prospectivos
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Medição de Risco
Análise de Sobrevida
Carga Tumoral/efeitos dos fármacos
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neoplasm Proteins); 0 (Oligonucleotides)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-018-3230-z


  3 / 97973 MEDLINE  
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[PMID]:29391274
[Au] Autor:Chen YL; Li TJ; Hao Y; Wu BG; Li H; Geng N; Sun ZQ; Zheng LQ; Sun YX
[Ad] Endereço:Department of Cardiology, The First Hospital of China Medical University, Shenyang, Liaoning, PR China.
[Ti] Título:Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study.
[So] Source:Gene;651:79-85, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Corins are membrane-bound protease that regulates blood pressure by activating the natriuretic peptides. These pro-atrial natriuretic peptide convertases are essential for sodium homeostasis and normal blood pressure. CORIN variants have been identified in humans and other animals, but no studies of CORIN polymorphisms have been conducted in northeastern China. This study aims to investigate the association of 2 single nucleotide polymorphisms (SNPs) in CORIN (rs2271037 and rs3749585) with hypertension, as well as their potential interactions with some risk factors of hypertension in a Han population of northeastern China. A case-control study, including 402 patients with hypertension and 406 participants with normal blood pressure, was conducted in Liaoning province. SNP genotyping was carried out by high resolution melting (HRM) after polymerase chain reaction amplifications. Since rs3749585 is located in 3' untranslated region (UTR) of CORIN, in silico analysis was used to predict target micro RNAs on TargetScan, miRanda, and DIANA-microT. As a result, mutant T allele in rs2271037 (odds ratio [OR], 1.693; 95% confidence [CI], 1.528-1.877; p < 0.001) and C allele in rs3749585 (OR, 1.114; 95% CI 1.011-1.227; p = 0.029) increased the risk of hypertension, comparing with wild G allele and T allele, respectively. Patients with genotype TT (OR, 10.209; 95% CI, 6.414-16.250; p < 0.001) and GT (OR, 1.730; 95% CI, 1.226-2.443; p = 0.002) have higher risk of hypertension than those with genotype GG. SNP rs2271037 was significantly associated with susceptibility to hypertension in all genetic models (dominant model: OR, 2.879; 95% CI, 2.080-3.986; p < 0.001; recessive model: OR, 7.159; 95% CI, 4.779-10.724; p < 0.001; additive model: OR, 1.535; 95% CI, 1.163-2.027; p = 0.002). SNP rs3749585 was significantly correlated with hypertension susceptibility only in dominant model (OR, 1.533; 95% CI, 1.073-2.189; p = 0.019), but not in recessive model (OR, 1.220; 95% CI, 0.906-1.644; p = 0.191) or additive model (OR, 0.915; 95% CI, 0.694-1.205; p = 0.527). After adjusting for age, gender, body mass index (BMI), smoking, low-density lipoprotein cholesterol, and serum sodium level in logistic models, the same statistical results were obtained. Interaction study showed the association between CORIN polymorphisms and hypertension could be changed by overweight (BMI ≥ 25 kg/m ). In silico analyses implicated hsa-miR-495 as a target miRNA that potentially interacts with the 3' UTR of CORIN. In conclusion, polymorphisms of rs2271037 and rs3749585 in CORIN were significantly associated with hypertension in a Han population of northeastern China. The mutant-type T allele of rs2271037 and C allele of rs3749585 might increase the susceptibility to hypertension in this population.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Hipertensão/genética
Polimorfismo de Nucleotídeo Único
Serina Endopeptidases/genética
[Mh] Termos MeSH secundário: Alelos
Estudos de Casos e Controles
Feminino
Interação Gene-Ambiente
Estudos de Associação Genética
Predisposição Genética para Doença
Genótipo
Seres Humanos
Masculino
MicroRNAs/metabolismo
Meia-Idade
RNA Mensageiro/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs); 0 (RNA, Messenger); EC 3.4.21.- (CORIN protein, human); EC 3.4.21.- (Serine Endopeptidases)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE


  4 / 97973 MEDLINE  
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[PMID]:29381775
[Au] Autor:Sundaramoorthy J; Park GT; Mukaiyama K; Tsukamoto C; Chang JH; Lee JD; Kim JH; Seo HS; Song JT
[Ad] Endereço:School of Applied Biosciences, Kyungpook National University, Daegu, Republic of Korea.
[Ti] Título:Molecular elucidation of a new allelic variation at the Sg-5 gene associated with the absence of group A saponins in wild soybean.
[So] Source:PLoS One;13(1):e0192150, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In soybean, triterpenoid saponin is one of the major secondary metabolites and is further classified into group A and DDMP saponins. Although they have known health benefits for humans and animals, acetylation of group A saponins causes bitterness and gives an astringent taste to soy products. Therefore, several studies are being conducted to eliminate acetylated group A saponins. Previous studies have isolated and characterized the Sg-5 (Glyma.15g243300) gene, which encodes the cytochrome P450 72A69 enzyme and is responsible for soyasapogenol A biosynthesis. In this study, we elucidated the molecular identity of a novel mutant of Glycine soja, 'CWS5095'. Phenotypic analysis using TLC and LC-PDA/MS/MS showed that the mutant 'CWS5095' did not produce any group A saponins. Segregation analysis showed that the absence of group A saponins is controlled by a single recessive allele. The locus was mapped on chromosome 15 (4.3 Mb) between Affx-89193969 and Affx-89134397 where the previously identified Glyma.15g243300 gene is positioned. Sequence analysis of the coding region for the Glyma.15g243300 gene revealed the presence of four SNPs in 'CWS5095' compared to the control lines. One of these four SNPs (G1127A) leads to the amino acid change Arg376Lys in the EXXR motif, which is invariably conserved among the CYP450 superfamily proteins. Co-segregation analysis showed that the missense mutation (Arg376Lys) was tightly linked with the absence of group A saponins in 'CWS5095'. Even though Arg and Lys have similar chemical features, the 3D modelled protein structure indicates that the replacement of Arg with Lys may cause a loss-of-function of the Sg-5 protein by inhibiting the stable binding of a heme cofactor to the CYP72A69 apoenzyme.
[Mh] Termos MeSH primário: Alelos
Genes de Plantas
Saponinas/genética
Feijão de Soja/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Saponins)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180131
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0192150


  5 / 97973 MEDLINE  
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[PMID]:29372577
[Au] Autor:Mansouri F; Heydarzadeh R; Yousefi S
[Ad] Endereço:Department of Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
[Ti] Título:The association of interferon-gamma, interleukin-4 and interleukin-17 single-nucleotide polymorphisms with susceptibility to tuberculosis.
[So] Source:APMIS;126(3):227-233, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Susceptibility to tuberculosis and progression of the disease depend on interactions between the bacterial agent, host immune system, and environmental and genetic factors. In this case-controlled study, we aimed to determine the role of single-nucleotide polymorphisms of interferon-gamma, interleukin-4 and interleukin-17 in susceptibility to tuberculosis. Genomic DNA was extracted from peripheral blood samples of patients and controls. The association of single-nucleotide polymorphisms in interleukin-4 (-590C/T), interleukin-17 (-152A/G) and interferon-gamma (+874T/A) was investigated by polymerase chain reaction (PCR)-restriction fragment length polymorphism and amplification refractory mutation system-PCR. A total of 76 tuberculosis patients and 119 healthy individuals were included in this study. The interferon-gamma (+874T/A) TA genotype was significantly associated with susceptibility to tuberculosis in patients compared to controls (OR = 1.76; 95%CI = 0.84-3.71; p = 0.007), while the interferon-gamma (+874T/A) TT genotype (OR = 0.51; 95%CI = 0.19-1.36; p = 0.007) had protective effects against tuberculosis and was related to a low risk of tuberculosis development. The difference between allelic and genotypic frequencies of interleukin-4 (-590C/T) between patients and controls was not significant (p = 0.46). Multivariate logistic regression analysis revealed that the interleukin-17 (-152A/G) AG genotype (OR = 2.27; 95%CI = 1.19-4.34; p = 0.03) and AA genotype (OR = 1.03; 95%CI = 0.43-2.44; p = 0.03) were significantly different between patients and controls. In conclusion, single-nucleotide mutations in different cytokine genes may have protective effects or increase the risk of tuberculosis.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Interferon gama/genética
Interleucina-17/genética
Interleucina-4/genética
Tuberculose Pulmonar/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Estudos de Casos e Controles
DNA/genética
Feminino
Frequência do Gene/genética
Genótipo
Seres Humanos
Masculino
Meia-Idade
Mycobacterium tuberculosis/imunologia
Técnicas de Amplificação de Ácido Nucleico
Polimorfismo de Fragmento de Restrição
Polimorfismo de Nucleotídeo Único/genética
Tuberculose Pulmonar/microbiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL17A protein, human); 0 (IL4 protein, human); 0 (Interleukin-17); 207137-56-2 (Interleukin-4); 82115-62-6 (Interferon-gamma); 9007-49-2 (DNA)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180127
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12810


  6 / 97973 MEDLINE  
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[PMID]:29458667
[Au] Autor:Atrisco-Morales J; Martínez-Santos VI; Román-Román A; Alarcón-Millán J; De Sampedro-Reyes J; Cruz-Del Carmen I; Martínez-Carrillo DN; Fernández-Tilapa G
[Ad] Endereço:1​Laboratorio de Investigación Clínica, Facultad de Ciencias Químico-Biológicas, Universidad Autónoma de Guerrero, Av. Lázaro Cárdenas s/n C.U. Sur. Chilpancingo, Guerrero, C.P. 39090, Mexico.
[Ti] Título:vacA s1m1 genotype and cagA EPIYA-ABC pattern are predominant among Helicobacter pylori strains isolated from Mexican patients with chronic gastritis.
[So] Source:J Med Microbiol;67(3):314-324, 2018 Mar.
[Is] ISSN:1473-5644
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Virulent genotypes of Helicobacter pylori vacA s1m1/cagA /babA2 have been associated with severe gastric diseases. VacA, CagA and BabA are polymorphic proteins, and their association with the disease is allele-dependent. The aims of this work were: (i) to determine the prevalence of H. pylori by type of chronic gastritis; (ii) to describe the frequency of cagA, babA2 and vacA genotypes in strains from patients with different types of chronic gastritis; (iii) to characterize the variable region of cagA alleles. METHODOLOGY: A total of 164 patients with chronic gastritis were studied. Altogether, 50 H. pylori strains were isolated, and the status of cagA, babA2 and vacA genotypes was examined by PCR. cagA EPIYA segment identification was performed using PCR and sequencing of cagA fragments of six randomly selected strains.Results/Key findings. The overall prevalence of H. pylori was 30.5 %. Eighty percent of the isolated strains were vacA s1m1, and the cagA and babA2 genes were detected in 74 and 32 % of the strains, respectively. The most frequent genotypes were vacA s1m1/cagA /babA2 and vacA s1m1/cagA /babA2 , with 40 % (20/50) and 28 % (14/50), respectively. In cagA , the most frequent EPIYA motif was -ABC (78.4 %), and EPIYA-ABCC and -ABCCC motifs were found in 10.8 % of the strains. A modified EPIYT-B motif was found in 66.6 % of the sequenced strains. CONCLUSION: H. pylori strains carrying vacA s1m1, cagA and babA2 genotypes were the most prevalent in patients with chronic gastritis from the south of Mexico. In the cagA strains, the EPIYA-ABC motif was the most common.
[Mh] Termos MeSH primário: Antígenos de Bactérias/genética
Proteínas de Bactérias/genética
Gastrite/microbiologia
Infecções por Helicobacter/microbiologia
Helicobacter pylori/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Alelos
Doença Crônica/epidemiologia
Feminino
Gastrite/epidemiologia
Gastroscopia
Genótipo
Helicobacter pylori/isolamento & purificação
Seres Humanos
Masculino
México/epidemiologia
Meia-Idade
Reação em Cadeia da Polimerase
Estômago/microbiologia
Estômago/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Bacterial); 0 (Bacterial Proteins); 0 (VacA protein, Helicobacter pylori); 0 (cagA protein, Helicobacter pylori)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180221
[St] Status:MEDLINE
[do] DOI:10.1099/jmm.0.000660


  7 / 97973 MEDLINE  
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[PMID]:29231025
[Au] Autor:Shen X; Li M; Wang YL; Chen YL; Lin Y; Zhao ZM; Que TZ
[Ad] Endereço:Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China.
[Ti] Título:[Comparison of MPure-12 Automatic Nucleic Acid Purification and Chelex-100 Method].
[So] Source:Fa Yi Xue Za Zhi;33(2):168-170, 2017 Apr.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To explore the forensic application value of MPure-12 automatic nucleic acid purification (MPure-12 Method) for DNA extraction by extracting and typing DNA from bloodstains and various kinds of biological samples with different DNA contents. METHODS: Nine types of biological samples, such as bloodstains, semen stains, and saliva were collected. DNA were extracted using MPure-12 method and Chelex-100 method, followed by PCR amplification and electrophoresis for obtaining STR-profiles. RESULTS: The samples such as hair root, chutty, butt, muscular tissue, saliva stain, bloodstain and semen stain were typed successfully by MPure-12 method. Partial alleles were lacked in the samples of saliva, and the genotyping of contact swabs was unsatisfactory. Additional, all of the bloodstains (20 µL, 15 µL, 10 µL, 5 µL, 1 µL) showed good typing results using Chelex-100 method. But the loss of alleles occurred in 1 µL blood volume by MPure-12 method. CONCLUSIONS: MPure-12 method is suitable for DNA extraction of a certain concentration blood samples.Chelex-100 method may be better for the extraction of trace blood samples.This instrument used in nucleic acid extraction has the advantages of simplicity of operator, rapidity, high extraction efficiency, high rate of reportable STR-profiles and lower man-made pollution.
[Mh] Termos MeSH primário: Quelantes
DNA/isolamento & purificação
Medicina Legal/métodos
Reação em Cadeia da Polimerase/métodos
Poliestirenos
Polivinil
[Mh] Termos MeSH secundário: Alelos
Manchas de Sangue
DNA/sangue
Impressões Digitais de DNA
Genótipo
Seres Humanos
Masculino
Resinas Sintéticas
Saliva
Sêmen/química
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chelating Agents); 0 (Polystyrenes); 0 (Polyvinyls); 0 (Resins, Synthetic); 11139-85-8 (Chelex 100); 80208-96-4 (chelex); 9007-49-2 (DNA)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2017.02.013


  8 / 97973 MEDLINE  
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[PMID]:29231018
[Au] Autor:Li R; Li CT; Zhao SM; Li HX; Li L; Wu RG; Zhang CC; Sun HY
[Ad] Endereço:Department of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510089, China.
[Ti] Título:[Full Sibling Identification by IBS Scoring Method and Establishment of the Query Table of Its Critical Value].
[So] Source:Fa Yi Xue Za Zhi;33(2):136-140, 2017 Apr.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To establish a query table of IBS critical value and identification power for the detection systems with different numbers of STR loci under different false judgment standards. METHODS: Samples of 267 pairs of full siblings and 360 pairs of unrelated individuals were collected and 19 autosomal STR loci were genotyped by Golden ye™ 20A system. The full siblings were determined using IBS scoring method according to the 'Regulation for biological full sibling testing'. The critical values and identification power for the detection systems with different numbers of STR loci under different false judgment standards were calculated by theoretical methods. RESULTS: According to the formal IBS scoring criteria, the identification power of full siblings and unrelated individuals was 0.764 0 and the rate of false judgment was 0. The results of theoretical calculation were consistent with that of sample observation. The query table of IBS critical value for identification of full sibling detection systems with different numbers of STR loci was successfully established. CONCLUSIONS: The IBS scoring method defined by the regulation has high detection efficiency and low false judgment rate, which provides a relatively conservative result. The query table of IBS critical value for identification of full sibling detection systems with different numbers of STR loci provides an important reference data for the result judgment of full sibling testing and owns a considerable practical value.
[Mh] Termos MeSH primário: Síndrome do Intestino Irritável/genética
Irmãos
[Mh] Termos MeSH secundário: Alelos
Genótipo
Seres Humanos
Reprodutibilidade dos Testes
Projetos de Pesquisa
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2017.02.006


  9 / 97973 MEDLINE  
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[PMID]:29231017
[Au] Autor:Wang YL; Sheng X; Li M; Chen YL; Lin Y; Chen LQ
[Ad] Endereço:Department of Forensic Medicine, Inner Mongolia Medical University, Hohhot 010030, China.
[Ti] Título:[Forensic Application of HuaxiaTM Platinum Kit].
[So] Source:Fa Yi Xue Za Zhi;33(2):129-135, 2017 Apr.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphism of 23 autosomal STR loci of Huaxia™ Platinum kit in Chinese Han population, and to evaluate the forensic efficiency of Huaxia™ Platinum kit. METHODS: A total of 500 unrelated healthy individuals from Han population were genotyped with Huaxia™ Platinum kit. The frequency distribution and the parameter of population genetics of STR loci were analysed statistically. Huaxia™ Platinum kit was compared with other 7 commercial STR kits commonly seen at home and abroad in the number of STR loci, interior label, fluorescent mark, total number of alleles in Ladder and system effectiveness. RESULTS: All the 23 autosomal STR loci were consistent with Hardy-Weinberg equilibrium ( >0.05). The discrimination power was 0.791 5-0.986 2. The polymorphism information content (PIC) was 0.559 0-0.914 0. The combined discrimination power (CDP) was 1-4.1×10⁻²8, while combined probability of paternity exclusion in trio (CPET) and in duo (CPED) were 1-4.1×10⁻¹° and 1-8.4×10⁻7, respectively. Compared with other 7 kits, Huaxia™ Platinum kit contained the most number of alleles within the Ladder. CONCLUSIONS: All the 23 autosomal STR loci of Huaxia™ Platinum kit with highly polymorphic in Han population can be used for paternity testing and individual identification. Compared with other 7 kits, it appears that Huaxia™ Platinum kit can provide more genetic information.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Genética Forense/métodos
Genética Populacional
Paternidade
Platina
Polimorfismo Genético
[Mh] Termos MeSH secundário: Alelos
Grupo com Ancestrais do Continente Asiático/etnologia
China
Frequência do Gene
Genótipo
Seres Humanos
Repetições de Microssatélites
Probabilidade
Kit de Reagentes para Diagnóstico
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Reagent Kits, Diagnostic); 49DFR088MY (Platinum)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2017.02.005


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[PMID]:29205972
[Au] Autor:Su Q; Bu F; Chen C; Shi Y; Lu ZY; Liu YC
[Ad] Endereço:Forensic Science Service of Beijing Public Security Bureau, Beijing 100192, China.
[Ti] Título:[Microdeletion and Mutation of Y Chromosome in Full Sibling Identification].
[So] Source:Fa Yi Xue Za Zhi;32(6):438-440, 2016 Dec.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To explore the identification method of full sibling between two males with microdeletion and mutation of Y chromosome. METHODS: DNA were extracted from two samples. The type testing of Y-STR and autosomal STR were performed. Full sibling between two individuals was calculated by IBS, ITO and discriminant functions methods. RESULTS: There were 2 loci mutations existed in 33 Y-STR loci and one of the two samples had 19 loci deletions. The IBS of two samples was 53 and greater than the threshold which was 42; FSI was 1.36×10¹6 and far greater than 19. The discriminant function of full sibling-unrelated individual was greater than , which meant the two individuals tend to be full sibling. CONCLUSIONS: The methods of IBS, ITO and discriminant functions of full sibling-unrelated individual can be used comprehensively to provide more reliable expert opinion in microdeletion and mutation of Y chromosome in full sibling identification.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Cromossomos Humanos Y/genética
Genética Forense
Deleção de Sequência
[Mh] Termos MeSH secundário: Alelos
Análise Discriminante
Seres Humanos
Masculino
Reação em Cadeia da Polimerase
Irmãos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.06.011



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