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[PMID]:28715588
[Au] Autor:Musolf AM; Simpson CL; Moiz BA; Long KA; Portas L; Murgia F; Ciner EB; Stambolian D; Bailey-Wilson JE
[Ad] Endereço:Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States.
[Ti] Título:Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.
[So] Source:Invest Ophthalmol Vis Sci;58(9):3547-3554, 2017 Jul 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Myopia is a common visual disorder caused by eye overgrowth, resulting in blurry vision. It affects one in four Americans, and its prevalence is increasing. The genetic mechanisms that underpin myopia are not completely understood. Here, we use genotype data and linkage analyses to identify high-risk genetic loci that are significantly linked to myopia. Methods: Individuals from 56 Caucasian families with a history of myopia were genotyped on an exome-based array, and the single nucleotide polymorphism (SNP) data were merged with microsatellite genotype data. Refractive error measures on the samples were converted into binary phenotypes consisting of affected, unaffected, or unknown myopia status. Parametric linkage analyses assuming an autosomal dominant model with 90% penetrance and 10% phenocopy rate were performed. Results: Single variant two-point analyses yielded three significantly linked SNPs at 11p14.1 and 11p11.2; a further 45 SNPs at 11p were found to be suggestive. No other chromosome had any significant SNPs or more than seven suggestive linkages. Two of the significant SNPs were located in BBOX1-AS1 and one in the intergenic region between ORA47 and TRIM49B. Collapsed haplotype pattern two-point analysis and multipoint analyses also yielded multiple suggestively linked genes at 11p. Multipoint analysis also identified suggestive evidence of linkage on 20q13. Conclusions: We identified three genome-wide significant linked variants on 11p for myopia in Caucasians. Although the novel specific signals still need to be replicated, 11p is a promising region that has been identified by other linkage studies with a number of potentially interesting candidate genes. We hope that the identification of these regions on 11p as potential causal regions for myopia will lead to more focus on these regions and maybe possible replication of our specific linkage peaks in other studies. We further plan targeted sequencing on 11p for our most highly linked families to more clearly understand the source of the linkage in this region.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 11/genética
Grupo com Ancestrais do Continente Europeu/genética
Ligação Genética
Miopia/genética
[Mh] Termos MeSH secundário: Adulto
Mapeamento Cromossômico
Exoma/genética
Feminino
Genoma Humano
Estudo de Associação Genômica Ampla
Genótipo
Técnicas de Genotipagem
Seres Humanos
Escore Lod
Masculino
Linhagem
Polimorfismo de Nucleotídeo Único
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170728
[Lr] Data última revisão:
170728
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-21271


  2 / 6059 MEDLINE  
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[PMID]:28418495
[Au] Autor:Chen J; Wang Q; Cabrera PE; Zhong Z; Sun W; Jiao X; Chen Y; Govindarajan G; Naeem MA; Khan SN; Ali MH; Assir MZ; Rahman FU; Qazi ZA; Riazuddin S; Akram J; Riazuddin SA; Hejtmancik JF
[Ad] Endereço:Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 2Department of Ophthalmology, Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.
[Ti] Título:Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
[So] Source:Invest Ophthalmol Vis Sci;58(4):2207-2217, 2017 Apr 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population. Methods: Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped consanguineous families were screened for mutations in 33 known candidate genes. Results: Patients in 32 arCC families were homozygous for markers near at least 1 of the 33 known CC genes. Sequencing the included genes revealed homozygous cosegregating sequence changes in 10 families, 2 of which had the same variation. These included five missense, one nonsense, two frame shift, and one splice site mutations, eight of which were novel, in EPHA2, FOXE3, FYCO1, TDRD7, MIP, GALK1, and CRYBA4. Conclusions: The above results confirm the usefulness of homozygosity mapping for identifying genetic defects underlying autosomal recessive disorders in consanguineous families. In our ongoing study of arCC in Pakistan, including 83 arCC families that underwent homozygosity mapping, 3 mapped using genome-wide linkage analysis in unpublished data, and 30 previously reported families, mutations were detected in approximately 37.1% (43/116) of all families studied, suggesting that additional genes might be responsible in the remaining families. The most commonly mutated gene was FYCO1 (14%), followed by CRYBB3 (5.2%), GALK1 (3.5%), and EPHA2 (2.6%). This provides the first comprehensive description of the genetic architecture of arCC in the Pakistani population.
[Mh] Termos MeSH primário: Catarata/congênito
Genes Recessivos/genética
[Mh] Termos MeSH secundário: Catarata/genética
Códon sem Sentido/genética
Feminino
Mutação da Fase de Leitura/genética
Marcadores Genéticos/genética
Homozigoto
Seres Humanos
Escore Lod
Masculino
Mutação de Sentido Incorreto/genética
Paquistão
Linhagem
Isoformas de Proteínas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (Genetic Markers); 0 (Protein Isoforms)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170426
[Lr] Data última revisão:
170426
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21469


  3 / 6059 MEDLINE  
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[PMID]:28403819
[Au] Autor:Curtolo M; Cristofani-Yaly M; Gazaffi R; Takita MA; Figueira A; Machado MA
[Ad] Endereço:Centro de Energia Nuclear na Agricultura - Universidade de São Paulo (USP), 13400-970, Piracicaba, SP, Brazil.
[Ti] Título:QTL mapping for fruit quality in Citrus using DArTseq markers.
[So] Source:BMC Genomics;18(1):289, 2017 04 12.
[Is] ISSN:1471-2164
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Citrus breeding programs have many limitations associated with the species biology and physiology, requiring the incorporation of new biotechnological tools to provide new breeding possibilities. Diversity Arrays Technology (DArT) markers, combined with next-generation sequencing, have wide applicability in the construction of high-resolution genetic maps and in quantitative trait locus (QTL) mapping. This study aimed to construct an integrated genetic map using full-sib progeny derived from Murcott tangor and Pera sweet orange and DArTseq™ molecular markers and to perform QTL mapping of twelve fruit quality traits. A controlled Murcott x Pera crossing was conducted at the Citrus Germplasm Repository at the Sylvio Moreira Citrus Centre of the Agronomic Institute (IAC) located in Cordeirópolis, SP, in 1997. In 2012, 278 F individuals out of a family of 312 confirmed hybrid individuals were analyzed for fruit traits and genotyped using the DArTseq markers. Using OneMap software to obtain the integrated genetic map, we considered only the DArT loci that showed no segregation deviation. The likelihood ratio and the genomic information from the available Citrus sinensis L. Osbeck genome were used to determine the linkage groups (LGs). RESULTS: The resulting integrated map contained 661 markers in 13 LGs, with a genomic coverage of 2,774 cM and a mean density of 0.23 markers/cM. The groups were assigned to the nine Citrus haploid chromosomes; however, some of the chromosomes were represented by two LGs due the lack of information for a single integration, as in cases where markers segregated in a 3:1 fashion. A total of 19 QTLs were identified through composite interval mapping (CIM) of the 12 analyzed fruit characteristics: fruit diameter (cm), height (cm), height/diameter ratio, weight (g), rind thickness (cm), segments per fruit, total soluble solids (TSS, %), total titratable acidity (TTA, %), juice content (%), number of seeds, TSS/TTA ratio and number of fruits per box. The genomic sequence (pseudochromosomes) of C. sinensis was compared to the genetic map, and synteny was clearly identified. Further analysis of the map regions with the highest LOD scores enabled the identification of putative genes that could be associated with the fruit quality characteristics. CONCLUSION: An integrated linkage map of Murcott tangor and Pera sweet orange using DArTseq™ molecular markers was established and it was useful to perform QTL mapping of twelve fruit quality traits. The next generation sequences data allowed the comparison between the linkage map and the genomic sequence (pseudochromosomes) of C. sinensis and the identification of genes that may be responsible for phenotypic traits in Citrus. The obtained linkage map was used to assign sequences that had not been previously assigned to a position in the reference genome.
[Mh] Termos MeSH primário: Mapeamento Cromossômico/métodos
Citrus/genética
Marcadores Genéticos
Locos de Características Quantitativas
[Mh] Termos MeSH secundário: Cromossomos de Plantas/genética
Citrus/classificação
Frutas/genética
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Escore Lod
Fenótipo
Melhoramento Vegetal
Análise de Sequência de DNA/métodos
Software
Sintenia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171120
[Lr] Data última revisão:
171120
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170414
[St] Status:MEDLINE
[do] DOI:10.1186/s12864-017-3629-2


  4 / 6059 MEDLINE  
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[PMID]:28070759
[Au] Autor:Han Z; Hu W; Tan C; Xing Y
[Ad] Endereço:National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan, 430070, China.
[Ti] Título:QTLs for heading date and plant height under multiple environments in rice.
[So] Source:Genetica;145(1):67-77, 2017 Feb.
[Is] ISSN:1573-6857
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Both heading date and plant height are important traits related to grain yield in rice. In this study, a recombinant inbred lines (RILs) population was used to map quantitative trait loci (QTLs) for both traits under 3 long-day (LD) environments and 1 short-day (SD) environment. A total of eight QTLs for heading date and three QTLs for plant height were detected by composite interval mapping under LD conditions. Additional one QTL for heading date and three QTLs for plant height were identified by Two-QTL model under LD conditions. Among them, major QTLs qHd7.1, qHd7.2 and qHd8 for heading date, and qPh1 and qPh7.1 for plant height were commonly detected. qHd7.1 and qHd7.2 were mapped to small regions of less than 1 cM. Genome position comparison of previously cloned genes with QTLs detected in this study revealed that qHd5 and qPh3.1 were two novel QTLs. The alleles of these QTLs increasing trait values were dispersed in both parents, which well explained the transgressive segregation observed in this population. In addition, the interaction between qHd7.1 and qHd8 was detected under all LD conditions. Multiple-QTL model analysis revealed that all QTLs and their interactions explained over 80% of heading date variation and 50% of plant height variation. Two heading date QTLs were detected under SD condition. Of them, qHd10 were commonly identified under LD condition. The difference in QTL detection between LD and SD conditions indicated most heading date QTLs are sensitive to photoperiod. These findings will benefit breeding design for heading date and plant height in rice.
[Mh] Termos MeSH primário: Meio Ambiente
Oryza/genética
Locos de Características Quantitativas
Característica Quantitativa Herdável
[Mh] Termos MeSH secundário: Mapeamento Cromossômico
Cromossomos de Plantas
Cruzamentos Genéticos
Epistasia Genética
Interação Gene-Ambiente
Estudos de Associação Genética
Escore Lod
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.1007/s10709-016-9946-6


  5 / 6059 MEDLINE  
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[PMID]:28067407
[Au] Autor:Tabb KL; Hellwege JN; Palmer ND; Dimitrov L; Sajuthi S; Taylor KD; Ng MC; Hawkins GA; Chen YI; Brown WM; McWilliams D; Williams A; Lorenzo C; Norris JM; Long J; Rotter JI; Curran JE; Blangero J; Wagenknecht LE; Langefeld CD; Bowden DW
[Ad] Endereço:Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.
[Ti] Título:Analysis of Whole Exome Sequencing with Cardiometabolic Traits Using Family-Based Linkage and Association in the IRAS Family Study.
[So] Source:Ann Hum Genet;81(2):49-58, 2017 Mar.
[Is] ISSN:1469-1809
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Family-based methods are a potentially powerful tool to identify trait-defining genetic variants in extended families, particularly when used to complement conventional association analysis. We utilized two-point linkage analysis and single variant association analysis to evaluate whole exome sequencing (WES) data from 1205 Hispanic Americans (78 families) from the Insulin Resistance Atherosclerosis Family Study. WES identified 211,612 variants above the minor allele frequency threshold of ≥0.005. These variants were tested for linkage and/or association with 50 cardiometabolic traits after quality control checks. Two-point linkage analysis yielded 10,580,600 logarithm of the odds (LOD) scores with 1148 LOD scores ≥3, 183 LOD scores ≥4, and 29 LOD scores ≥5. The maximal novel LOD score was 5.50 for rs2289043:T>C, in UNC5C with subcutaneous adipose tissue volume. Association analysis identified 13 variants attaining genome-wide significance (P < 5 × 10 ), with the strongest association between rs651821:C>T in APOA5 and triglyceride levels (P = 3.67 × 10 ). Overall, there was a 5.2-fold increase in the number of informative variants detected by WES compared to exome chip analysis in this population, nearly 30% of which were novel variants relative to the Database of Single Nucleotide Polymorphisms (dbSNP) build 138. Thus, integration of results from two-point linkage and single-variant association analysis from WES data enabled identification of novel signals potentially contributing to cardiometabolic traits.
[Mh] Termos MeSH primário: Aterosclerose/genética
Exoma
Resistência à Insulina/genética
[Mh] Termos MeSH secundário: Adiponectina/genética
Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Aterosclerose/sangue
Feminino
Frequência do Gene
Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Seres Humanos
Lipídeos/sangue
Escore Lod
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Análise de Sequência de DNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ADIPOQ protein, human); 0 (Adiponectin); 0 (Lipids)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171122
[Lr] Data última revisão:
171122
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170110
[St] Status:MEDLINE
[do] DOI:10.1111/ahg.12184


  6 / 6059 MEDLINE  
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[PMID]:27988808
[Au] Autor:Xu X; Ji J; Xu Q; Qi X; Chen X
[Ad] Endereço:School of Horticulture and Plant Protection, Yangzhou University, Yangzhou, 225009, China.
[Ti] Título:Inheritance and quantitative trail loci mapping of adventitious root numbers in cucumber seedlings under waterlogging conditions.
[So] Source:Mol Genet Genomics;292(2):353-364, 2017 Apr.
[Is] ISSN:1617-4623
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:The hypocotyl-derived adventitious root (AR) is an important morphological acclimation to waterlogging stress; however, its genetic basis has not been adequately understood. In the present study, a mixed major gene plus polygene inheritance model was used to analyze AR numbers (ARN) 7 days after waterlogging treatment in six generations (P , P , F , B , B and F ), using cucumber waterlogging tolerant line Zaoer-N and sensitive Pepino as parents. The results showed that the genetic model D-4, mixed one negative dominance major gene and additive-dominance polygenes, is the best-fitting genetic model for waterlogging-triggered ARN phenotype. A genetic linkage map spanning 550.8 cM and consisting of 149 simple sequence repeat (SSR) markers segregating into seven linkage groups was constructed. Three QTLs (ARN3.1, ARN5.1, and ARN6.1) distributed on chromosomes 3, 5, and 6 were identified by composite interval mapping. The major-effect QTL, ARN6.1, located between SSR12898 and SSR04751, was the only locus detected in three seasons, with least likelihood (LOD) scores of 8.8, 10.4, and 9.5 and account for 17.6, 24, and 19.8% of the phenotypic variance, respectively. Using five additional single nucleotide polymorphism (SNP) makers, the ARN6.1 was narrowed down to a 0.79 Mb interval franked by SSR12898 and SNP25558853. Illumina RNA-sequencing data generated on hypocotyls of two parents 48 h after waterlogging treatment revealed 15 genes in the 0.79 Mb interval were differentially expressed, including Csa6G503880 encoding a salicylic acid methyl transferase-like protein, Csa6G504590 encoding a cytochrome P450 monooxygenase, and Csa6G505230 encoding a heavy metal-associated protein. Our findings shed light on the genetic architecture underlying adventitious rooting during waterlogging stress in cucumber, and provide a list of potential gene targets for further elucidating waterlogging tolerance in plants.
[Mh] Termos MeSH primário: Cucumis sativus/genética
Raízes de Plantas/crescimento & desenvolvimento
Locos de Características Quantitativas
Plântulas/genética
[Mh] Termos MeSH secundário: Mapeamento Cromossômico
Cromossomos de Plantas
Bases de Dados Genéticas
Genes Dominantes
Genes de Plantas
Ligação Genética
Genótipo
Escore Lod
Repetições de Microssatélites
Modelos Genéticos
Fenótipo
Raízes de Plantas/genética
Polimorfismo de Nucleotídeo Único
Estações do Ano
Análise de Sequência de DNA
Análise de Sequência de RNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161219
[St] Status:MEDLINE
[do] DOI:10.1007/s00438-016-1280-2


  7 / 6059 MEDLINE  
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[PMID]:27762075
[Au] Autor:Yang BZ; Han S; Kranzler HR; Palmer AA; Gelernter J
[Ad] Endereço:Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut.
[Ti] Título:Sex-specific linkage scans in opioid dependence.
[So] Source:Am J Med Genet B Neuropsychiatr Genet;174(3):261-268, 2017 Apr.
[Is] ISSN:1552-485X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sex influences risk for opioid dependence (OD). We hypothesized that sex might interact with genetic loci that influence the risk for OD. Therefore we performed an analysis to identify sex-specific genomic susceptibility regions for OD using linkage. Over 6,000 single nucleotide polymorphism (SNP) markers were genotyped for 1,758 African- and European-American (AA and EA) individuals from 739 families, ascertained via affected sib-pairs with OD and/or cocaine dependence. Autosomewide non-parametric linkage scans, stratified by sex and population, were performed. We identified one significant linkage region, segregating with OD in EA men, at 71.1 cM on chromosome 4 (LOD = 3.29; point-wise P = 0.00005; empirical autosome-wide P = 0.042), which significantly differed from the linkage signal at the same location in EA women (empirical P = 0.002). Three suggestive linkage signals were identified at 181.3 cM on chromosome 7 (LOD = 2.18), 104 cM on chromosome 11 (LOD = 1.85), and 60.9 cM on chromosome 16 (LOD = 1.93) in EA women. In AA men, four suggestive linkage signals were detected at 201.1 cM on chromosome 3 (LOD = 2.32), 152.9 cM on chromosome 6 (LOD = 1.86), 16.8 cM on chromosome 7 (LOD = 1.95), and 36.1 cM on chromosome 17 (LOD = 1.99). The significant region, mapping to 4q12-4q13.1, harbors several OD candidate genes with interconnected functionality, including VEGFR, CLOCK, PDCL2, NMU, NRSF, and IGFBP7. In conclusion, these results provide an evidence for the existence of sex-specific and population-specific differences in OD. Furthermore, these results provide positional information that will facilitate the use of targeted next-generation sequencing to search for genes that contribute to sex-specific differences in OD. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Transtornos Relacionados ao Uso de Cocaína/genética
Transtornos Relacionados ao Uso de Opioides/genética
[Mh] Termos MeSH secundário: Adulto
Afroamericanos/genética
Grupo com Ancestrais do Continente Africano/genética
Mapeamento Cromossômico/métodos
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Ligação Genética/genética
Loci Gênicos/genética
Predisposição Genética para Doença/genética
Estudo de Associação Genômica Ampla/métodos
Seres Humanos
Escore Lod
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único/genética
Fatores de Risco
Fatores Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171121
[Lr] Data última revisão:
171121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.b.32507


  8 / 6059 MEDLINE  
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[PMID]:27535031
[Au] Autor:Hellwege JN; Palmer ND; Dimitrov L; Keaton JM; Tabb KL; Sajuthi S; Taylor KD; Ng MC; Speliotes EK; Hawkins GA; Long J; Ida Chen YD; Lorenzo C; Norris JM; Rotter JI; Langefeld CD; Wagenknecht LE; Bowden DW
[Ad] Endereço:Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.
[Ti] Título:Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans.
[So] Source:J Hum Genet;62(2):175-184, 2017 Feb.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Linkage studies of complex genetic diseases have been largely replaced by genome-wide association studies, due in part to limited success in complex trait discovery. However, recent interest in rare and low-frequency variants motivates re-examination of family-based methods. In this study, we investigated the performance of two-point linkage analysis for over 1.6 million single-nucleotide polymorphisms (SNPs) combined with single variant association analysis to identify high impact variants, which are both strongly linked and associated with cardiometabolic traits in up to 1414 Hispanics from the Insulin Resistance Atherosclerosis Family Study (IRASFS). Evaluation of all 50 phenotypes yielded 83 557 000 LOD (logarithm of the odds) scores, with 9214 LOD scores ⩾3.0, 845 ⩾4.0 and 89 ⩾5.0, with a maximal LOD score of 6.49 (rs12956744 in the LAMA1 gene for tumor necrosis factor-α (TNFα) receptor 2). Twenty-seven variants were associated with P<0.005 as well as having an LOD score >4, including variants in the NFIB gene under a linkage peak with TNFα receptor 2 levels on chromosome 9. Linkage regions of interest included a broad peak (31 Mb) on chromosome 1q with acute insulin response (max LOD=5.37). This region was previously documented with type 2 diabetes in family-based studies, providing support for the validity of these results. Overall, we have demonstrated the utility of two-point linkage and association in comprehensive genome-wide array-based SNP genotypes.
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 2/genética
Ligação Genética/genética
Resistência à Insulina/genética
Laminina/genética
Fatores de Transcrição NFI/genética
Fator de Necrose Tumoral alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Estudo de Associação Genômica Ampla
Genótipo
Hispano-Americanos/genética
Seres Humanos
Escore Lod
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Laminin); 0 (NFI Transcription Factors); 0 (NFIB protein, human); 0 (Tumor Necrosis Factor-alpha); 151186-83-3 (laminin A)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170524
[Lr] Data última revisão:
170524
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160819
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.103


  9 / 6059 MEDLINE  
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[PMID]:27096259
[Au] Autor:Yazar S; Franchina M; Craig JE; Burdon KP; Mackey DA
[Ad] Endereço:a Centre for Ophthalmology and Visual Science/Lions Eye Institute, University of Western Australia , Perth , Western Australia , Australia.
[Ti] Título:Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
[So] Source:Ophthalmic Genet;38(2):171-174, 2017 Mar-Apr.
[Is] ISSN:1744-5094
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant Mendelian disorder characterized by early onset cataracts and elevated levels of serum ferritin in the absence of iron overload. Numerous mutations associated with the development of HHCS have been reported in the 5' non-coding region of the ferritin light chain (FTL) gene in family studies. We present an FTL mutation in an Australian family with 10 HHCS-affected members spanning three generations. MATERIALS AND METHODS: Blood and saliva samples were collected from affected and unaffected family members and DNA was extracted using commercially available kits (Qiagen). The complete sequencing of the iron-responsive element (IRE) of the FTL gene was analyzed using bi-directional genomic sequencing. RESULTS: A heterozygous single nucleotide substitution (c.-167 C>T) was identified in the proband and five affected family members (logarithm of the odds score [Z] = 3.61, recombination distance [θ = 0]). All affected individuals had previously been found to have high ferritin levels and early onset cataracts. CONCLUSION: This is the first Australian report of the c.-167 C>T mutation in a large family with multiple affected individuals. This finding raises the possibility that identification of HHCS mutations may be an effective means of disease detection and may aid in facilitating appropriate genetic counseling.
[Mh] Termos MeSH primário: Apoferritinas/genética
Catarata/congênito
Distúrbios do Metabolismo do Ferro/congênito
Mutação Puntual
[Mh] Termos MeSH secundário: Adulto
Idoso
Austrália
Sequência de Bases
Catarata/diagnóstico
Catarata/genética
Feminino
Seres Humanos
Distúrbios do Metabolismo do Ferro/diagnóstico
Distúrbios do Metabolismo do Ferro/genética
Escore Lod
Masculino
Meia-Idade
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9013-31-4 (Apoferritins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160421
[St] Status:MEDLINE
[do] DOI:10.3109/13816810.2016.1164195


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Fotocópia
[PMID]:27994203
[Au] Autor:Shi Y; Li G; Tian Z; Wang Z; Wang X; Zhu Y; Chen Y; Guo S; Qi J; Zhang X; Ku L
[Ad] Endereço:College of Agronomy, Collaborative Innovation Center of Henan Grain Crops and National Key Laboratory of Wheat and Maize Crop Science, Henan Agricultural University, Zhengzhou, Henan 450002, People's Republic of China. kulixia0371@163.com.
[Ti] Título:Genetic dissection of seed vigour traits in maize (Zea mays L.) under low-temperature conditions.
[So] Source:J Genet;95(4):1017-1022, 2016 Dec.
[Is] ISSN:0973-7731
[Cp] País de publicação:India
[La] Idioma:eng
[Mh] Termos MeSH primário: Temperatura Baixa
Estudos de Associação Genética
Locos de Características Quantitativas
Característica Quantitativa Herdável
Sementes/genética
Zea mays/genética
[Mh] Termos MeSH secundário: Mapeamento Cromossômico
Cruzamentos Genéticos
Ligação Genética
Endogamia
Escore Lod
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161221
[St] Status:MEDLINE



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