Base de dados : MEDLINE
Pesquisa : G05.348.500 [Categoria DeCS]
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[PMID]:29188666
[Au] Autor:He WZ; Ma XY; Xian JJ; Yuan TL; Li SY; Li SL; Liu HB; Li Q
[Ad] Endereço:Key Laboratory for Major Obstetric Diseases of Guangdong Province, Forensic Identification Institute of the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, China.
[Ti] Título:[Genetic Polymorphisms of SNP Located in the 5' Region of VEGF Gene in Han Population in Guangdong].
[So] Source:Fa Yi Xue Za Zhi;32(4):257-260, 2016 Aug.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphism of SNP located in the 5' region of the vascular endothelial growth factor (VEGF) gene in Han population in Guangdong and provide basic data for forensic application and population genetics research. METHODS: The genetic polymorphisms of 4 SNP loci (rs699947, rs1570360, rs833061, rs2010963) within 5' region of VEGF gene of 184 unrelated individuals in Han population in Guangdong were analyzed by DNA micro sequencing technology SNaPshot. The statistical analysis was carried out by PowerMarker v3.25 software. RESULTS: The genotype distributions of the 4 SNP loci within 5' region of VEGF gene of 184 unrelated individuals in Han population in Guangdong were in accordance with Hardy-Weinberg equilibrium ( >0.05) and 3 kinds of genotypes were detected from each loci. There was high linkage disequilibrium between the rs833061 and rs699947 SNP loci. Six haplotypes were observed, while the frequency of C-G-T-C, C-G-T-G, A-A-C-G and A-G-C-G were more than 10%, which were the main haplotypes. The discrimination probabilities (DP) of rs699947, rs833061, and rs2010963 loci were between 0.583 and 0.634, with the power of exclusion (PE) between 0.133 and 0.144. The DP and PE of haplotypes of 4 SNP were 0.868 and 0.438, respectively. CONCLUSIONS: There are great polymorphisms in the 5' region of VEGF gene in Han population in Guangdong, which could be used as genetic indexes for individual identification and paternity testing, as well as association analysis of the related diseases.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Polimorfismo de Nucleotídeo Único
Fator A de Crescimento do Endotélio Vascular/genética
[Mh] Termos MeSH secundário: China
Genética Populacional
Genótipo
Haplótipos
Seres Humanos
Desequilíbrio de Ligação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (VEGFA protein, human); 0 (Vascular Endothelial Growth Factor A)
[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:171201
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.04.005


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[PMID]:29465570
[Au] Autor:Kim SY; Lee BD; Park JM; Lee YM; Moon E; Jeong HJ; Chung YI
[Ad] Endereço:Department of Psychiatry.
[Ti] Título:Transmissibility and familiality of NEO personality dimensions in a sample of Korean families with schizophrenia.
[So] Source:Medicine (Baltimore);97(8):e9858, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Categorical syndromes such as schizophrenia may represent complexes of many continuous psychological structural phenotypes along several dimensions of personality development/degeneration. The present study investigated the heritability and familiality of Neuroticism-Extraversion-Openness to experience (NEO) personality dimensions in Korean families with schizophrenic linkage disequilibrium (LD).We have recruited 204 probands (with schizophrenia) with their parents and siblings whenever possible. We have used NEO questionnaires for measuring personality and symptomatic dimensions. Heritabilities of personality dimensions in total 543 family members were estimated using Sequential Oligogenic Linkage Analysis Routines (SOLAR). Personality dimensions in total family members were compared with those in 307 healthy unrelated controls for measuring the familialities using ANOVA analysis.Four of the 5 NEO variables were significantly heritable and were included in the subsequent analyses. The 3 groups (control, unaffected first-degree relative, case) were found to be significantly different and with the expected order of average group scores for all heritable dimensions.Our results show that the aberrations in several personality dimensions could form the complexity of schizophrenic syndrome as a result of genetic-environment coactions or interactions in spite of some limitations (recruited family, phenotyping).
[Mh] Termos MeSH primário: Família/psicologia
Personalidade
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Estado de Consciência
Meio Ambiente
Extroversão (Psicologia)
Seres Humanos
Desequilíbrio de Ligação
Neuroticismo
Fenótipo
Psicologia do Esquizofrênico
Inquéritos e Questionários
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180222
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009858


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[PMID]:29369772
[Au] Autor:Manche SK; Jangala M; Dudekula D; Koralla M; Akka J
[Ad] Endereço:MAA Research Foundation, Somajiguda, Hyderabad, Telangana State, India; Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana State, India.
[Ti] Título:Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis.
[So] Source:Life Sci;196:77-83, 2018 Mar 01.
[Is] ISSN:1879-0631
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:AIM: Presbycusis or age related hearing loss is caused by several extrinsic and intrinsic factors that damage the auditory system. Gene polymorphisms in folate metabolism were found to play an important role in the etiology of presbycusis. The present study aimed to investigate the role of 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and thymidylate synthase (TYMS) gene polymorphisms in the onset of presbycusis in a South Indian population. MAIN METHODS: A total of 220 subjects confirmed with presbycusis along with 270 age and sex matched healthy controls visiting MAA ENT Hospitals, Hyderabad, India were enrolled for the study. Genotyping of MTHFR C677T (rs180133) and A1298C (rs1801131), MTR A2756G (rs1805087), TSER (rs1801136) and TS1494indel6 bp (rs16430) was carried out using PCR & PCR-RFLP methods. KEY FINDINGS: The 'TT' genotype of MTHFR C677T and '152 bp/152 bp' genotype of TS1494indel6 bp showed statistically significant risk for presbycusis while CC genotype of MTHFR A1298C, '2R/2R' genotype of TSER at 3'UTR and 6 bp ins/6 bp ins of TYMS at 5'UTR were found to be protective. The T-A-A haplotype combination of MTHFR C677T, MTHFR A1298C and MTR A2756G as well as 3R- 152 bp of TYMS at 5'UTR and 3'UTR were also found to contribute significant risk for the onset of presbycusis. Further, the combination of SNP loci TSER: TS1494indel6 bp exhibited moderate linkage in presbycusis. SIGNIFICANCE: The present pilot study identified the significant association of gene variants of MTHFR and TYMS with presbycusis. These findings aid in early diagnosis of hearing loss in the elderly population.
[Mh] Termos MeSH primário: Ácido Fólico/metabolismo
Predisposição Genética para Doença/genética
Polimorfismo Genético/genética
Presbiacusia/genética
[Mh] Termos MeSH secundário: Regiões 3' não Traduzidas/genética
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Grupo com Ancestrais do Continente Asiático
Estudos de Casos e Controles
Frequência do Gene
Genótipo
Seres Humanos
Índia/epidemiologia
Desequilíbrio de Ligação/genética
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Projetos Piloto
Polimorfismo de Nucleotídeo Único
Presbiacusia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3' Untranslated Regions); 935E97BOY8 (Folic Acid); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:29355683
[Au] Autor:Yang C; Wu J; Zhang X; Wen L; Sun J; Cheng Y; Tang X; Liang B; Chen G; Zhou F; Cui Y; Zhang A; Zhang X; Zheng X; Yang S; Sun L
[Ad] Endereço:Institute of Dermatology and Department of Dermatology of the First Affiliated Hospital, Anhui Medical University, Hefei 230032, China; Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei 230032, China.
[Ti] Título:Fine-mapping analysis of the MHC region for vitiligo based on a new Han-MHC reference panel.
[So] Source:Gene;648:76-81, 2018 Mar 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Vitiligo is an immune-related disease with patchy depigmentation of skin and hair caused by selective destruction of melanocytes. In recent decades, many studies have shown the association between vitiligo and HLA genes; however, the results of Han Chinese are scarce. In this study, we performed a fine-mapping analysis of the MHC region in 2818 Han Chinese subjects through a widely used HLA imputation method with a newly built large-scale Han-MHC reference panel. Three new four-digit HLA alleles (HLA-DQB1 ∗ 02:02, HLA-DQA1 ∗ 02:01 and HLA-DPB1 ∗ 17:01) were identified to be associated with the risk of vitiligo, and four previously reported alleles were confirmed. Further conditional analysis revealed that two important variants, HLA-DQß1 amino acid position 135 (OR = 1.79, P = 1.87 × 10 ) and HLA-B amino acid positions 45-46 (OR = 1.44, P = 5.61 × 10 ), conferred most of the MHC associations. Three-dimension ribbon models showed that the former is located within the ß2 domain of the HLA-DQß1 molecule, and the latter lies in the α1 domain of the HLA-B molecule, while both are involved in specific antigen presenting process. Finally, we summarized all significant signals in the MHC region to clarify their complex relationships, and 8.60% of phenotypic variance could be explained based on all reported variants in Han Chinese so far. Our findings highlight the complex genetic architecture of the MHC region for vitiligo in Han Chinese population and expand our understanding of the roles of HLA coding variants in the etiology of vitiligo.
[Mh] Termos MeSH primário: Predisposição Genética para Doença/genética
Antígenos HLA/genética
Polimorfismo de Nucleotídeo Único
Vitiligo/genética
[Mh] Termos MeSH secundário: Alelos
Grupo com Ancestrais do Continente Asiático/genética
China
Mapeamento Cromossômico/métodos
Frequência do Gene
Predisposição Genética para Doença/etnologia
Haplótipos
Seres Humanos
Desequilíbrio de Ligação
Modelos Logísticos
Fatores de Risco
Vitiligo/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA Antigens)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180123
[St] Status:MEDLINE


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[PMID]:28743032
[Au] Autor:Gouy A; Zieger M
[Ad] Endereço:Computational and Molecular Population Genetics, Institute of Ecology and Evolution, University of Bern, Baltzerstrasse 6, 3012 Bern, Switzerland; Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland. Electronic address: Alexandre.Gouy@iee.unibe.ch.
[Ti] Título:STRAF-A convenient online tool for STR data evaluation in forensic genetics.
[So] Source:Forensic Sci Int Genet;30:148-151, 2017 09.
[Is] ISSN:1878-0326
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Population data in forensic genetics has to be checked for a variety of statistical parameters before it can be employed for case work. A lot of very powerful statistical tools are available for this task, most of them developed by labs having their research focus on population genetics or evolution. However, most of these programs require a substantial amount of experience. In addition, to our knowledge, none of the freely available programs calculates all the common parameters for a population study in forensic genetics at once, based on a single input file. We present here a convenient online tool that fills this gap. STRAF (STR Analysis for Forensics) provides an intuitive interface and input file format and computes all the relevant parameters for a classical population study based on autosomal STR data at once and in a convenient way. In addition, STRAF includes a PCA module that can be used for population substructure detection or quality control. The results generated by the program were verified by recalculating parameters from an already published population study.
[Mh] Termos MeSH primário: Genética Populacional
Internet
Repetições de Microssatélites
Software
[Mh] Termos MeSH secundário: Impressões Digitais de DNA
Frequência do Gene
Variação Genética
Seres Humanos
Desequilíbrio de Ligação
Análise de Componente Principal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE


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[PMID]:27779103
[Au] Autor:Yang YC; Chang TY; Chen TC; Lin WS; Chang SC; Lee YJ
[Ad] Endereço:Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan.
[Ti] Título:Functional variant of the P2X7 receptor gene is associated with human papillomavirus-16 positive cervical squamous cell carcinoma.
[So] Source:Oncotarget;7(50):82798-82803, 2016 Dec 13.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Human papillomavirus (HPV) infection and the fate of HPV infected cervical epithelial cells are strictly associated with cervical cancer development. P2X7 receptor has been implicated in both the regulation of immune responses and apoptosis of cervical cancer cells. The study aims to investigate if polymorphisms in the P2RX7 gene are associated with the risk of cervical cancer in Taiwanese women. P2RX7 253 T/C, 835 G/A, and 1513 A/C loss-of-function polymorphisms were genotyped in a hospital-based study of 507 women with cervical squamous cell carcinoma (CSCC) and 1619 age-matched healthy control women. The presence and genotypes of HPV in CSCC was determined. The frequency of 253 C/C genotype was found to increase significantly in patients with HPV-16 positive CSCC compared with controls (odds ratio = 10.2, 95% confidence interval 1.39-87.8, Pc = 0.03). No significant associations were found for other 2 polymorphisms. Analysis of haplotypes also revealed no significant differences among women with CSCC, those with HPV-16 positive CSCC and controls. In conclusion, inheritance of the C/C genotype at position 253 in the P2RX7 gene may contribute to the risk of HPV-16 associated CSCC in Taiwanese women.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
DNA Viral/genética
Papillomavirus Humano 16/genética
Infecções por Papillomavirus/virologia
Polimorfismo de Nucleotídeo Único
Receptores Purinérgicos P2X7/genética
Neoplasias do Colo do Útero/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Carcinoma de Células Escamosas/patologia
Carcinoma de Células Escamosas/virologia
Estudos de Casos e Controles
Distribuição de Qui-Quadrado
Feminino
Frequência do Gene
Predisposição Genética para Doença
Haplótipos
Hereditariedade
Heterozigoto
Homozigoto
Testes de DNA para Papilomavírus Humano
Seres Humanos
Desequilíbrio de Ligação
Meia-Idade
Razão de Chances
Linhagem
Fenótipo
Fatores de Risco
Taiwan
Neoplasias do Colo do Útero/patologia
Neoplasias do Colo do Útero/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Viral); 0 (P2XR receptor, human); 0 (Receptors, Purinergic P2X7)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.12636


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[PMID]:29443789
[Au] Autor:Zhu L; He Y; Niu F; Yan M; Li J; Yuan D; Jin T
[Ad] Endereço:Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region.
[Ti] Título:Polymorphisms of drug-metabolizing enzyme CYP2E1 in Chinese Uygur population.
[So] Source:Medicine (Baltimore);97(7):e9970, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pharmacogenetics is the genetic basis of pharmacokinetics, genetic testing, and clinical management in diseases. Evaluation about genetic alterations of drug metabolizing enzymes in human genome contributes toward understanding the interindividual and interethnic variability for clinical response to potential toxicants. CYP2E1 gene encodes a drug-metabolizing enzyme that metabolizes mostly small, polar molecules, including toxic laboratory chemicals. The aim of this study was to investigate CYP2E1 polymorphisms and gene profile in a Chinese Uygur population. Frequencies for the CYP2E1 mutated alleles and genotypes were screened in 100 unrelated random healthy Uygur volunteers. PCR and direct sequencing revealed a total of 32 polymorphisms, of which 5 novel mutations were presented. Rs 943975 was the most common single nucleotide polymorphism (SNP). The allele frequencies of CYP2E11A, 4, 7A, and 7C were 65.5, 2, 19.5, and 13%, respectively. The most common genotype combinations were CYP2C191A/1A (43%) and 1A/7C (24%). Functional prediction for 2 nonsynonymous mutations G173S and V179I was performed using MutationTaster, sorting intolerant from tolerant, and PolyPhen-2. The observations of the present study give rise to useful information on CYP2E1 polymorphisms in Chinese Uygur individuals. The results suggest important clinical implications for the use of medications metabolized by CYP2E1 among Uygurs.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Citocromo P-450 CYP2E1/genética
Frequência do Gene
Mutação
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adulto
China
Feminino
Genótipo
Seres Humanos
Desequilíbrio de Ligação
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
EC 1.14.13.- (Cytochrome P-450 CYP2E1)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180215
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009970


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[PMID]:29220677
[Au] Autor:Lu Q; Li B; Ou D; Erlendsdottir M; Powles RL; Jiang T; Hu Y; Chang D; Jin C; Dai W; He Q; Liu Z; Mukherjee S; Crane PK; Zhao H
[Ad] Endereço:Department of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
[Ti] Título:A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics.
[So] Source:Am J Hum Genet;101(6):939-964, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. Jointly modeling multiple traits' genetic profiles has provided insights into the shared genetic basis of many complex traits. However, large-scale inference sets a high bar for both statistical power and biological interpretability. Here we introduce a principled framework to estimate annotation-stratified genetic covariance between traits using GWAS summary statistics. Through theoretical and numerical analyses, we demonstrate that our method provides accurate covariance estimates, thereby enabling researchers to dissect both the shared and distinct genetic architecture across traits to better understand their etiologies. Among 50 complex traits with publicly accessible GWAS summary statistics (N ≈ 4.5 million), we identified more than 170 pairs with statistically significant genetic covariance. In particular, we found strong genetic covariance between late-onset Alzheimer disease (LOAD) and amyotrophic lateral sclerosis (ALS), two major neurodegenerative diseases, in single-nucleotide polymorphisms (SNPs) with high minor allele frequencies and in SNPs located in the predicted functional genome. Joint analysis of LOAD, ALS, and other traits highlights LOAD's correlation with cognitive traits and hints at an autoimmune component for ALS.
[Mh] Termos MeSH primário: Doença de Alzheimer/genética
Esclerose Amiotrófica Lateral/genética
Análise de Variância
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla/métodos
[Mh] Termos MeSH secundário: Seres Humanos
Desequilíbrio de Ligação/genética
Anotação de Sequência Molecular
Polimorfismo de Nucleotídeo Único/genética
Locos de Características Quantitativas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:29080673
[Au] Autor:Noguerales V; Cordero PJ; Ortego J
[Ad] Endereço:Grupo de Investigación de la Biodiversidad Genética y Cultural, Instituto de Investigación en Recursos Cinegéticos - IREC (CSIC, UCLM, JCCM), Ronda de Toledo 12, E-13071 Ciudad Real, Spain. Electronic address: victor.noguerales@csic.es.
[Ti] Título:Inferring the demographic history of an oligophagous grasshopper: Effects of climatic niche stability and host-plant distribution.
[So] Source:Mol Phylogenet Evol;118:343-356, 2018 Jan.
[Is] ISSN:1095-9513
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Understanding the consequences of past environmental changes on the abiotic and biotic components of the landscape and deciphering their impacts on the demographic trajectories of species is a major issue in evolutionary biogeography. In this study, we combine nuclear and mitochondrial genetic data to study the phylogeographical structure and lineage-specific demographic histories of the scrub-legume grasshopper (Chorthippus binotatus binotatus), a montane taxon distributed in the Iberian Peninsula and France that exclusively feeds on certain scrub-legume species. Genetic data and paleo-distribution modelling indicate the presence of four main lineages that seem to have diverged in allopatry and long-term persisted in Iberian and French refugia since the Mid Pleistocene. Comparisons of different demographic hypotheses in an Approximate Bayesian Computation (ABC) framework supported a population bottleneck in the northwestern French clade and paleo-distribution modelling indicate that the populations of this lineage have experienced more severe environmental fluctuations during the last 21 000 years than those from the Iberian Peninsula. Accordingly, we found that nuclear genetic diversity of the populations of scrub-legume grasshopper is positively associated with local stability of suitable habitats defined by both Pleistocene climate changes and historical distributional shifts of host-plant species. Overall, our study highlights the importance of integrating the potential effects of abiotic (i.e. climate and geography) and biotic components (i.e. inter-specific interactions) into the study of the evolutionary and demographic history of specialist taxa with narrow ecological requirements.
[Mh] Termos MeSH primário: Variação Genética
Gafanhotos/genética
[Mh] Termos MeSH secundário: Animais
Teorema de Bayes
Mudança Climática
DNA/isolamento & purificação
DNA/metabolismo
Ecossistema
Complexo IV da Cadeia de Transporte de Elétrons/química
Complexo IV da Cadeia de Transporte de Elétrons/genética
França
Genética Populacional
Gafanhotos/classificação
Desequilíbrio de Ligação
Filogenia
Filogeografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA); EC 1.9.3.1 (Electron Transport Complex IV)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171030
[St] Status:MEDLINE


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[PMID]:29381998
[Au] Autor:Wang L; Ren G; Li J; Zhu L; Niu F; Yan M; Li J; Yuan D; Jin T
[Ad] Endereço:Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi.
[Ti] Título:Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in a Chinese Tibetan population.
[So] Source:Medicine (Baltimore);96(47):e8855, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cytochrome P4502E1 (CYP2E1) gene genetic polymorphisms vary markedly in frequency among different ethnic and racial groups.We studied the genotype distributions and allele frequencies of 3 CYP2E1 polymorphisms: CYP2E11A, CYP2E17A, and CYP2E17C by polymerase chain reaction technique in a sample of 100 healthy subjects representing Tibetan population.The frequencies of CYP2E11A, 7A, and 7C alleles were 0.705, 0.125, and 0.170, respectively. Compared with other populations, we found that the allele frequencies of the variants -352A>G (rs2070672) and -333A>T (rs2070673) in this Tibetan population have significant differences compared with European-American, African-American, Japanese, Korean, and other different geographic areas in Chinese Han population. Furthermore, the results of protein prediction revealed that the variant 6397G>A (rs61710826) could influence the protein structure and function.These findings in this study would be valuable for pharmacogenetics for drug therapy and drug discovery. However, further studies in larger samples are warranted to confirm our results.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Citocromo P-450 CYP2E1/genética
Grupos Étnicos/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Alelos
Feminino
Frequência do Gene
Genótipo
Voluntários Saudáveis
Seres Humanos
Desequilíbrio de Ligação
Masculino
Reação em Cadeia da Polimerase
Tibet/etnologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.14.13.- (Cytochrome P-450 CYP2E1)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008855



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