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Sample records for genetic load linked

  1. Fifty years of genetic load

    International Nuclear Information System (INIS)

    Wallace, B.

    1991-01-01

    This book discusses the radiation effects on Drosophila. It was originally thought that irradiating Drosophila would decrease the average fitness of the population, thereby leading to information about the detrimental effects of mutations. Surprisingly, the fitness of the irradiated population turned out to be higher than that of the control population. The original motivation for the experiment was as a test of genetic load theory. The average fitness of a population is depressed by deleterious alleles held in the population by the balance between mutation and natural selection. The depression is called the genetic load of the population. The load dose not depend on the magnitude of the deleterious effect of alleles, but only on the mutation rate

  2. Genetic loading on human loving styles.

    Science.gov (United States)

    Emanuele, Enzo; Brondino, Natascia; Pesenti, Sara; Re, Simona; Geroldi, Diego

    2007-12-01

    It has been hypothesized that cerebral neurotransmitters such as dopamine and serotonin could play a role in human romantic bonding. However, no data on the genetic basis of human romantic love are currently available. To address this issue, we looked for associations between markers in neurotransmitter genes (the serotonin transporter gene, 5-HTT; the serotonin receptor 2A, 5HT2A; the dopamine D2 receptor gene, DRD2; and the dopamine D4 receptor gene, DRD4) and the six styles of love as conceptualized by Lee (Eros, Ludus, Storge, Pragma, Mania and Agape). A total of 350 healthy young adults (165 males and 185 females, mean age: 24.1+/-3.9 years, range 18-32 years) filled the 24-item Love Attitudes Scale (LAS) and were genotyped for the following six polymorphic markers: the serotonin transporter-linked polymorphic region (5-HTTLPR), the 5HT2A T102C and C516T polymorphisms, the DRD2 TaqI A and TaqI B variants, and the DRD4 exon 3 VNTR polymorphism. Statistical analysis revealed a significant association between the DRD2 TaqI A genotypes and "Eros" (a loving style characterized by a tendency to develop intense emotional experiences based on the physical attraction to the partner), as well as between the C516T 5HT2A polymorphism and "Mania" (a possessive and dependent romantic attachment, characterized by self-defeating emotions). These associations were present in both sexes and remained significant even after adjustment for potential confounders. Our data provide the first evidence of a possible genetic loading on human loving styles.

  3. Genetic algorithms in loading pattern optimization

    International Nuclear Information System (INIS)

    Yilmazbayhan, A.; Tombakoglu, M.; Bekar, K. B.; Erdemli, A. Oe

    2001-01-01

    Genetic Algorithm (GA) based systems are used for the loading pattern optimization. The use of Genetic Algorithm operators such as regional crossover, crossover and mutation, and selection of initial population size for PWRs are discussed. Antithetic variates are used to generate the initial population. The performance of GA with antithetic variates is compared to traditional GA. The results of multi-cycle optimization are discussed for objective function taking into account cycle burn-up and discharge burn-up

  4. Genetics Home Reference: X-linked acrogigantism

    Science.gov (United States)

    ... that is caused by pituitary gland abnormalities (pituitary gigantism). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  5. Linking unfounded beliefs to genetic dopamine availability

    Science.gov (United States)

    Schmack, Katharina; Rössler, Hannes; Sekutowicz, Maria; Brandl, Eva J.; Müller, Daniel J.; Petrovic, Predrag; Sterzer, Philipp

    2015-01-01

    Unfounded convictions involving beliefs in the paranormal, grandiosity ideas or suspicious thoughts are endorsed at varying degrees among the general population. Here, we investigated the neurobiopsychological basis of the observed inter-individual variability in the propensity toward unfounded beliefs. One hundred two healthy individuals were genotyped for four polymorphisms in the COMT gene (rs6269, rs4633, rs4818, and rs4680, also known as val158met) that define common functional haplotypes with substantial impact on synaptic dopamine degradation, completed a questionnaire measuring unfounded beliefs, and took part in a behavioral experiment assessing perceptual inference. We found that greater dopamine availability was associated with a stronger propensity toward unfounded beliefs, and that this effect was statistically mediated by an enhanced influence of expectations on perceptual inference. Our results indicate that genetic differences in dopaminergic neurotransmission account for inter-individual differences in perceptual inference linked to the formation and maintenance of unfounded beliefs. Thus, dopamine might be critically involved in the processes underlying one's interpretation of the relationship between the self and the world. PMID:26483654

  6. Linking unfounded beliefs to genetic dopamine availability

    Directory of Open Access Journals (Sweden)

    Katharina eSchmack

    2015-09-01

    Full Text Available Unfounded convictions involving beliefs in the paranormal, grandiosity ideas or suspicious thoughts are endorsed at varying degrees among the general population. Here, we investigated the neurobiopsychological basis of the observed inter-individual variability in the propensity towards unfounded beliefs. 109 healthy individuals were genotyped for four polymorphisms in the COMT gene (rs6269, rs4633, rs4818 and rs4680, also known as val158met that define common functional haplotypes with substantial impact on synaptic dopamine degradation, completed a questionnaire measuring unfounded beliefs, and took part in a behavioural experiment assessing perceptual inference. We found that greater dopamine availability was associated with a stronger propensity towards unfounded beliefs, and that this effect was mediated by an enhanced influence of expectations on perceptual inference. Our results indicate that genetic differences in dopaminergic neurotransmission account for inter-individual differences in perceptual inference linked to the formation and maintenance of unfounded beliefs. Thus, dopamine might be critically involved in the processes underlying one's interpretation of the relationship between the self and the world.

  7. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  8. Genetics Home Reference: X-linked thrombocytopenia

    Science.gov (United States)

    ... Benson EM. Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

  9. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  10. Immunocompetence in Drosophila: linking genetic to phenotypic ...

    Indian Academy of Sciences (India)

    Unknown

    ally infected with the gram-negative bacterium Serratia marcescens at different times of the day (morning or even- ing). The pathogen load was subsequently determined by crushing the flies followed by quantitative plating (colony count) at 7, 15, 26 and 39 h after infection. The results showed that line (second chromosome) ...

  11. AMD genetics in India: The missing links

    Directory of Open Access Journals (Sweden)

    Akshay eAnand

    2016-05-01

    Full Text Available Age related macular degeneration is a disease condition which occurs in aged peoples. There are various changes occurs at the cellular, molecular and physiological levels with age (Kaushal et al, 2013; Samiec et al 1988. Drusen deposition between RPE and Bruch’s membrane is one of the key features in AMD patients (Mullins RF et al, 2000; Hagemana et al, 2001 as Aβ/tau aggregates in AD patients. The primary goal of this review is to discuss whether the various candidate genes and associated biomarkers, that are supposed to play an independent role in progression of AMD, exert deleterious effect on phenotype, alone or in combination, in Indian AMD patients from the same ethnic group. A statistical model for probable interaction between genes could also be derived from such analysis. We can use multiple modalities to identify and enrol AMD patients based on established clinical criteria and examine the risk factors to determine if these genes are associated with risk factors, biomarkers or disease by Mendelian randomization. Similarly, there are large numbers of single nucleotide polymorphisms (SNPs identified in human population. Even non-synonymous SNPs (nsSNPs are believed to induce deleterious effects on the functionality of various proteins. The study of such snSNPs could provide a better genetic insight for diverse phenotypes of AMD patients, predicting significant risk factors for the disease. Therefore, the prediction of biological effect of nsSNPs in the candidate genes is highly solicited.Therefore, genotyping and levels of protein expression of various genes would provide bigger canvas in genetic complexity of AMD pathology which should be evaluated by valid statistical and bioinformatics’ tools. Longitudinal follow up of Indian AMD patients to evaluate the temporal effect of SNPs and biomarkers on progression of disease could also provide unique strategy in the field.

  12. Quantitative microbiome profiling links gut community variation to microbial load.

    Science.gov (United States)

    Vandeputte, Doris; Kathagen, Gunter; D'hoe, Kevin; Vieira-Silva, Sara; Valles-Colomer, Mireia; Sabino, João; Wang, Jun; Tito, Raul Y; De Commer, Lindsey; Darzi, Youssef; Vermeire, Séverine; Falony, Gwen; Raes, Jeroen

    2017-11-23

    Current sequencing-based analyses of faecal microbiota quantify microbial taxa and metabolic pathways as fractions of the sample sequence library generated by each analysis. Although these relative approaches permit detection of disease-associated microbiome variation, they are limited in their ability to reveal the interplay between microbiota and host health. Comparative analyses of relative microbiome data cannot provide information about the extent or directionality of changes in taxa abundance or metabolic potential. If microbial load varies substantially between samples, relative profiling will hamper attempts to link microbiome features to quantitative data such as physiological parameters or metabolite concentrations. Saliently, relative approaches ignore the possibility that altered overall microbiota abundance itself could be a key identifier of a disease-associated ecosystem configuration. To enable genuine characterization of host-microbiota interactions, microbiome research must exchange ratios for counts. Here we build a workflow for the quantitative microbiome profiling of faecal material, through parallelization of amplicon sequencing and flow cytometric enumeration of microbial cells. We observe up to tenfold differences in the microbial loads of healthy individuals and relate this variation to enterotype differentiation. We show how microbial abundances underpin both microbiota variation between individuals and covariation with host phenotype. Quantitative profiling bypasses compositionality effects in the reconstruction of gut microbiota interaction networks and reveals that the taxonomic trade-off between Bacteroides and Prevotella is an artefact of relative microbiome analyses. Finally, we identify microbial load as a key driver of observed microbiota alterations in a cohort of patients with Crohn's disease, here associated with a low-cell-count Bacteroides enterotype (as defined through relative profiling).

  13. GENETIC ALGORITHM BASED CONCEPT DESIGN TO OPTIMIZE NETWORK LOAD BALANCE

    Directory of Open Access Journals (Sweden)

    Ashish Jain

    2012-07-01

    Full Text Available Multiconstraints optimal network load balancing is an NP-hard problem and it is an important part of traffic engineering. In this research we balance the network load using classical method (brute force approach and dynamic programming is used but result shows the limitation of this method but at a certain level we recognized that the optimization of balanced network load with increased number of nodes and demands is intractable using the classical method because the solution set increases exponentially. In such case the optimization techniques like evolutionary techniques can employ for optimizing network load balance. In this paper we analyzed proposed classical algorithm and evolutionary based genetic approach is devise as well as proposed in this paper for optimizing the balance network load.

  14. Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

    Energy Technology Data Exchange (ETDEWEB)

    Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

    1974-01-01

    The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general.

  15. Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

    International Nuclear Information System (INIS)

    Freire-Maia, A.

    1974-01-01

    The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general [pt

  16. Optimal design of link systems using successive zooming genetic algorithm

    Science.gov (United States)

    Kwon, Young-Doo; Sohn, Chang-hyun; Kwon, Soon-Bum; Lim, Jae-gyoo

    2009-07-01

    Link-systems have been around for a long time and are still used to control motion in diverse applications such as automobiles, robots and industrial machinery. This study presents a procedure involving the use of a genetic algorithm for the optimal design of single four-bar link systems and a double four-bar link system used in diesel engine. We adopted the Successive Zooming Genetic Algorithm (SZGA), which has one of the most rapid convergence rates among global search algorithms. The results are verified by experiment and the Recurdyn dynamic motion analysis package. During the optimal design of single four-bar link systems, we found in the case of identical input/output (IO) angles that the initial and final configurations show certain symmetry. For the double link system, we introduced weighting factors for the multi-objective functions, which minimize the difference between output angles, providing balanced engine performance, as well as the difference between final output angle and the desired magnitudes of final output angle. We adopted a graphical method to select a proper ratio between the weighting factors.

  17. Genetic algorithms and artificial neural networks for loading pattern optimisation of advanced gas-cooled reactors

    Energy Technology Data Exchange (ETDEWEB)

    Ziver, A.K. E-mail: a.k.ziver@imperial.ac.uk; Pain, C.C; Carter, J.N.; Oliveira, C.R.E. de; Goddard, A.J.H.; Overton, R.S

    2004-03-01

    A non-generational genetic algorithm (GA) has been developed for fuel management optimisation of Advanced Gas-Cooled Reactors, which are operated by British Energy and produce around 20% of the UK's electricity requirements. An evolutionary search is coded using the genetic operators; namely selection by tournament, two-point crossover, mutation and random assessment of population for multi-cycle loading pattern (LP) optimisation. A detailed description of the chromosomes in the genetic algorithm coded is presented. Artificial Neural Networks (ANNs) have been constructed and trained to accelerate the GA-based search during the optimisation process. The whole package, called GAOPT, is linked to the reactor analysis code PANTHER, which performs fresh fuel loading, burn-up and power shaping calculations for each reactor cycle by imposing station-specific safety and operational constraints. GAOPT has been verified by performing a number of tests, which are applied to the Hinkley Point B and Hartlepool reactors. The test results giving loading pattern (LP) scenarios obtained from single and multi-cycle optimisation calculations applied to realistic reactor states of the Hartlepool and Hinkley Point B reactors are discussed. The results have shown that the GA/ANN algorithms developed can help the fuel engineer to optimise loading patterns in an efficient and more profitable way than currently available for multi-cycle refuelling of AGRs. Research leading to parallel GAs applied to LP optimisation are outlined, which can be adapted to present day LWR fuel management problems.

  18. Hypothetical link between infertility and genetically modified food.

    Science.gov (United States)

    Gao, Mingxia; Li, Bin; Yuan, Wenzhen; Zhao, Lihui; Zhang, Xuehong

    2014-01-01

    It is speculated that genetically modified food (GMF)/genetically modified organism (GMO) is responsible for infertility development. The risk linked with a wide use of GMFs/GMOs offers the basic elements for social criticism. However, to date, it has not been justified whether the bad effects are directly resulted from products of genetic modifications or trans-genesis process. Extensive experience with the risk assessment of whole foods has been applied recently on the safety and nutritional testing of GMFs/GMOs. Investigations have tested the safety of GMFs including sub-acute, chronic, reproductive, multi-generation and carcinogenicity studies. We extrapolated the potential risks associated with GMFs/GMOs on reproduction, and analyzed the multi-aspect linked between infertility and GMFs/GMOs. It could be conjectured that GMFs/GMOs could be potential hazard on reproduction, linking to the development of infertility through influencing the endocrine metabolism, endometriosis. However, little evidence shows the impaction on embryo or reproductive related tumor due to the limited literatures, and needs further research. The article presents some related patents on GMFs/GMOs, and some methods for tracking GMOs.

  19. Human genetics studies in areas of high natural radiation. VII. Genetic load

    Energy Technology Data Exchange (ETDEWEB)

    Freire-Maia, A [Faculdade de Ciencias Medicas e Biologicas de Botucatu (Brazil). Departamento de Genetica

    1975-01-01

    Two methods to estimate the inbreeding load, employed in our analysis, are reviewed. Besides the total population, a sample constituted of individuals with no alien ancesters is also analyzed. The measurements by genetic load models show a clear effect of natural radioactivity (especially for abortions, pre-natal mortality, anomalies, and abnormalities in general). The results on stillbirths and post-natal and total mortalities are discussed and it is concluded that uncontrolled concomitant variables (if not chance alone) cause the differences.

  20. Intelligent DNA-based molecular diagnostics using linked genetic markers

    Energy Technology Data Exchange (ETDEWEB)

    Pathak, D.K.; Perlin, M.W.; Hoffman, E.P.

    1994-12-31

    This paper describes a knowledge-based system for molecular diagnostics, and its application to fully automated diagnosis of X-linked genetic disorders. Molecular diagnostic information is used in clinical practice for determining genetic risks, such as carrier determination and prenatal diagnosis. Initially, blood samples are obtained from related individuals, and PCR amplification is performed. Linkage-based molecular diagnosis then entails three data analysis steps. First, for every individual, the alleles (i.e., DNA composition) are determined at specified chromosomal locations. Second, the flow of genetic material among the individuals is established. Third, the probability that a given individual is either a carrier of the disease or affected by the disease is determined. The current practice is to perform each of these three steps manually, which is costly, time consuming, labor-intensive, and error-prone. As such, the knowledge-intensive data analysis and interpretation supersede the actual experimentation effort as the major bottleneck in molecular diagnostics. By examining the human problem solving for the task, we have designed and implemented a prototype knowledge-based system capable of fully automating linkage-based molecular diagnostics in X-linked genetic disorders, including Duchenne Muscular Dystrophy (DMD). Our system uses knowledge-based interpretation of gel electrophoresis images to determine individual DNA marker labels, a constraint satisfaction search for consistent genetic flow among individuals, and a blackboard-style problem solver for risk assessment. We describe the system`s successful diagnosis of DMD carrier and affected individuals from raw clinical data.

  1. Genetic evidence linking lung cancer and COPD: a new perspective

    Directory of Open Access Journals (Sweden)

    Crapo JD

    2011-07-01

    Full Text Available Robert P Young1,4, Raewyn J Hopkins1, Gregory D Gamble1, Carol Etzel2, Randa El-Zein2, James D Crapo31Department of Medicine and School of Biological Sciences, University of Auckland, Auckland, New Zealand; 2Department of Epidemiology, UT MD Anderson Cancer Center, Houston, TX, USA; 3National Jewish Health, Denver, CO, USA; 4Synergenz Biosciences Ltd, Auckland, New ZealandAbstract: Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD and lung cancer. However, genetic factors may explain why 10%–30% of smokers develop these complications. This perspective reviews the evidence suggesting that COPD is closely linked to susceptibility to lung cancer and outlines the potential relevance of this observation. Epidemiological studies show that COPD is the single most important risk factor for lung cancer among smokers and predates lung cancer in up to 80% of cases. Genome-wide association studies of lung cancer, lung function, and COPD have identified a number of overlapping “susceptibility” loci. With stringent phenotyping, it has recently been shown that several of these overlapping loci are independently associated with both COPD and lung cancer. These loci implicate genes underlying pulmonary inflammation and apoptotic processes mediated by the bronchial epithelium, and link COPD with lung cancer at a molecular genetic level. It is currently possible to derive risk models for lung cancer that incorporate lung cancer-specific genetic variants, recently identified “COPD-related” genetic variants, and clinical variables. Early studies suggest that single nucleotide polymorphism-based risk stratification of smokers might help better target novel prevention and early diagnostic strategies in lung cancer.Keywords: lung cancer, chronic obstructive pulmonary disease, association study, single nucleotide polymorphism, risk model

  2. Find the weakest link. A comparison between demographic, genetic and demo-genetic metapopulation extinction times

    Directory of Open Access Journals (Sweden)

    Robert Alexandre

    2011-09-01

    Full Text Available Abstract Background While the ultimate causes of most species extinctions are environmental, environmental constraints have various secondary consequences on evolutionary and ecological processes. The roles of demographic, genetic mechanisms and their interactions in limiting the viabilities of species or populations have stirred much debate and remain difficult to evaluate in the absence of demography-genetics conceptual and technical framework. Here, I computed projected times to metapopulation extinction using (1 a model focusing on the effects of species properties, habitat quality, quantity and temporal variability on the time to demographic extinction; (2 a genetic model focusing on the dynamics of the drift and inbreeding loads under the same species and habitat constraints; (3 a demo-genetic model accounting for demographic-genetic processes and feedbacks. Results Results indicate that a given population may have a high demographic, but low genetic viability or vice versa; and whether genetic or demographic aspects will be the most limiting to overall viability depends on the constraints faced by the species (e.g., reduction of habitat quantity or quality. As a consequence, depending on metapopulation or species characteristics, incorporating genetic considerations to demographically-based viability assessments may either moderately or severely reduce the persistence time. On the other hand, purely genetically-based estimates of species viability may either underestimate (by neglecting demo-genetic interactions or overestimate (by neglecting the demographic resilience true viability. Conclusion Unbiased assessments of the viabilities of species may only be obtained by identifying and considering the most limiting processes (i.e., demography or genetics, or, preferentially, by integrating them.

  3. Multicycle Optimization of Advanced Gas-Cooled Reactor Loading Patterns Using Genetic Algorithms

    International Nuclear Information System (INIS)

    Ziver, A. Kemal; Carter, Jonathan N.; Pain, Christopher C.; Oliveira, Cassiano R.E. de; Goddard, Antony J. H.; Overton, Richard S.

    2003-01-01

    A genetic algorithm (GA)-based optimizer (GAOPT) has been developed for in-core fuel management of advanced gas-cooled reactors (AGRs) at HINKLEY B and HARTLEPOOL, which employ on-load and off-load refueling, respectively. The optimizer has been linked to the reactor analysis code PANTHER for the automated evaluation of loading patterns in a two-dimensional geometry, which is collapsed from the three-dimensional reactor model. GAOPT uses a directed stochastic (Monte Carlo) algorithm to generate initial population members, within predetermined constraints, for use in GAs, which apply the standard genetic operators: selection by tournament, crossover, and mutation. The GAOPT is able to generate and optimize loading patterns for successive reactor cycles (multicycle) within acceptable CPU times even on single-processor systems. The algorithm allows radial shuffling of fuel assemblies in a multicycle refueling optimization, which is constructed to aid long-term core management planning decisions. This paper presents the application of the GA-based optimization to two AGR stations, which apply different in-core management operational rules. Results obtained from the testing of GAOPT are discussed

  4. Successful biological invasion despite a severe genetic load.

    Directory of Open Access Journals (Sweden)

    Amro Zayed

    2007-09-01

    Full Text Available Understanding the factors that influence the success of ecologically and economically damaging biological invasions is of prime importance. Recent studies have shown that invasive populations typically exhibit minimal, if any, reductions in genetic diversity, suggesting that large founding populations and/or multiple introductions are required for the success of biological invasions, consistent with predictions of the propagule pressure hypothesis. Through population genetic analysis of neutral microsatellite markers and a gene experiencing balancing selection, we demonstrate that the solitary bee Lasioglossum leucozonium experienced a single and severe bottleneck during its introduction from Europe. Paradoxically, the success of L. leucozonium in its introduced range occurred despite the severe genetic load caused by single-locus complementary sex-determination that still turns 30% of female-destined eggs into sterile diploid males, thereby substantially limiting the growth potential of the introduced population. Using stochastic modeling, we show that L. leucozonium invaded North America through the introduction of a very small number of propagules, most likely a singly-mated female. Our results suggest that chance events and ecological traits of invaders are more important than propagule pressure in determining invasion success, and that the vigilance required to prevent invasions may be considerably greater than has been previously considered.

  5. Green IGP Link Weights for Energy-efficiency and Load-balancing in IP Backbone Networks

    OpenAIRE

    Francois, Frederic; Wang, Ning; Moessner, Klaus; Georgoulas, Stylianos; Xu, Ke

    2013-01-01

    The energy consumption of backbone networks has become a primary concern for network operators and regulators due to the pervasive deployment of wired backbone networks to meet the requirements of bandwidth-hungry applications. While traditional optimization of IGP link weights has been used in IP based load-balancing operations, in this paper we introduce a novel link weight setting algorithm, the Green Load-balancing Algorithm (GLA), which is able to jointly optimize both energy efficiency ...

  6. Linking genetic variants of the mineralocorticoid receptor and negative memory bias: Interaction with prior life adversity

    NARCIS (Netherlands)

    Vogel, S.; Gerritsen, L.; Oostrom, I.I.H. van; Arias Vasquez, A.; Rijpkema, M.J.P.; Joels, M.; Franke, B.; Tendolkar, I.; Fernandez, G.S.E.

    2014-01-01

    Substantial research has been conducted investigating the association between life adversity and genetic vulnerability for depression, but clear mechanistic links are rarely identified and investigation often focused on single genetic variants. Complex phenotypes like depression, however, are likely

  7. Genetics Home Reference: X-linked creatine deficiency

    Science.gov (United States)

    ... Health Conditions X-linked creatine deficiency X-linked creatine deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description X-linked creatine deficiency is an inherited disorder that primarily affects ...

  8. Genetics Home Reference: X-linked sideroblastic anemia

    Science.gov (United States)

    ... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

  9. Genetics Home Reference: X-linked sideroblastic anemia and ataxia

    Science.gov (United States)

    ... linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open All Close All ... the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare condition characterized by ...

  10. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

    Directory of Open Access Journals (Sweden)

    Raymond L. Rosales

    2010-10-01

    Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

  11. Pitch link loads reduction of variable speed rotors by variable tuning frequency fluidlastic isolators

    Directory of Open Access Journals (Sweden)

    Han Dong

    2015-10-01

    Full Text Available To reduce the pitch link loads of variable speed rotors, variable tuning frequency fluidlastic isolators are proposed. This isolator utilizes the variation of centrifugal force due to the change of rotor speed to change the tuning port area ratio, which can change the tuning frequency of the isolator. A rotor model including the model of fluidlastic isolator is coupled with a fuselage model to predict the steady responses of the rotor system in forward flight. The aeroelastic analyses indicate that distinct performance improvement in pitch link load control can be achieved by the utilization of variable frequency isolators compared with the constant tuning frequency isolators. The 4/rev (per revolution pitch link load is observed to be reduced by 87.6% compared with the increase of 56.3% by the constant frequency isolator, when the rotor speed is reduced by 16.7%. The isolation ability at different rotor speeds in different flight states is investigated. To achieve overall load reduction within the whole range of rotor speed, the strategy of the variation of tuning frequency is adjusted. The results indicate that the 4/rev pitch link load within the whole rotor speed range is decreased.

  12. Genetics Home Reference: X-linked intellectual disability, Siderius type

    Science.gov (United States)

    ... Cleft Lip and Palate MalaCards: x-linked intellectual disability, siderius type March of Dimes: Cleft Lip and Cleft Palate Merck Manual Consumer Version: Intellectual Disability Orphanet: X-linked intellectual disability, Siderius type Patient ...

  13. Analysis of host genetic diversity and viral entry as sources of between-host variation in viral load

    Science.gov (United States)

    Wargo, Andrew R.; Kell, Alison M.; Scott, Robert J.; Thorgaard, Gary H.; Kurath, Gael

    2012-01-01

    Little is known about the factors that drive the high levels of between-host variation in pathogen burden that are frequently observed in viral infections. Here, two factors thought to impact viral load variability, host genetic diversity and stochastic processes linked with viral entry into the host, were examined. This work was conducted with the aquatic vertebrate virus, Infectious hematopoietic necrosis virus (IHNV), in its natural host, rainbow trout. It was found that in controlled in vivo infections of IHNV, a suggestive trend of reduced between-fish viral load variation was observed in a clonal population of isogenic trout compared to a genetically diverse population of out-bred trout. However, this trend was not statistically significant for any of the four viral genotypes examined, and high levels of fish-to-fish variation persisted even in the isogenic trout population. A decrease in fish-to-fish viral load variation was also observed in virus injection challenges that bypassed the host entry step, compared to fish exposed to the virus through the natural water-borne immersion route of infection. This trend was significant for three of the four virus genotypes examined and suggests host entry may play a role in viral load variability. However, high levels of viral load variation also remained in the injection challenges. Together, these results indicate that although host genetic diversity and viral entry may play some role in between-fish viral load variation, they are not major factors. Other biological and non-biological parameters that may influence viral load variation are discussed.

  14. Damage evolution analysis of coal samples under cyclic loading based on single-link cluster method

    Science.gov (United States)

    Zhang, Zhibo; Wang, Enyuan; Li, Nan; Li, Xuelong; Wang, Xiaoran; Li, Zhonghui

    2018-05-01

    In this paper, the acoustic emission (AE) response of coal samples under cyclic loading is measured. The results show that there is good positive relation between AE parameters and stress. The AE signal of coal samples under cyclic loading exhibits an obvious Kaiser Effect. The single-link cluster (SLC) method is applied to analyze the spatial evolution characteristics of AE events and the damage evolution process of coal samples. It is found that a subset scale of the SLC structure becomes smaller and smaller when the number of cyclic loading increases, and there is a negative linear relationship between the subset scale and the degree of damage. The spatial correlation length ξ of an SLC structure is calculated. The results show that ξ fluctuates around a certain value from the second cyclic loading process to the fifth cyclic loading process, but spatial correlation length ξ clearly increases in the sixth loading process. Based on the criterion of microcrack density, the coal sample failure process is the transformation from small-scale damage to large-scale damage, which is the reason for changes in the spatial correlation length. Through a systematic analysis, the SLC method is an effective method to research the damage evolution process of coal samples under cyclic loading, and will provide important reference values for studying coal bursts.

  15. Allostatic Load Is Linked to Cortical Thickness Changes Depending on Body-Weight Status

    Directory of Open Access Journals (Sweden)

    Jonatan Ottino-González

    2017-12-01

    Full Text Available Objective: Overweight (body mass index or BMI ≥ 25 kg/m2 and stress interact with each other in complex ways. Overweight promotes chronic low-inflammation states, while stress is known to mediate caloric intake. Both conditions are linked to several avoidable health problems and to cognitive decline, brain atrophy, and dementia. Since it was proposed as a framework for the onset of mental illness, the allostatic load model has received increasing attention. Although changes in health and cognition related to overweight and stress are well-documented separately, the association between allostatic load and brain integrity has not been addressed in depth, especially among overweight subjects.Method: Thirty-four healthy overweight-to-obese and 29 lean adults underwent blood testing, neuropsychological examination, and magnetic resonance imaging to assess the relationship between cortical thickness and allostatic load, represented as an index of 15 biomarkers (this is, systolic and diastolic arterial tension, glycated hemoglobin, glucose, creatinine, total cholesterol, HDL and LDL cholesterol, triglycerides, c-reactive protein, interleukin-6, insulin, cortisol, fibrinogen, and leptin.Results: Allostatic load indexes showed widespread positive and negative significant correlations (p < 0.01 with cortical thickness values depending on body-weight status.Conclusion: The increase of allostatic load is linked to changes in the gray matter composition of regions monitoring behavior, sensory-reward processing, and general cognitive function.

  16. Allostatic Load Is Linked to Cortical Thickness Changes Depending on Body-Weight Status

    Science.gov (United States)

    Ottino-González, Jonatan; Jurado, María A.; García-García, Isabel; Segura, Bàrbara; Marqués-Iturria, Idoia; Sender-Palacios, María J.; Tor, Encarnació; Prats-Soteras, Xavier; Caldú, Xavier; Junqué, Carme; Garolera, Maite

    2017-01-01

    Objective: Overweight (body mass index or BMI ≥ 25 kg/m2) and stress interact with each other in complex ways. Overweight promotes chronic low-inflammation states, while stress is known to mediate caloric intake. Both conditions are linked to several avoidable health problems and to cognitive decline, brain atrophy, and dementia. Since it was proposed as a framework for the onset of mental illness, the allostatic load model has received increasing attention. Although changes in health and cognition related to overweight and stress are well-documented separately, the association between allostatic load and brain integrity has not been addressed in depth, especially among overweight subjects. Method: Thirty-four healthy overweight-to-obese and 29 lean adults underwent blood testing, neuropsychological examination, and magnetic resonance imaging to assess the relationship between cortical thickness and allostatic load, represented as an index of 15 biomarkers (this is, systolic and diastolic arterial tension, glycated hemoglobin, glucose, creatinine, total cholesterol, HDL and LDL cholesterol, triglycerides, c-reactive protein, interleukin-6, insulin, cortisol, fibrinogen, and leptin). Results: Allostatic load indexes showed widespread positive and negative significant correlations (p < 0.01) with cortical thickness values depending on body-weight status. Conclusion: The increase of allostatic load is linked to changes in the gray matter composition of regions monitoring behavior, sensory-reward processing, and general cognitive function. PMID:29375342

  17. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  18. Genetics Home Reference: X-linked cardiac valvular dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition congenital valvular heart disease CVD1 filamin-A-associated myxomatous mitral valve disease ... Valves (image) Encyclopedia: Mitral Valve Prolapse Health Topic: Heart Valve Diseases Health Topic: Mitral Valve Prolapse Genetic and Rare ...

  19. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

  20. Genetics Home Reference: X-linked congenital stationary night blindness

    Science.gov (United States)

    ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

  1. Genetics Home Reference: X-linked juvenile retinoschisis

    Science.gov (United States)

    ... in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of ... sides of the retina, resulting in impaired peripheral vision. Some individuals with X-linked juvenile retinoschisis do ...

  2. Missing Links in Genes to Traits: Toward Teaching for an Integrated Framework of Genetics

    Science.gov (United States)

    Pavlova, Iglika V.; Kreher, Scott A.

    2013-01-01

    Genetics, one of the most influential fields, underlies all of biology and produces discoveries that are in the news daily. However, many students leave introductory biology and genetics courses lacking a coherent framework of knowledge to use in their daily lives. We identify substantial "missing links" in the teaching of foundational…

  3. Investigation on the improvement of genetic algorithm for PWR loading pattern search and its benchmark verification

    International Nuclear Information System (INIS)

    Li Qianqian; Jiang Xiaofeng; Zhang Shaohong

    2009-01-01

    In this study, the age technique, the concepts of relativeness degree and worth function are exploited to improve the performance of genetic algorithm (GA) for PWR loading pattern search. Among them, the age technique endows the algorithm be capable of learning from previous search 'experience' and guides it to do a better search in the vicinity ora local optimal; the introduction of the relativeness degree checks the relativeness of two loading patterns before performing crossover between them, which can significantly reduce the possibility of prematurity of the algorithm; while the application of the worth function makes the algorithm be capable of generating new loading patterns based on the statistics of common features of evaluated good loading patterns. Numerical verification against a loading pattern search benchmark problem ora two-loop reactor demonstrates that the adoption of these techniques is able to significantly enhance the efficiency of the genetic algorithm while improves the quality of the final solution as well. (authors)

  4. Genetics Home Reference: X-linked lymphoproliferative disease

    Science.gov (United States)

    ... my area? Other Names for This Condition Duncan disease Epstein-Barr virus-induced lymphoproliferative disease in males familial fatal ... the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. ...

  5. Genetic risk load according to the site of intracranial aneurysms

    NARCIS (Netherlands)

    van 't Hof, Femke N. G.; Kurki, Mitja I.; Kleinloog, Rachel; de Bakker, Paul I. W.; von Und Zu Fraunberg, Mikael; Jääskeläinen, Juha E.; Gaál, Emília I.; Lehto, Hanna; Kivisaari, Riku; Laakso, Aki; Niemelä, Mika; Hernesniemi, Juha; Brouwer, Matthijs C.; van de Beek, Diederik; Rinkel, Gabriël J. E.; Ruigrok, Ynte M.

    2014-01-01

    We investigated whether risk alleles of single nucleotide polymorphisms associated with intracranial aneurysm (IA) are enriched in patients with familial IA, IA located at the middle cerebral artery (MCA), or IA rupture at a younger age. In this case-only study, we calculated genetic risk scores

  6. Developmental imaging genetics: linking dopamine function to adolescent behavior.

    Science.gov (United States)

    Padmanabhan, Aarthi; Luna, Beatriz

    2014-08-01

    Adolescence is a period of development characterized by numerous neurobiological changes that significantly influence behavior and brain function. Adolescence is of particular interest due to the alarming statistics indicating that mortality rates increase two to three-fold during this time compared to childhood, due largely to a peak in risk-taking behaviors resulting from increased impulsivity and sensation seeking. Furthermore, there exists large unexplained variability in these behaviors that are in part mediated by biological factors. Recent advances in molecular genetics and functional neuroimaging have provided a unique and exciting opportunity to non-invasively study the influence of genetic factors on brain function in humans. While genes do not code for specific behaviors, they do determine the structure and function of proteins that are essential to the neuronal processes that underlie behavior. Therefore, studying the interaction of genotype with measures of brain function over development could shed light on critical time points when biologically mediated individual differences in complex behaviors emerge. Here we review animal and human literature examining the neurobiological basis of adolescent development related to dopamine neurotransmission. Dopamine is of critical importance because of (1) its role in cognitive and affective behaviors, (2) its role in the pathogenesis of major psychopathology, and (3) the protracted development of dopamine signaling pathways over adolescence. We will then focus on current research examining the role of dopamine-related genes on brain function. We propose the use of imaging genetics to examine the influence of genetically mediated dopamine variability on brain function during adolescence, keeping in mind the limitations of this approach. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

    Science.gov (United States)

    Fullwood, P; Jones, J; Bundey, S; Dudgeon, J; Fielder, A R; Kilpatrick, M W

    1993-03-01

    A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

  8. A multi-objective genetic approach to domestic load scheduling in an energy management system

    International Nuclear Information System (INIS)

    Soares, Ana; Antunes, Carlos Henggeler; Oliveira, Carlos; Gomes, Álvaro

    2014-01-01

    In this paper a multi-objective genetic algorithm is used to solve a multi-objective model to optimize the time allocation of domestic loads within a planning period of 36 h, in a smart grid context. The management of controllable domestic loads is aimed at minimizing the electricity bill and the end-user’s dissatisfaction concerning two different aspects: the preferred time slots for load operation and the risk of interruption of the energy supply. The genetic algorithm is similar to the Elitist NSGA-II (Nondominated Sorting Genetic Algorithm II), in which some changes have been introduced to adapt it to the physical characteristics of the load scheduling problem and improve usability of results. The mathematical model explicitly considers economical, technical, quality of service and comfort aspects. Illustrative results are presented and the characteristics of different solutions are analyzed. - Highlights: • A genetic algorithm similar to the NSGA-II is used to solve a multi-objective model. • The optimized time allocation of domestic loads in a smart grid context is achieved. • A variable preference profile for the operation of the managed loads is included. • A safety margin is used to account for the quality of the energy services provided. • A non-dominated front with the solutions in the two-objective space is obtained

  9. Discrimination and anger control as pathways linking socioeconomic disadvantage to allostatic load in midlife.

    Science.gov (United States)

    Zilioli, Samuele; Imami, Ledina; Ong, Anthony D; Lumley, Mark A; Gruenewald, Tara

    2017-12-01

    Recent evidence suggests that experiences of discrimination contribute to socioeconomic status health disparities. The current study examined if the experience and regulation of anger-an expected emotional response to discrimination-serves as an explanatory factor for the previously documented links between socioeconomic disadvantage (SED), discrimination, and allostatic load. Data were drawn from the second wave of the Midlife in the United States (MIDUS) study and included 909 adults who participated in the biomarkers subproject. Results revealed that perceived discrimination was associated with higher levels of allostatic load. Furthermore, we found evidence that perceived discrimination and anger control sequentially explained the relationship between SED and allostatic load, such that greater discrimination was associated with lower levels of anger control, which, in turn accounted for the effects of discrimination on allostatic load. These results remained significant after controlling for negative affect, positive affect, other forms of anger expression, as well as demographic covariates. Our findings suggest that low anger control may be an important psychological pathway through which experiences of discrimination influence health. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Linking CDOM spectral absorption to dissolved organic carbon concentrations and loadings in boreal estuaries

    DEFF Research Database (Denmark)

    Asmala, Eero; Stedmon, Colin A.; Thomas, David N.

    2012-01-01

    concentrations across the salinity gradient and ranged from 1.67 to 33.4 m−1. The link between DOC and CDOM was studied using a range of wavelengths and algorithms. Wavelengths between 250 and 270 nm gave the best predictions with single linear regression. Total dissolved iron was found to influence......The quantity of chromophoric dissolved organic matter (CDOM) and dissolved organic carbon (DOC) in three Finnish estuaries (Karjaanjoki, Kyrönjoki and Kiiminkijoki) was investigated, with respect to predicting DOC concentrations and loadings from spectral CDOM absorption measurements. Altogether 87...... the prediction in wavelengths above 520nm. Despite significant seasonal and spatial differences in DOC–CDOM models, a universal relationship was tested with an independent data set and found to be robust. DOC and CDOM yields (loading/catchment area) from the catchments ranged from 1.98 to 5.44gCm−2yr−1, and 1...

  11. Towards a systemic paradigm in carcinogenesis: linking epigenetics and genetics.

    Science.gov (United States)

    Burgio, Ernesto; Migliore, Lucia

    2015-04-01

    For at least 30 years cancer has been defined as a genetic disease and explained by the so-called somatic mutation theory (SMT), which has dominated the carcinogenesis field. Criticism of the SMT has recently greatly increased, although still not enough to force all SMT supporters to recognize its limits. Various researchers point out that cancer appears to be a complex process concerning a whole tissue; and that genomic mutations, although variably deleterious and unpredictably important in determining the establishment of the neoplastic phenotype, are not the primary origin for a malignant neoplasia. We attempt to describe the inadequacies of the SMT and demonstrate that epigenetics is a more logical cause of carcinogenesis. Many previous models of carcinogenesis fall into two classes: (i) in which some biological changes inside cells alone lead to malignancy; and (ii) requiring changes in stroma/extracellular matrix. We try to make clear that in the (ii) model genomic instability is induced by persistent signals coming from the microenvironment, provoking epigenetic and genetic modifications in tissue stem cells that can lead to cancer. In this perspective, stochastic mutations of DNA are a critical by-product rather then the primary cause of cancer. Indirect support for such model of carcinogenesis comes from the in vitro and vivo experiments showing apparent 'reversion' of cancer phenotypes obtained via physiological factors of cellular differentiation (cytokines and other signaling molecules) or drugs, even if the key mutations are not 'reversed'.

  12. Is there a causal link between knee loading and knee osteoarthritis progression?

    DEFF Research Database (Denmark)

    Henriksen, Marius; Creaby, Mark W; Lund, Hans

    2014-01-01

    OBJECTIVE: We performed a systematic review, meta-analysis and assessed the evidence supporting a causal link between knee joint loading during walking and structural knee osteoarthritis (OA) progression. DESIGN: Systematic review, meta-analysis and application of Bradford Hill's considerations...... was assessed from cohort studies using the Bradford Hill guidelines to derive a 0-4 causation score based on four criteria and examined for confirmation in RCTs. RESULTS: Of the 1078 potentially eligible articles, 5 prospective cohort studies were included. The studies included a total of 452 patients relating...

  13. Dynamic Load Balanced Clustering using Elitism based Random Immigrant Genetic Approach for Wireless Sensor Networks

    Directory of Open Access Journals (Sweden)

    K. Mohaideen Pitchai

    2017-07-01

    Full Text Available Wireless Sensor Network (WSN consists of a large number of small sensors with restricted energy. Prolonged network lifespan, scalability, node mobility and load balancing are important needs for several WSN applications. Clustering the sensor nodes is an efficient technique to reach these goals. WSN have the characteristics of topology dynamics because of factors like energy conservation and node movement that leads to Dynamic Load Balanced Clustering Problem (DLBCP. In this paper, Elitism based Random Immigrant Genetic Approach (ERIGA is proposed to solve DLBCP which adapts to topology dynamics. ERIGA uses the dynamic Genetic Algorithm (GA components for solving the DLBCP. The performance of load balanced clustering process is enhanced with the help of this dynamic GA. As a result, the ERIGA achieves to elect suitable cluster heads which balances the network load and increases the lifespan of the network.

  14. Variability of individual genetic load: consequences for the detection of inbreeding depression.

    Science.gov (United States)

    Restoux, Gwendal; Huot de Longchamp, Priscille; Fady, Bruno; Klein, Etienne K

    2012-03-01

    Inbreeding depression is a key factor affecting the persistence of natural populations, particularly when they are fragmented. In species with mixed mating systems, inbreeding depression can be estimated at the population level by regressing the average progeny fitness by the selfing rate of their mothers. We applied this method using simulated populations to investigate how population genetic parameters can affect the detection power of inbreeding depression. We simulated individual selfing rates and genetic loads from which we computed fitness values. The regression method yielded high statistical power, inbreeding depression being detected as significant (5 % level) in 92 % of the simulations. High individual variation in selfing rate and high mean genetic load led to better detection of inbreeding depression while high among-individual variation in genetic load made it more difficult to detect inbreeding depression. For a constant sampling effort, increasing the number of progenies while decreasing the number of individuals per progeny enhanced the detection power of inbreeding depression. We discuss the implication of among-mother variability of genetic load and selfing rate on inbreeding depression studies.

  15. Multiobjective Economic Load Dispatch in 3-D Space by Genetic Algorithm

    Science.gov (United States)

    Jain, N. K.; Nangia, Uma; Singh, Iqbal

    2017-10-01

    This paper presents the application of genetic algorithm to Multiobjective Economic Load Dispatch (MELD) problem considering fuel cost, transmission losses and environmental pollution as objective functions. The MELD problem has been formulated using constraint method. The non-inferior set for IEEE 5, 14 and 30-bus system has been generated by using genetic algorithm and the target point has been obtained by using maximization of minimum relative attainments.

  16. The genetic links between the big five personality traits and general interest domains.

    Science.gov (United States)

    Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M

    2011-12-01

    This is the first genetically informative study in which multiple informants were used to quantify the genetic and environmental sources of individual differences in general interests as well as the phenotypic and genetic links between general interests and Big Five personality traits. Self-reports and two peer ratings from 844 individuals, including 225 monozygotic and 113 dizygotic complete twin pairs, were collected. Multiple-rater scores (composites) revealed that the averaged levels of genetic and environmental effects on seven broad interest domains were similar to those on personality traits. Multivariate analyses showed that about 35% of the genetic and 9% of the environmental variance in interests were explained by personality domains, in particular by Openness. The findings suggest that interests cannot easily be considered as a byproduct of the interactions between personality genotypes and the environmental influences but rather as an internal regulation of behavior with an own genetic basis.

  17. Genetic association in chronic periodontitis through dermatoglyphics: An unsolved link?

    Directory of Open Access Journals (Sweden)

    Sowmya Astekar

    2017-01-01

    Full Text Available Introduction: Because dermatoglyphic features are strongly affected by genetic and environmental factors, using it as supportive evidence in the diagnosis of hereditary disorders becomes a reality. Offspring of patients suffering from chronic periodontitis have a high prevalence rate of periodontal breakdown, suggesting strong familial influence. Aims: The present study intends to evaluate and compare the dermatoglyphic patterns in controls and periodontally compromised patients. Settings and Design: A hospital based cross-sectional study was conducted, including a total of 60 individuals, divided into study and control groups of 30 each. The study group included clinically diagnosed periodontitis patients.Materials and Methods: The digital prints were collected using biometric scanner and palmer prints using digital flatbed scanner. Care was taken to ensure that full prints of ridges were obtained. The periodontal status of all 60 participants was assessed clinically for attachment level and pocket depth. Later, Russell's periodontal index was also calculated. Statistical Analysis: The data obtained was subjected to statistical analysis using chi square and Student's t-test. Results: Among the finger ridge patterns, whorl pattern was found to be the most common in the study group whereas loop pattern was the most common in the control group. Mean total finger ridge count in the study group (165.69 ± 25.30 was significantly higher (P = 0.001 than the control group (125.4 ± 16.38. Mean dat angle was significantly higher (P = 0.039 in the study group (60.60 ± 2.76 than the control group (59.20 ± 2.62. Conclusion: Dermatoglyphics may serve as an early predictor in identifying high risk group individuals of developing diseases like periodontitis.

  18. Functional modules, mutational load and human genetic disease.

    Science.gov (United States)

    Zaghloul, Norann A; Katsanis, Nicholas

    2010-04-01

    The ability to generate a massive amount of sequencing and genotyping data is transforming the study of human genetic disorders. Driven by such innovation, it is likely that whole exome and whole-genome resequencing will replace regionally focused approaches for gene discovery and clinical testing in the next few years. However, this opportunity brings a significant interpretative challenge to assigning function and phenotypic variance to common and rare alleles. Understanding the effect of individual mutations in the context of the remaining genomic variation represents a major challenge to our interpretation of disease. Here, we discuss the challenges of assigning mutation functionality and, drawing from the examples of ciliopathies as well as cohesinopathies and channelopathies, discuss possibilities for the functional modularization of the human genome. Functional modularization in addition to the development of physiologically relevant assays to test allele functionality will accelerate our understanding of disease architecture and enable the use of genome-wide sequence data for disease diagnosis and phenotypic prediction in individuals. Copyright 2010 Elsevier Ltd. All rights reserved.

  19. A Web-Based Tool to Interpolate Nitrogen Loading Using a Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Youn Shik Park

    2014-09-01

    Full Text Available Water quality data may not be collected at a high frequency, nor over the range of streamflow data. For instance, water quality data are often collected monthly, biweekly, or weekly, since collecting and analyzing water quality samples are costly compared to streamflow data. Regression models are often used to interpolate pollutant loads from measurements made intermittently. Web-based Load Interpolation Tool (LOADIN was developed to provide user-friendly interfaces and to allow use of streamflow and water quality data from U.S. Geological Survey (USGS via web access. LOADIN has a regression model assuming that instantaneous load is comprised of the pollutant load based on streamflow and the pollutant load variation within the period. The regression model has eight coefficients determined by a genetic algorithm with measured water quality data. LOADIN was applied to eleven water quality datasets from USGS gage stations located in Illinois, Indiana, Michigan, Minnesota, and Wisconsin states with drainage areas from 44 km2 to 1,847,170 km2. Measured loads were calculated by multiplying nitrogen data by streamflow data associated with measured nitrogen data. The estimated nitrogen loads and measured loads were evaluated using Nash-Sutcliffe Efficiency (NSE and coefficient of determination (R2. NSE ranged from 0.45 to 0.91, and R2 ranged from 0.51 to 0.91 for nitrogen load estimation.

  20. Neurocognitive functioning in parents of schizophrenia patients: Attentional and executive performance vary with genetic loading.

    Science.gov (United States)

    Schulze-Rauschenbach, Svenja; Lennertz, Leonhard; Ruhrmann, Stephan; Petrovsky, Nadine; Ettinger, Ulrich; Pukrop, Ralf; Dreher, Jan; Klosterkötter, Joachim; Maier, Wolfgang; Wagner, Michael

    2015-12-30

    Neuropsychological deficits are candidate endophenotypes of schizophrenia which can assist to explain the neurocognitive impact of genetic risk variants. The identification of endophenotypes is often based on the familiality of these phenotypes. Several studies demonstrate neuropsychological deficits in unaffected biological relatives of schizophrenia patients without differentiating between genetic and non-genetic factors underlying these deficits. We assessed N=129 unaffected biological parents of schizophrenia patients, N=28 schizophrenia patients (paranoid subtype), and N=143 controls without a family history of schizophrenia with an extensive neuropsychological test battery. Direct comparison of N=22 parents with an ancestral history of schizophrenia (more likely carriers, MLC) and N=17 of their spouses without such a history (less likely carriers, LLC) allowed the separation of genetic and non-genetic aspects in cognition. Overall, parents showed significant deficits in neuropsychological tasks from all cognitive domains with medium effect sizes. Direct comparisons of MLC- and LLC-parents showed that attentional and executive tasks were most strongly affected by genetic loading. To conclude, unaffected parents of schizophrenia patients showed modest yet significant impairments in attention, memory, and executive functioning. In particular, attentional and executive impairments varied most strongly with genetic loading for schizophrenia, prioritising these dysfunctions for genotype-endophenotype analyses. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  1. Development of a BWR loading pattern design system based on modified genetic algorithms and knowledge

    International Nuclear Information System (INIS)

    Martin-del-Campo, Cecilia; Francois, Juan Luis; Avendano, Linda; Gonzalez, Mario

    2004-01-01

    An optimization system based on Genetic Algorithms (GAs), in combination with expert knowledge coded in heuristics rules, was developed for the design of optimized boiling water reactor (BWR) fuel loading patterns. The system was coded in a computer program named Loading Pattern Optimization System based on Genetic Algorithms, in which the optimization code uses GAs to select candidate solutions, and the core simulator code CM-PRESTO to evaluate them. A multi-objective function was built to maximize the cycle energy length while satisfying power and reactivity constraints used as BWR design parameters. Heuristic rules were applied to satisfy standard fuel management recommendations as the Control Cell Core and Low Leakage loading strategies, and octant symmetry. To test the system performance, an optimized cycle was designed and compared against an actual operating cycle of Laguna Verde Nuclear Power Plant, Unit I

  2. Performance evaluation of Genetic Algorithms on loading pattern optimization of PWRs

    International Nuclear Information System (INIS)

    Tombakoglu, M.; Bekar, K.B.; Erdemli, A.O.

    2001-01-01

    Genetic Algorithm (GA) based systems are used for search and optimization problems. There are several applications of GAs in literature successfully applied for loading pattern optimization problems. In this study, we have selected loading pattern optimization problem of Pressurised Water Reactor (PWR). The main objective of this work is to evaluate the performance of Genetic Algorithm operators such as regional crossover, crossover and mutation, and selection and construction of initial population and its size for PWR loading pattern optimization problems. The performance of GA with antithetic variates is compared to traditional GA. Antithetic variates are used to generate the initial population and its use with GA operators are also discussed. Finally, the results of multi-cycle optimization problems are discussed for objective function taking into account cycle burn-up and discharge burn-up.(author)

  3. New genetic loci link adipose and insulin biology to body fat distribution

    NARCIS (Netherlands)

    D. Shungin (Dmitry); T.W. Winkler (Thomas W.); D.C. Croteau-Chonka (Damien); T. Ferreira (Teresa); A. Locke (Adam); R. Mägi (Reedik); R.J. Strawbridge (Rona); T.H. Pers (Tune); K. Fischer (Krista); A.E. Justice (Anne); T. Workalemahu (Tsegaselassie); J.M.W. Wu (Joseph M. W.); M.L. Buchkovich (Martin); N.L. Heard-Costa (Nancy); T.S. Roman (Tamara S.); A. Drong (Alexander); C. Song (Ci); S. Gustafsson (Stefan); F.R. Day (Felix); T. Esko (Tõnu); M. Fall (Magnus); Z. Kutalik (Zolta'n); J. Luan; J.C. Randall (Joshua); A. Scherag (Andre); S. Vedantam (Sailaja); A.R. Wood (Andrew); J. Chen (Jin); R.S.N. Fehrmann (Rudolf); J. Karjalainen (Juha); B. Kahali (Bratati); C.-T. Liu (Ching-Ti); E.M. Schmidt (Ellen); D. Absher (Devin); N. Amin (Najaf); M. Beekman (Marian); J.L. Bragg-Gresham (Jennifer L.); S. Buyske (Steven); A. Demirkan (Ayşe); G.B. Ehret (Georg); M.F. Feitosa (Mary Furlan); A. Goel (Anuj); A.U. Jackson (Anne); T. Johnson (Toby); M.E. Kleber (Marcus); K. Kristiansson (Kati); M. Mangino (Massimo); I.M. Leach (Irene Mateo); M.C. Medina-Gomez (Carolina); C. Palmer (Cameron); D. Pasko (Dorota); S. Pechlivanis (Sonali); M.J. Peters (Marjolein); I. Prokopenko (Inga); A. Stanca'kova' (Alena); Y.J. Sung (Yun Ju); T. Tanaka (Toshiko); A. Teumer (Alexander); J.V. van Vliet-Ostaptchouk (Jana); L. Yengo (Loic); W. Zhang (Weihua); E. Albrecht (Eva); J. Ärnlöv (Johan); G.M. Arscott (Gillian M.); S. Bandinelli (Stefania); A. Barrett (Angela); C. Bellis (Claire); A.J. Bennett (Amanda); C. Berne (Christian); M. Blüher (Matthias); S. Böhringer (Stefan); F. Bonnet (Fabrice); Y. Böttcher (Yvonne); M. Bruinenberg (M.); D.B. Carba (Delia B.); I.H. Caspersen (Ida H.); R. Clarke (Robert); E.W. Daw (E. Warwick); J. Deelen (Joris); E. Deelman (Ewa); G. Delgado; A.S.F. Doney (Alex); N. Eklund (Niina); M.R. Erdos (Michael); K. Estrada Gil (Karol); E. Eury (Elodie); N. Friedrich (Nele); M. Garcia (Melissa); V. Giedraitis (Vilmantas); B. Gigante (Bruna); A. Go (Attie); A. Golay (Alain); H. Grallert (Harald); T.B. Grammer (Tanja); J. Gräsler (Jürgen); J. Grewal (Jagvir); C.J. Groves (Christopher); T. Haller (Toomas); G. Hallmans (Göran); C.A. Hartman (Catharina); M. Hassinen (Maija); C. Hayward (Caroline); K. Heikkilä (Kauko); K.H. Herzig; Q. Helmer (Quinta); H.L. Hillege (Hans); O.L. Holmen (Oddgeir); S.C. Hunt (Steven); A. Isaacs (Aaron); T. Ittermann (Till); A.L. James (Alan); I. Johansson (Inger); T. Juliusdottir (Thorhildur); I.-P. Kalafati (Ioanna-Panagiota); L. Kinnunen (Leena); W. Koenig (Wolfgang); I.K. Kooner (Ishminder K.); W. Kratzer (Wolfgang); C. Lamina (Claudia); K. Leander (Karin); N.R. Lee (Nanette R.); P. Lichtner (Peter); L. Lind (Lars); J. Lindström (Jaana); S. Lobbens (Stéphane); M. Lorentzon (Mattias); F. MacH (François); P.K. Magnusson (Patrik); A. Mahajan (Anubha); W.L. McArdle (Wendy); C. Menni (Cristina); S. Merger (Sigrun); E. Mihailov (Evelin); L. Milani (Lili); R. Mills (Rebecca); A. Moayyeri (Alireza); K.L. Monda (Keri); S.P. Mooijaart (Simon); T.W. Mühleisen (Thomas); A. Mulas (Antonella); G. Müller (Gabriele); M. Müller-Nurasyid (Martina); R. Nagaraja (Ramaiah); M.A. Nalls (Michael); N. Narisu (Narisu); N. Glorioso (Nicola); I.M. Nolte (Ilja M.); M. Olden (Matthias); N.W. Rayner (Nigel William); F. Renström (Frida); J.S. Ried (Janina); N.R. Robertson (Neil R.); L.M. Rose (Lynda); S. Sanna (Serena); H. Scharnagl (Hubert); S. Scholtens (Salome); B. Sennblad (Bengt); T. Seufferlein (Thomas); C.M. Sitlani (Colleen); G.D. Smith; K. Stirrups (Kathy); H.M. Stringham (Heather); J. Sundstrom (Johan); M. Swertz (Morris); A.J. Swift (Amy); A.C. Syvanen; B. Tayo (Bamidele); B. Thorand (Barbara); G. Thorleifsson (Gudmar); A. Tomaschitz (Andreas); C. Troffa (Chiara); F.V.A. van Oort (Floor); N. Verweij (Niek); J.M. Vonk (Judith); L. Waite (Lindsay); R. Wennauer (Roman); T. Wilsgaard (Tom); M.K. Wojczynski (Mary ); A. Wong (Andrew); Q. Zhang (Qunyuan); J.H. Zhao (Jing Hua); E.P. Brennan (Eoin P.); M. Choi (Murim); P. Eriksson (Per); L. Folkersen (Lasse); A. Franco-Cereceda (Anders); A.G. Gharavi (Ali G.); A.K. Hedman (Asa); M.-F. Hivert (Marie-France); J. Huang (Jinyan); S. Kanoni (Stavroula); F. Karpe (Fredrik); S. Keildson (Sarah); K. Kiryluk (Krzysztof); L. Liang (Liming); R.P. Lifton (Richard); B. Ma (Baoshan); A.J. McKnight (Amy J.); R. McPherson (Ruth); A. Metspalu (Andres); J.L. Min (Josine L.); M.F. Moffatt (Miriam); G.W. Montgomery (Grant); J. Murabito (Joanne); G. Nicholson (Ggeorge); A.S. Dimas (Antigone); C. Olsson (Christian); J.R.B. Perry (John); E. Reinmaa (Eva); R.M. Salem (Rany); N. Sandholm (Niina); E.E. Schadt (Eric); R.A. Scott (Robert); L. Stolk (Lisette); E.E. Vallejo (Edgar E.); H.J. Westra (Harm-Jan); K.T. Zondervan (Krina); P. Amouyel (Philippe); D. Arveiler (Dominique); S.J.L. Bakker (Stephan); J.P. Beilby (John); R.N. Bergman (Richard); J. Blangero (John); M.J. Brown (Morris); M. Burnier (Michel); H. Campbell (Harry); A. Chakravarti (Aravinda); P.S. Chines (Peter); S. Claudi-Boehm (Simone); F.S. Collins (Francis); D.C. Crawford (Dana); J. Danesh (John); U. de Faire (Ulf); E.J.C. de Geus (Eco); M. Dörr (Marcus); R. Erbel (Raimund); K. Hagen (Knut); M. Farrall (Martin); E. Ferrannini (Ele); J. Ferrieres (Jean); N.G. Forouhi (Nita); T. Forrester (Terrence); O.H. Franco (Oscar); R.T. Gansevoort (Ron); C. Gieger (Christian); V. Gudnason (Vilmundur); C.A. Haiman (Christopher); T.B. Harris (Tamara); A.T. Hattersley (Andrew); M. Heliovaara (Markku); A.A. Hicks (Andrew); A. Hingorani (Aroon); W. Hoffmann (Wolfgang); A. Hofman (Albert); G. Homuth (Georg); S.E. Humphries (Steve); E. Hypponen (Elina); T. Illig (Thomas); M.-R. Jarvelin (Marjo-Riitta); B. Johansen (Berit); P. Jousilahti (Pekka); A. Jula (Antti); J. Kaprio (Jaakko); F. Kee (F.); S. Keinanen-Kiukaanniemi (Sirkka); J.S. Kooner (Jaspal S.); C. Kooperberg (Charles); P. Kovacs (Peter); A. Kraja (Aldi); M. Kumari (Meena); K. Kuulasmaa (Kari); J. Kuusisto (Johanna); T.A. Lakka (Timo); C. Langenberg (Claudia); L. Le Marchand (Loic); T. Lehtimäki (Terho); V. Lyssenko (Valeriya); S. Männistö (Satu); A. Marette (Andre'); T.C. Matise (Tara C.); C.A. McKenzie (Colin A.); B. McKnight (Barbara); A.W. Musk (Arthur); S. Möhlenkamp (Stefan); A.D. Morris (Andrew); M. Nelis (Mari); C. Ohlsson (Claes); A.J. Oldehinkel (Albertine); K.K. Ong (Ken K.); C. Palmer (Cameron); B.W.J.H. Penninx (Brenda); A. Peters (Annette); P.P. Pramstaller (Peter Paul); O. Raitakari (Olli); T. Rankinen (Tuomo); D.C. Rao (Dabeeru C.); T.K. Rice (Treva K.); P.M. Ridker (Paul); M.D. Ritchie (Marylyn D.); I. Rudan (Igor); V. Salomaa (Veikko); N.J. Samani (Nilesh); J. Saramies (Jouko); M.A. Sarzynski (Mark A.); P.E.H. Schwarz (Peter E. H.); A.R. Shuldiner (Alan); J.A. Staessen (Jan); V. Steinthorsdottir (Valgerdur); R.P. Stolk (Ronald); K. Strauch (Konstantin); A. Tönjes (Anke); A. Tremblay (Angelo); E. Tremoli (Elena); M.-C. Vohl (Marie-Claude); U. Völker (Uwe); P. Vollenweider (Peter); J.F. Wilson (James F); J.C.M. Witteman (Jacqueline); L.S. Adair (Linda); M. Bochud (Murielle); B.O. Boehm (Bernhard); S.R. Bornstein (Stefan R.); C. Bouchard (Claude); S. Cauchi (Ste'phane); M. Caulfield (Mark); J.C. Chambers (John C.); D.I. Chasman (Daniel); R.S. Cooper (Richard S.); G.V. Dedoussis (George); L. Ferrucci (Luigi); P. Froguel (Philippe); H.J. Grabe (Hans Jörgen); A. Hamsten (Anders); J. Hui (Jennie); K. Hveem (Kristian); K.-H. Jöckel (Karl-Heinz); M. Kivimaki (Mika); D. Kuh (Diana); M. Laakso (Markku); Y. Liu (YongMei); W. März (Winfried); P. Munroe (Patricia); I. Njølstad (Inger); B.A. Oostra (Ben); C.N.A. Palmer (Colin); N.L. Pedersen (Nancy L.); M. Perola (Markus); L. Perusse (Louis); U. Peters (Ulrike); C. Power (Christopher); T. Quertermous (Thomas); R. Rauramaa (Rainer); F. Rivadeneira Ramirez (Fernando); T. Saaristo (Timo); D. Saleheen; J. Sinisalo (Juha); P.E. Slagboom (Eline); H. Snieder (Harold); T.D. Spector (Timothy); U. Thorsteinsdottir (Unnur); M. Stumvoll (Michael); J. Tuomilehto (Jaakko); A.G. Uitterlinden (André); M. Uusitupa (Matti); P. van der Harst (Pim); G. Veronesi (Giovanni); M. Walker (Mark); N.J. Wareham (Nick); H. Watkins (Hugh); H.E. Wichmann (Heinz Erich); G.R. Abecasis (Gonçalo); T.L. Assimes (Themistocles); S.I. Berndt (Sonja); M. Boehnke (Michael); I.B. Borecki (Ingrid); P. Deloukas (Panagiotis); L. Franke (Lude); T.M. Frayling (Timothy); L. Groop (Leif); D. Hunter (David); R.C. Kaplan (Robert); J.R. O´Connell; L. Qi (Lu); D. Schlessinger (David); D.P. Strachan (David); J-A. Zwart (John-Anker); C.M. van Duijn (Cornelia); C.J. Willer (Cristen); P.M. Visscher (Peter); J. Yang (Joanna); J.N. Hirschhorn (Joel N.); M.C. Zillikens (Carola); M.I. McCarthy (Mark); E.K. Speliotes (Elizabeth); K.E. North (Kari); C.S. Fox (Caroline S.); I.E. Barroso (Inês); P.W. Franks (Paul); D. Anderson (Denise); E. Ingelsson (Erik); I.M. Heid (Iris); R.J.F. Loos (Ruth); L.A. Cupples (Adrienne); A.P. Morris (Andrew); C.M. Lindgren (Cecilia); K.L. Mohlke (Karen)

    2015-01-01

    textabstractBody fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct

  4. New genetic loci link adipose and insulin biology to body fat distribution

    NARCIS (Netherlands)

    Shungin, Dmitry; Winkler, Thomas W.; Croteau-Chonka, Damien C.; Ferreira, Teresa; Locke, Adam E.; Mägi, Reedik; Strawbridge, Rona J.; Pers, Tune H.; Fischer, Krista; Justice, Anne E.; Workalemahu, Tsegaselassie; Wu, Joseph M. W.; Buchkovich, Martin L.; Heard-Costa, Nancy L.; Roman, Tamara S.; Drong, Alexander W.; Song, Ci; Gustafsson, Stefan; Day, Felix R.; Esko, Tonu; Fall, Tove; Kutalik, Zoltán; Luan, Jian'an; Randall, Joshua C.; Scherag, André; Vedantam, Sailaja; Wood, Andrew R.; Chen, Jin; Fehrmann, Rudolf; Karjalainen, Juha; Kahali, Bratati; Liu, Ching-Ti; Schmidt, Ellen M.; Absher, Devin; Amin, Najaf; Anderson, Denise; Beekman, Marian; Bragg-Gresham, Jennifer L.; Buyske, Steven; Demirkan, Ayse; Ehret, Georg B.; Feitosa, Mary F.; Goel, Anuj; Jackson, Anne U.; Johnson, Toby; Kleber, Marcus E.; Kristiansson, Kati; Mangino, Massimo; Mateo Leach, Irene; Medina-Gomez, Carolina; Palmer, Cameron D.; Pasko, Dorota; Pechlivanis, Sonali; Peters, Marjolein J.; Prokopenko, Inga; Stančáková, Alena; Ju Sung, Yun; Tanaka, Toshiko; Teumer, Alexander; van Vliet-Ostaptchouk, Jana V.; Yengo, Loïc; Zhang, Weihua; Albrecht, Eva; Ärnlöv, Johan; Arscott, Gillian M.; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J.; Berne, Christian; Blüher, Matthias; Böhringer, Stefan; Bonnet, Fabrice; Böttcher, Yvonne; Bruinenberg, Marcel; Carba, Delia B.; Caspersen, Ida H.; Clarke, Robert; Daw, E. Warwick; Deelen, Joris; Deelman, Ewa; Delgado, Graciela; Doney, Alex S. F.; Eklund, Niina; Erdos, Michael R.; Estrada, Karol; Eury, Elodie; Friedrich, Nele; Garcia, Melissa E.; Giedraitis, Vilmantas; Gigante, Bruna; Go, Alan S.; Golay, Alain; Grallert, Harald; Grammer, Tanja B.; Gräßler, Jürgen; Grewal, Jagvir; Groves, Christopher J.; Haller, Toomas; Hallmans, Goran; Hartman, Catharina A.; Hassinen, Maija; Hayward, Caroline; Heikkilä, Kauko; Herzig, Karl-Heinz; Helmer, Quinta; Hillege, Hans L.; Holmen, Oddgeir; Hunt, Steven C.; Isaacs, Aaron; Ittermann, Till; James, Alan L.; Johansson, Ingegerd; Juliusdottir, Thorhildur; Kalafati, Ioanna-Panagiota; Kinnunen, Leena; Koenig, Wolfgang; Kooner, Ishminder K.; Kratzer, Wolfgang; Lamina, Claudia; Leander, Karin; Lee, Nanette R.; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Mach, François; Magnusson, Patrik K. E.; Mahajan, Anubha; McArdle, Wendy L.; Menni, Cristina; Merger, Sigrun; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Moayyeri, Alireza; Monda, Keri L.; Mooijaart, Simon P.; Mühleisen, Thomas W.; Mulas, Antonella; Müller, Gabriele; Müller-Nurasyid, Martina; Nagaraja, Ramaiah; Nalls, Michael A.; Narisu, Narisu; Glorioso, Nicola; Nolte, Ilja M.; Olden, Matthias; Rayner, Nigel W.; Renstrom, Frida; Ried, Janina S.; Robertson, Neil R.; Rose, Lynda M.; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Sennblad, Bengt; Seufferlein, Thomas; Sitlani, Colleen M.; Vernon Smith, Albert; Stirrups, Kathleen; Stringham, Heather M.; Sundström, Johan; Swertz, Morris A.; Swift, Amy J.; Syvänen, Ann-Christine; Tayo, Bamidele O.; Thorand, Barbara; Thorleifsson, Gudmar; Tomaschitz, Andreas; Troffa, Chiara; van Oort, Floor V. A.; Verweij, Niek; Vonk, Judith M.; Waite, Lindsay L.; Wennauer, Roman; Wilsgaard, Tom; Wojczynski, Mary K.; Wong, Andrew; Zhang, Qunyuan; Hua Zhao, Jing; Brennan, Eoin P.; Choi, Murim; Eriksson, Per; Folkersen, Lasse; Franco-Cereceda, Anders; Gharavi, Ali G.; Hedman, Åsa K.; Hivert, Marie-France; Huang, Jinyan; Kanoni, Stavroula; Karpe, Fredrik; Keildson, Sarah; Kiryluk, Krzysztof; Liang, Liming; Lifton, Richard P.; Ma, Baoshan; McKnight, Amy J.; McPherson, Ruth; Metspalu, Andres; Min, Josine L.; Moffatt, Miriam F.; Montgomery, Grant W.; Murabito, Joanne M.; Nicholson, George; Nyholt, Dale R.; Olsson, Christian; Perry, John R. B.; Reinmaa, Eva; Salem, Rany M.; Sandholm, Niina; Schadt, Eric E.; Scott, Robert A.; Stolk, Lisette; Vallejo, Edgar E.; Westra, Harm-Jan; Zondervan, Krina T.; Amouyel, Philippe; Arveiler, Dominique; Bakker, Stephan J. L.; Beilby, John; Bergman, Richard N.; Blangero, John; Brown, Morris J.; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chines, Peter S.; Claudi-Boehm, Simone; Collins, Francis S.; Crawford, Dana C.; Danesh, John; de Faire, Ulf; de Geus, Eco J. C.; Dörr, Marcus; Erbel, Raimund; Eriksson, Johan G.; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Forouhi, Nita G.; Forrester, Terrence; Franco, Oscar H.; Gansevoort, Ron T.; Gieger, Christian; Gudnason, Vilmundur; Haiman, Christopher A.; Harris, Tamara B.; Hattersley, Andrew T.; Heliövaara, Markku; Hicks, Andrew A.; Hingorani, Aroon D.; Hoffmann, Wolfgang; Hofman, Albert; Homuth, Georg; Humphries, Steve E.; Hyppönen, Elina; Illig, Thomas; Jarvelin, Marjo-Riitta; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M.; Kaprio, Jaakko; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M.; Kooner, Jaspal S.; Kooperberg, Charles; Kovacs, Peter; Kraja, Aldi T.; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Lakka, Timo A.; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C.; McKenzie, Colin A.; McKnight, Barbara; Musk, Arthur W.; Möhlenkamp, Stefan; Morris, Andrew D.; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J.; Ong, Ken K.; Palmer, Lyle J.; Penninx, Brenda W.; Peters, Annette; Pramstaller, Peter P.; Raitakari, Olli T.; Rankinen, Tuomo; Rao, D. C.; Rice, Treva K.; Ridker, Paul M.; Ritchie, Marylyn D.; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J.; Saramies, Jouko; Sarzynski, Mark A.; Schwarz, Peter E. H.; Shuldiner, Alan R.; Staessen, Jan A.; Steinthorsdottir, Valgerdur; Stolk, Ronald P.; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Vohl, Marie-Claude; Völker, Uwe; Vollenweider, Peter; Wilson, James F.; Witteman, Jacqueline C.; Adair, Linda S.; Bochud, Murielle; Boehm, Bernhard O.; Bornstein, Stefan R.; Bouchard, Claude; Cauchi, Stéphane; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Cooper, Richard S.; Dedoussis, George; Ferrucci, Luigi; Froguel, Philippe; Grabe, Hans-Jörgen; Hamsten, Anders; Hui, Jennie; Hveem, Kristian; Jöckel, Karl-Heinz; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; März, Winfried; Munroe, Patricia B.; Njølstad, Inger; Oostra, Ben A.; Palmer, Colin N. A.; Pedersen, Nancy L.; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Rivadeneira, Fernando; Saaristo, Timo E.; Saleheen, Danish; Sinisalo, Juha; Slagboom, P. Eline; Snieder, Harold; Spector, Tim D.; Thorsteinsdottir, Unnur; Stumvoll, Michael; Tuomilehto, Jaakko; Uitterlinden, André G.; Uusitupa, Matti; van der Harst, Pim; Veronesi, Giovanni; Walker, Mark; Wareham, Nicholas J.; Watkins, Hugh; Wichmann, H.-Erich; Abecasis, Goncalo R.; Assimes, Themistocles L.; Berndt, Sonja I.; Boehnke, Michael; Borecki, Ingrid B.; Deloukas, Panos; Franke, Lude; Frayling, Timothy M.; Groop, Leif C.; Hunter, David J.; Kaplan, Robert C.; O'Connell, Jeffrey R.; Qi, Lu; Schlessinger, David; Strachan, David P.; Stefansson, Kari; van Duijn, Cornelia M.; Willer, Cristen J.; Visscher, Peter M.; Yang, Jian; Hirschhorn, Joel N.; Zillikens, M. Carola; McCarthy, Mark I.; Speliotes, Elizabeth K.; North, Kari E.; Fox, Caroline S.; Barroso, Inês; Franks, Paul W.; Ingelsson, Erik; Heid, Iris M.; Loos, Ruth J. F.; Cupples, L. Adrienne; Morris, Andrew P.; Lindgren, Cecilia M.; Mohlke, Karen L.; Dastani, Zari; Timpson, Nicholas; Yuan, Xin; Henneman, Peter; Kizer, Jorge R.; Lyytikainen, Leo-Pekka; Fuchsberger, Christian; Small, Kerrin; Coassin, Stefan; Lohman, Kurt; Pankow, James S.; Uh, Hae-Won; Wu, Ying; Bidulescu, Aurelian; Rasmussen-Torvik, Laura J.; Greenwood, Celia M. T.; Ladouceur, Martin; Grimsby, Jonna; Manning, Alisa K.; Kooner, Jaspal; Mooser, Vincent E.; Kapur, Karen A.; Chambers, John; Frants, Rune; Willemsvan-vanDijk, Ko; Willems, Sara M.; Winkler, Thomas; Psaty, Bruce M.; Tracy, Russell P.; Brody, Jennifer; Chen, Ida; Viikari, Jorma; Kähönen, Mika; Evans, David M.; St Pourcain, Beate; Sattar, Naveed; Wood, Andy; Carlson, Olga D.; Egan, Josephine M.; van Heemst, Diana; Kedenko, Lyudmyla; Nuotio, Marja-Liisa; Loo, Britt-Marie; Harris, Tamara; Garcia, Melissa; Kanaya, Alka; Haun, Margot; Klopp, Norman; Wichmann, H. Erich; Katsareli, Efi; Couper, David J.; Duncan, Bruce B.; Kloppenburg, Margreet; Borja, Judith B.; Wilson, James G.; Musani, Solomon; Guo, Xiuqing; Semple, Robert; Teslovich, Tanya M.; Allison, Matthew A.; Redline, Susan; Buxbaum, Sarah G.; Meulenbelt, Ingrid; Ballantyne, Christie M.; Dedoussis, George V.; Hu, Frank B.; Paulweber, Bernhard; Spector, Timothy D.; Jula, Antti; Raitakari, Olli; Florez, Jose C.; Smith, George Davey; Siscovick, David S.; Kronenberg, Florian; van Duijn, Cornelia; Waterworth, Dawn M.; Meigs, James B.; Dupuis, Josee; Richards, John Brent; Willenborg, Christina; Thompson, John R.; Erdmann, Jeanette; Goldstein, Benjamin A.; König, Inke R.; Cazier, Jean-Baptiste; Johansson, Åsa; Hall, Alistair S.; Lee, Jong-Young; Esko, Tõnu; Grundberg, Elin; Havulinna, Aki S.; Ho, Weang K.; Hopewell, Jemma C.; Eriksson, Niclas; Lundmark, Per; Lyytikäinen, Leo-Pekka; Rafelt, Suzanne; Tikkanen, Emmi; van Zuydam, Natalie; Voight, Benjamin F.; Ziegler, Andreas; Altshuler, David; Balmforth, Anthony J.; Braund, Peter S.; Burgdorf, Christof; Cox, David; Dimitriou, Maria; Do, Ron; El Mokhtari, NourEddine; Fontanillas, Pierre; Groop, Leif; Hager, Jörg; Hallmans, Göran; Han, Bok-Ghee; Hunt, Sarah E.; Kang, Hyun M.; Kessler, Thorsten; Knowles, Joshua W.; Kolovou, Genovefa; Langford, Cordelia; Lokki, Marja-Liisa; Lundmark, Anders; Meisinger, Christa; Melander, Olle; Maouche, Seraya; Nikus, Kjell; Peden, John F.; Rayner, N. William; Rasheed, Asif; Rosinger, Silke; Rubin, Diana; Rumpf, Moritz P.; Schäfer, Arne; Sivananthan, Mohan; Stewart, Alexandre F. R.; Tan, Sian-Tsung; Thorgeirsson, Gudmundur; van der Schoot, C. Ellen; Wagner, Peter J.; Wells, George A.; Wild, Philipp S.; Yang, Tsun-Po; Basart, Hanneke; Boerwinkle, Eric; Brambilla, Paolo; Cambien, Francois; Cupples, Adrienne L.; Dehghan, Abbas; Diemert, Patrick; Epstein, Stephen E.; Evans, Alun; Ferrario, Marco M.; Gauguier, Dominique; Goodall, Alison H.; Gudnason, Villi; Hazen, Stanley L.; Holm, Hilma; Iribarren, Carlos; Jang, Yangsoo; Kim, Hyo-Soo; Laaksonen, Reijo; Lee, Ji-Young; Ouwehand, Willem H.; Parish, Sarah; Park, Jeong E.; Rader, Daniel J.; Schadt, Eric; Shah, Svati H.; Stark, Klaus; Trégouët, David-Alexandre; Virtamo, Jarmo; Wallentin, Lars; Wareham, Nicholas; Zimmermann, Martina E.; Nieminen, Markku S.; Hengstenberg, Christian; Sandhu, Manjinder S.; Pastinen, Tomi; Hovingh, G. Kees; Zalloua, Pierre A.; Siegbahn, Agneta; Schreiber, Stefan; Ripatti, Samuli; Blankenberg, Stefan S.; O'Donnell, Christopher; Reilly, Muredach P.; Collins, Rory; Kathiresan, Sekar; Roberts, Robert; Schunkert, Heribert; Pattaro, Cristian; Köttgen, Anna; Garnaas, Maija; Böger, Carsten A.; Chen, Ming-Huei; Tin, Adrienne; Taliun, Daniel; Li, Man; Gao, Xiaoyi; Gorski, Mathias; Yang, Qiong; Hundertmark, Claudia; Foster, Meredith C.; O'Seaghdha, Conall M.; Glazer, Nicole; Smith, Albert V.; Struchalin, Maksim; Li, Guo; Johnson, Andrew D.; Gierman, Hinco J.; Feitosa, Mary; Hwang, Shih-Jen; Atkinson, Elizabeth J.; Cornelis, Marilyn C.; Chouraki, Vincent; Holliday, Elizabeth G.; Sorice, Rossella; Kutalik, Zoltan; Deshmukh, Harshal; Ulivi, Sheila; Chu, Audrey Y.; Murgia, Federico; Trompet, Stella; Imboden, Medea; Kollerits, Barbara; Pistis, Giorgio; Launer, Lenore J.; Aspelund, Thor; Eiriksdottir, Gudny; Mitchell, Braxton D.; Schmidt, Helena; Cavalieri, Margherita; Rao, Madhumathi; de Andrade, Mariza; Turner, Stephen T.; Ding, Jingzhong; Andrews, Jeanette S.; Freedman, Barry I.; Döring, Angela; Wichmann, H. -Erich; Kolcic, Ivana; Zemunik, Tatijana; Boban, Mladen; Minelli, Cosetta; Wheeler, Heather E.; Igl, Wilmar; Zaboli, Ghazal; Wild, Sarah H.; Wright, Alan F.; Ellinghaus, David; Nöthlings, Ute; Jacobs, Gunnar; Biffar, Reiner; Endlich, Karlhans; Ernst, Florian; Kroemer, Heyo K.; Nauck, Matthias; Stracke, Sylvia; Völzke, Henry; Uitterlinden, Andre G.; Aulchenko, Yurii S.; Polasek, Ozren; Hastie, Nick; Vitart, Veronique; Helmer, Catherine; Wang, Jie Jin; Ruggiero, Daniela; Bergmann, Sven; Nikopensius, Tiit; Province, Michael; Ketkar, Shamika; Colhoun, Helen; Doney, Alex; Robino, Antonietta; Giulianini, Franco; Krämer, Bernhard K.; Portas, Laura; Ford, Ian; Buckley, Brendan M.; Adam, Martin; Thun, Gian-Andri; Sala, Cinzia; Metzger, Marie; Mitchell, Paul; Ciullo, Marina; Kim, Stuart K.; Palmer, Colin; Gasparini, Paolo; Pirastu, Mario; Jukema, J. Wouter; Probst-Hensch, Nicole M.; Toniolo, Daniela; Coresh, Josef; Schmidt, Reinhold; Borecki, Ingrid; Kardia, Sharon L. R.; Curhan, Gary C.; Gyllensten, Ulf; Franke, Andre; Rettig, Rainer; Witteman, Jacqueline C. M.; Ridker, Paul; Parsa, Afshin; Goessling, Wolfram; Kao, W. H. Linda; de Boer, Ian H.; Glazer, Nicole L.; Peralta, Carmen A.; Zhao, Jing Hua; Akylbekova, Ermeg; Kramer, Holly; Arking, Dan E.; Franceschini, Nora; Egan, Josephine; Hernandez, Dena; Reilly, Muredach; Townsend, Raymond R.; Lumley, Thomas; Kestenbaum, Bryan; Haritunians, Talin; Waeber, Gerard; Mooser, Vincent; Waterworth, Dawn; Lu, Xiaoning; Leak, Tennille S.; Aasarød, Knut; Skorpen, Frank; Baumert, Jens; Devuyst, Olivier; Mychaleckyj, Josyf C.; Hastie, Nicholas D.; Curhan, Gary; Hallan, Stein; Navis, Gerjan; Shlipak, Michael G.; Bull, Shelley B.; Paterson, Andrew D.; Rotter, Jerome I.; Beckmann, Jacques S.; Dreisbach, Albert W.; Kao, W. H. L.; Styrkarsdottir, Unnur; Evangelou, Evangelos; Hsu, Yi-Hsiang; Duncan, Emma L.; Ntzani, Evangelia E.; Oei, Ling; Albagha, Omar M. E.; Kemp, John P.; Koller, Daniel L.; Minster, Ryan L.; Vandenput, Liesbeth; Willner, Dana; Xiao, Su-Mei; Yerges-Armstrong, Laura M.; Zheng, Hou-Feng; Alonso, Nerea; Eriksson, Joel; Kammerer, Candace M.; Kaptoge, Stephen K.; Leo, Paul J.; Wilson, Scott G.; Aalto, Ville; Alen, Markku; Aragaki, Aaron K.; Center, Jacqueline R.; Dailiana, Zoe; Duggan, David J.; Garcia-Giralt, Natàlia; Giroux, Sylvie; Hocking, Lynne J.; Husted, Lise Bjerre; Jameson, Karen A.; Khusainova, Rita; Kim, Ghi Su; Koromila, Theodora; Kruk, Marcin; Laaksonen, Marika; LaCroix, Andrea Z.; Lee, Seung Hun; Leung, Ping C.; Lewis, Joshua R.; Masi, Laura; Mencej-Bedrac, Simona; Nguyen, Tuan V.; Nogues, Xavier; Patel, Millan S.; Prezelj, Janez; Scollen, Serena; Siggeirsdottir, Kristin; Svensson, Olle; Trummer, Olivia; van Schoor, Natasja M.; Woo, Jean; Zhu, Kun; Balcells, Susana; Brandi, Maria Luisa; Cheng, Sulin; Christiansen, Claus; Cooper, Cyrus; Frost, Morten; Goltzman, David; González-Macías, Jesús; Karlsson, Magnus; Khusnutdinova, Elza; Koh, Jung-Min; Kollia, Panagoula; Langdahl, Bente Lomholt; Leslie, William D.; Lips, Paul; Ljunggren, Östen; Lorenc, Roman S.; Marc, Janja; Mellström, Dan; Obermayer-Pietsch, Barbara; Olmos, José M.; Pettersson-Kymmer, Ulrika; Reid, David M.; Riancho, José A.; Rousseau, François; Tang, Nelson L. S.; Urreizti, Roser; van Hul, Wim; Zarrabeitia, María T.; Castano-Betancourt, Martha; Herrera, Lizbeth; Ingvarsson, Thorvaldur; Johannsdottir, Hrefna; Kwan, Tony; Li, Rui; Luben, Robert; Medina-Gómez, Carolina; Palsson, Stefan Th; Reppe, Sjur; Sigurdsson, Gunnar; van Meurs, Joyce B. J.; Verlaan, Dominique; Williams, Frances M. K.; Zhou, Yanhua; Gautvik, Kaare M.; Raychaudhuri, Soumya; Cauley, Jane A.; Clark, Graeme R.; Cummings, Steven R.; Danoy, Patrick; Dennison, Elaine M.; Eastell, Richard; Eisman, John A.; Jackson, Rebecca D.; Jones, Graeme; Khaw, Kay-Tee; McCloskey, Eugene; Nandakumar, Kannabiran; Nicholson, Geoffrey C.; Peacock, Munro; Pols, Huibert A. P.; Prince, Richard L.; Reid, Ian R.; Robbins, John; Sambrook, Philip N.; Sham, Pak Chung; Tylavsky, Frances A.; Wareham, Nick J.; Econs, Michael J.; Kung, Annie Wai Chee; Reeve, Jonathan; Streeten, Elizabeth A.; Karasik, David; Richards, J. Brent; Brown, Matthew A.; Ralston, Stuart H.; Ioannidis, John P. A.; Kiel, Douglas P.; McKnight, Amy Jayne; Forsblom, Carol; Isakova, Tamara; McKay, Gareth J.; Williams, Winfred W.; Sadlier, Denise M.; Mäkinen, Ville-Petteri; Swan, Elizabeth J.; Palmer, Cameron; Boright, Andrew P.; Ahlqvist, Emma; Deshmukh, Harshal A.; Keller, Benjamin J.; Huang, Huateng; Ahola, Aila; Fagerholm, Emma; Gordin, Daniel; Harjutsalo, Valma; He, Bing; Heikkilä, Outi; Hietala, Kustaa; Kytö, Janne; Lahermo, Päivi; Lehto, Markku; Österholm, Anne-May; Parkkonen, Maija; Pitkäniemi, Janne; Rosengård-Bärlund, Milla; Saraheimo, Markku; Sarti, Cinzia; Söderlund, Jenny; Soro-Paavonen, Aino; Syreeni, Anna; Thorn, Lena M.; Tikkanen, Heikki; Tolonen, Nina; Tryggvason, Karl; Wadén, Johan; Gill, Geoffrey V.; Prior, Sarah; Guiducci, Candace; Mirel, Daniel B.; Taylor, Andrew; Hosseini, Mohsen; Parving, Hans-Henrik; Rossing, Peter; Tarnow, Lise; Ladenvall, Claes; Alhenc-Gelas, François; Lefebvre, Pierre; Rigalleau, Vincent; Roussel, Ronan; Tregouet, David-Alexandre; Maestroni, Anna; Maestroni, Silvia; Falhammar, Henrik; Gu, Tianwei; Möllsten, Anna; Cimponeriu, Dan; Mihai, Ioana; Mota, Maria; Mota, Eugen; Serafinceanu, Cristian; Stavarachi, Monica; Hanson, Robert L.; Nelson, Robert G.; Kretzler, Matthias; Colhoun, Helen M.; Panduru, Nicolae Mircea; Gu, Harvest F.; Brismar, Kerstin; Zerbini, Gianpaolo; Hadjadj, Samy; Marre, Michel; Lajer, Maria; Waggott, Daryl; Savage, David A.; Bain, Stephen C.; Martin, Finian; Godson, Catherine; Groop, Per-Henrik; Maxwell, Alexander P.; Sengupta, Sebanti; Peloso, Gina M.; Ganna, Andrea; Mora, Samia; Chang, Hsing-Yi; Demirkan, Ayşe; den Hertog, Heleen M.; Donnelly, Louise A.; Fraser, Ross M.; Freitag, Daniel F.; Gurdasani, Deepti; Kaakinen, Marika; Kettunen, Johannes; Li, Xiaohui; Montasser, May E.; Petersen, Ann-Kristin; Saxena, Richa; Service, Susan K.; Shah, Sonia; Sidore, Carlo; Surakka, Ida; van den Herik, Evita G.; Volcik, Kelly A.; Asiki, Gershim; Been, Latonya F.; Bolton, Jennifer L.; Bonnycastle, Lori L.; Burnett, Mary S.; Cesana, Giancarlo; Elliott, Paul; Eyjolfsson, Gudmundur Ingi; Goodarzi, Mark O.; Gravito, Martha L.; Hartikainen, Anna-Liisa; Hung, Yi-Jen; Jones, Michelle R.; Kaleebu, Pontiano; Kastelein, John J. P.; Kim, Eric; Komulainen, Pirjo; Lin, Shih-Yi; Müller, Gabrielle; Nieminen, Tuomo V. M.; Nsubuga, Rebecca N.; Olafsson, Isleifur; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Ruokonen, Aimo; Samani, Nilesh; Seeley, Janet; Silander, Kaisa; Tiret, Laurence; van Pelt, L. Joost; Wainwright, Nicholas; Wijmenga, Cisca; Willemsen, Gonneke; Young, Elizabeth H.; Bennett, Franklyn; Boomsma, Dorret I.; Bovet, Pascal; Chen, Yii-Der Ida; Feranil, Alan B.; Freimer, Nelson B.; Hingorani, Aroon; Hsiung, Chao Agnes; Järvelin, Marjo-Riitta; Kesäniemi, Antero; Koudstaal, Peter J.; Krauss, Ronald M.; Kyvik, Kirsten O.; Martin, Nicholas G.; Meneton, Pierre; Moilanen, Leena; Price, Jackie F.; Sanghera, Dharambir K.; Sheu, Wayne H.-H.; Whitfield, John B.; Wolffenbuttel, Bruce H. R.; Ordovas, Jose M.; Rich, Stephen S.; Abecasis, Gonçalo R.; Abecasis, Gonçalo; Caulfield, Mark; Chasman, Dan; Ehret, Georg; Johnson, Andrew; Johnson, Louise; Larson, Martin; Levy, Daniel; Munroe, Patricia; Newton-Cheh, Christopher; O'Reilly, Paul; Palmas, Walter; Psaty, Bruce; Rice, Kenneth; Smith, Albert; Snider, Harold; Tobin, Martin; Verwoert, Germaine; Rice, Kenneth M.; Tobin, Martin D.; Verwoert, Germaine C.; Pihur, Vasyl; O'Reilly, Paul F.; Launer, Lenore; Aulchenko, Yurii; Heath, Simon; Sõber, Siim; Arora, Pankaj; Zhang, Feng; Lucas, Gavin; Milaneschi, Yuri; Parker, Alex N.; Fava, Cristiano; Fox, Ervin R.; Go, Min Jin; Kao, Wen Hong Linda; Sjögren, Marketa; Vinay, D. G.; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H.; Shi, Gang; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Matullo, Giuseppe; Gaunt, Tom R.; Onland-Moret, N. Charlotte; Cooper, Matthew N.; Platou, Carl G. P.; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Kuznetsova, Tatiana; Uiterwaal, Cuno S. P. M.; Adeyemo, Adebowale; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D.; Chang, Yen-Pei C.; Steinle, Nanette I.; Grobbee, Diederick E.; Kardia, Sharon L.; Morrison, Alanna C.; Najjar, Samer; Hadley, David; Connell, John M.; Day, Ian N. M.; Lawlor, Debbie A.; Beilby, John P.; Lawrence, Robert W.; Ongen, Halit; Li, Yali; Young, J. H.; Bis, Joshua C.; Bolton, Judith A. Hoffman; Chaturvedi, Nish; Islam, Muhammad; Jafar, Tazeen H.; Kulkarni, Smita R.; Grässler, Jürgen; Howard, Philip; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Weder, Alan B.; Sun, Yan V.; Scott, Laura J.; Peltonen, Leena; Vartiainen, Erkki; Brand, Stefan-Martin; Wang, Thomas J.; Burton, Paul R.; Artigas, Maria Soler; Dong, Yanbin; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K.; Rudock, Megan E.; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairajan; Tripathy, Vikal; Langefeld, Carl D.; Rosengren, Annika; Thelle, Dag S.; Corsi, Anna Maria; Singleton, Andrew; Hilton, Gina; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Cho, Yoon Shin; Kim, Hyung-Lae; Scott, James; Sehmi, Joban S.; Hedblad, Bo; Nilsson, Peter; Stanèáková, Alena; Raffel, Leslie J.; Yao, Jie; O'Donnell, Chris; Schwartz, Stephen M.; Ikram, M. Arfan; Longstreth, W. T.; Mosley, Thomas H.; Seshadri, Sudha; Shrine, Nick R. G.; Wain, Louise V.; Morken, Mario A.; Laitinen, Jaana; Zitting, Paavo; Cooper, Jackie A.; van Gilst, Wiek H.; Janipalli, Charles S.; Mani, K. Radha; Yajnik, Chittaranjan S.; Mattace-Raso, Francesco U. S.; Lakatta, Edward G.; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J.; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Zhai, Guangju; Meschia, James F.; Sharma, Pankaj; Terzic, Janos; Kumar, M. J. Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E.; Fowkes, F. Gerald R.; Charchar, Fadi J.; Rotimi, Charles; Bots, Michiel L.; Brand, Eva; Talmud, Philippa J.; Nyberg, Fredrik; Laan, Maris; van der Schouw, Yvonne T.; Casas, Juan P.; Vineis, Paolo; Ganesh, Santhi K.; Wong, Tien Y.; Tai, E. Shyong; Rao, Dabeeru C.; Morris, Richard W.; Dominiczak, Anna F.; Marmot, Michael G.; Miki, Tetsuro; Chandak, Giriraj R.; Zhu, Xiaofeng; Gyllensten, Ulf B.; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J. G.; Uda, Manuela; Vasan, Ramachandran S.; Larson, Martin G.; Anderson, Carl A.; Gordon, Scott D.; Guo, Qun; Henders, Anjali K.; Lambert, Ann; Lee, Sang Hong; Kraft, Peter; Kennedy, Stephen H.; Macgregor, Stuart; Missmer, Stacey A.; Painter, Jodie N.; Roseman, Fenella; Treloar, Susan A.; Wallace, Leanne; Alizadeh, Behrooz Z.; de Boer, Rudolf A.; Boezen, H. Marike; van der Klauw, Melanie M.; Ormel, Johan; Postma, Dirkje S.; Rosmalen, Judith G. M.; Slaets, Joris P.; Lagou, Vasiliki; Welch, Ryan P.; Wheeler, Eleanor; Rehnberg, Emil; Lecoeur, Cecile; Johnson, Paul C. D.; Hottenga, Jouke-Jan; Salo, Perttu; Timpson, Nicholas J.; Bielak, Lawrence F.; Zhao, Wei; Horikoshi, Momoko; Navarro, Pau; Esko, Tönu; Chen, Han; Robertson, Neil; Rybin, Denis; Kang, Hyun Min; Song, Kijoung; An, Ping; Marullo, Letizia; Jansen, Hanneke; Edkins, Sarah; Varga, Tibor V.; Oksa, Heikki; Antonella, Mulas; Kong, Augustine; Herder, Christian; Antti, Jula; Miljkovic, Iva; Atalay, Mustafa; Kiess, Wieland; Smit, Johannes H.; Campbell, Susan; Fowkes, Gerard R.; Rathmann, Wolfgang; Maerz, Winfried; Province, Michael A.; Watanabe, Richard M.; Toenjes, Anke; Peyser, Patricia A.; Körner, Antje; Dupuis, Josée; Cucca, Francesco; Balkau, Beverley; Bouatia-Naji, Nabila; Ahmadi, Kourosh R.; Ainali, Chrysanthi; Bataille, Veronique; Bell, Jordana T.; Buil, Alfonso; Dermitzakis, Emmanouil T.; Dimas, Antigone S.; Durbin, Richard; Glass, Daniel; Hassanali, Neelam; Ingle, Catherine; Knowles, David; Krestyaninova, Maria; Lowe, Christopher E.; Meduri, Eshwar; di Meglio, Paola; Montgomery, Stephen B.; Nestle, Frank O.; Nica, Alexandra C.; Nisbet, James; O'Rahilly, Stephen; Parts, Leopold; Potter, Simon; Sekowska, Magdalena; Shin, So-Youn; Small, Kerrin S.; Surdulescu, Gabriela; Travers, Mary E.; Tsaprouni, Loukia; Tsoka, Sophia; Wilk, Alicja; Matise, Tara; Buyske, Steve; Higashio, Julia; Williams, Rasheeda; Nato, Andrew; Ambite, Jose Luis; Manolio, Teri; Hindorff, Lucia; Heiss, Gerardo; Taylor, Kira; Avery, Christy; Graff, Misa; Lin, Danyu; Quibrera, Miguel; Cochran, Barbara; Kao, Linda; Umans, Jason; Cole, Shelley; MacCluer, Jean; Person, Sharina; Pankow, James; Gross, Myron; Fornage, Myriam; Durda, Peter; Jenny, Nancy; Patsy, Bruce; Arnold, Alice; Buzkova, Petra; Crawford, Dana; Haines, Jonathan; Murdock, Deborah; Glenn, Kim; Brown-Gentry, Kristin; Thornton-Wells, Tricia; Dumitrescu, Logan; Jeff, Janina; Bush, William S.; Mitchell, Sabrina L.; Goodloe, Robert; Wilson, Sarah; Boston, Jonathan; Malinowski, Jennifer; Restrepo, Nicole; Oetjens, Matthew; Fowke, Jay; Zheng, Wei; Spencer, Kylee; Ritchie, Marylyn; Pendergrass, Sarah; Le Marchand, Loïc; Wilkens, Lynne; Park, Lani; Tiirikainen, Maarit; Kolonel, Laurence; Lim, Unhee; Cheng, Iona; Wang, Hansong; Shohet, Ralph; Haiman, Christopher; Stram, Daniel; Henderson, Brian; Monroe, Kristine; Schumacher, Fredrick; Anderson, Garnet; Carlson, Chris; Prentice, Ross; LaCroix, Andrea; Wu, Chunyuan; Carty, Cara; Gong, Jian; Rosse, Stephanie; Young, Alicia; Haessler, Jeff; Kocarnik, Jonathan; Lin, Yi; Jackson, Rebecca; Duggan, David; Kuller, Lew; He, Chunyan; Sulem, Patrick; Barbalic, Maja; Broer, Linda; Byrne, Enda M.; Gudbjartsson, Daniel F.; McArdle, Patick F.; Porcu, Eleonora; van Wingerden, Sophie; Zhuang, Wei V.; Lauc, Lovorka Barac; Broekmans, Frank J.; Burri, Andrea; Chanock, Stephen J.; Chen, Constance; Corre, Tanguy; Coviello, Andrea D.; D'Adamo, Pio; Davies, Gail; Deary, Ian J.; Dedoussis, George V. Z.; Deloukas, Panagiotis; Ebrahim, Shah; Fauser, Bart C. J. M.; Ferreli, Liana; Folsom, Aaron R.; Hall, Per; Hankinson, Susan E.; Hass, Merli; Heath, Andrew C.; Janssens, A. Cecile J. W.; Keyzer, Jules; Lahti, Jari; Lai, Sandra; Laisk, Triin; Laven, Joop S. E.; Liu, Jianjun; Lopez, Lorna M.; Louwers, Yvonne V.; Marongiu, Mara; Klaric, Irena Martinovic; Masciullo, Corrado; Medland, Sarah E.; Melzer, David; Newman, Anne B.; Paré, Guillaume; Peeters, Petra H. M.; Plump, Andrew S.; Pop, Victor J. M.; Räikkönen, Katri; Salumets, Andres; Smith, Jennifer A.; Stacey, Simon N.; Starr, John M.; Stathopoulou, Maria G.; Tenesa, Albert; Tryggvadottir, Laufey; Tsui, Kim; van Dam, Rob M.; van Gils, Carla H.; van Nierop, Peter; Vink, Jacqueline M.; Voorhuis, Marlies; Waeber, Gérard; Wallaschofski, Henri; Widen, Elisabeth; Wijnands-van Gent, Colette J. M.; Zgaga, Lina; Zygmunt, Marek; Arnold, Alice M.; Buring, Julie E.; Crisponi, Laura; Demerath, Ellen W.; Murray, Anna; Visser, Jenny A.; Lunetta, Kathryn L.; Elks, Cathy E.; Cousminer, Diana L.; Feenstra, Bjarke; Lin, Peng; McArdle, Patrick F.; van Wingerden, Sophie W.; Smith, Erin N.; Ulivi, Shelia; Warrington, Nicole M.; Alavere, Helen; Barroso, Ines; Berenson, Gerald S.; Blackburn, Hannah; Busonero, Fabio; Chen, Wei; Couper, David; Easton, Douglas F.; Eriksson, Johan; Foroud, Tatiana; Geller, Frank; Hernandez, Dena G.; Kilpeläinen, Tuomas O.; Li, Shengxu; Melbye, Mads; Murray, Jeffrey C.; Murray, Sarah S.; Ness, Andrew R.; Northstone, Kate; Pennell, Craig E.; Pharoah, Paul; Rafnar, Thorunn; Rice, John P.; Ring, Susan M.; Schork, Nicholas J.; Segrè, Ayellet V.; Sovio, Ulla; Srinivasan, Sathanur R.; Tammesoo, Mar-Liis; Tyrer, Jonathon; van Meurs, Joyve B. J.; Weedon, Michael N.; Young, Lauren; Zhuang, Wei Vivian; Bierut, Laura J.; Boyd, Heather A.

    2015-01-01

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide

  5. Genetic and Environmental Links between Natural Language Use and Cognitive Ability in Toddlers

    Science.gov (United States)

    Canfield, Caitlin F.; Edelson, Lisa R.; Saudino, Kimberly J.

    2017-01-01

    Although the phenotypic correlation between language and nonverbal cognitive ability is well-documented, studies examining the etiology of the covariance between these abilities are scant, particularly in very young children. The goal of this study was to address this gap in the literature by examining the genetic and environmental links between…

  6. New genetic loci link adipose and insulin biology to body fat distribution

    DEFF Research Database (Denmark)

    Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C.

    2015-01-01

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome...

  7. Linking CDOM spectral absorption to dissolved organic carbon concentrations and loadings in boreal estuaries

    Science.gov (United States)

    Asmala, Eero; Stedmon, Colin A.; Thomas, David N.

    2012-10-01

    The quantity of chromophoric dissolved organic matter (CDOM) and dissolved organic carbon (DOC) in three Finnish estuaries (Karjaanjoki, Kyrönjoki and Kiiminkijoki) was investigated, with respect to predicting DOC concentrations and loadings from spectral CDOM absorption measurements. Altogether 87 samples were collected from three estuarine transects which were studied in three seasons, covering a salinity range between 0 and 6.8, and DOC concentrations from 1572 μmol l-1 in freshwater to 222 μmol l-1 in coastal waters. CDOM absorption coefficient, aCDOM(375) values followed the trend in DOC concentrations across the salinity gradient and ranged from 1.67 to 33.4 m-1. The link between DOC and CDOM was studied using a range of wavelengths and algorithms. Wavelengths between 250 and 270 nm gave the best predictions with single linear regression. Total dissolved iron was found to influence the prediction in wavelengths above 520 nm. Despite significant seasonal and spatial differences in DOC-CDOM models, a universal relationship was tested with an independent data set and found to be robust. DOC and CDOM yields (loading/catchment area) from the catchments ranged from 1.98 to 5.44 g C m-2 yr-1, and 1.67 to 11.5 aCDOM(375) yr-1, respectively.

  8. Genetic algorithm for the optimization of the loading pattern for reactor core fuel management

    International Nuclear Information System (INIS)

    Zhou Sheng; Hu Yongming; zheng Wenxiang

    2000-01-01

    The paper discusses the application of a genetic algorithm to the optimization of the loading pattern for in-core fuel management with the NP characteristics. The algorithm develops a matrix model for the fuel assembly loading pattern. The burnable poisons matrix was assigned randomly considering the distributed nature of the poisons. A method based on the traveling salesman problem was used to solve the problem. A integrated code for in-core fuel management was formed by combining this code with a reactor physics code

  9. Simultaneous optimization of the cavity heat load and trip rates in linacs using a genetic algorithm

    Directory of Open Access Journals (Sweden)

    Balša Terzić

    2014-10-01

    Full Text Available In this paper, a genetic algorithm-based optimization is used to simultaneously minimize two competing objectives guiding the operation of the Jefferson Lab’s Continuous Electron Beam Accelerator Facility linacs: cavity heat load and radio frequency cavity trip rates. The results represent a significant improvement to the standard linac energy management tool and thereby could lead to a more efficient Continuous Electron Beam Accelerator Facility configuration. This study also serves as a proof of principle of how a genetic algorithm can be used for optimizing other linac-based machines.

  10. Application of the distributed genetic algorithm for loading pattern optimization problems

    International Nuclear Information System (INIS)

    Hashimoto, Hiroshi; Yamamoto, Akio

    2000-01-01

    The distributed genetic algorithm (DGA) is applied for loading pattern optimization problems of the pressurized water reactors (PWR). Due to stiff nature of the loading pattern optimizations (e.g. multi-modality and non-linearity), stochastic methods like the simulated annealing or the genetic algorithm (GA) are widely applied for these problems. A basic concept of DGA is based on that of GA. However, DGA equally distributes candidates of solutions (i.e. loading patterns) to several independent 'islands' and evolves them in each island. Migrations of some candidates are performed among islands with a certain period. Since candidates of solutions independently evolve in each island with accepting different genes of migrants from other islands, premature convergence in the traditional GA can be prevented. Because many candidate loading patterns should be evaluated in one generation of GA or DGA, the parallelization in these calculations works efficiently. Parallel efficiency was measured using our optimization code and good load balance was attained even in a heterogeneous cluster environment due to dynamic distribution of the calculation load. The optimization code is based on the client/server architecture with the TCP/IP native socket and a client (optimization module) and calculation server modules communicate the objects of loading patterns each other. Throughout the sensitivity study on optimization parameters of DGA, a suitable set of the parameters for a test problem was identified. Finally, optimization capability of DGA and the traditional GA was compared in the test problem and DGA provided better optimization results than the traditional GA. (author)

  11. Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

    Science.gov (United States)

    Borgulova, I; Putzova, M; Soldatova, I; Krautova, L; Pecnova, L; Mika, J; Kren, R; Potuznikova, P; Stejskal, D

    2015-01-01

    Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplification (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fifteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confirmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. PGD procedure using MDA amplification followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).

  12. Consequences of population topology for studying gene flow using link-based landscape genetic methods.

    Science.gov (United States)

    van Strien, Maarten J

    2017-07-01

    Many landscape genetic studies aim to determine the effect of landscape on gene flow between populations. These studies frequently employ link-based methods that relate pairwise measures of historical gene flow to measures of the landscape and the geographical distance between populations. However, apart from landscape and distance, there is a third important factor that can influence historical gene flow, that is, population topology (i.e., the arrangement of populations throughout a landscape). As the population topology is determined in part by the landscape configuration, I argue that it should play a more prominent role in landscape genetics. Making use of existing literature and theoretical examples, I discuss how population topology can influence results in landscape genetic studies and how it can be taken into account to improve the accuracy of these results. In support of my arguments, I have performed a literature review of landscape genetic studies published during the first half of 2015 as well as several computer simulations of gene flow between populations. First, I argue why one should carefully consider which population pairs should be included in link-based analyses. Second, I discuss several ways in which the population topology can be incorporated in response and explanatory variables. Third, I outline why it is important to sample populations in such a way that a good representation of the population topology is obtained. Fourth, I discuss how statistical testing for link-based approaches could be influenced by the population topology. I conclude the article with six recommendations geared toward better incorporating population topology in link-based landscape genetic studies.

  13. Highly specific detection of genetic modification events using an enzyme-linked probe hybridization chip.

    Science.gov (United States)

    Zhang, M Z; Zhang, X F; Chen, X M; Chen, X; Wu, S; Xu, L L

    2015-08-10

    The enzyme-linked probe hybridization chip utilizes a method based on ligase-hybridizing probe chip technology, with the principle of using thio-primers for protection against enzyme digestion, and using lambda DNA exonuclease to cut multiple PCR products obtained from the sample being tested into single-strand chains for hybridization. The 5'-end amino-labeled probe was fixed onto the aldehyde chip, and hybridized with the single-stranded PCR product, followed by addition of a fluorescent-modified probe that was then enzymatically linked with the adjacent, substrate-bound probe in order to achieve highly specific, parallel, and high-throughput detection. Specificity and sensitivity testing demonstrated that enzyme-linked probe hybridization technology could be applied to the specific detection of eight genetic modification events at the same time, with a sensitivity reaching 0.1% and the achievement of accurate, efficient, and stable results.

  14. Genetic determination of human facial morphology: links between cleft-lips and normal variation.

    Science.gov (United States)

    Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G; Niessen, Wiro J; Breteler, Monique M B; van der Lugt, Aad; Würtz, Rolf P; Nöthen, Markus M; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred

    2011-11-01

    Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

  15. A Hypothesis for Using Pathway Genetic Load Analysis for Understanding Complex Outcomes in Bilirubin Encephalopathy

    Science.gov (United States)

    Riordan, Sean M.; Bittel, Douglas C.; Le Pichon, Jean-Baptiste; Gazzin, Silvia; Tiribelli, Claudio; Watchko, Jon F.; Wennberg, Richard P.; Shapiro, Steven M.

    2016-01-01

    Genetic-based susceptibility to bilirubin neurotoxicity and chronic bilirubin encephalopathy (kernicterus) is still poorly understood. Neonatal jaundice affects 60–80% of newborns, and considerable effort goes into preventing this relatively benign condition from escalating into the development of kernicterus making the incidence of this potentially devastating condition very rare in more developed countries. The current understanding of the genetic background of kernicterus is largely comprised of mutations related to alterations of bilirubin production, elimination, or both. Less is known about mutations that may predispose or protect against CNS bilirubin neurotoxicity. The lack of a monogenetic source for this risk of bilirubin neurotoxicity suggests that disease progression is dependent upon an overall decrease in the functionality of one or more essential genetically controlled metabolic pathways. In other words, a “load” is placed on key pathways in the form of multiple genetic variants that combine to create a vulnerable phenotype. The idea of epistatic interactions creating a pathway genetic load (PGL) that affects the response to a specific insult has been previously reported as a PGL score. We hypothesize that the PGL score can be used to investigate whether increased susceptibility to bilirubin-induced CNS damage in neonates is due to a mutational load being placed on key genetic pathways important to the central nervous system's response to bilirubin neurotoxicity. We propose a modification of the PGL score method that replaces the use of a canonical pathway with custom gene lists organized into three tiers with descending levels of evidence combined with the utilization of single nucleotide polymorphism (SNP) causality prediction methods. The PGL score has the potential to explain the genetic background of complex bilirubin induced neurological disorders (BIND) such as kernicterus and could be the key to understanding ranges of outcome severity

  16. Advanced and flexible genetic algorithms for BWR fuel loading pattern optimization

    International Nuclear Information System (INIS)

    Martin-del-Campo, Cecilia; Palomera-Perez, Miguel-Angel; Francois, Juan-Luis

    2009-01-01

    This work proposes advances in the implementation of a flexible genetic algorithm (GA) for fuel loading pattern optimization for Boiling Water Reactors (BWRs). In order to avoid specific implementations of genetic operators and to obtain a more flexible treatment, a binary representation of the solution was implemented; this representation had to take into account that a little change in the genotype must correspond to a little change in the phenotype. An identifier number is assigned to each assembly by means of a Gray Code of 7 bits and the solution (the loading pattern) is represented by a binary chain of 777 bits of length. Another important contribution is the use of a Fitness Function which includes a Heuristic Function and an Objective Function. The Heuristic Function which is defined to give flexibility on the application of a set of positioning rules based on knowledge, and the Objective Function that contains all the parameters which qualify the neutronic and thermal hydraulic performances of each loading pattern. Experimental results illustrating the effectiveness and flexibility of this optimization algorithm are presented and discussed.

  17. Type 2 Diabetes Mellitus and Cardiovascular Disease: Genetic and Epigenetic Links

    Directory of Open Access Journals (Sweden)

    Salvatore De Rosa

    2018-01-01

    Full Text Available Type 2 diabetes mellitus (DM is a common metabolic disorder predisposing to diabetic cardiomyopathy and atherosclerotic cardiovascular disease (CVD, which could lead to heart failure through a variety of mechanisms, including myocardial infarction and chronic pressure overload. Pathogenetic mechanisms, mainly linked to hyperglycemia and chronic sustained hyperinsulinemia, include changes in metabolic profiles, intracellular signaling pathways, energy production, redox status, increased susceptibility to ischemia, and extracellular matrix remodeling. The close relationship between type 2 DM and CVD has led to the common soil hypothesis, postulating that both conditions share common genetic and environmental factors influencing this association. However, although the common risk factors of both CVD and type 2 DM, such as obesity, insulin resistance, dyslipidemia, inflammation, and thrombophilia, can be identified in the majority of affected patients, less is known about how these factors influence both conditions, so that efforts are still needed for a more comprehensive understanding of this relationship. The genetic, epigenetic, and environmental backgrounds of both type 2 DM and CVD have been more recently studied and updated. However, the underlying pathogenetic mechanisms have seldom been investigated within the broader shared background, but rather studied in the specific context of type 2 DM or CVD, separately. As the precise pathophysiological links between type 2 DM and CVD are not entirely understood and many aspects still require elucidation, an integrated description of the genetic, epigenetic, and environmental influences involved in the concomitant development of both diseases is of paramount importance to shed new light on the interlinks between type 2 DM and CVD. This review addresses the current knowledge of overlapping genetic and epigenetic aspects in type 2 DM and CVD, including microRNAs and long non-coding RNAs, whose

  18. Cumulative t-link threshold models for the genetic analysis of calving ease scores

    Directory of Open Access Journals (Sweden)

    Tempelman Robert J

    2003-09-01

    Full Text Available Abstract In this study, a hierarchical threshold mixed model based on a cumulative t-link specification for the analysis of ordinal data or more, specifically, calving ease scores, was developed. The validation of this model and the Markov chain Monte Carlo (MCMC algorithm was carried out on simulated data from normally and t4 (i.e. a t-distribution with four degrees of freedom distributed populations using the deviance information criterion (DIC and a pseudo Bayes factor (PBF measure to validate recently proposed model choice criteria. The simulation study indicated that although inference on the degrees of freedom parameter is possible, MCMC mixing was problematic. Nevertheless, the DIC and PBF were validated to be satisfactory measures of model fit to data. A sire and maternal grandsire cumulative t-link model was applied to a calving ease dataset from 8847 Italian Piemontese first parity dams. The cumulative t-link model was shown to lead to posterior means of direct and maternal heritabilities (0.40 ± 0.06, 0.11 ± 0.04 and a direct maternal genetic correlation (-0.58 ± 0.15 that were not different from the corresponding posterior means of the heritabilities (0.42 ± 0.07, 0.14 ± 0.04 and the genetic correlation (-0.55 ± 0.14 inferred under the conventional cumulative probit link threshold model. Furthermore, the correlation (> 0.99 between posterior means of sire progeny merit from the two models suggested no meaningful rerankings. Nevertheless, the cumulative t-link model was decisively chosen as the better fitting model for this calving ease data using DIC and PBF.

  19. An Advanced Coupled Genetic Algorithm for Identifying Unknown Moving Loads on Bridge Decks

    Directory of Open Access Journals (Sweden)

    Sang-Youl Lee

    2014-01-01

    Full Text Available This study deals with an inverse method to identify moving loads on bridge decks using the finite element method (FEM and a coupled genetic algorithm (c-GA. We developed the inverse technique using a coupled genetic algorithm that can make global solution searches possible as opposed to classical gradient-based optimization techniques. The technique described in this paper allows us to not only detect the weight of moving vehicles but also find their moving velocities. To demonstrate the feasibility of the method, the algorithm is applied to a bridge deck model with beam elements. In addition, 1D and 3D finite element models are simulated to study the influence of measurement errors and model uncertainty between numerical and real structures. The results demonstrate the excellence of the method from the standpoints of computation efficiency and avoidance of premature convergence.

  20. An invasive social insect overcomes genetic load at the sex locus.

    Science.gov (United States)

    Gloag, Rosalyn; Ding, Guiling; Christie, Joshua R; Buchmann, Gabriele; Beekman, Madeleine; Oldroyd, Benjamin P

    2016-11-07

    Some invasive hymenopteran social insects found new populations with very few reproductive individuals. This is despite the high cost of founder effects for such insects, which generally require heterozygosity at a single locus-the complementary sex determiner, csd-to develop as females. Individuals that are homozygous at csd develop as either infertile or subfertile diploid males or not at all. Furthermore, diploid males replace the female workers that are essential for colony function. Here we document how the Asian honey bee (Apis cerana) overcame the diploid male problem during its invasion of Australia. Natural selection prevented the loss of rare csd alleles due to genetic drift and corrected the skew in allele frequencies caused by founder effects to restore high average heterozygosity. Thus, balancing selection can alleviate the genetic load at csd imposed by severe bottlenecks, and so facilitate invasiveness.

  1. Applications of the Chaotic Quantum Genetic Algorithm with Support Vector Regression in Load Forecasting

    Directory of Open Access Journals (Sweden)

    Cheng-Wen Lee

    2017-11-01

    Full Text Available Accurate electricity forecasting is still the critical issue in many energy management fields. The applications of hybrid novel algorithms with support vector regression (SVR models to overcome the premature convergence problem and improve forecasting accuracy levels also deserve to be widely explored. This paper applies chaotic function and quantum computing concepts to address the embedded drawbacks including crossover and mutation operations of genetic algorithms. Then, this paper proposes a novel electricity load forecasting model by hybridizing chaotic function and quantum computing with GA in an SVR model (named SVRCQGA to achieve more satisfactory forecasting accuracy levels. Experimental examples demonstrate that the proposed SVRCQGA model is superior to other competitive models.

  2. Genetic load and transgenic mitigating genes in transgenic Brassica rapa (field mustard × Brassica napus (oilseed rape hybrid populations

    Directory of Open Access Journals (Sweden)

    Warwick Suzanne I

    2009-10-01

    Full Text Available Abstract Background One theoretical explanation for the relatively poor performance of Brassica rapa (weed × Brassica napus (crop transgenic hybrids suggests that hybridization imparts a negative genetic load. Consequently, in hybrids genetic load could overshadow any benefits of fitness enhancing transgenes and become the limiting factor in transgenic hybrid persistence. Two types of genetic load were analyzed in this study: random/linkage-derived genetic load, and directly incorporated genetic load using a transgenic mitigation (TM strategy. In order to measure the effects of random genetic load, hybrid productivity (seed yield and biomass was correlated with crop- and weed-specific AFLP genomic markers. This portion of the study was designed to answer whether or not weed × transgenic crop hybrids possessing more crop genes were less competitive than hybrids containing fewer crop genes. The effects of directly incorporated genetic load (TM were analyzed through transgene persistence data. TM strategies are proposed to decrease transgene persistence if gene flow and subsequent transgene introgression to a wild host were to occur. Results In the absence of interspecific competition, transgenic weed × crop hybrids benefited from having more crop-specific alleles. There was a positive correlation between performance and number of B. napus crop-specific AFLP markers [seed yield vs. marker number (r = 0.54, P = 0.0003 and vegetative dry biomass vs. marker number (r = 0.44, P = 0.005]. However under interspecific competition with wheat or more weed-like conditions (i.e. representing a situation where hybrid plants emerge as volunteer weeds in subsequent cropping systems, there was a positive correlation between the number of B. rapa weed-specific AFLP markers and seed yield (r = 0.70, P = 0.0001, although no such correlation was detected for vegetative biomass. When genetic load was directly incorporated into the hybrid genome, by inserting a

  3. Cancer-related inflammation, the seventh hallmark of cancer: links to genetic instability.

    Science.gov (United States)

    Colotta, Francesco; Allavena, Paola; Sica, Antonio; Garlanda, Cecilia; Mantovani, Alberto

    2009-07-01

    Inflammatory conditions in selected organs increase the risk of cancer. An inflammatory component is present also in the microenvironment of tumors that are not epidemiologically related to inflammation. Recent studies have begun to unravel molecular pathways linking inflammation and cancer. In the tumor microenvironment, smoldering inflammation contributes to proliferation and survival of malignant cells, angiogenesis, metastasis, subversion of adaptive immunity, reduced response to hormones and chemotherapeutic agents. Recent data suggest that an additional mechanism involved in cancer-related inflammation (CRI) is induction of genetic instability by inflammatory mediators, leading to accumulation of random genetic alterations in cancer cells. In a seminal contribution, Hanahan and Weinberg [(2000) Cell, 100, 57-70] identified the six hallmarks of cancer. We surmise that CRI represents the seventh hallmark.

  4. Genetic Variation Linked to Lung Cancer Survival in White Smokers | Center for Cancer Research

    Science.gov (United States)

    CCR investigators have discovered evidence that links lung cancer survival with genetic variations (called single nucleotide polymorphisms) in the MBL2 gene, a key player in innate immunity. The variations in the gene, which codes for a protein called the mannose-binding lectin, occur in its promoter region, where the RNA polymerase molecule binds to start transcription, and in the first exon that is responsible for the correct structure of MBL. The findings appear in the September 19, 2007, issue of the Journal of the National Cancer Institute.

  5. Linking movement behavior and fine-scale genetic structure to model landscape connectivity for bobcats (Lynx rufus)

    Science.gov (United States)

    Dawn M. Reding; Samuel A. Cushman; Todd E. Gosselink; William R. Clark

    2013-01-01

    Spatial heterogeneity can constrain the movement of individuals and consequently genes across a landscape, influencing demographic and genetic processes. In this study, we linked information on landscape composition, movement behavior, and genetic differentiation to gain a mechanistic understanding of how spatial heterogeneity may influence movement and gene flow of...

  6. Linking social and pathogen transmission networks using microbial genetics in giraffe (Giraffa camelopardalis).

    Science.gov (United States)

    VanderWaal, Kimberly L; Atwill, Edward R; Isbell, Lynne A; McCowan, Brenda

    2014-03-01

    Although network analysis has drawn considerable attention as a promising tool for disease ecology, empirical research has been hindered by limitations in detecting the occurrence of pathogen transmission (who transmitted to whom) within social networks. Using a novel approach, we utilize the genetics of a diverse microbe, Escherichia coli, to infer where direct or indirect transmission has occurred and use these data to construct transmission networks for a wild giraffe population (Giraffe camelopardalis). Individuals were considered to be a part of the same transmission chain and were interlinked in the transmission network if they shared genetic subtypes of E. coli. By using microbial genetics to quantify who transmits to whom independently from the behavioural data on who is in contact with whom, we were able to directly investigate how the structure of contact networks influences the structure of the transmission network. To distinguish between the effects of social and environmental contact on transmission dynamics, the transmission network was compared with two separate contact networks defined from the behavioural data: a social network based on association patterns, and a spatial network based on patterns of home-range overlap among individuals. We found that links in the transmission network were more likely to occur between individuals that were strongly linked in the social network. Furthermore, individuals that had more numerous connections or that occupied 'bottleneck' positions in the social network tended to occupy similar positions in the transmission network. No similar correlations were observed between the spatial and transmission networks. This indicates that an individual's social network position is predictive of transmission network position, which has implications for identifying individuals that function as super-spreaders or transmission bottlenecks in the population. These results emphasize the importance of association patterns in

  7. From the genome to the phenome and back: linking genes with human brain function and structure using genetically informed neuroimaging

    DEFF Research Database (Denmark)

    Siebner, H R; Callicott, J H; Sommer, T

    2009-01-01

    In recent years, an array of brain mapping techniques has been successfully employed to link individual differences in circuit function or structure in the living human brain with individual variations in the human genome. Several proof-of-principle studies provided converging evidence that brain...... imaging can establish important links between genes and behaviour. The overarching goal is to use genetically informed brain imaging to pinpoint neurobiological mechanisms that contribute to behavioural intermediate phenotypes or disease states. This special issue on "Linking Genes to Brain Function...... in Health and Disease" provides an overview over how the "imaging genetics" approach is currently applied in the various fields of systems neuroscience to reveal the genetic underpinnings of complex behaviours and brain diseases. While the rapidly emerging field of imaging genetics holds great promise...

  8. Red meat consumption and risk of cardiovascular diseases-is increased iron load a possible link?

    Science.gov (United States)

    Quintana Pacheco, Daniel A; Sookthai, Disorn; Wittenbecher, Clemens; Graf, Mirja E; Schübel, Ruth; Johnson, Theron; Katzke, Verena; Jakszyn, Paula; Kaaks, Rudolf; Kühn, Tilman

    2018-01-01

    High iron load and red meat consumption could increase the risk of cardiovascular diseases (CVDs). As red meat is the main source of heme iron, which is in turn a major determinant of increased iron load, adverse cardiometabolic effects of meat consumption could be mediated by increased iron load. The object of the study was to assess whether associations between red meat consumption and CVD risk are mediated by iron load in a population-based human study. We evaluated relations between red meat consumption, iron load (plasma ferritin), and risk of CVD in the prospective EPIC-Heidelberg Study using a case-cohort sample including a random subcohort (n = 2738) and incident cases of myocardial infarction (MI, n = 555), stroke (n = 513), and CVD mortality (n = 381). Following a 4-step mediation analysis, associations between red meat consumption and iron load, red meat consumption and CVD risk, and iron load and CVD risk were assessed by multivariable regression models before finally testing to which degree associations between red meat consumption and CVD risk were attenuated by adjustment for iron status. Red meat consumption was significantly positively associated with ferritin concentrations and MI risk [HR per 50 g daily intake: 1.18 (95% CI: 1.05, 1.33)], but no significant associations with stroke risk and CVD mortality were observed. While direct associations between ferritin concentrations and MI risk as well as CVD mortality were significant in age- and sex-adjusted Cox regression models, these associations were substantially attenuated and no longer significant after multivariable adjustment for classical CVD risk factors. Strikingly, ferritin concentrations were positively associated with a majority of classical CVD risk factors (age, male sex, alcohol intake, obesity, inflammation, and lower education). Increased ferritin concentrations may be a marker of an overall unfavorable risk factor profile rather than a mediator of greater CVD risk due to meat

  9. Identification of genetic markers linked to anthracnose resistance in sorghum using association analysis.

    Science.gov (United States)

    Upadhyaya, Hari D; Wang, Yi-Hong; Sharma, Rajan; Sharma, Shivali

    2013-06-01

    Anthracnose in sorghum caused by Colletotrichum sublineolum is one of the most destructive diseases affecting sorghum production under warm and humid conditions. Markers and genes linked to resistance to the disease are important for plant breeding. Using 14,739 SNP markers, we have mapped eight loci linked to resistance in sorghum through association analysis of a sorghum mini-core collection consisting of 242 diverse accessions evaluated for anthracnose resistance for 2 years in the field. The mini-core was representative of the International Crops Research Institute for the Semi-Arid Tropics' world-wide sorghum landrace collection. Eight marker loci were associated with anthracnose resistance in both years. Except locus 8, disease resistance-related genes were found in all loci based on their physical distance from linked SNP markers. These include two NB-ARC class of R genes on chromosome 10 that were partially homologous to the rice blast resistance gene Pib, two hypersensitive response-related genes: autophagy-related protein 3 on chromosome 1 and 4 harpin-induced 1 (Hin1) homologs on chromosome 8, a RAV transcription factor that is also part of R gene pathway, an oxysterol-binding protein that functions in the non-specific host resistance, and homologs of menthone:neomenthol reductase (MNR) that catalyzes a menthone reduction to produce the antimicrobial neomenthol. These genes and markers may be developed into molecular tools for genetic improvement of anthracnose resistance in sorghum.

  10. Drought-adaptation potential in Fagus sylvatica: linking moisture availability with genetic diversity and dendrochronology.

    Directory of Open Access Journals (Sweden)

    Andrea R Pluess

    Full Text Available BACKGROUND: Microevolution is essential for species persistence especially under anticipated climate change scenarios. Species distribution projection models suggested that the dominant tree species of lowland forests in Switzerland, European beech (Fagus sylvatica L., might disappear from most areas due to expected longer dry periods. However, if genotypes at the moisture boundary of the species climatic envelope are adapted to lower moisture availability, they can serve as seed source for the continuation of beech forests under changing climates. METHODOLOGY/PRINCIPAL FINDINGS: With an AFLP genome scan approach, we studied neutral and potentially adaptive genetic variation in Fagus sylvatica in three regions containing a dry and a mesic site each (n(ind. = 241, n(markers = 517. We linked this dataset with dendrochronological growth measures and local moisture availabilities based on precipitation and soil characteristics. Genetic diversity decreased slightly at dry sites. Overall genetic differentiation was low (F(st = 0.028 and Bayesian cluster analysis grouped all populations together suggesting high (historical gene flow. The Bayesian outlier analyses indicated 13 markers with three markers differing between all dry and mesic sites and the others between the contrasting sites within individual regions. A total of 41 markers, including seven outlier loci, changed their frequency with local moisture availability. Tree height and median basal growth increments were reduced at dry sites, but marker presence/absence was not related to dendrochronological characteristics. CONCLUSION AND THEIR SIGNIFICANCE: The outlier alleles and the makers with changing frequencies in relation to moisture availability indicate microevolutionary processes occurring within short geographic distances. The general genetic similarity among sites suggests that 'preadaptive' genes can easily spread across the landscape. Yet, due to the long live span of

  11. Drought-adaptation potential in Fagus sylvatica: linking moisture availability with genetic diversity and dendrochronology.

    Science.gov (United States)

    Pluess, Andrea R; Weber, Pascale

    2012-01-01

    Microevolution is essential for species persistence especially under anticipated climate change scenarios. Species distribution projection models suggested that the dominant tree species of lowland forests in Switzerland, European beech (Fagus sylvatica L.), might disappear from most areas due to expected longer dry periods. However, if genotypes at the moisture boundary of the species climatic envelope are adapted to lower moisture availability, they can serve as seed source for the continuation of beech forests under changing climates. With an AFLP genome scan approach, we studied neutral and potentially adaptive genetic variation in Fagus sylvatica in three regions containing a dry and a mesic site each (n(ind.) = 241, n(markers) = 517). We linked this dataset with dendrochronological growth measures and local moisture availabilities based on precipitation and soil characteristics. Genetic diversity decreased slightly at dry sites. Overall genetic differentiation was low (F(st) = 0.028) and Bayesian cluster analysis grouped all populations together suggesting high (historical) gene flow. The Bayesian outlier analyses indicated 13 markers with three markers differing between all dry and mesic sites and the others between the contrasting sites within individual regions. A total of 41 markers, including seven outlier loci, changed their frequency with local moisture availability. Tree height and median basal growth increments were reduced at dry sites, but marker presence/absence was not related to dendrochronological characteristics. CONCLUSION AND THEIR SIGNIFICANCE: The outlier alleles and the makers with changing frequencies in relation to moisture availability indicate microevolutionary processes occurring within short geographic distances. The general genetic similarity among sites suggests that 'preadaptive' genes can easily spread across the landscape. Yet, due to the long live span of trees, fostering saplings originating from dry sites and

  12. Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan.

    Science.gov (United States)

    Angez, Mehar; Shaukat, Shahzad; Alam, Muhammad M; Sharif, Salmaan; Khurshid, Adnan; Zaidi, Syed Sohail Zahoor

    2012-02-22

    Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP) patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Our results emphasize that there was a persistent transmission of wild type 1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas, associated with high risk population groups which include migrants

  13. Comparison of genetic algorithm and imperialist competitive algorithms in predicting bed load transport in clean pipe.

    Science.gov (United States)

    Ebtehaj, Isa; Bonakdari, Hossein

    2014-01-01

    The existence of sediments in wastewater greatly affects the performance of the sewer and wastewater transmission systems. Increased sedimentation in wastewater collection systems causes problems such as reduced transmission capacity and early combined sewer overflow. The article reviews the performance of the genetic algorithm (GA) and imperialist competitive algorithm (ICA) in minimizing the target function (mean square error of observed and predicted Froude number). To study the impact of bed load transport parameters, using four non-dimensional groups, six different models have been presented. Moreover, the roulette wheel selection method is used to select the parents. The ICA with root mean square error (RMSE) = 0.007, mean absolute percentage error (MAPE) = 3.5% show better results than GA (RMSE = 0.007, MAPE = 5.6%) for the selected model. All six models return better results than the GA. Also, the results of these two algorithms were compared with multi-layer perceptron and existing equations.

  14. Preanalytic process linked to spuriously elevated HIV viral loads: improvement on an FDA-approved process.

    Science.gov (United States)

    Procop, Gary W; Taege, Alan J; Starkey, Colleen; Tungsiripat, Marisa; Warner, Diane; Schold, Jesse D; Yen-Lieberman, Belinda

    2017-09-01

    The processing of specimens often occurs in a central processing area within laboratories. We demonstrated that plasma centrifuged in the central laboratory but allowed to remain within the primary tube following centrifugation was associated with spuriously elevated HIV viral loads compared with recentrifugation of the plasma just prior to testing. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Pay-load Estimation of a 2 DOF Flexible Link Robot

    DEFF Research Database (Denmark)

    Poulsen, Niels Kjølstad; Ravn, Ole

    2005-01-01

    . Although the applied principle might be general in nature, the pa-per is applied to the well-known problem of identifying a pay-load of a moving flexible robot. This problem is almost impossible to solve by measurements, so an estimation technique must be applied. The presented method benefits from...

  16. Loads Bias Genetic and Signaling Switches in Synthetic and Natural Systems

    Science.gov (United States)

    Medford, June; Prasad, Ashok

    2014-01-01

    Biological protein interactions networks such as signal transduction or gene transcription networks are often treated as modular, allowing motifs to be analyzed in isolation from the rest of the network. Modularity is also a key assumption in synthetic biology, where it is similarly expected that when network motifs are combined together, they do not lose their essential characteristics. However, the interactions that a network module has with downstream elements change the dynamical equations describing the upstream module and thus may change the dynamic and static properties of the upstream circuit even without explicit feedback. In this work we analyze the behavior of a ubiquitous motif in gene transcription and signal transduction circuits: the switch. We show that adding an additional downstream component to the simple genetic toggle switch changes its dynamical properties by changing the underlying potential energy landscape, and skewing it in favor of the unloaded side, and in some situations adding loads to the genetic switch can also abrogate bistable behavior. We find that an additional positive feedback motif found in naturally occurring toggle switches could tune the potential energy landscape in a desirable manner. We also analyze autocatalytic signal transduction switches and show that a ubiquitous positive feedback switch can lose its switch-like properties when connected to a downstream load. Our analysis underscores the necessity of incorporating the effects of downstream components when understanding the physics of biochemical network motifs, and raises the question as to how these effects are managed in real biological systems. This analysis is particularly important when scaling synthetic networks to more complex organisms. PMID:24676102

  17. Linking the environmental loads to the fate of PPCPs in Beijing: Considering both the treated and untreated wastewater sources

    International Nuclear Information System (INIS)

    Wang, Bin; Dai, Guohua; Deng, Shubo; Huang, Jun; Wang, Yujue; Yu, Gang

    2015-01-01

    The environmental loads of pharmaceutical and personal care products (PPCPs) in Beijing were estimated from direct discharge of untreated wastewater and WWTP treated effluent. The annual environmental loads of 15 PPCP components ranged from 16.3 kg (propranolol) to 9.85 tons (caffeine). A fugacity model was developed to successfully estimate the PPCP pollution based on the estimated environmental load. The modeled results approximated the observed PPCP concentrations in Beijing. The untreated wastewater contributed significantly to PPCP pollution in Beijing, ranging from 46% (propranolol) to 99% (caffeine). The total environmental burden of target PPCPs ranged from 0.90 kg (propranolol) to 536 kg (caffeine). Water is the most important media for the fate of PPCPs. Monte Carlo-based concentration distributions of PPCPs are consistent with the observed results. The most important way to reduce the PPCP pollution is to both improve wastewater collection rate and adopt deep treatment technologies. - Highlights: • Annual environmental loads of PPCPs ranged from 16.3 kg to 9.85 tons in Beijing. • The environmental loads can be linked to PPCP pollution by fugacity model. • Untreated wastewater significantly contributed to PPCP pollution in Beijing. • The environmental burden of 15 PPCPs in Beijing ranged from 0.90 kg to 536 kg. • Uncertainty simulation successfully generated PPCP concentration distribution. - The environmental loads from both the treated and untreated wastewater sources contribute to PPCPs pollution in the surface water in Beijing, China

  18. Recombination in diverse maize is stable, predictable, and associated with genetic load.

    Science.gov (United States)

    Rodgers-Melnick, Eli; Bradbury, Peter J; Elshire, Robert J; Glaubitz, Jeffrey C; Acharya, Charlotte B; Mitchell, Sharon E; Li, Chunhui; Li, Yongxiang; Buckler, Edward S

    2015-03-24

    Among the fundamental evolutionary forces, recombination arguably has the largest impact on the practical work of plant breeders. Varying over 1,000-fold across the maize genome, the local meiotic recombination rate limits the resolving power of quantitative trait mapping and the precision of favorable allele introgression. The consequences of low recombination also theoretically extend to the species-wide scale by decreasing the power of selection relative to genetic drift, and thereby hindering the purging of deleterious mutations. In this study, we used genotyping-by-sequencing (GBS) to identify 136,000 recombination breakpoints at high resolution within US and Chinese maize nested association mapping populations. We find that the pattern of cross-overs is highly predictable on the broad scale, following the distribution of gene density and CpG methylation. Several large inversions also suppress recombination in distinct regions of several families. We also identify recombination hotspots ranging in size from 1 kb to 30 kb. We find these hotspots to be historically stable and, compared with similar regions with low recombination, to have strongly differentiated patterns of DNA methylation and GC content. We also provide evidence for the historical action of GC-biased gene conversion in recombination hotspots. Finally, using genomic evolutionary rate profiling (GERP) to identify putative deleterious polymorphisms, we find evidence for reduced genetic load in hotspot regions, a phenomenon that may have considerable practical importance for breeding programs worldwide.

  19. Genetic moderation of multiple pathways linking early cumulative socioeconomic adversity and young adults' cardiometabolic disease risk.

    Science.gov (United States)

    Wickrama, Kandauda A S; Lee, Tae Kyoung; O'Neal, Catherine Walker

    2018-02-01

    Recent research suggests that psychosocial resources and life stressors are mediating pathways explaining socioeconomic variation in young adults' health risks. However, less research has examined both these pathways simultaneously and their genetic moderation. A nationally representative sample of 11,030 respondents with prospective data collected over 13 years from the National Study of Adolescent to Adult Health was examined. First, the association between early cumulative socioeconomic adversity and young adults' (ages 25-34) cardiometabolic disease risk, as measured by 10 biomarkers, through psychosocial resources (educational attainment) and life stressors (accelerated transition to adulthood) was examined. Second, moderation of these pathways by the serotonin transporter linked polymorphic region gene (5-HTTLPR) was examined. There was evidence for the association between early socioeconomic adversity and young adults' cardiometabolic disease risk directly and indirectly through educational attainment and accelerated transitions. These direct and mediating pathways were amplified by the 5-HTTLPR polymorphism. These findings elucidate how early adversity can have an enduring influence on young adults' cardiometabolic disease risk directly and indirectly through psychosocial resources and life stressors and their genetic moderation. This information suggests that effective intervention and prevention programs should focus on early adversity, youth educational attainment, and their transition to young adulthood.

  20. The Genetic Link between Parkinson's Disease and the Kynurenine Pathway Is Still Missing.

    Science.gov (United States)

    Török, Nóra; Török, Rita; Szolnoki, Zoltán; Somogyvári, Ferenc; Klivényi, Péter; Vécsei, László

    2015-01-01

    Background. There is substantial evidence that the kynurenine pathway (KP) plays a role in the normal physiology of the brain and is involved in the pathology of neurodegenerative disorders such as Huntington's disease and Parkinson's disease (PD). Objective. We set out to investigate the potential roles in PD of single nucleotide polymorphisms (SNPs) from one of the key enzymes of the KP, kynurenine 3-monooxygenase (KMO). Methods. 105 unrelated, clinically definitive PD patients and 131 healthy controls were enrolled to investigate the possible effects of the different alleles of KMO. Fluorescently labeled TaqMan probes were used for allele discrimination. Results. None of the four investigated SNPs proved to be associated with PD or influenced the age at onset of the disease. Conclusions. The genetic link between the KP and PD is still missing. The investigated SNPs presumably do not appear to influence the function of KMO and probably do not contain binding sites for regulatory proteins of relevance in PD. This is the first study to assess the genetic background behind the biochemical alterations of the kynurenine pathway in PD, directing the attention to this previously unexamined field.

  1. The Genetic Link between Parkinson’s Disease and the Kynurenine Pathway Is Still Missing

    Directory of Open Access Journals (Sweden)

    Nóra Török

    2015-01-01

    Full Text Available Background. There is substantial evidence that the kynurenine pathway (KP plays a role in the normal physiology of the brain and is involved in the pathology of neurodegenerative disorders such as Huntington’s disease and Parkinson’s disease (PD. Objective. We set out to investigate the potential roles in PD of single nucleotide polymorphisms (SNPs from one of the key enzymes of the KP, kynurenine 3-monooxygenase (KMO. Methods. 105 unrelated, clinically definitive PD patients and 131 healthy controls were enrolled to investigate the possible effects of the different alleles of KMO. Fluorescently labeled TaqMan probes were used for allele discrimination. Results. None of the four investigated SNPs proved to be associated with PD or influenced the age at onset of the disease. Conclusions. The genetic link between the KP and PD is still missing. The investigated SNPs presumably do not appear to influence the function of KMO and probably do not contain binding sites for regulatory proteins of relevance in PD. This is the first study to assess the genetic background behind the biochemical alterations of the kynurenine pathway in PD, directing the attention to this previously unexamined field.

  2. Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading.

    Science.gov (United States)

    Johnstone, Daniel; Graham, Ross M; Trinder, Debbie; Delima, Roheeth D; Riveros, Carlos; Olynyk, John K; Scott, Rodney J; Moscato, Pablo; Milward, Elizabeth A

    2012-04-11

    Severe disruption of brain iron homeostasis can cause fatal neurodegenerative disease, however debate surrounds the neurologic effects of milder, more common iron loading disorders such as hereditary hemochromatosis, which is usually caused by loss-of-function polymorphisms in the HFE gene. There is evidence from both human and animal studies that HFE gene variants may affect brain function and modify risks of brain disease. To investigate how disruption of HFE influences brain transcript levels, we used microarray and real-time reverse transcription polymerase chain reaction to assess the brain transcriptome in Hfe(-/-) mice relative to wildtype AKR controls (age 10 weeks, n≥4/group). The Hfe(-/-) mouse brain showed numerous significant changes in transcript levels (pgenes relating to transcriptional regulation (FBJ osteosarcoma oncogene Fos, early growth response genes), neurotransmission (glutamate NMDA receptor Grin1, GABA receptor Gabbr1) and synaptic plasticity and memory (calcium/calmodulin-dependent protein kinase IIα Camk2a). As previously reported for dietary iron-supplemented mice, there were altered levels of transcripts for genes linked to neuronal ceroid lipofuscinosis, a disease characterized by excessive lipofuscin deposition. Labile iron is known to enhance lipofuscin generation which may accelerate brain aging. The findings provide evidence that iron loading disorders can considerably perturb levels of transcripts for genes essential for normal brain function and may help explain some of the neurologic signs and symptoms reported in hemochromatosis patients. Copyright © 2012 Elsevier B.V. All rights reserved.

  3. The genetic basis of individual differences in reward processing and the link to addictive behavior and social cognition.

    Science.gov (United States)

    Yacubian, J; Büchel, C

    2009-11-24

    Dopaminergic neurotransmission is widely recognized to be critical to the neurobiology of reward, motivation and addiction. Interestingly, social interactions and related behavior also activate the same neuronal system. Consequently, genetic variations of dopamine neurotransmission are thought influence reward processing that in turn may affect distinctive social behavior and susceptibility to addiction. This review focuses on advances made to date in an effort to link genetic individual variations and reward processing as a possible basis for addictive behaviors.

  4. Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan

    Directory of Open Access Journals (Sweden)

    Angez Mehar

    2012-02-01

    Full Text Available Abstract Background/Aim Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. Methods In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. Results One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Conclusion Our results emphasize that there was a persistent transmission of wild type1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas

  5. Predicting runoff induced mass loads in urban watersheds: Linking land use and pyrethroid contamination.

    Science.gov (United States)

    Chinen, Kazue; Lau, Sim-Lin; Nonezyan, Michael; McElroy, Elizabeth; Wolfe, Becky; Suffet, Irwin H; Stenstrom, Michael K

    2016-10-01

    Pyrethroid pesticide mass loadings in the Ballona Creek Watershed were calculated using the volume-concentration method with a Geographic Information Systems (GIS) to explore potential relationships between urban land use, impervious surfaces, and pyrethroid runoff flowing into an urban stream. A calibration of the GIS volume-concentration model was performed using 2013 and 2014 wet-weather sampling data. Permethrin and lambda-cyhalothrin were detected as the highest concentrations; deltamethrin, lambda-cyhalothrin, permethrin and cyfluthrin were the most frequently detected synthetic pyrethroids. Eight neighborhoods within the watershed were highlighted as target areas based on a Weighted Overlay Analysis (WOA) in GIS. Water phase concentration of synthetic pyrethroids (SPs) were calculated from the reported usage. The need for stricter BMP and consumer product controls was identified as a possible way of reducing the detections of pyrethroids in Ballona Creek. This model has significant implications for determining mass loadings due to land use influence, and offers a flexible method to extrapolate data for a limited amount of samplings for a larger watershed, particularly for chemicals that are not subject to environmental monitoring. Offered as a simple approach to watershed management, the GIS-volume concentration model has the potential to be applied to other target pesticides and is useful for simulating different watershed scenarios. Further research is needed to compare results against other similar urban watersheds situated in mediterranean climates. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Occlusal loading and cross-linking effects on dentin collagen degradation in physiological conditions.

    Science.gov (United States)

    Turco, Gianluca; Frassetto, Andrea; Fontanive, Luca; Mazzoni, Annalisa; Cadenaro, Milena; Di Lenarda, Roberto; Tay, Franklin R; Pashley, David H; Breschi, Lorenzo

    2016-02-01

    This study evaluated the ability of 1-ethyl-3-(3-dimethylaminopropyl)-carbodiimide hydrochloride (EDC) to improve the stability of demineralized dentin collagen matrices when subjected to mechanical cycling by means of Chewing Simulation (CS). Demineralized dentin disks were randomly assigned to four groups (N=4): (1) immersion in artificial saliva at 37°C for 30 days; (2) pre-treatment with 0.5 M EDC for 60 s, then stored as in Group 1; (3) CS challenge (50 N occlusal load, 30 s occlusal time plus 30 s with no load, for 30 days); (4) pre-treatment with 0.5 M EDC as in Group 2 and CS challenge as in Group 3. Collagen degradation was evaluated by sampling storage media for ICTP and CTX telopeptides. EDC treated specimens showed no significant telopeptides release, irrespective of the aging method. Cyclic stressing of EDC-untreated specimens caused significantly higher ICTP release at day 1, compared to static storage, while by days 3 and 4, the ICTP release in the cyclic group fell significantly below the static group, and then remained undetectable from 5 to 30 days. CTX release in the cyclic groups, on EDC-untreated control specimens was always lower than in the static group in days 1-4, and then fell to undetectable for 30 days. This study showed that chewing stresses applied to control untreated demineralized dentin increased degradation of collagen in terms of CTX release, while collagen crosslinking agents may prevent dentin collagen degradation, irrespective of simulated occlusal function. Copyright © 2015 Academy of Dental Materials. Published by Elsevier Ltd. All rights reserved.

  7. MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.

    Science.gov (United States)

    Allot, Alexis; Chennen, Kirsley; Nevers, Yannis; Poidevin, Laetitia; Kress, Arnaud; Ripp, Raymond; Thompson, Julie Dawn; Poch, Olivier; Lecompte, Odile

    2017-06-16

    The constant and massive increase of biological data offers unprecedented opportunities to decipher the function and evolution of genes and their roles in human diseases. However, the multiplicity of sources and flow of data mean that efficient access to useful information and knowledge production has become a major challenge. This challenge can be addressed by taking inspiration from Web 2.0 and particularly social networks, which are at the forefront of big data exploration and human-data interaction. MyGeneFriends is a Web platform inspired by social networks, devoted to genetic disease analysis, and organized around three types of proactive agents: genes, humans, and genetic diseases. The aim of this study was to improve exploration and exploitation of biological, postgenomic era big data. MyGeneFriends leverages conventions popularized by top social networks (Facebook, LinkedIn, etc), such as networks of friends, profile pages, friendship recommendations, affinity scores, news feeds, content recommendation, and data visualization. MyGeneFriends provides simple and intuitive interactions with data through evaluation and visualization of connections (friendships) between genes, humans, and diseases. The platform suggests new friends and publications and allows agents to follow the activity of their friends. It dynamically personalizes information depending on the user's specific interests and provides an efficient way to share information with collaborators. Furthermore, the user's behavior itself generates new information that constitutes an added value integrated in the network, which can be used to discover new connections between biological agents. We have developed MyGeneFriends, a Web platform leveraging conventions from popular social networks to redefine the relationship between humans and biological big data and improve human processing of biomedical data. MyGeneFriends is available at lbgi.fr/mygenefriends. ©Alexis Allot, Kirsley Chennen, Yannis

  8. Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity

    NARCIS (Netherlands)

    Bergen, A. A.; Platje, E. J.; Craig, I.; Bakker, E.; Bleeker-Wagemakers, E. M.; van Ommen, G. J.

    1991-01-01

    DNA diagnosis of X-linked retinitis pigmentosa (XLRP) is hampered by its genetic heterogeneity, while a clinical subdivision is almost impossible to make. So far, diagnostic services have been offered only to those families in which linkage to one RP locus (RP2 or RP3) has been clearly established.

  9. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    Science.gov (United States)

    ... Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited ...

  10. Optimization of Boiling Water Reactor Loading Pattern Using Two-Stage Genetic Algorithm

    International Nuclear Information System (INIS)

    Kobayashi, Yoko; Aiyoshi, Eitaro

    2002-01-01

    A new two-stage optimization method based on genetic algorithms (GAs) using an if-then heuristic rule was developed to generate optimized boiling water reactor (BWR) loading patterns (LPs). In the first stage, the LP is optimized using an improved GA operator. In the second stage, an exposure-dependent control rod pattern (CRP) is sought using GA with an if-then heuristic rule. The procedure of the improved GA is based on deterministic operators that consist of crossover, mutation, and selection. The handling of the encoding technique and constraint conditions by that GA reflects the peculiar characteristics of the BWR. In addition, strategies such as elitism and self-reproduction are effectively used in order to improve the search speed. The LP evaluations were performed with a three-dimensional diffusion code that coupled neutronic and thermal-hydraulic models. Strong axial heterogeneities and constraints dependent on three dimensions have always necessitated the use of three-dimensional core simulators for BWRs, so that optimization of computational efficiency is required. The proposed algorithm is demonstrated by successfully generating LPs for an actual BWR plant in two phases. One phase is only LP optimization applying the Haling technique. The other phase is an LP optimization that considers the CRP during reactor operation. In test calculations, candidates that shuffled fresh and burned fuel assemblies within a reasonable computation time were obtained

  11. Comparison between dynamic programming and genetic algorithm for hydro unit economic load dispatch

    Directory of Open Access Journals (Sweden)

    Bin Xu

    2014-10-01

    Full Text Available The hydro unit economic load dispatch (ELD is of great importance in energy conservation and emission reduction. Dynamic programming (DP and genetic algorithm (GA are two representative algorithms for solving ELD problems. The goal of this study was to examine the performance of DP and GA while they were applied to ELD. We established numerical experiments to conduct performance comparisons between DP and GA with two given schemes. The schemes included comparing the CPU time of the algorithms when they had the same solution quality, and comparing the solution quality when they had the same CPU time. The numerical experiments were applied to the Three Gorges Reservoir in China, which is equipped with 26 hydro generation units. We found the relation between the performance of algorithms and the number of units through experiments. Results show that GA is adept at searching for optimal solutions in low-dimensional cases. In some cases, such as with a number of units of less than 10, GA's performance is superior to that of a coarse-grid DP. However, GA loses its superiority in high-dimensional cases. DP is powerful in obtaining stable and high-quality solutions. Its performance can be maintained even while searching over a large solution space. Nevertheless, due to its exhaustive enumerating nature, it costs excess time in low-dimensional cases.

  12. Effect of cross-linked biodegradable polymers on sustained release of sodium diclofenac-loaded microspheres

    Directory of Open Access Journals (Sweden)

    Avik Kumar Saha

    2013-12-01

    Full Text Available The objective of this study was to formulate an oral sustained release delivery system of sodium diclofenac(DS based on sodium alginate (SA as a hydrophilic carrier in combination with chitosan (CH and sodium carboxymethyl cellulose (SCMC as drug release modifiers to overcome the drug-related adverse effects and to improve bioavailability. Microspheres of DS were prepared using an easy method of ionotropic gelation. The prepared beads were evaluated for mean particle size, entrapment efficiency, swelling capacity, erosion and in-vitro drug release. They were also subjected to various studies such as Fourier Transform Infra-Red Spectroscopy (FTIR for drug polymer compatibility, Scanning Electron Microscopy for surface morphology, X-ray Powder Diffraction Analysis (XRD and Differential Scanning Calorimetric Analysis (DSC to determine the physical state of the drug in the beads. The addition of SCMC during the preparation of polymeric beads resulted in lower drug loading and prolonged release of the DS. The release profile of batches F5 and F6 showed a maximum drug release of 96.97 ± 0.356% after 8 h, in which drug polymer ratio was decreased. The microspheres of sodium diclofenac with the polymers were formulated successfully. Analysis of the release profiles showed that the data corresponds to the diffusion-controlled mechanism as suggested by Higuchi.

  13. An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits.

    Directory of Open Access Journals (Sweden)

    Iksoo Huh

    Full Text Available Recent advances in genotyping methodologies have allowed genome-wide association studies (GWAS to accurately identify genetic variants that associate with common or pathological complex traits. Although most GWAS have focused on associations with single genetic variants, joint identification of multiple genetic variants, and how they interact, is essential for understanding the genetic architecture of complex phenotypic traits. Here, we propose an efficient stepwise method based on the Cochran-Mantel-Haenszel test (for stratified categorical data to identify causal joint multiple genetic variants in GWAS. This method combines the CMH statistic with a stepwise procedure to detect multiple genetic variants associated with specific categorical traits, using a series of associated I × J contingency tables and a null hypothesis of no phenotype association. Through a new stratification scheme based on the sum of minor allele count criteria, we make the method more feasible for GWAS data having sample sizes of several thousands. We also examine the properties of the proposed stepwise method via simulation studies, and show that the stepwise CMH test performs better than other existing methods (e.g., logistic regression and detection of associations by Markov blanket for identifying multiple genetic variants. Finally, we apply the proposed approach to two genomic sequencing datasets to detect linked genetic variants associated with bipolar disorder and obesity, respectively.

  14. Heuristic rules embedded genetic algorithm to solve VVER loading pattern optimization problem

    International Nuclear Information System (INIS)

    Fatih, Alim; Kostandi, Ivanov

    2006-01-01

    Full text: Loading Pattern (LP) optimization is one of the most important aspects of the operation of nuclear reactors. A genetic algorithm (GA) code GARCO (Genetic Algorithm Reactor Optimization Code) has been developed with embedded heuristic techniques to perform optimization calculations for in-core fuel management tasks. GARCO is a practical tool that includes a unique methodology applicable for all types of Pressurized Water Reactor (PWR) cores having different geometries with an unlimited number of FA types in the inventory. GARCO was developed by modifying the classical representation of the genotype. Both the genotype representation and the basic algorithm have been modified to incorporate the in-core fuel management heuristics rules so as to obtain the best results in a shorter time. GARCO has three modes. Mode 1 optimizes the locations of the fuel assemblies (FAs) in the nuclear reactor core, Mode 2 optimizes the placement of the burnable poisons (BPs) in a selected LP, and Mode 3 optimizes simultaneously both the LP and the BP placement in the core. This study describes the basic algorithm for Mode 1. The GARCO code is applied to the VVER-1000 reactor hexagonal geometry core in this study. The M oby-Dick i s used as reactor physics code to deplete FAs in the core. It was developed to analyze the VVER reactors by SKODA Inc. To use these rules for creating the initial population with GA operators, the worth definition application is developed. Each FA has a worth value for each location. This worth is between 0 and 1. If worth of any FA for a location is larger than 0.5, this FA in this location is a good choice. When creating the initial population of LPs, a subroutine provides a percent of individuals, which have genes with higher than the 0.5 worth. The percentage of the population to be created without using worth definition is defined in the GARCO input. And also age concept has been developed to accelerate the GA calculation process in reaching the

  15. A complex genetic basis to X-linked hybrid male sterility between two species of house mice.

    Science.gov (United States)

    Good, Jeffrey M; Dean, Matthew D; Nachman, Michael W

    2008-08-01

    The X chromosome plays a central role in the evolution of reproductive isolation, but few studies have examined the genetic basis of X-linked incompatibilities during the early stages of speciation. We report the results of a large experiment focused on the reciprocal introgression of the X chromosome between two species of house mice, Mus musculus and M. domesticus. Introgression of the M. musculus X chromosome into a wild-derived M. domesticus genetic background produced male-limited sterility, qualitatively consistent with previous experiments using classic inbred strains to represent M. domesticus. The genetic basis of sterility involved a minimum of four X-linked factors. The phenotypic effects of major sterility QTL were largely additive and resulted in complete sterility when combined. No sterility factors were uncovered on the M. domesticus X chromosome. Overall, these results revealed a complex and asymmetric genetic basis to X-linked hybrid male sterility during the early stages of speciation in mice. Combined with data from previous studies, we identify one relatively narrow interval on the M. musculus X chromosome involved in hybrid male sterility. Only a handful of spermatogenic genes are within this region, including one of the most rapidly evolving genes on the mouse X chromosome.

  16. Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.

    Science.gov (United States)

    Tarín, Juan J; García-Pérez, Miguel A; Hamatani, Toshio; Cano, Antonio

    2015-04-15

    linked with other diseases in single meta-diseases. This finding opens new insights for clinicians and reproductive biologists to treat infertility problems using a phenomic approach instead of considering infertility as an isolated and exclusive disease of the reproductive system/hypothalamic-pituitary-gonadal axis. In agreement with a previous validation analysis of the utility of DiseaseConnect web server, the present study does not show a univocal correspondence between common gene expression and clinical comorbid relationship. Further work is needed to untangle the potential genetic, epigenetic and phenotypic relationships that may be present among different infertility etiologies, morbid conditions and physical/cognitive traits.

  17. Energy Link Optimization in a Wireless Power Transfer Grid under Energy Autonomy Based on the Improved Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Zhihao Zhao

    2016-08-01

    Full Text Available In this paper, an optimization method is proposed for the energy link in a wireless power transfer grid, which is a regional smart microgrid comprised of distributed devices equipped with wireless power transfer technology in a certain area. The relevant optimization model of the energy link is established by considering the wireless power transfer characteristics and the grid characteristics brought in by the device repeaters. Then, a concentration adaptive genetic algorithm (CAGA is proposed to optimize the energy link. The algorithm avoided the unification trend by introducing the concentration mechanism and a new crossover method named forward order crossover, as well as the adaptive parameter mechanism, which are utilized together to keep the diversity of the optimization solution groups. The results show that CAGA is feasible and competitive for the energy link optimization in different situations. This proposed algorithm performs better than its counterparts in the global convergence ability and the algorithm robustness.

  18. Efficient Hybrid Genetic Based Multi Dimensional Host Load Aware Algorithm for Scheduling and Optimization of Virtual Machines

    OpenAIRE

    Thiruvenkadam, T; Karthikeyani, V

    2014-01-01

    Mapping the virtual machines to the physical machines cluster is called the VM placement. Placing the VM in the appropriate host is necessary for ensuring the effective resource utilization and minimizing the datacenter cost as well as power. Here we present an efficient hybrid genetic based host load aware algorithm for scheduling and optimization of virtual machines in a cluster of Physical hosts. We developed the algorithm based on two different methods, first initial VM packing is done by...

  19. A short-term load forecasting model of natural gas based on optimized genetic algorithm and improved BP neural network

    International Nuclear Information System (INIS)

    Yu, Feng; Xu, Xiaozhong

    2014-01-01

    Highlights: • A detailed data processing will make more accurate results prediction. • Taking a full account of more load factors to improve the prediction precision. • Improved BP network obtains higher learning convergence. • Genetic algorithm optimized by chaotic cat map enhances the global search ability. • The combined GA–BP model improved by modified additional momentum factor is superior to others. - Abstract: This paper proposes an appropriate combinational approach which is based on improved BP neural network for short-term gas load forecasting, and the network is optimized by the real-coded genetic algorithm. Firstly, several kinds of modifications are carried out on the standard neural network to accelerate the convergence speed of network, including improved additional momentum factor, improved self-adaptive learning rate and improved momentum and self-adaptive learning rate. Then, it is available to use the global search capability of optimized genetic algorithm to determine the initial weights and thresholds of BP neural network to avoid being trapped in local minima. The ability of GA is enhanced by cat chaotic mapping. In light of the characteristic of natural gas load for Shanghai, a series of data preprocessing methods are adopted and more comprehensive load factors are taken into account to improve the prediction accuracy. Such improvements facilitate forecasting efficiency and exert maximum performance of the model. As a result, the integration model improved by modified additional momentum factor gets more ideal solutions for short-term gas load forecasting, through analyses and comparisons of the above several different combinational algorithms

  20. Genetic diversity of the NE Atlantic sea urchin Strongylocentrotus droebachiensis unveils chaotic genetic patchiness possibly linked to local selective pressure.

    Science.gov (United States)

    Norderhaug, K M; Anglès d'Auriac, M B; Fagerli, C W; Gundersen, H; Christie, H; Dahl, K; Hobæk, A

    We compared the genetic differentiation in the green sea urchin Strongylocentrotus droebachiensis from discrete populations on the NE Atlantic coast. By using eight recently developed microsatellite markers, genetic structure was compared between populations from the Danish Strait in the south to the Barents Sea in the north (56-79°N). Urchins are spread by pelagic larvae and may be transported long distances by northwards-going ocean currents. Two main superimposed patterns were identified. The first showed a subtle but significant genetic differentiation from the southernmost to the northernmost of the studied populations and could be explained by an isolation by distance model. The second pattern included two coastal populations in mid-Norway (65°N), NH and NS, as well as the northernmost population of continental Norway (71°N) FV. They showed a high degree of differentiation from all other populations. The explanation to the second pattern is most likely chaotic genetic patchiness caused by introgression from another species, S. pallidus, into S. droebachiensis resulting from selective pressure. Ongoing sea urchin collapse and kelp forests recovery are observed in the area of NH, NS and FV populations. High gene flow between populations spanning more than 22° in latitude suggests a high risk of new grazing events to occur rapidly in the future if conditions for sea urchins are favourable. On the other hand, the possibility of hybridization in association with collapsing populations may be used as an early warning indicator for monitoring purposes.

  1. Linking the planktonic and benthic habitat: genetic structure of the marine diatom Skeletonema marinoi.

    Science.gov (United States)

    Godhe, Anna; Härnström, Karolina

    2010-10-01

    Dormant life stages are important strategies for many aquatic organisms. The formation of resting stages will provide a refuge from unfavourable conditions in the water column, and their successive accumulation in the benthos will constitute a genetic reservoir for future planktonic populations. We have determined the genetic structure of a common bloom-forming diatom, Skeletonema marinoi, in the sediment and the plankton during spring, summer and autumn two subsequent years (2007-2009) in Gullmar Fjord on the Swedish west coast. Eight polymorphic microsatellite loci were used to assess the level of genetic differentiation and the respective gene diversity of the two different habitats. We also determined the degree of genetic differentiation between the seed banks inside the fjord and the open sea. The results indicate that Gullmar Fjord has one dominant endogenous population of S. marinoi, which is genetically differentiated from the open sea population. The fjord population is encountered in the plankton and in the sediment. Shifts from the dominant population can happen, and in our study, two genetically differentiated plankton populations, displaying reduced genetic diversity, occurred in September 2007 and 2008. Based on our results, we suggest that sill fjords maintain local long-lived and well-adapted protist populations, which continuously shift between the planktonic and benthic habitats. Intermittently, short-lived and mainly asexually reproducing populations can replace the dominant population in the water column, without influencing the genetic structure of the benthic seed bank. © 2010 Blackwell Publishing Ltd.

  2. Is there a causal link between knee loading and knee osteoarthritis progression? A systematic review and meta-analysis of cohort studies and randomised trials

    Science.gov (United States)

    Henriksen, Marius; Creaby, Mark W; Lund, Hans; Juhl, Carsten; Christensen, Robin

    2014-01-01

    Objective We performed a systematic review, meta-analysis and assessed the evidence supporting a causal link between knee joint loading during walking and structural knee osteoarthritis (OA) progression. Design Systematic review, meta-analysis and application of Bradford Hill's considerations on causation. Data sources We searched MEDLINE, Scopus, AMED, CINAHL and SportsDiscus for prospective cohort studies and randomised controlled trials (RCTs) from 1950 through October 2013. Study eligibility criteria We selected cohort studies and RCTs in which estimates of knee joint loading during walking were used to predict structural knee OA progression assessed by X-ray or MRI. Data analyses Meta-analysis was performed to estimate the combined OR for structural disease progression with higher baseline loading. The likelihood of a causal link between knee joint loading and OA progression was assessed from cohort studies using the Bradford Hill guidelines to derive a 0–4 causation score based on four criteria and examined for confirmation in RCTs. Results Of the 1078 potentially eligible articles, 5 prospective cohort studies were included. The studies included a total of 452 patients relating joint loading to disease progression over 12–72 months. There were very serious limitations associated with the methodological quality of the included studies. The combined OR for disease progression was 1.90 (95% CI 0.85 to 4.25; I2=77%) for each one-unit increment in baseline knee loading. The combined causation score was 0, indicating no causal association between knee loading and knee OA progression. No RCTs were found to confirm or refute the findings from the cohort studies. Conclusions There is very limited and low-quality evidence to support for a causal link between knee joint loading during walking and structural progression of knee OA. Trial registration number CRD42012003253 PMID:25031196

  3. Not the time or the place: the missing spatio-temporal link in publicly available genetic data.

    Science.gov (United States)

    Pope, Lisa C; Liggins, Libby; Keyse, Jude; Carvalho, Silvia B; Riginos, Cynthia

    2015-08-01

    Genetic data are being generated at unprecedented rates. Policies of many journals, institutions and funding bodies aim to ensure that these data are publicly archived so that published results are reproducible. Additionally, publicly archived data can be 'repurposed' to address new questions in the future. In 2011, along with other leading journals in ecology and evolution, Molecular Ecology implemented mandatory public data archiving (the Joint Data Archiving Policy). To evaluate the effect of this policy, we assessed the genetic, spatial and temporal data archived for 419 data sets from 289 articles in Molecular Ecology from 2009 to 2013. We then determined whether archived data could be used to reproduce analyses as presented in the manuscript. We found that the journal's mandatory archiving policy has had a substantial positive impact, increasing genetic data archiving from 49 (pre-2011) to 98% (2011-present). However, 31% of publicly archived genetic data sets could not be recreated based on information supplied in either the manuscript or public archives, with incomplete data or inconsistent codes linking genetic data and metadata as the primary reasons. While the majority of articles did provide some geographic information, 40% did not provide this information as geographic coordinates. Furthermore, a large proportion of articles did not contain any information regarding date of sampling (40%). Although the inclusion of spatio-temporal data does require an increase in effort, we argue that the enduring value of publicly accessible genetic data to the molecular ecology field is greatly compromised when such metadata are not archived alongside genetic data. © 2015 John Wiley & Sons Ltd.

  4. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

    Science.gov (United States)

    Lattante, Serena; Ciura, Sorana; Rouleau, Guy A; Kabashi, Edor

    2015-05-01

    Several genetic causes have been recently described for neurological diseases, increasing our knowledge of the common pathological mechanisms involved in these disorders. Mutation analysis has shown common causative factors for two major neurodegenerative disorders, ALS and FTD. Shared pathological and genetic markers as well as common neurological signs between these diseases have given rise to the notion of an ALS/FTD spectrum. This overlap among genetic factors causing ALS/FTD and the coincidence of mutated alleles (including causative, risk and modifier variants) have given rise to the notion of an oligogenic model of disease. In this review we summarize major advances in the elucidation of novel genetic factors in these diseases which have led to a better understanding of the common pathogenic factors leading to neurodegeneration. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Genetic studies and a search for molecular markers that are linked ...

    African Journals Online (AJOL)

    SERVER

    Instead, linkage analysis resulted in the construction of a molecular marker linkage map consisting of 45 ..... This limits the application of this marker type, particularly in ... primer design when one uses RAPDs. .... Concepts of Genetics. Fourth.

  6. Effect of cross-linking on properties and release characteristics of sodium salicylate-loaded electrospun poly(vinyl alcohol) fibre mats

    International Nuclear Information System (INIS)

    Taepaiboon, Pattama; Rungsardthong, Uracha; Supaphol, Pitt

    2007-01-01

    Cross-linking of electrospun (e-spun) fibre mats (beaded fibre morphology with the average diameter of the fibre segments between beads being ∼108 nm) of poly(vinyl alcohol) (PVA) containing sodium salicylate (SS), used as the model drug, was achieved by exposing the fibre mats to the vapour from 5.6 M aqueous solution of either glutaraldehyde or glyoxal for various exposure time intervals, followed by a heat treatment in a vacuum oven. With increasing the exposure time in the cross-linking chamber, the morphology of the e-spun fibre mats gradually changed from a porous to dense structure. Both the degree of swelling and the percentage of weight loss of the cross-linked fibre mats (i.e. ∼200-530% and ∼15-57%, respectively) were lower than those of the untreated ones (i.e. ∼610% and ∼67%, respectively). Cross-linking was also responsible for the monotonic increase in the storage moduli of the cross-linked SS-loaded e-spun PVA fibre mats with increasing exposure time in the cross-linking chamber. The release characteristic of the model drug from the SS-loaded e-spun PVA fibre mats both before and after cross-linking was assessed by the transdermal diffusion through a pig skin method. The cumulative release of the drug from these matrices could be divided into two stages: 0-4 and 4-72 h, in which the amount of SS released in the first stage increased very rapidly, while it was much slower in the second stage. Cross-linking slowed down the release of SS from the drug-loaded fibre mats appreciably and both the rate of release and the total amount of the drug released were decreasing functions of the exposure time interval in the cross-linking chamber. Lastly, the cross-linked SS-loaded e-spun PVA fibre mats were non-toxic to normal human dermal fibroblasts

  7. [Hypothetical link between endometriosis and xenobiotics-associated genetically modified food].

    Science.gov (United States)

    Aris, A; Paris, K

    2010-12-01

    Endometriosis is an oestrogen-dependent inflammatory disease affecting 10 % of reproductive-aged women. Often accompanied by chronic pelvic pain and infertility, endometriosis rigorously interferes with women's quality of life. Although the pathophysiology of endometriosis remains unclear, a growing body of evidence points to the implication of environmental toxicants. Over the last decade, an increase in the incidence of endometriosis has been reported and coincides with the introduction of genetically modified foods in our diet. Even though assessments of genetically modified food risk have not indicated any hazard on human health, xenobiotics-associated genetically modified food, such as pesticides residues and xenoproteins, could be harmful in the long-term. The "low-dose hypothesis", accumulation and biotransformation of pesticides-associated genetically modified food and the multiplied toxicity of pesticides-formulation adjuvants support this hypothesis. This review summarizes toxic effects (in vitro and on animal models) of some xenobiotics-associated genetically modified food, such as glyphosate and Cry1Ab protein, and extrapolates on their potential role in the pathophysiology of endometriosis. Their roles as immune toxicants, pro-oxidants, endocrine disruptors and epigenetic modulators are discussed. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  8. Linking individual migratory behaviour of Atlantic salmon to their genetic origin

    DEFF Research Database (Denmark)

    Jepsen, Niels; Eg Nielsen, Einar; Deacon, M.

    2005-01-01

    (Salmo salar) in a Danish lowland river. The river has a small population of native salmon, but salmon juveniles from Irish, Scottish and Swedish populations have been stocked and return as adults. A total of 39 salmon were caught by electrofishing and tagged by surgical implantation. A tissue sample......Many stocks of fish consist of mixtures of individuals originating from different populations. This is particularly true for many salmon and trout stocks, where fish of different genetic background are being found in the same rivers and/or lakes due to stocking activities or straying caused...... by increased aquaculture activities. The interpretation of results from studies of survival and behaviour of fish from such “mixed stocks” require information of the genetic background of individual fish. We used genetic analysis combined with radiotelemetry to study upstream migration of Atlantic salmon...

  9. A UV-Induced Genetic Network Links the RSC Complex to Nucleotide Excision Repair and Shows Dose-Dependent Rewiring

    Directory of Open Access Journals (Sweden)

    Rohith Srivas

    2013-12-01

    Full Text Available Efficient repair of UV-induced DNA damage requires the precise coordination of nucleotide excision repair (NER with numerous other biological processes. To map this crosstalk, we generated a differential genetic interaction map centered on quantitative growth measurements of >45,000 double mutants before and after different doses of UV radiation. Integration of genetic data with physical interaction networks identified a global map of 89 UV-induced functional interactions among 62 protein complexes, including a number of links between the RSC complex and several NER factors. We show that RSC is recruited to both silenced and transcribed loci following UV damage where it facilitates efficient repair by promoting nucleosome remodeling. Finally, a comparison of the response to high versus low levels of UV shows that the degree of genetic rewiring correlates with dose of UV and reveals a network of dose-specific interactions. This study makes available a large resource of UV-induced interactions, and it illustrates a methodology for identifying dose-dependent interactions based on quantitative shifts in genetic networks.

  10. Matrilineal Heritage in Southern Iberia Reveals Deep Genetic Links between Continents.

    Science.gov (United States)

    Hernández, Candela L; Calderón, Rosario

    2017-03-01

    Within the Mediterranean Basin, the Iberian Peninsula has been a focus of attraction for several cultures and civilizations from its prehistory and history, making it a target territory for studying human migration patterns and peopling processes using a wide and heterogeneous spectrum of genomic markers. While its Cantabrian fringe represents the most regularly analysed area in terms of its mitochondrial diversity, the absence of monographic surveys on the maternal genetic composition of southern Iberians (i.e., Andalusians) is striking. In this work, we present a comprehensive view of various aspects of the human maternal heritage of the autochthonous Andalusian population regarding specific mitochondrial haplogroups considered key candidates to determine the genetic relationship between Europe and Africa. Data reveal that southern Iberian populations do not have genetically homogeneous mitochondrial DNA profiles, and their observed genetic affinity with north-western African populations represents strong signals of old, sustained and bidirectional human movements between the northern and southern shores of the western Mediterranean. Thorough analyses of African mtDNA haplogroups have shown that the most relevant African contribution within Iberian Peninsula could be explained as a consequence of prehistoric events. The subsequent historic episodes helped to strengthen the ties between both shores. In southern Iberia, mitochondrial and other genetic markers show that the Strait of Gibraltar together with its surrounding maritime areas should be considered a bridge between continents. More broadly, the Mediterranean Sea has acted as a transport surface, that is, as a permeable barrier to human migrations from prehistoric and historic times. In conclusion, this research contributes to our knowledge of processes that have shaped the recent human genetic history in the Mediterranean and, more specifically, of the population dynamics that the inhabitants of southern

  11. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

    DEFF Research Database (Denmark)

    Horikoshi, Momoko; Yaghootkar, Hanieh; Mook-Kanamori, Dennis O

    2013-01-01

    -wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between...... diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome......Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2...

  12. Developing cross entropy genetic algorithm for solving Two-Dimensional Loading Heterogeneous Fleet Vehicle Routing Problem (2L-HFVRP)

    Science.gov (United States)

    Paramestha, D. L.; Santosa, B.

    2018-04-01

    Two-dimensional Loading Heterogeneous Fleet Vehicle Routing Problem (2L-HFVRP) is a combination of Heterogeneous Fleet VRP and a packing problem well-known as Two-Dimensional Bin Packing Problem (BPP). 2L-HFVRP is a Heterogeneous Fleet VRP in which these costumer demands are formed by a set of two-dimensional rectangular weighted item. These demands must be served by a heterogeneous fleet of vehicles with a fix and variable cost from the depot. The objective function 2L-HFVRP is to minimize the total transportation cost. All formed routes must be consistent with the capacity and loading process of the vehicle. Sequential and unrestricted scenarios are considered in this paper. We propose a metaheuristic which is a combination of the Genetic Algorithm (GA) and the Cross Entropy (CE) named Cross Entropy Genetic Algorithm (CEGA) to solve the 2L-HFVRP. The mutation concept on GA is used to speed up the algorithm CE to find the optimal solution. The mutation mechanism was based on local improvement (2-opt, 1-1 Exchange, and 1-0 Exchange). The probability transition matrix mechanism on CE is used to avoid getting stuck in the local optimum. The effectiveness of CEGA was tested on benchmark instance based 2L-HFVRP. The result of experiments shows a competitive result compared with the other algorithm.

  13. Innovation of genetic algorithm code GenA for WWER fuel loading optimization

    International Nuclear Information System (INIS)

    Sustek, J.

    2005-01-01

    One of the stochastic search techniques - genetic algorithms - was recently used for optimization of arrangement of fuel assemblies (FA) in core of reactors WWER-440 and WWER-1000. Basic algorithm was modified by incorporation of SPEA scheme. Both were enhanced and some results are presented (Authors)

  14. Genetic studies and a search for molecular markers that are linked ...

    African Journals Online (AJOL)

    Molecular markers that are linked to witchweed resistance can expedite the development of resistant cultivars through adoption of appropriate markerassisted selection (MAS) strategies. The objectives of this investigation were to study the inheritance or low germination stimulant (lgs) production in cultivar SAR 29 and to ...

  15. Load balancing prediction method of cloud storage based on analytic hierarchy process and hybrid hierarchical genetic algorithm.

    Science.gov (United States)

    Zhou, Xiuze; Lin, Fan; Yang, Lvqing; Nie, Jing; Tan, Qian; Zeng, Wenhua; Zhang, Nian

    2016-01-01

    With the continuous expansion of the cloud computing platform scale and rapid growth of users and applications, how to efficiently use system resources to improve the overall performance of cloud computing has become a crucial issue. To address this issue, this paper proposes a method that uses an analytic hierarchy process group decision (AHPGD) to evaluate the load state of server nodes. Training was carried out by using a hybrid hierarchical genetic algorithm (HHGA) for optimizing a radial basis function neural network (RBFNN). The AHPGD makes the aggregative indicator of virtual machines in cloud, and become input parameters of predicted RBFNN. Also, this paper proposes a new dynamic load balancing scheduling algorithm combined with a weighted round-robin algorithm, which uses the predictive periodical load value of nodes based on AHPPGD and RBFNN optimized by HHGA, then calculates the corresponding weight values of nodes and makes constant updates. Meanwhile, it keeps the advantages and avoids the shortcomings of static weighted round-robin algorithm.

  16. Immunopathophysiology of inflammatory bowel disease: how genetics link barrier dysfunction and innate immunity to inflammation.

    Science.gov (United States)

    Mehta, Minesh; Ahmed, Shifat; Dryden, Gerald

    2017-08-01

    Inflammatory bowel diseases (IBD) comprise a distinct set of clinical symptoms resulting from chronic or relapsing immune activation and corresponding inflammation within the gastrointestinal (GI) tract. Diverse genetic mutations, encoding important aspects of innate immunity and mucosal homeostasis, combine with environmental triggers to create inappropriate, sustained inflammatory responses. Recently, significant advances have been made in understanding the interplay of the intestinal epithelium, mucosal immune system, and commensal bacteria as a foundation of the pathogenesis of inflammatory bowel disease. Complex interactions between specialized intestinal epithelial cells and mucosal immune cells determine different outcomes based on the environmental input: the development of tolerance in the presence of commensal bacterial or the promotion of inflammation upon recognition of pathogenic organisms. This article reviews key genetic abnormalities involved in inflammatory and homeostatic pathways that enhance susceptibility to immune dysregulation and combine with environmental triggers to trigger the development of chronic intestinal inflammation and IBD.

  17. Exploring the genetics underlying autoimmune diseases with network analysis and link prediction

    KAUST Repository

    Alanis Lobato, Gregorio; Cannistraci, Carlo; Ravasi, Timothy

    2014-01-01

    Ever since the first Genome Wide Association Study (GWAS) was carried out we have seen an important number of discoveries of biological and clinical relevance. However, there are some scientists that consider that these research outcomes and their utility are far from what was expected from this experimental design. We instead believe that the thousands of genetic variants associated with complex disorders by means of GWASs are an extremely valuable source of information that needs to be mined in a different way. Based on this philosophy, we followed a holistic perspective to analyze GWAS data and explored the structural properties of the network representation of one of these datasets with the aim to advance our understanding of the genetic intricacies underlying autoimmune human diseases. The simplicity, computational efficiency and precision of the tools proposed in this paper represent a new means to address GWAS data and contribute to the better exploitation of these rich sources of information. © 2014 IEEE.

  18. Exploring the genetics underlying autoimmune diseases with network analysis and link prediction

    KAUST Repository

    Alanis Lobato, Gregorio

    2014-02-01

    Ever since the first Genome Wide Association Study (GWAS) was carried out we have seen an important number of discoveries of biological and clinical relevance. However, there are some scientists that consider that these research outcomes and their utility are far from what was expected from this experimental design. We instead believe that the thousands of genetic variants associated with complex disorders by means of GWASs are an extremely valuable source of information that needs to be mined in a different way. Based on this philosophy, we followed a holistic perspective to analyze GWAS data and explored the structural properties of the network representation of one of these datasets with the aim to advance our understanding of the genetic intricacies underlying autoimmune human diseases. The simplicity, computational efficiency and precision of the tools proposed in this paper represent a new means to address GWAS data and contribute to the better exploitation of these rich sources of information. © 2014 IEEE.

  19. Genetic link between family socioeconomic status and children's educational achievement estimated from genome-wide SNPs.

    Science.gov (United States)

    Krapohl, E; Plomin, R

    2016-03-01

    One of the best predictors of children's educational achievement is their family's socioeconomic status (SES), but the degree to which this association is genetically mediated remains unclear. For 3000 UK-representative unrelated children we found that genome-wide single-nucleotide polymorphisms could explain a third of the variance of scores on an age-16 UK national examination of educational achievement and half of the correlation between their scores and family SES. Moreover, genome-wide polygenic scores based on a previously published genome-wide association meta-analysis of total number of years in education accounted for ~3.0% variance in educational achievement and ~2.5% in family SES. This study provides the first molecular evidence for substantial genetic influence on differences in children's educational achievement and its association with family SES.

  20. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

    Science.gov (United States)

    Firouzabadi, Negar; Ghazanfari, Nima; Alavi Shoushtari, Ali; Erfani, Nasrallah; Fathi, Farshid; Bazrafkan, Mozhdeh; Bahramali, Ehsan

    2016-01-01

    Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS) elements in cognition and behavior besides the interaction of angiotensin II (Ang II), the main product of angiotensin-converting enzyme (ACE), with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism. Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively). Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67). Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008). Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  1. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Negar Firouzabadi

    Full Text Available Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS elements in cognition and behavior besides the interaction of angiotensin II (Ang II, the main product of angiotensin-converting enzyme (ACE, with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism.Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291 with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR and PCR-restriction fragment length polymorphism (PCR-RFLP methods.There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively. Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67. Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008.Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  2. Nutrigenetics: links between genetic background and response to Mediterranean-type diets.

    Science.gov (United States)

    Lairon, Denis; Defoort, Catherine; Martin, Jean-Charles; Amiot-Carlin, Marie-Jo; Gastaldi, Marguerite; Planells, Richard

    2009-09-01

    It has been substantiated that the onset of most major diseases (CVD, diabetes, obesity, cancers, etc.) is modulated by the interaction between genetic traits (susceptibility) and environmental factors, especially diet. We aim to report more specific observations relating the effects of Mediterranean-type diets on cardiovascular risk factors and the genetic background of subjects. In the first part, general concepts about nutrigenetics are briefly presented. Human genome has, overall, only marginally changed since its origin but it is thought that minor changes (polymorphisms) of common genes that occurred during evolution are now widespread in human populations, and can alter metabolic pathways and response to diets. In the second part, we report the data obtained during the Medi-RIVAGE intervention study performed in the South-East of France. Data obtained in 169 subjects at moderate cardiovascular risk after a 3-month dietary intervention indicate that some of the twenty-three single nucleotide polymorphisms (SNP) studied exhibit interactions with diets regarding changes of particular parameters after 3-month regimens. Detailed examples are presented, such as interactions between SNP in genes coding for microsomial transfer protein (MTTP) or intestinal fatty acid binding protein (FABP2) and triglyceride, LDL-cholesterol or Framigham score lowering in responses to Mediterranean-type diets. The data provided add further evidence of the interaction between particular SNP and metabolic responses to diets. Finally, improvement in dietary recommendations by taking into account known genetic variability has been discussed.

  3. Genetic and biochemical analysis reveals linked QTLs determining natural variation for fruit post-harvest water loss in pepper (Capsicum).

    Science.gov (United States)

    Popovsky-Sarid, Sigal; Borovsky, Yelena; Faigenboim, Adi; Parsons, Eugene P; Lohrey, Gregory T; Alkalai-Tuvia, Sharon; Fallik, Elazar; Jenks, Matthew A; Paran, Ilan

    2017-02-01

    Molecular markers linked to QTLs controlling post-harvest fruit water loss in pepper may be utilized to accelerate breeding for improved shelf life and inhibit over-ripening before harvest. Bell pepper (Capsicum annuum L.) is an important vegetable crop world-wide. However, marketing is limited by the relatively short shelf life of the fruit due to water loss and decay that occur during prolonged storage. Towards breeding pepper with reduced fruit post-harvest water loss (PWL), we studied the genetic, physiological and biochemical basis for natural variation of PWL. We performed quantitative trait locus (QTL) mapping of fruit PWL in multiple generations of an interspecific cross of pepper, which resulted in the identification of two linked QTLs on chromosome 10 that control the trait. We further developed near-isogenic lines (NILs) for characterization of the QTL effects. Transcriptome analysis of the NILs allowed the identification of candidate genes associated with fruit PWL-associated traits such as cuticle biosynthesis, cell wall metabolism and fruit ripening. Significant differences in PWL between the NILs in the immature fruit stage, differentially expressed cuticle-associated genes and differences in the content of specific chemical constituents of the fruit cuticle, indicated a likely influence of cuticle composition on the trait. Reduced PWL in the NILs was associated with delayed over-ripening before harvest, low total soluble solids before storage, and reduced fruit softening after storage. Our study enabled a better understanding of the genetic and biological processes controlling natural variation in fruit PWL in pepper. Furthermore, the genetic materials and molecular markers developed in this study may be utilized to breed peppers with improved shelf life and inhibited over-ripening before harvest.

  4. Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus.

    Science.gov (United States)

    Favor, J; Pretsch, W

    1990-01-01

    Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

  5. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Directory of Open Access Journals (Sweden)

    Adama Sanou

    2014-10-01

    Full Text Available In sub-Saharan Africa, bovine tuberculosis (bTB is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations.Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5 or humans (1 or from both (1. Moreover, these data (genetic analyses and phenetic tree showed that the M. bovis isolates belonged to the African 1 (Af1 clonal complex (81.8% and the putative African 5 (Af5 clonal complex (18.2%, in agreement with the results of RDAf1 deletion typing.This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  6. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Science.gov (United States)

    Sanou, Adama; Tarnagda, Zekiba; Kanyala, Estelle; Zingué, Dezemon; Nouctara, Moumini; Ganamé, Zakaria; Combary, Adjima; Hien, Hervé; Dembele, Mathurin; Kabore, Antoinette; Meda, Nicolas; Van de Perre, Philippe; Neveu, Dorine; Bañuls, Anne Laure; Godreuil, Sylvain

    2014-10-01

    In sub-Saharan Africa, bovine tuberculosis (bTB) is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations. Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5) or humans (1) or from both (1). Moreover, these data (genetic analyses and phenetic tree) showed that the M. bovis isolates belonged to the African 1 (Af1) clonal complex (81.8%) and the putative African 5 (Af5) clonal complex (18.2%), in agreement with the results of RDAf1 deletion typing. This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  7. Genetic and environmental links between cognitive and physical functions in old age

    DEFF Research Database (Denmark)

    Johnson, Wendy; Deary, Ian J; McGue, Matt

    2009-01-01

    of twins from the Longitudinal Study of Aging Danish Twins. Cognitive function was measured using forward and backward digit span, immediate and delayed memory, and fluency tasks. Physical function was measured using self-report of ability to carry out physical activities including walking, running......In old age, cognitive and physical functions are correlated. Knowing the correlations between genetic and environmental influences underlying this correlation can help to clarify the reasons for the observable (phenotypic) correlation. We estimated these correlations in a sample of 1,053 pairs...

  8. Genetic Ancestry and Susceptibility to Late-Onset Alzheimer Disease (LOAD) in the Admixed Colombian Population.

    Science.gov (United States)

    Moreno, Diana J; Pino, Sebastián; Ríos, Ángela; Lopera, Francisco; Ostos, Henry; Via, Marc; Bedoya, Gabriel

    2017-01-01

    Differences in the prevalence of dementia among populations and in the effect of apolipoprotein E (APOE) on the emergence of Alzheimer disease (AD), which is the main type of dementia, have been reported. This study estimated the ancestry of a group of individuals with late-onset Alzheimer disease (LOAD) (N=280) and established whether there were any differences when compared with a control group (N=357) in a sample of the Colombian population. When the analyses were adjusted for known risk factors such as age, sex, presence of APOE[Latin Small Letter Open E]4, socioeconomic status, educational attainment, and place of birth, African ancestry was associated with an increased LOAD risk (odds ratio: 1.55; 95% confidence interval, 1.09-2.03; P=0.029), whereas Native American ancestry was associated with lower risk (odds ratio: 0.75; 95% confidence interval, 0.61-0.98; P=0.046), for every 10% increase in ancestry. In addition, there were significant differences in the proportion of Native American ancestry between carriers and noncarriers of the APOE[Latin Small Letter Open E]4 allele (Mann-Whitney U test, P=0.047), with noncarriers having higher mean Native American ancestry when compared with carriers. Our results are consistent with the presence of variants of African origin in the genome of the Colombian population and different from APOE[Latin Small Letter Open E]4 that represents a risk factor for the development of LOAD, whereas variants of Native American origin may be conferring protection. However, unknown environmental factors or epigenetic differences among continental groups could also explain the observed associations.

  9. Robust PD Sway Control of a Lifted Load for a Crane Using a Genetic Algorithm

    Science.gov (United States)

    Kawada, Kazuo; Sogo, Hiroyuki; Yamamoto, Toru; Mada, Yasuhiro

    PID control schemes still continue to be widely used for most industrial control systems. This is mainly because PID controllers have simple control structures, and are simple to maintain and tune. However, it is difficult to find a set of suitable control parameters in the case of time-varying and/or nonlinear systems. For such a problem, the robust controller has been proposed.Although it is important to choose the suitable nominal model in designing the robust controller, it is not usually easy.In this paper, a new robust PD controller design scheme is proposed, which utilizes a genetic algorithm.

  10. Characterization, genetic diversity, and evolutionary link of Cucumber mosaic virus strain New Delhi from India.

    Science.gov (United States)

    Koundal, Vikas; Haq, Qazi Mohd Rizwanul; Praveen, Shelly

    2011-02-01

    The genome of Cucumber mosaic virus New Delhi strain (CMV-ND) from India, obtained from tomato, was completely sequenced and compared with full genome sequences of 14 known CMV strains from subgroups I and II, for their genetic diversity. Sequence analysis suggests CMV-ND shares maximum sequence identity at the nucleotide level with a CMV strain from Taiwan. Among all 15 strains of CMV, the encoded protein 2b is least conserved, whereas the coat protein (CP) is most conserved. Sequence identity values and phylogram results indicate that CMV-ND belongs to subgroup I. Based on the recombination detection program result, it appears that CMV is prone to recombination, and different RNA components of CMV-ND have evolved differently. Recombinational analysis of all 15 CMV strains detected maximum recombination breakpoints in RNA2; CP showed the least recombination sites.

  11. Physiologic and genetic evidence links hemopexin to triglycerides in mice and humans.

    Science.gov (United States)

    Lawson, H A; Zayed, M; Wayhart, J P; Fabbrini, E; Love-Gregory, L; Klein, S; Semenkovich, C F

    2017-04-01

    Elevated triglycerides predict insulin resistance and vascular disease in obesity, but how the inert triglyceride molecule is related to development of metabolic disease is unknown. To pursue novel potential mediators of triglyceride-associated metabolic disease, we used a forward genetics approach involving inbred mice and translated our findings to human subjects. Hemopexin (HPX) was identified as a differentially expressed gene within a quantitative trait locus associated with serum triglycerides in an F 16 advanced intercross between the LG/J and SM/J strains of mice. Hpx expression was evaluated in both the reproductive fat pads and livers of mice representing three strains, LG/J (n=25), SM/J (n=27) and C57Bl/6J (n=19), on high- and low-fat diets. The effect of altered Hpx expression on adipogenesis was studied in 3T3-L1 cells. Circulating HPX protein along with HPX expression were characterized in subcutaneous white adipose tissue samples obtained from a cohort of metabolically abnormal (n=18) and of metabolically normal (n=24) obese human subjects. We further examined the relationship between HPX and triglycerides in human atherosclerotic plaques (n=18). HPX expression in mouse adipose tissue, but not in liver, was regulated by dietary fat regardless of genetic background. HPX increased in concert with adipogenesis in 3T3-L1 cells, and disruption of its expression impaired adipocyte differentiation. RNAseq data from the adipose tissue of obese humans showed differential expression of HPX based on metabolic disease status (Ptriglycerides in these subjects (r=0.33; P=0.03). HPX was also found in an unbiased proteomic screen of human atherosclerotic plaques and shown to display differential abundance based on the extent of disease and triglyceride content (Ptriglycerides and provide a framework for understanding mechanisms underlying lipid metabolism and metabolic disease.

  12. Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load

    Science.gov (United States)

    Coulonges, Cedric; Bartha, István; Lenz, Tobias L.; Deutsch, Aaron J.; Bashirova, Arman; Buchbinder, Susan; Carrington, Mary N.; Cossarizza, Andrea; Dalmau, Judith; De Luca, Andrea; Goedert, James J.; Gurdasani, Deepti; Haas, David W.; Herbeck, Joshua T.; Johnson, Eric O.; Kirk, Gregory D.; Lambotte, Olivier; Luo, Ma; Mallal, Simon; van Manen, Daniëlle; Martinez-Picado, Javier; Meyer, Laurence; Miro, José M.; Mullins, James I.; Obel, Niels; Poli, Guido; Sandhu, Manjinder S.; Schuitemaker, Hanneke; Shea, Patrick R.; Theodorou, Ioannis; Walker, Bruce D.; Weintrob, Amy C.; Winkler, Cheryl A.; Wolinsky, Steven M.; Raychaudhuri, Soumya; Goldstein, David B.; Telenti, Amalio; de Bakker, Paul I. W.; Zagury, Jean-François; Fellay, Jacques

    2015-01-01

    Previous genome-wide association studies (GWAS) of HIV-1–infected populations have been underpowered to detect common variants with moderate impact on disease outcome and have not assessed the phenotypic variance explained by genome-wide additive effects. By combining the majority of available genome-wide genotyping data in HIV-infected populations, we tested for association between ∼8 million variants and viral load (HIV RNA copies per milliliter of plasma) in 6,315 individuals of European ancestry. The strongest signal of association was observed in the HLA class I region that was fully explained by independent effects mapping to five variable amino acid positions in the peptide binding grooves of the HLA-B and HLA-A proteins. We observed a second genome-wide significant association signal in the chemokine (C-C motif) receptor (CCR) gene cluster on chromosome 3. Conditional analysis showed that this signal could not be fully attributed to the known protective CCR5Δ32 allele and the risk P1 haplotype, suggesting further causal variants in this region. Heritability analysis demonstrated that common human genetic variation—mostly in the HLA and CCR5 regions—explains 25% of the variability in viral load. This study suggests that analyses in non-European populations and of variant classes not assessed by GWAS should be priorities for the field going forward. PMID:26553974

  13. Warfarin resistance associated with genetic polymorphism of VKORC1: linking clinical response to molecular mechanism using computational modeling.

    Science.gov (United States)

    Lewis, Benjamin C; Nair, Pramod C; Heran, Subash S; Somogyi, Andrew A; Bowden, Jeffrey J; Doogue, Matthew P; Miners, John O

    2016-01-01

    The variable response to warfarin treatment often has a genetic basis. A protein homology model of human vitamin K epoxide reductase, subunit 1 (VKORC1), was generated to elucidate the mechanism of warfarin resistance observed in a patient with the Val66Met mutation. The VKORC1 homology model comprises four transmembrane (TM) helical domains and a half helical lid domain. Cys132 and Cys135, located in the N-terminal end of TM-4, are linked through a disulfide bond. Two distinct binding sites for warfarin were identified. Site-1, which binds vitamin K epoxide (KO) in a catalytically favorable orientation, shows higher affinity for S-warfarin compared with R-warfarin. Site-2, positioned in the domain occupied by the hydrophobic tail of KO, binds both warfarin enantiomers with similar affinity. Displacement of Arg37 occurs in the Val66Met mutant, blocking access of warfarin (but not KO) to Site-1, consistent with clinical observation of warfarin resistance.

  14. Antibiotic and antiseptic resistance genes are linked on a novel mobile genetic element: Tn6087

    Science.gov (United States)

    Ciric, Lena; Mullany, Peter; Roberts, Adam P.

    2011-01-01

    Objectives Tn916-like elements are one of the most common types of integrative and conjugative element (ICE). In this study we aimed to determine whether novel accessory genes, i.e. genes whose products are not involved in mobility or regulation, were present on a Tn916-like element (Tn6087) isolated from Streptococcus oralis from the human oral cavity. Methods A minocycline-resistant isolate was analysed using restriction fragment length polymorphism (RFLP) analysis on amplicons derived from Tn916 and DNA sequencing to determine whether there were genetic differences in Tn6087 compared with Tn916. Mutational analysis was used to determine whether the novel accessory gene found was responsible for an observed extra phenotype. Results A novel Tn916-like element, Tn6087, is described that encodes both antibiotic and antiseptic resistance. The antiseptic resistance protein is encoded by a novel small multidrug resistance gene, designated qrg, that was shown to encode resistance to cetyltrimethylammonium bromide (CTAB), also known as cetrimide bromide. Conclusions This is the first Tn916-like element described that confers both antibiotic and antiseptic resistance, suggesting that selection of either antibiotic or antiseptic resistance will also select for the other and further highlights the need for prudent use of both types of compound. PMID:21816764

  15. Genetic risk scores link body fat distribution with specific cardiometabolic profiles

    DEFF Research Database (Denmark)

    Svendstrup, Mathilde; Sandholt, Camilla H; Andersson Galijatovic, Ehm Astrid

    2016-01-01

    , including fasting serum triglyceride (β = 0.98% mmol/L, P = 3.33 × 10(-) (8) ) and Matsuda index (β = -0.74%, P = 1.29 × 10(-) (4) ). No similar associations for Clusters 2 and 3 were found. The three clusters showed different patterns of association with waist circumference, hip circumference, and height......OBJECTIVE: Forty-nine known single nucleotide polymorphisms (SNPs) associating with body mass index (BMI)-adjusted waist-hip-ratio (WHR) (WHRadjBMI) were recently suggested to cluster into three groups with different associations to cardiometabolic traits. Genetic risk scores of the clusters...... risk scores and anthropometry and blood samples at fasting and during an oral glucose tolerance test were tested. Analyses were adjusted for age, sex, and BMI. RESULTS: Cluster 1 associated with an increased risk of diabetes (HR = 1.05, P = 2.74 × 10(-) (4) ) and with a poor metabolic profile...

  16. Genetic Correlates of Maladaptive Beliefs: COMT VAL(158)MET and Irrational Cognitions Linked Depending on Distress.

    Science.gov (United States)

    Podina, Ioana; Popp, Radu; Pop, Ioan; David, Daniel

    2015-11-01

    Maladaptive/irrational beliefs are significant cognitive vulnerability mechanisms in psychopathology. They are more likely to be associated with a genetic vulnerability marker under conditions of emotional distress when irrational beliefs are more salient. Therefore, in the current study we investigated the COMT Val(158)Met gene variation in relation to irrational beliefs, assuming this relationship depended on the level of emotional distress. Two hundred and sixty-seven genotyped volunteers were assessed for core/general maladaptive beliefs, as well as trait emotional distress. We focused on context-independent measures of irrational beliefs and emotional distress in the absence of a stressor. As expected, the relationship between COMT Val(158)Met and irrational beliefs depended on the level of emotional distress (f(2)=.314). The COMT Val(158)Met-irrationality association was significant only when individuals fell in the average to above average range of emotional distress. Furthermore, within this range the Met allele seemed to relate to higher irrational beliefs. These results were significant for overall irrational beliefs and its subtypes, but not for rational beliefs, the functional counterpart of irrationality. In light of the study's limitations, the results should be considered as preliminary. If replicable, these findings have potential implications for therapygenetics, changing the view that COMT Val(158)Met might be of greater relevance when treatment modality does not rely on cognitive variables. Copyright © 2015. Published by Elsevier Ltd.

  17. Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

    Directory of Open Access Journals (Sweden)

    Kok Siong Poon BSc

    2015-08-01

    Full Text Available Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX have been causally associated with X-linked hypophosphatemic rickets (XLHR. The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. A sequencing assay targeting the PHEX gene was first performed on the mother’s DNA to screen for mutations in the 5′UTR, 22 coding exons, and the exon-intron junctions. Targeted mutation analysis and mRNA studies were subsequently performed on the boys’ DNA to investigate the pathogenicity of the identified mutation. Genetic screening of the PHEX gene revealed a novel mutation, c.1080-2A>C, at the splice acceptor site in intron 9. The detection of an aberrant mRNA transcript with skipped (loss of exon 10 establishes its pathogenicity and confirms the diagnosis of XLHR in this infant. Genetic testing of the PHEX gene resulted in early diagnosis of XLHR, thus enabling initiation of therapy and prevention of progressive rachitic changes in the infant.

  18. Sex linked versus autosomal inbreeding coefficient in close consanguineous marriages in the Basque country and Castile (Spain): genetic implications.

    Science.gov (United States)

    Calderón, R; Morales, B; Peña, J A; Delgado, J

    1995-10-01

    Pedigree structures of 161 uncle/niece-aunt/nephew and 4420 first cousin consanguineous marriages registered during the 19th and 20th centuries in two large and very different Spanish regions have been analysed and their genetic consequences evaluated. The frequencies of the different pedigree subtypes within each degree of relationship were quite similar in both populations despite significant heterogeneity in inbreeding patterns. The mean X-linked inbreeding coefficient (Fx) for each type of cousin mating was calculated and compared to that expected for autosomal genes (F). The effect of genealogical structure on the Fx/F ratio was compared to different cultural populations worldwide. Preferentiality and avoidance of close consanguinity along with specific types of pedigrees are discussed on the basis of premarital migration and sociocultural rules still deeply rooted in certain human groups. By admitting that the observed Fx coefficient is usually higher than F in most human populations some remarks have been made in terms of population genetic risk.

  19. Review of revised Klamath River Total Maximum Daily Load models from Link River Dam to Keno Dam, Oregon

    Science.gov (United States)

    Rounds, Stewart A.; Sullivan, Annett B.

    2013-01-01

    Flow and water-quality models are being used to support the development of Total Maximum Daily Load (TMDL) plans for the Klamath River downstream of Upper Klamath Lake (UKL) in south-central Oregon. For riverine reaches, the RMA-2 and RMA-11 models were used, whereas the CE-QUAL-W2 model was used to simulate pooled reaches. The U.S. Geological Survey (USGS) was asked to review the most upstream of these models, from Link River Dam at the outlet of UKL downstream through the first pooled reach of the Klamath River from Lake Ewauna to Keno Dam. Previous versions of these models were reviewed in 2009 by USGS. Since that time, important revisions were made to correct several problems and address other issues. This review documents an assessment of the revised models, with emphasis on the model revisions and any remaining issues. The primary focus of this review is the 19.7-mile Lake Ewauna to Keno Dam reach of the Klamath River that was simulated with the CE-QUAL-W2 model. Water spends far more time in the Lake Ewauna to Keno Dam reach than in the 1-mile Link River reach that connects UKL to the Klamath River, and most of the critical reactions affecting water quality upstream of Keno Dam occur in that pooled reach. This model review includes assessments of years 2000 and 2002 current conditions scenarios, which were used to calibrate the model, as well as a natural conditions scenario that was used as the reference condition for the TMDL and was based on the 2000 flow conditions. The natural conditions scenario included the removal of Keno Dam, restoration of the Keno reef (a shallow spot that was removed when the dam was built), removal of all point-source inputs, and derivation of upstream boundary water-quality inputs from a previously developed UKL TMDL model. This review examined the details of the models, including model algorithms, parameter values, and boundary conditions; the review did not assess the draft Klamath River TMDL or the TMDL allocations

  20. Sex-linked dominant

    Science.gov (United States)

    Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... can be either an autosomal chromosome or a sex chromosome. It also depends on whether the trait ...

  1. Generation of a monoclonal antibody against the glycosylphosphatidylinositol-linked protein Rae-1 using genetically engineered tumor cells.

    Science.gov (United States)

    Hu, Jiemiao; Vien, Long T; Xia, Xueqing; Bover, Laura; Li, Shulin

    2014-02-04

    Although genetically engineered cells have been used to generate monoclonal antibodies (mAbs) against numerous proteins, no study has used them to generate mAbs against glycosylphosphatidylinositol (GPI)-anchored proteins. The GPI-linked protein Rae-1, an NKG2D ligand member, is responsible for interacting with immune surveillance cells. However, very few high-quality mAbs against Rae-1 are available for use in multiple analyses, including Western blotting, immunohistochemistry, and flow cytometry. The lack of high-quality mAbs limits the in-depth analysis of Rae-1 fate, such as shedding and internalization, in murine models. Moreover, currently available screening approaches for identifying high-quality mAbs are excessively time-consuming and costly. We used Rae-1-overexpressing CT26 tumor cells to generate 60 hybridomas that secreted mAbs against Rae-1. We also developed a streamlined screening strategy for selecting the best anti-Rae-1 mAb for use in flow cytometry assay, enzyme-linked immunosorbent assay, Western blotting, and immunostaining. Our cell line-based immunization approach can yield mAbs against GPI-anchored proteins, and our streamlined screening strategy can be used to select the ideal hybridoma for producing such mAbs.

  2. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

    Science.gov (United States)

    Horikoshi, Momoko; Yaghootkar, Hanieh; Mook-Kanamori, Dennis O.; Sovio, Ulla; Taal, H. Rob; Hennig, Branwen J.; Bradfield, Jonathan P.; St. Pourcain, Beate; Evans, David M.; Charoen, Pimphen; Kaakinen, Marika; Cousminer, Diana L.; Lehtimäki, Terho; Kreiner-Møller, Eskil; Warrington, Nicole M.; Bustamante, Mariona; Feenstra, Bjarke; Berry, Diane J.; Thiering, Elisabeth; Pfab, Thiemo; Barton, Sheila J.; Shields, Beverley M.; Kerkhof, Marjan; van Leeuwen, Elisabeth M.; Fulford, Anthony J.; Kutalik, Zoltán; Zhao, Jing Hua; den Hoed, Marcel; Mahajan, Anubha; Lindi, Virpi; Goh, Liang-Kee; Hottenga, Jouke-Jan; Wu, Ying; Raitakari, Olli T.; Harder, Marie N.; Meirhaeghe, Aline; Ntalla, Ioanna; Salem, Rany M.; Jameson, Karen A.; Zhou, Kaixin; Monies, Dorota M.; Lagou, Vasiliki; Kirin, Mirna; Heikkinen, Jani; Adair, Linda S.; Alkuraya, Fowzan S.; Al-Odaib, Ali; Amouyel, Philippe; Andersson, Ehm Astrid; Bennett, Amanda J.; Blakemore, Alexandra I.F.; Buxton, Jessica L.; Dallongeville, Jean; Das, Shikta; de Geus, Eco J. C.; Estivill, Xavier; Flexeder, Claudia; Froguel, Philippe; Geller, Frank; Godfrey, Keith M.; Gottrand, Frédéric; Groves, Christopher J.; Hansen, Torben; Hirschhorn, Joel N.; Hofman, Albert; Hollegaard, Mads V.; Hougaard, David M.; Hyppönen, Elina; Inskip, Hazel M.; Isaacs, Aaron; Jørgensen, Torben; Kanaka-Gantenbein, Christina; Kemp, John P.; Kiess, Wieland; Kilpeläinen, Tuomas O.; Klopp, Norman; Knight, Bridget A.; Kuzawa, Christopher W.; McMahon, George; Newnham, John P.; Niinikoski, Harri; Oostra, Ben A.; Pedersen, Louise; Postma, Dirkje S.; Ring, Susan M.; Rivadeneira, Fernando; Robertson, Neil R.; Sebert, Sylvain; Simell, Olli; Slowinski, Torsten; Tiesler, Carla M.T.; Tönjes, Anke; Vaag, Allan; Viikari, Jorma S.; Vink, Jacqueline M.; Vissing, Nadja Hawwa; Wareham, Nicholas J.; Willemsen, Gonneke; Witte, Daniel R.; Zhang, Haitao; Zhao, Jianhua; Wilson, James F.; Stumvoll, Michael; Prentice, Andrew M.; Meyer, Brian F.; Pearson, Ewan R.; Boreham, Colin A.G.; Cooper, Cyrus; Gillman, Matthew W.; Dedoussis, George V.; Moreno, Luis A; Pedersen, Oluf; Saarinen, Maiju; Mohlke, Karen L.; Boomsma, Dorret I.; Saw, Seang-Mei; Lakka, Timo A.; Körner, Antje; Loos, Ruth J.F.; Ong, Ken K.; Vollenweider, Peter; van Duijn, Cornelia M.; Koppelman, Gerard H.; Hattersley, Andrew T.; Holloway, John W.; Hocher, Berthold; Heinrich, Joachim; Power, Chris; Melbye, Mads; Guxens, Mònica; Pennell, Craig E.; Bønnelykke, Klaus; Bisgaard, Hans; Eriksson, Johan G.; Widén, Elisabeth; Hakonarson, Hakon; Uitterlinden, André G.; Pouta, Anneli; Lawlor, Debbie A.; Smith, George Davey; Frayling, Timothy M.; McCarthy, Mark I.; Grant, Struan F.A.; Jaddoe, Vincent W.V.; Jarvelin, Marjo-Riitta; Timpson, Nicholas J.; Prokopenko, Inga; Freathy, Rachel M.

    2012-01-01

    Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood1. Previous genome-wide association studies identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes, and a second variant, near CCNL1, with no obvious link to adult traits2. In an expanded genome-wide association meta-analysis and follow-up study (up to 69,308 individuals of European descent from 43 studies), we have now extended the number of genome-wide significant loci to seven, accounting for a similar proportion of variance to maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes; ADRB1 with adult blood pressure; and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism. PMID:23202124

  3. Pupil Dilation and EEG Alpha Frequency Band Power Reveal Load on Executive Functions for Link-Selection Processes during Text Reading.

    Directory of Open Access Journals (Sweden)

    Christian Scharinger

    Full Text Available Executive working memory functions play a central role in reading comprehension. In the present research we were interested in additional load imposed on executive functions by link-selection processes during computer-based reading. For obtaining process measures, we used a methodology of concurrent electroencephalographic (EEG and eye-tracking data recording that allowed us to compare epochs of pure text reading with epochs of hyperlink-like selection processes in an online reading situation. Furthermore, this methodology allowed us to directly compare the two physiological load-measures EEG alpha frequency band power and pupil dilation. We observed increased load on executive functions during hyperlink-like selection processes on both measures in terms of decreased alpha frequency band power and increased pupil dilation. Surprisingly however, the two measures did not correlate. Two additional experiments were conducted that excluded potential perceptual, motor, or structural confounds. In sum, EEG alpha frequency band power and pupil dilation both turned out to be sensitive measures for increased load during hyperlink-like selection processes in online text reading.

  4. Application of a genetic algorithm in the conformational analysis of methylene-acetal-linked thymine dimers in DNA: Comparison with distance geometry calculations

    International Nuclear Information System (INIS)

    Beckers, Mischa L.M.; Buydens, Lutgarde M.C.; Pikkemaat, Jeroen A.; Altona, Cornelis

    1997-01-01

    The three-dimensional spatial structure of a methylene-acetal-linked thymine dimer present in a 10 base-pair (bp) sense-antisense DNA duplex was studied with a genetic algorithm designed to interpret NOE distance restraints. Trial solutions were represented by torsion angles. This means that bond angles for the dimer trial structures are kept fixed during the genetic algorithm optimization. Bond angle values were extracted from a 10 bp sense-antisense duplex model that was subjected to energy minimization by means of a modified AMBER force field. A set of 63 proton-proton distance restraints defining the methylene-acetal-linked thymine dimer was available. The genetic algorithm minimizes the difference between distances in the trial structures and distance restraints. A large conformational search space could be covered in the genetic algorithm optimization by allowing a wide range of torsion angles. The genetic algorithm optimization in all cases led to one family of structures. This family of the methylene-acetal-linked thymine dimer in the duplex differs from the family that was suggested from distance geometry calculations. It is demonstrated that the bond angle geometry around the methylene-acetal linkage plays an important role in the optimization

  5. Prediction of composite fatigue life under variable amplitude loading using artificial neural network trained by genetic algorithm

    Science.gov (United States)

    Rohman, Muhamad Nur; Hidayat, Mas Irfan P.; Purniawan, Agung

    2018-04-01

    Neural networks (NN) have been widely used in application of fatigue life prediction. In the use of fatigue life prediction for polymeric-base composite, development of NN model is necessary with respect to the limited fatigue data and applicable to be used to predict the fatigue life under varying stress amplitudes in the different stress ratios. In the present paper, Multilayer-Perceptrons (MLP) model of neural network is developed, and Genetic Algorithm was employed to optimize the respective weights of NN for prediction of polymeric-base composite materials under variable amplitude loading. From the simulation result obtained with two different composite systems, named E-glass fabrics/epoxy (layups [(±45)/(0)2]S), and E-glass/polyester (layups [90/0/±45/0]S), NN model were trained with fatigue data from two different stress ratios, which represent limited fatigue data, can be used to predict another four and seven stress ratios respectively, with high accuracy of fatigue life prediction. The accuracy of NN prediction were quantified with the small value of mean square error (MSE). When using 33% from the total fatigue data for training, the NN model able to produce high accuracy for all stress ratios. When using less fatigue data during training (22% from the total fatigue data), the NN model still able to produce high coefficient of determination between the prediction result compared with obtained by experiment.

  6. Genetic Variation and Association Analysis of the SSR Markers Linked to the Major Drought-Yield QTLs of Rice.

    Science.gov (United States)

    Tabkhkar, Narjes; Rabiei, Babak; Samizadeh Lahiji, Habibollah; Hosseini Chaleshtori, Maryam

    2018-02-24

    Drought is one of the major abiotic stresses, which hampers the production of rice worldwide. Informative molecular markers are valuable tools for improving the drought tolerance in various varieties of rice. The present study was conducted to evaluate the informative simple sequence repeat (SSR) markers in a diverse set of rice genotypes. The genetic diversity analyses of the 83 studied rice genotypes were performed using 34 SSR markers closely linked to the major quantitative trait loci (QTLs) of grain yield under drought stress (qDTYs). In general, our results indicated high levels of polymorphism. In addition, we screened these rice genotypes at the reproductive stage under both drought stress and nonstressful conditions. The results of the regression analysis demonstrated a significant relationship between 11 SSR marker alleles and the plant paddy weight under stressful conditions. Under the nonstressful conditions, 16 SSR marker alleles showed a significant correlation with the plant paddy weight. Finally, four markers (RM279, RM231, RM166, and RM231) demonstrated a significant association with the plant paddy weight under both stressful and nonstressful conditions. These informative-associated alleles may be useful for improving the crop yield under both drought stress and nonstressful conditions in breeding programs.

  7. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

    Science.gov (United States)

    Iacovazzo, Donato; Caswell, Richard; Bunce, Benjamin; Jose, Sian; Yuan, Bo; Hernández-Ramírez, Laura C; Kapur, Sonal; Caimari, Francisca; Evanson, Jane; Ferraù, Francesco; Dang, Mary N; Gabrovska, Plamena; Larkin, Sarah J; Ansorge, Olaf; Rodd, Celia; Vance, Mary L; Ramírez-Renteria, Claudia; Mercado, Moisés; Goldstone, Anthony P; Buchfelder, Michael; Burren, Christine P; Gurlek, Alper; Dutta, Pinaki; Choong, Catherine S; Cheetham, Timothy; Trivellin, Giampaolo; Stratakis, Constantine A; Lopes, Maria-Beatriz; Grossman, Ashley B; Trouillas, Jacqueline; Lupski, James R; Ellard, Sian; Sampson, Julian R; Roncaroli, Federico; Korbonits, Márta

    2016-06-01

    Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly.We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants.We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes in found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic of familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases.In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101

  8. Linking Genetic Variation in Adaptive Plant Traits to Climate in Tetraploid and Octoploid Basin Wildrye [Leymus cinereus (Scribn. & Merr.) A. Love] in the Western U.S.

    Science.gov (United States)

    Johnson, R C; Vance-Borland, Ken

    2016-01-01

    Few studies have assessed how ploidy type within a species affects genetic variation among populations in relation to source climates. Basin wildrye (Leymus cinereus (Scribn. & Merr.) A. Love) is a large bunchgrass common in the intermountain Western U.S. found in both octoploid and tetraploid types. In common gardens at two sites over two years differences in both ploidy type and genetic variation within ploidy were observed in phenology, morphology, and production traits on 57 octoploid and 52 tetraploid basin wildrye from the intermountain Western U.S. (Ptypes. Still, among populations octoploids often had greater genetic variation for traits and occupied more diverse climates than tetraploids. Genetic variation for both ploidy types was linked to source climates in canonical correlation analysis, with the first two variates explaining 70% of the variation. Regression of those canonical variates with seed source climate variables produced models that explained 64% and 38% of the variation, respectively, and were used to map 15 seed zones covering 673,258 km2. Utilization of these seed zones will help ensure restoration with adaptive seed sources for both ploidy types. The link between genetic traits and seed source climates suggests climate driven natural selection and adaptive evolution in basin wildrye. The more diverse climates occupied by octoploids and higher trait variation suggests a higher capacity for ecological differentiation than tetraploids in the intermountain Western U.S.

  9. A parametric interpretation of Bayesian Nonparametric Inference from Gene Genealogies: Linking ecological, population genetics and evolutionary processes.

    Science.gov (United States)

    Ponciano, José Miguel

    2017-11-22

    Using a nonparametric Bayesian approach Palacios and Minin (2013) dramatically improved the accuracy, precision of Bayesian inference of population size trajectories from gene genealogies. These authors proposed an extension of a Gaussian Process (GP) nonparametric inferential method for the intensity function of non-homogeneous Poisson processes. They found that not only the statistical properties of the estimators were improved with their method, but also, that key aspects of the demographic histories were recovered. The authors' work represents the first Bayesian nonparametric solution to this inferential problem because they specify a convenient prior belief without a particular functional form on the population trajectory. Their approach works so well and provides such a profound understanding of the biological process, that the question arises as to how truly "biology-free" their approach really is. Using well-known concepts of stochastic population dynamics, here I demonstrate that in fact, Palacios and Minin's GP model can be cast as a parametric population growth model with density dependence and environmental stochasticity. Making this link between population genetics and stochastic population dynamics modeling provides novel insights into eliciting biologically meaningful priors for the trajectory of the effective population size. The results presented here also bring novel understanding of GP as models for the evolution of a trait. Thus, the ecological principles foundation of Palacios and Minin (2013)'s prior adds to the conceptual and scientific value of these authors' inferential approach. I conclude this note by listing a series of insights brought about by this connection with Ecology. Copyright © 2017 The Author. Published by Elsevier Inc. All rights reserved.

  10. The genetic link between the Azores Archipelago and the Southern Azores Seamount Chain (SASC): The elemental, isotopic and chronological evidences

    Science.gov (United States)

    Ribeiro, Luisa Pinto; Martins, Sofia; Hildenbrand, Anthony; Madureira, Pedro; Mata, João

    2017-12-01

    New geochemical, isotopic (Sr-Nd-Hf-Pb) and K-Ar data, are presented here on samples from the Southern Azores Seamount Chain (SASC) located south of the Azores Plateau. The SASC also includes the Great Meteor, Small Meteor and Closs seamounts, morphologically connected by a saddle at - 4100 m deep. We conclude that the SASC are characterized by a narrow isotopic variability that falls within the Azores isotopic field. Although each seamount has its own isotopic signature, their mantle source must comprise four local mantle end-members, three of which are common to the Azores, e.g. Plato isotopic signature results from the mixing between HIMU and N-MORB while Great Meteor signature results from this mix with the Azores Common Component (AzCC). A fourth end-member with high 208Pb/204Pb and decoupled Th/U ratios (Δ8/4 up to 59.2) is identified on Great Meteor northern flank. New K-Ar ages on Plato (33.4 ± 0.5 Ma) and Small Hyeres (31.6 ± 0.4 Ma) show nearly coeval volcanism, which is contemporaneous with the E-MORBs erupted at the MAR, drilled on oceanic crust with 30-34 Ma (DSDP82). This study endorses the genetic link between the Azores Archipelago and the SASC to the long-term activity of the Azores plume and the large-scale ridge-hotspot interaction, contributing to better constrain the temporal-spatial evolution of this region of the North Atlantic.

  11. Radiation cross-linked carboxymethyl sago pulp hydrogels loaded with ciprofloxacin: Influence of irradiation on gel fraction, entrapped drug and in vitro release

    International Nuclear Information System (INIS)

    Lam, Yi Lyn; Muniyandy, Saravanan; Kamaruddin, Hashim; Mansor, Ahmad; Janarthanan, Pushpamalar

    2015-01-01

    Carboxymethyl sago pulp (CMSP) with 0.4 DS, viscosity 184 dl/g and molecular weight 76,000 g/mol was synthesized from sago waste. 10 and 20% w/v solutions of CMSP were irradiated at 10–30 kGy to form hydrogels and were characterized by % gel fraction (GF). Irradiation of 20% CMSP using 25 kGy has produced stable hydrogels with the highest % GF and hence loaded with ciprofloxacin HCl. Drug-loaded hydrogels were produced by irradiating the mixture of drug and 20% CMSP solution at 25 kGy. After irradiation, the hydrogels were cut into circular discs with a diameter of 6±1 mm and evaluated for physicochemical properties as well as drug release kinetics. The ciprofloxacin loading in the disc was 14.7%±1 w/w with an entrapment efficiency of 73.5% w/w. The low standard deviation of drug-loaded discs indicated uniform thickness (1.5±0.3 mm). The unloaded discs were thinner (1±0.4 mm) and more brittle than the drug-loaded discs. FESEM, FT-IR, XRD, DSC and TGA analysis revealed the absence of polymer–drug interaction and transformation of crystalline to amorphous form of ciprofloxacin in the discs. The disc sustained the drug release in phosphate buffer pH 7.4 over 36 h in a first-order manner. The mechanism of the drug release was found to be swelling controlled diffusion and matrix erosion. The anti-bacterial effect of ciprofloxacin was retained after irradiation and CMSP disc could be a promising device for ocular drug delivery. - Highlights: • Carboxymethyl sago pulp (CMSP) with ciprofloxacin is irradiated to form hydrogels. • 20% CMSP at 25 kGy has produced stable hydrogels with the highest gel fraction. • Crystalline ciprofloxacin converted as amorphous during hydrogel formation. • Hydrogel in disc form sustained the drug release drug up to 36 h. • Irradiation cross-linked polymeric chain of CMSP resulted in controlled swelling

  12. Population genetics of Phytophthora infestans in Denmark reveals dominantly clonal populations and specific alleles linked to metalaxyl-M resistance

    DEFF Research Database (Denmark)

    Montes, M. S.; Nielsen, Bent Jørgen; Schmidt, S. G.

    2016-01-01

    population of P. infestans was characterized over the course of the 2013 growing season, as was the population genetic structure, using simple sequence repeat (SSR) genotypes and single nucleotide polymorphism (SNP)-based mitochondrial haplotyping of over 80 isolates. Both mating types A1 and A2 were present...... in most fields, but tests for recombination showed that clonal reproduction dominates in Danish populations. Genotype was not linked to haplotype and no differentiation was observed at the haplotype level, but rather between fields. Resistance phenotypes were linked to specific SSR alleles, demonstrating...

  13. Conservation of Sex-Linked Markers among Conspecific Populations of a Viviparous Skink, Niveoscincus ocellatus, Exhibiting Genetic and Temperature-Dependent Sex Determination

    Science.gov (United States)

    Burridge, Christopher P; Ezaz, Tariq; Wapstra, Erik

    2018-01-01

    Abstract Sex determination systems are exceptionally diverse and have undergone multiple and independent evolutionary transitions among species, particularly reptiles. However, the mechanisms underlying these transitions have not been established. Here, we tested for differences in sex-linked markers in the only known reptile that is polymorphic for sex determination system, the spotted snow skink, Niveoscincus ocellatus, to quantify the genomic differences that have accompanied this transition. In a highland population, sex is determined genetically, whereas in a lowland population, offspring sex ratio is influenced by temperature. We found a similar number of sex-linked loci in each population, including shared loci, with genotypes consistent with male heterogamety (XY). However, population-specific linkage disequilibrium suggests greater differentiation of sex chromosomes in the highland population. Our results suggest that transitions between sex determination systems can be facilitated by subtle genetic differences. PMID:29659810

  14. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.

    Science.gov (United States)

    Goji, Katsumi; Ozaki, Kayo; Sadewa, Ahmad H; Nishio, Hisahide; Matsuo, Masafumi

    2006-02-01

    Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant disorder (XLH), although autosomal dominant forms have also been observed. Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively. The objective of the study was to describe the molecular genetic findings in a family affected by hypophosphatemic rickets with presumed autosomal dominant inheritance. We studied a family in which the father and the elder of his two daughters, but not the second daughter, were affected by hypophosphatemic rickets. The pedigree interpretation of the family suggested that genetic transmission of the disorder occurred as an autosomal dominant trait. Direct nucleotide sequencing of FGF23 and PHEX revealed that the elder daughter was heterozygous for an R567X mutation in PHEX, rather than FGF23, suggesting that the genetic transmission occurred as an X-linked dominant trait. Unexpectedly, the father was heterozygous for this mutation. Single-nucleotide primer extension and denaturing HPLC analysis of the father using DNA from single hair roots revealed that he was a somatic mosaic for the mutation. Haplotype analysis confirmed that the father transmitted the genotypes for 18 markers on the X chromosome equally to his two daughters. The fact that the father transmitted the mutation to only one of his two daughters indicated that he was a germline mosaic for the mutation. Somatic and germline mosaicism for an X-linked dominant mutation in PHEX may mimic autosomal dominant inheritance.

  15. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  16. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  17. Genetic and environmental etiology of stability and changes in self-esteem linked to personality: A Japanese twin study

    OpenAIRE

    Shikishima, Chizuru; Hiraishi, Kai; Takahashi, Yusuke; Yamagata, Shinji; Yamaguchi, Susumu; Ando, Juko

    2018-01-01

    This study used a behavioral genetic approach to examine the genetic and environmental etiology of stability and changes in self-esteem in relation to personality. Multiple genetic analyses were conducted on a longitudinal dataset of self-esteem and Big Five personality scores among young adult Japanese twins over the course of a decade. There were 1221 individuals for whom data were available on both self-esteem and the Big Five personality test at Time 1 and 365 at Time 2. The mean interval...

  18. Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

    Science.gov (United States)

    ... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

  19. The Genetics Underlying Natural Variation in the Biotic Interactions of Arabidopsis thaliana: The Challenges of Linking Evolutionary Genetics and Community Ecology.

    Science.gov (United States)

    Roux, F; Bergelson, J

    2016-01-01

    In the context of global change, predicting the responses of plant communities in an ever-changing biotic environment calls for a multipronged approach at the interface of evolutionary genetics and community ecology. However, our understanding of the genetic basis of natural variation involved in mediating biotic interactions, and associated adaptive dynamics of focal plants in their natural communities, is still in its infancy. Here, we review the genetic and molecular bases of natural variation in the response to biotic interactions (viruses, bacteria, fungi, oomycetes, herbivores, and plants) in the model plant Arabidopsis thaliana as well as the adaptive value of these bases. Among the 60 identified genes are a number that encode nucleotide-binding site leucine-rich repeat (NBS-LRR)-type proteins, consistent with early examples of plant defense genes. However, recent studies have revealed an extensive diversity in the molecular mechanisms of defense. Many types of genetic variants associate with phenotypic variation in biotic interactions, even among the genes of large effect that tend to be identified. In general, we found that (i) balancing selection rather than directional selection explains the observed patterns of genetic diversity within A. thaliana and (ii) the cost/benefit tradeoffs of adaptive alleles can be strongly dependent on both genomic and environmental contexts. Finally, because A. thaliana rarely interacts with only one biotic partner in nature, we highlight the benefit of exploring diffuse biotic interactions rather than tightly associated host-enemy pairs. This challenge would help to improve our understanding of coevolutionary quantitative genetics within the context of realistic community complexity. © 2016 Elsevier Inc. All rights reserved.

  20. Linking Genetic Variation in Adaptive Plant Traits to Climate in Tetraploid and Octoploid Basin Wildrye [Leymus cinereus (Scribn. & Merr. A. Love] in the Western U.S.

    Directory of Open Access Journals (Sweden)

    R C Johnson

    Full Text Available Few studies have assessed how ploidy type within a species affects genetic variation among populations in relation to source climates. Basin wildrye (Leymus cinereus (Scribn. & Merr. A. Love is a large bunchgrass common in the intermountain Western U.S. found in both octoploid and tetraploid types. In common gardens at two sites over two years differences in both ploidy type and genetic variation within ploidy were observed in phenology, morphology, and production traits on 57 octoploid and 52 tetraploid basin wildrye from the intermountain Western U.S. (P<0.01. Octoploids had larger leaves, longer culms, and greater crown circumference than tetraploids but the numerical ranges of plant traits and their source climates overlapped between ploidy types. Still, among populations octoploids often had greater genetic variation for traits and occupied more diverse climates than tetraploids. Genetic variation for both ploidy types was linked to source climates in canonical correlation analysis, with the first two variates explaining 70% of the variation. Regression of those canonical variates with seed source climate variables produced models that explained 64% and 38% of the variation, respectively, and were used to map 15 seed zones covering 673,258 km2. Utilization of these seed zones will help ensure restoration with adaptive seed sources for both ploidy types. The link between genetic traits and seed source climates suggests climate driven natural selection and adaptive evolution in basin wildrye. The more diverse climates occupied by octoploids and higher trait variation suggests a higher capacity for ecological differentiation than tetraploids in the intermountain Western U.S.

  1. The ABCs of Math: A Genetic Analysis of Mathematics and Its Links With Reading Ability and General Cognitive Ability

    Science.gov (United States)

    Hart, Sara A.; Petrill, Stephen A.; Thompson, Lee A.; Plomin, Robert

    2009-01-01

    The goal of this first major report from the Western Reserve Reading Project Math component is to explore the etiology of the relationship among tester-administered measures of mathematics ability, reading ability, and general cognitive ability. Data are available on 314 pairs of monozygotic and same-sex dizygotic twins analyzed across 5 waves of assessment. Univariate analyses provide a range of estimates of genetic (h2 = .00 –.63) and shared (c2 = .15–.52) environmental influences across math calculation, fluency, and problem solving measures. Multivariate analyses indicate genetic overlap between math problem solving with general cognitive ability and reading decoding, whereas math fluency shares significant genetic overlap with reading fluency and general cognitive ability. Further, math fluency has unique genetic influences. In general, math ability has shared environmental overlap with general cognitive ability and decoding. These results indicate that aspects of math that include problem solving have different genetic and environmental influences than math calculation. Moreover, math fluency, a timed measure of calculation, is the only measured math ability with unique genetic influences. PMID:20157630

  2. Genetic Drift Linked to Heterogeneous Landscape and Ecological Specialization Drives Diversification in the Alpine Endemic Columbine Aquilegia thalictrifolia.

    Science.gov (United States)

    Lega, Margherita; Fior, Simone; Li, Mingai; Leonardi, Stefano; Varotto, Claudio

    2014-01-01

    The European Alpine system is an extensive mountain range, whose heterogeneous landscape together with Quaternary climatic oscillations significantly affected organismal diversity and distribution in Europe. The model genus Aquilegia represents a textbook example of a rapid and recent radiation through the Northern hemisphere, with the majority of the European taxa occuring in the Alpine system. However, the processes governing genetic differentiation of the genus in this complex geographic area are still widely unexplored. In this work, we used 9 microsatellite loci to study the genetic structure and diversity of 11 populations of Aquilegia thalictrifolia Schott & Kotschy, an alpine taxon characterized by a marked ecological specificity. We found that, despite the endemic and fragmented distribution, A. thalictrifolia has overall high levels of heterozygosity, which is consistent to the substantial inbreeding depression that characterizes the genus. Strong spatial genetic structuring of populations suggests a historical prevalence of genetic drift over gene flow, with natural barriers and ecological niche hindering migration. An analytical comparison of fixation and population differentiation indexes allowed us to infer hypotheses of the postglacial history and more recent demographic events that have influenced the genetics of the species. Overall, our results indicate allopatry as a major force of differentiation in the European scenario, likely to underlie the development of taxonomic boundaries in a broader geographic context. This adds to previous notions on the primary evolutionary forces shaping the Aquilegia radiation in Europe. © The American Genetic Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  3. Genetic-linked Inattentiveness Protects Individuals from Internet Overuse: A Genetic Study of Internet Overuse Evaluating Hypotheses Based on Addiction, Inattention, Novelty-seeking and Harm-avoidance

    Directory of Open Access Journals (Sweden)

    Cheng Sun

    2016-06-01

    Full Text Available The all-pervasive Internet has created serious problems, such as Internet overuse, which has triggered considerable debate over its relationship with addiction. To further explore its genetic susceptibilities and alternative explanations for Internet overuse, we proposed and evaluated four hypotheses, each based on existing knowledge of the biological bases of addiction, inattention, novelty-seeking, and harm-avoidance. Four genetic loci including DRD4 VNTR, DRD2 Taq1A, COMT Val158Met and 5-HTTLPR length polymorphisms were screened from seventy-three individuals. Our results showed that the DRD4 4R/4R individuals scored significantly higher than the 2R or 7R carriers in Internet Addiction Test (IAT. The 5-HTTLPR short/short males scored significantly higher in IAT than the long variant carriers. Bayesian analysis showed the most compatible hypothesis with the observed genetic results was based on attention (69.8%, whereas hypotheses based harm-avoidance (21.6%, novelty-seeking (7.8% and addiction (0.9% received little support. Our study suggests that carriers of alleles (DRD4 2R and 7R, 5-HTTLPR long associated with inattentiveness are more likely to experience disrupted patterns and reduced durations of Internet use, protecting them from Internet overuse. Furthermore, our study suggests that Internet overuse should be categorized differently from addiction due to the lack of shared genetic contributions.

  4. Possible genetic link between I-type granite and orogenic gold deposits in Egypt (metamorphic-magmatic interaction?)

    Science.gov (United States)

    Abd El Monsef, Mohamed

    2015-04-01

    ores revealed two main groups of fluid inclusions in both areas: A) Aqueous inclusions (H2O-NaCl±KCl system), and B) Carbonic inclusions (H2O-CO2-NaCl±CH4). A drop of pressure during the migration of these fluids to shallower depths along the shear zones was the main reason for phase separation. Isochores calculation from microthermometric results proved that, the P-T boundary conditions outlined for Fatira gold deposits are of 275° to 297° C and between (0.2 - 1.2 Kbar); and of 277° to 300° C and between (0.2 - 1 Kbar) for Gidami gold deposits. The normalization Chondrite patterns of rare earth elements (REEs) for the gold-ore deposits with the surrounding I-type granitic rocks exhibit an obvious similarity and positive correlation. The geological, mineralogical, geochemical and fluid inclusions studies revealed a genetic link between gold mineralization and intrusion of calc-alkaine granitic magma. Whereas, The granitic magma acts as a supplier for the ore-bearing fluid and as a heat source for metamorphic processes, leading to hydrothermal convection currents.

  5. Loss of Function Studies in Mice and Genetic Association Link Receptor Protein Tyrosine Phosphatase a to Schizophrenia

    DEFF Research Database (Denmark)

    Takahashi, Nagahide; Nielsen, Karin Sandager; Aleksic, Branko

    2011-01-01

    Solid evidence links schizophrenia (SZ) susceptibility to neurodevelopmental processes involving tyrosine phosphorylation-mediated signaling. Mouse studies implicate the Ptpra gene, encoding protein tyrosine phosphatase RPTPa, in the control of radial neuronal migration, cortical cytoarchitecture...

  6. Blastocystis Isolates from Patients with Irritable Bowel Syndrome and from Asymptomatic Carriers Exhibit Similar Parasitological Loads, but Significantly Different Generation Times and Genetic Variability across Multiple Subtypes.

    Directory of Open Access Journals (Sweden)

    Gie-Bele Vargas-Sanchez

    Full Text Available Blastocystis spp is a common intestinal parasite of humans and animals that has been associated to the etiology of irritable bowel syndrome (IBS; however, some studies have not found this association. Furthermore, many biological features of Blastocystis are little known. The objective of present study was to assess the generation times of Blastocystis cultures, from IBS patients and from asymptomatic carriers. A total of 100 isolates were obtained from 50 IBS patients and from 50 asymptomatic carriers. Up to 50 mg of feces from each participant were cultured in Barret's and in Pavlova's media during 48 h. Initial and final parasitological load were measured by microscopy and by quantitative PCR. Amplicons were purified, sequenced and submitted to GenBank; sequences were analysed for genetic diversity and a Bayesian inference allowed identifying genetic subtypes (ST. Generation times for Blastocystis isolates in both media, based on microscopic measures and molecular assays, were calculated. The clinical symptoms of IBS patients and distribution of Blastocystis ST 1, 2 and 3 in both groups was comparable to previous reports. Interestingly, the group of cases showed scarce mean nucleotide diversity (π as compared to the control group (0.011±0.016 and 0.118±0.177, respectively, whilst high gene flow and small genetic differentiation indexes between different ST were found. Besides, Tajima's D test showed negative values for ST1-ST3. No statistical differences regarding parasitological load between cases and controls in both media, as searched by microscopy and by qPCR, were detected except that parasites grew faster in Barret's than in Pavlova's medium. Interestingly, slow growth of isolates recovered from cases in comparison to those of controls was observed (p<0.05. We propose that generation times of Blastocystis might be easily affected by intestinal environmental changes due to IBS probably because virulent strains with slow growth may be

  7. A Danish Twin Study of Schizophrenia Liability: Investigation from Interviewed Twins for Genetic Links to Affective Psychoses and for Cross-Cohort Comparisons.

    Science.gov (United States)

    Kläning, Ulla; Trumbetta, Susan L; Gottesman, Irving I; Skytthe, Axel; Kyvik, Kirsten O; Bertelsen, Aksel

    2016-03-01

    We studied schizophrenia liability in a Danish population-based sample of 44 twin pairs (13 MZ, 31 DZ, SS plus OS) in order to replicate previous twin study findings using contemporary diagnostic criteria, to examine genetic liability shared between schizophrenia and other disorders, and to explore whether variance in schizophrenia liability attributable to environmental factors may have decreased with successive cohorts exposed to improvements in public health. ICD-10 diagnoses were determined by clinical interview. Although the best-fitting, most parsimonious biometric model of schizophrenia liability specified variance attributable to additive genetic and non-shared environmental factors, this model did not differ significantly from a model that also included non-additive genetic factors, consistent with recent interview-based twin studies. Schizophrenia showed strong genetic links to other psychotic disorders but much less so for the broader category of psychiatric disorders in general. We also observed a marginally significant decline in schizophrenia variance attributable to environmental factors over successive Western European cohorts, consistent perhaps with improvements in diagnosis and in prenatal and perinatal care and with a secular decline in the prevalence of schizophrenia in that region.

  8. Genetic characterization of Moroccan and the exotic bread wheat cultivars using functional and random DNA markers linked to the agronomic traits for genomics-assisted improvement.

    Science.gov (United States)

    Henkrar, Fatima; El-Haddoury, Jamal; Ouabbou, Hassan; Bendaou, Najib; Udupa, Sripada M

    2016-06-01

    Genetic characterization, diversity analysis and estimate of the genetic relationship among varieties using functional and random DNA markers linked to agronomic traits can provide relevant guidelines in selecting parents and designing new breeding strategies for marker-assisted wheat cultivar improvement. Here, we characterize 20 Moroccan and 19 exotic bread wheat (Triticum aestivum L.) cultivars using 47 functional and 7 linked random DNA markers associated with 21 loci of the most important traits for wheat breeding. The functional marker analysis revealed that 35, 45, and 10 % of the Moroccan cultivars, respectively have the rust resistance genes (Lr34/Yr18/Pm38), dwarfing genes (Rht1b or Rht2b alleles) and the leaf rust resistance gene (Lr68). The marker alleles for genes Lr37/Yr17/Sr38, Sr24 and Yr36 were present only in the exotic cultivars and absent in Moroccan cultivars. 25 % of cultivars had 1BL.1RS translocation. 70 % of the wheat cultivars had Ppo-D1a and Ppo-A1b associated with low polyphenol oxidase activity. 10 % of cultivars showed presence of a random DNA marker allele (175 bp) linked to Hessian fly resistance gene H22. The majority of the Moroccan cultivars were carrying alleles that impart good bread making quality. Neighbor joining (NJ) and principal coordinate analysis based on the marker data revealed a clear differentiation between elite Moroccan and exotic wheat cultivars. The results of this study are useful for selecting suitable parents for making targeted crosses in marker-assisted wheat breeding and enhancing genetic diversity in the wheat cultivars.

  9. ABO alleles are linked with haplotypes of an erythroid cell-specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination.

    Science.gov (United States)

    Nakajima, T; Sano, R; Takahashi, Y; Watanabe, K; Kubo, R; Kobayashi, M; Takahashi, K; Takeshita, H; Kominato, Y

    2016-01-01

    Recent investigation of transcriptional regulation of the ABO genes has identified a candidate erythroid cell-specific regulatory element, named the +5·8-kb site, in the first intron of ABO. Six haplotypes of the site have been reported previously. The present genetic population study demonstrated that each haplotype was mostly linked with specific ABO alleles with a few exceptions, possibly as a result of hybrid formation between common ABO alleles. Thus, investigation of these haplotypes could provide a clue to further elucidation of ABO alleles. © 2015 International Society of Blood Transfusion.

  10. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

    NARCIS (Netherlands)

    Cousminer, Diana L.; Berry, Diane J.; Timpson, Nicholas J.; Ang, Wei; Thiering, Elisabeth; Byrne, Enda M.; Taal, H. Rob; Huikari, Ville; Bradfield, Jonathan P.; Kerkhof, Marjan; Groen-Blokhuis, Maria M.; Kreiner-Moller, Eskil; Marinelli, Marcella; Holst, Claus; Leinonen, Jaakko T.; Perry, John R. B.; Surakka, Ida; Pietilainen, Olli; Kettunen, Johannes; Anttila, Verneri; Kaakinen, Marika; Sovio, Ulla; Pouta, Anneli; Das, Shikta; Lagou, Vasiliki; Power, Chris; Prokopenko, Inga; Evans, David M.; Kemp, John P.; St Pourcain, Beate; Ring, Susan; Palotie, Aarno; Kajantie, Eero; Osmond, Clive; Lehtimaki, Terho; Viikari, Jorma S.; Kahonen, Mika; Warrington, Nicole M.; Lye, Stephen J.; Palmer, Lyle J.; Tiesler, Carla M. T.; Flexeder, Claudia; Montgomery, Grant W.; Medland, Sarah E.; Hofman, Albert; Hakonarson, Hakon; Guxens, Monica; Bartels, Meike; Salomaa, Veikko; Koppelman, Gerard H.

    2013-01-01

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and

  11. Time dependent genetic analysis links field and controlled environment phenotypes in the model C4 grass Setaria.

    Directory of Open Access Journals (Sweden)

    Max J Feldman

    2017-06-01

    Full Text Available Vertical growth of plants is a dynamic process that is influenced by genetic and environmental factors and has a pronounced effect on overall plant architecture and biomass composition. We have performed six controlled growth trials of an interspecific Setaria italica x Setaria viridis recombinant inbred line population to assess how the genetic architecture of plant height is influenced by developmental queues, water availability and planting density. The non-destructive nature of plant height measurements has enabled us to monitor height throughout the plant life cycle in both field and controlled environments. We find that plant height is reduced under water limitation and high density planting and affected by growth environment (field vs. growth chamber. The results support a model where plant height is a heritable, polygenic trait and that the major genetic loci that influence plant height function independent of growth environment. The identity and contribution of loci that influence height changes dynamically throughout development and the reduction of growth observed in water limited environments is a consequence of delayed progression through the genetic program which establishes plant height in Setaria. In this population, alleles inherited from the weedy S. viridis parent act to increase plant height early, whereas a larger number of small effect alleles inherited from the domesticated S. italica parent collectively act to increase plant height later in development.

  12. Time dependent genetic analysis links field and controlled environment phenotypes in the model C4 grass Setaria.

    Science.gov (United States)

    Feldman, Max J; Paul, Rachel E; Banan, Darshi; Barrett, Jennifer F; Sebastian, Jose; Yee, Muh-Ching; Jiang, Hui; Lipka, Alexander E; Brutnell, Thomas P; Dinneny, José R; Leakey, Andrew D B; Baxter, Ivan

    2017-06-01

    Vertical growth of plants is a dynamic process that is influenced by genetic and environmental factors and has a pronounced effect on overall plant architecture and biomass composition. We have performed six controlled growth trials of an interspecific Setaria italica x Setaria viridis recombinant inbred line population to assess how the genetic architecture of plant height is influenced by developmental queues, water availability and planting density. The non-destructive nature of plant height measurements has enabled us to monitor height throughout the plant life cycle in both field and controlled environments. We find that plant height is reduced under water limitation and high density planting and affected by growth environment (field vs. growth chamber). The results support a model where plant height is a heritable, polygenic trait and that the major genetic loci that influence plant height function independent of growth environment. The identity and contribution of loci that influence height changes dynamically throughout development and the reduction of growth observed in water limited environments is a consequence of delayed progression through the genetic program which establishes plant height in Setaria. In this population, alleles inherited from the weedy S. viridis parent act to increase plant height early, whereas a larger number of small effect alleles inherited from the domesticated S. italica parent collectively act to increase plant height later in development.

  13. Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data.

    Science.gov (United States)

    Fan, Jean; Lee, Hae-Ock; Lee, Soohyun; Ryu, Da-Eun; Lee, Semin; Xue, Catherine; Kim, Seok Jin; Kim, Kihyun; Barkas, Nikolas; Park, Peter J; Park, Woong-Yang; Kharchenko, Peter V

    2018-06-13

    Characterization of intratumoral heterogeneity is critical to cancer therapy, as presence of phenotypically diverse cell populations commonly fuels relapse and resistance to treatment. Although genetic variation is a well-studied source of intratumoral heterogeneity, the functional impact of most genetic alterations remains unclear. Even less understood is the relative importance of other factors influencing heterogeneity, such as epigenetic state or tumor microenvironment. To investigate the relationship between genetic and transcriptional heterogeneity in a context of cancer progression, we devised a computational approach called HoneyBADGER to identify copy number variation and loss-of-heterozygosity in individual cells from single-cell RNA-sequencing data. By integrating allele and normalized expression information, HoneyBADGER is able to identify and infer the presence of subclone-specific alterations in individual cells and reconstruct underlying subclonal architecture. Examining several tumor types, we show that HoneyBADGER is effective at identifying deletion, amplifications, and copy-neutral loss-of-heterozygosity events, and is capable of robustly identifying subclonal focal alterations as small as 10 megabases. We further apply HoneyBADGER to analyze single cells from a progressive multiple myeloma patient to identify major genetic subclones that exhibit distinct transcriptional signatures relevant to cancer progression. Surprisingly, other prominent transcriptional subpopulations within these tumors did not line up with the genetic subclonal structure, and were likely driven by alternative, non-clonal mechanisms. These results highlight the need for integrative analysis to understand the molecular and phenotypic heterogeneity in cancer. Published by Cold Spring Harbor Laboratory Press.

  14. Expectations and experiences of gamete donors and donor-conceived adults searching for genetic relatives using DNA linking through a voluntary register.

    Science.gov (United States)

    van den Akker, O B A; Crawshaw, M A; Blyth, E D; Frith, L J

    2015-01-01

    What are the experiences of donor-conceived adults and donors who are searching for a genetic link through the use of a DNA-based voluntary register service? Donor-conceived adults and donors held positive beliefs about their search and although some concerns in relation to finding a genetically linked relative were reported, these were not a barrier to searching. Research with donor-conceived people has consistently identified their interest in learning about-and in some cases making contact with-their donor and other genetic relatives. However, donor-conceived individuals or donors rarely have the opportunity to act on these desires. A questionnaire was administered for online completion using Bristol Online Surveys. The survey was live for 3 months and responses were collected anonymously. The survey was completed by 65 donor-conceived adults, 21 sperm donors and 5 oocyte donors who had registered with a DNA-based voluntary contact register in the UK. The questionnaire included socio-demographic questions, questions specifically developed for the purposes of this study and the standardized Aspects of Identity Questionnaire (AIQ). Motivations for searching for genetic relatives were varied, with the most common reasons being curiosity and passing on information. Overall, participants who were already linked and those awaiting a link were positive about being linked and valued access to a DNA-based register. Collective identity (reflecting self-defining feelings of continuity and uniqueness), as assessed by the AIQ, was significantly lower for donor-conceived adults when compared with the donor groups (P 0.05) for donor-conceived adults. Participants were members of a UK DNA-based registry which is unique. It was therefore not possible to determine how representative participants were of those who did not register for the service, those in other countries or of those who do not seek information exchange or contact. This is the first survey exploring the

  15. Preschoolers’ Genetic, Physiological, and Behavioral Sensitivity Factors Moderate Links Between Parenting Stress and Child Internalizing, Externalizing, and Sleep Problems

    Science.gov (United States)

    Davis, Molly; Thomassin, Kristel; Bilms, Joanie; Suveg, Cynthia; Shaffer, Anne; Beach, Steven R. H.

    2017-01-01

    This study examined three potential moderators of the relations between maternal parenting stress and preschoolers’ adjustment problems: a genetic polymorphism - the short allele of the serotonin transporter (5-HTTLPR, ss/sl allele) gene, a physiological indicator - children’s baseline respiratory sinus arrhythmia (RSA), and a behavioral indicator - mothers’ reports of children’s negative emotionality. A total of 108 mothers (Mage = 30.68 years, SDage = 6.06) reported on their parenting stress as well as their preschoolers’ (Mage = 3.50 years, SDage = .51, 61% boys) negative emotionality and internalizing, externalizing, and sleep problems. Results indicated that the genetic sensitivity variable functioned according to a differential susceptibility model; however, the results involving physiological and behavioral sensitivity factors were most consistent with a diathesis-stress framework. Implications for prevention and intervention efforts to counter the effects of parenting stress are discussed. PMID:28295263

  16. Low genetic variation in the MHC class II DRB gene and MHC-linked microsatellites in endangered island populations of the leopard cat (Prionailurus bengalensis) in Japan.

    Science.gov (United States)

    Saka, Toshinori; Nishita, Yoshinori; Masuda, Ryuichi

    2018-02-01

    Isolated populations of the leopard cat (Prionailurus bengalensis) on Tsushima and Iriomote islands in Japan are classified as subspecies P. b. euptilurus and P. b. iriomotensis, respectively. Because both populations have decreased to roughly 100, an understanding of their genetic diversity is essential for conservation. We genotyped MHC class II DRB exon 2 and MHC-linked microsatellite loci to evaluate the diversity of MHC genes in the Tsushima and Iriomote cat populations. We detected ten and four DRB alleles in these populations, respectively. A phylogenetic analysis showed DRB alleles from both populations to be closely related to those in other felid DRB lineages, indicating trans-species polymorphism. The MHC-linked microsatellites were more polymorphic in the Tsushima than in the Iriomote population. The MHC diversity of both leopard cat populations is much lower than in the domestic cat populations on these islands, probably due to inbreeding associated with founder effects, geographical isolation, or genetic drift. Our results predict low resistance of the two endangered populations to new pathogens introduced to the islands.

  17. Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

    Directory of Open Access Journals (Sweden)

    Anni eRichter

    2014-08-01

    Full Text Available Motivational salience plays an important role in shaping human behavior, but recent studies demonstrate that human performance is not uniformly improved by motivation. Instead, action has been shown to dominate valence in motivated tasks, and it is particularly difficult for humans to learn the inhibition of an action to obtain a reward, but the neural mechanism behind this behavioral specificity is yet unclear. In all mammals, including humans, the monoamine neurotransmitter dopamine is particularly important in the neural manifestation of appetitively motivated behavior, and the human dopamine system is subject to considerable genetic variability. The well-studied TaqIA restriction fragment length polymorphism (rs1800497 has previously been shown to affect striatal dopamine metabolism. In this study we investigated a potential effect of this genetic variation on motivated action/inhibition learning. Two independent cohorts consisting of 87 and 95 healthy participants, respectively, were tested using the previously described valenced go/no-go learning paradigm in which participants learned the reward-associated no-go condition significantly worse than all other conditions. This effect was modulated by the TaqIA polymorphism, with carriers of the A1 allele showing a diminished learning-related performance enhancement in the rewarded no-go condition compared to the A2 homozygotes. This result highlights a modulatory role for genetic variability of the dopaminergic system in individual learning differences of action-valence interaction.

  18. Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model.

    Science.gov (United States)

    Mottron, Laurent; Belleville, Sylvie; Rouleau, Guy A; Collignon, Olivier

    2014-11-01

    The phenotype of autism involves heterogeneous adaptive traits (strengths vs. disabilities), different domains of alterations (social vs. non-social), and various associated genetic conditions (syndromic vs. nonsyndromic autism). Three observations suggest that alterations in experience-dependent plasticity are an etiological factor in autism: (1) the main cognitive domains enhanced in autism are controlled by the most plastic cortical brain regions, the multimodal association cortices; (2) autism and sensory deprivation share several features of cortical and functional reorganization; and (3) genetic mutations and/or environmental insults involved in autism all appear to affect developmental synaptic plasticity, and mostly lead to its upregulation. We present the Trigger-Threshold-Target (TTT) model of autism to organize these findings. In this model, genetic mutations trigger brain reorganization in individuals with a low plasticity threshold, mostly within regions sensitive to cortical reallocations. These changes account for the cognitive enhancements and reduced social expertise associated with autism. Enhanced but normal plasticity may underlie non-syndromic autism, whereas syndromic autism may occur when a triggering mutation or event produces an altered plastic reaction, also resulting in intellectual disability and dysmorphism in addition to autism. Differences in the target of brain reorganization (perceptual vs. language regions) account for the main autistic subgroups. In light of this model, future research should investigate how individual and sex-related differences in synaptic/regional brain plasticity influence the occurrence of autism. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  19. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  20. Characterization of the Genetic Program Linked to the Development of Atrial Fibrillation in CREM-IbΔC-X Mice.

    Science.gov (United States)

    Seidl, Matthias D; Stein, Juliane; Hamer, Sabine; Pluteanu, Florentina; Scholz, Beatrix; Wardelmann, Eva; Huge, Andreas; Witten, Anika; Stoll, Monika; Hammer, Elke; Völker, Uwe; Müller, Frank U

    2017-08-01

    Reduced expression of genes regulated by the transcription factors CREB/CREM (cAMP response element-binding protein/modulator) is linked to atrial fibrillation (AF) susceptibility in patients. Cardiomyocyte-directed expression of the inhibitory CREM isoform CREM-IbΔC-X in transgenic mice (TG) leads to spontaneous-onset AF preceded by atrial dilatation and conduction abnormalities. Here, we characterized the altered gene program linked to atrial remodeling and development of AF in CREM-TG mice. Atria of young (TGy, before AF onset) and old (TGo, after AF onset) TG mice were investigated by mRNA microarray profiling in comparison with age-matched wild-type controls (WTy/WTo). Proteomic alterations were profiled in young mice (8 TGy versus 8 WTy). Annotation of differentially expressed genes revealed distinct differences in biological functions and pathways before and after onset of AF. Alterations in metabolic pathways, some linked to altered peroxisome proliferator-activated receptor signaling, muscle contraction, and ion transport were already present in TGy. Electron microscopy revealed significant loss of sarcomeres and mitochondria and increased collagen and glycogen deposition in TG mice. Alterations in electrophysiological pathways became prominent in TGo, concomitant with altered gene expression of K + -channel subunits and ion channel modulators, relevant in human AF. The most prominent alterations of the gene program linked to CREM-induced atrial remodeling were identified in the expression of genes related to structure, metabolism, contractility, and electric activity regulation, suggesting that CREM transgenic mice are a valuable experimental model for human AF pathophysiology. © 2017 American Heart Association, Inc.

  1. Preschoolers' genetic, physiological, and behavioral sensitivity factors moderate links between parenting stress and child internalizing, externalizing, and sleep problems.

    Science.gov (United States)

    Davis, Molly; Thomassin, Kristel; Bilms, Joanie; Suveg, Cynthia; Shaffer, Anne; Beach, Steven R H

    2017-05-01

    This study examined three potential moderators of the relations between maternal parenting stress and preschoolers' adjustment problems: a genetic polymorphism-the short allele of the serotonin transporter (5-HTTLPR, ss/sl allele) gene, a physiological indicator-children's baseline respiratory sinus arrhythmia (RSA), and a behavioral indicator-mothers' reports of children's negative emotionality. A total of 108 mothers (M age  = 30.68 years, SD age  = 6.06) reported on their parenting stress as well as their preschoolers' (M age  = 3.50 years, SD age  = 0.51, 61% boys) negative emotionality and internalizing, externalizing, and sleep problems. Results indicated that the genetic sensitivity variable functioned according to a differential susceptibility model; however, the results involving physiological and behavioral sensitivity factors were most consistent with a diathesis-stress framework. Implications for prevention and intervention efforts to counter the effects of parenting stress are discussed. © 2017 Wiley Periodicals, Inc.

  2. Central composite design and genetic algorithm applied for the optimization of ultrasonic-assisted removal of malachite green by ZnO Nanorod-loaded activated carbon

    Science.gov (United States)

    Ghaedi, M.; Azad, F. Nasiri; Dashtian, K.; Hajati, S.; Goudarzi, A.; Soylak, M.

    2016-10-01

    Maximum malachite green (MG) adsorption onto ZnO Nanorod-loaded activated carbon (ZnO-NR-AC) was achieved following the optimization of conditions, while the mass transfer was accelerated by ultrasonic. The central composite design (CCD) and genetic algorithm (GA) were used to estimate the effect of individual variables and their mutual interactions on the MG adsorption as response and to optimize the adsorption process. The ZnO-NR-AC surface morphology and its properties were identified via FESEM, XRD and FTIR. The adsorption equilibrium isotherm and kinetic models investigation revealed the well fit of the experimental data to Langmuir isotherm and pseudo-second-order kinetic model, respectively. It was shown that a small amount of ZnO-NR-AC (with adsorption capacity of 20 mg g- 1) is sufficient for the rapid removal of high amount of MG dye in short time (3.99 min).

  3. An 'integrative neuroscience' perspective on ADHD: linking cognition, emotion, brain and genetic measures with implications for clinical support.

    Science.gov (United States)

    Williams, Leanne M; Tsang, Tracey W; Clarke, Simon; Kohn, Michael

    2010-10-01

    There remains a translational gap between research findings and their implementation in clinical practice that applies to attention-deficit/hyperactivity disorder (ADHD), as well as to other major disorders of brain health in childhood, adolescence and adulthood. Research studies have identified potential 'markers' to support diagnostic, functional assessment and treatment decisions, but there is little consensus about these markers. Of these potential markers, cognitive measures of thinking functions, such as sustaining attention and associated electrical brain activity, show promise in complementing the clinical management process. Emerging evidence highlights the relevance of emotional, as well as thinking, functions to ADHD. Here, we outline an integrative neuroscience framework for ADHD that offers one means to bring together cognitive measures of thinking functions with measures of emotion, and their brain and genetic correlates. Understanding these measures and the relationships between them is a first step towards the development of tools that will help to assess the heterogeneity of ADHD, and aid in tailoring treatment choices.

  4. Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.

    Science.gov (United States)

    Barik, Mayadhar; Mishra, Pravash R; Mohapatra, Ashok Kumar

    2018-01-01

    Split cord malformation (SCM) is associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings, we attempt to document the origin of split cord, and vertebral fusions involvement of spectrum of genes is necessary to know better the etiopathogenesis of SCM and its associated diseases. We used the various databases such as PubMed/MEDLINE, Cochrane Review, Hinari, and Google Scholar for the recently published medical literature. The women had been living and still born infants had SCM. The relative risk (RR) and possible molecular mechanism are described details of major genes and its variants in details. Although molecular genetics involvement including with recent advances of study add an evidence of both Mendelian and Non-Mendelian fashion is discussed with all genetic components. We mentioned our earlier experience and responsibility of SCM and its associated diseases. Although different mechanisms are suggested for the development of SCM observed in our experience, there is a midline lesion bisecting the neuroepithelium and the notochordal plate, which is responsible for complete splitting of the cervical cord with anterior bony defect. The localized disturbance of cervical neural tube closure accounts for SCM with partial dorsal splitting of the cord with posterior vertebral defect and associated diseases. According to the best of our knowledge, this report is the first one to be documented by wider spectrum of variants from (experimental studies to human subject). This add a complex interaction of mutant variants drive toward an additional second-hit alterations for the SCM. The up-to-date information, documented in proper order, derived the bench-to-bedside approach to overcome this burden of SCM, which is globally noticed with other additional diseases.

  5. Watershed model calibration framework developed using an influence coefficient algorithm and a genetic algorithm and analysis of pollutant discharge characteristics and load reduction in a TMDL planning area.

    Science.gov (United States)

    Cho, Jae Heon; Lee, Jong Ho

    2015-11-01

    Manual calibration is common in rainfall-runoff model applications. However, rainfall-runoff models include several complicated parameters; thus, significant time and effort are required to manually calibrate the parameters individually and repeatedly. Automatic calibration has relative merit regarding time efficiency and objectivity but shortcomings regarding understanding indigenous processes in the basin. In this study, a watershed model calibration framework was developed using an influence coefficient algorithm and genetic algorithm (WMCIG) to automatically calibrate the distributed models. The optimization problem used to minimize the sum of squares of the normalized residuals of the observed and predicted values was solved using a genetic algorithm (GA). The final model parameters were determined from the iteration with the smallest sum of squares of the normalized residuals of all iterations. The WMCIG was applied to a Gomakwoncheon watershed located in an area that presents a total maximum daily load (TMDL) in Korea. The proportion of urbanized area in this watershed is low, and the diffuse pollution loads of nutrients such as phosphorus are greater than the point-source pollution loads because of the concentration of rainfall that occurs during the summer. The pollution discharges from the watershed were estimated for each land-use type, and the seasonal variations of the pollution loads were analyzed. Consecutive flow measurement gauges have not been installed in this area, and it is difficult to survey the flow and water quality in this area during the frequent heavy rainfall that occurs during the wet season. The Hydrological Simulation Program-Fortran (HSPF) model was used to calculate the runoff flow and water quality in this basin. Using the water quality results, a load duration curve was constructed for the basin, the exceedance frequency of the water quality standard was calculated for each hydrologic condition class, and the percent reduction

  6. DNA methylation links genetics, fetal environment, and an unhealthy lifestyle to the development of type 2 diabetes.

    Science.gov (United States)

    Nilsson, Emma; Ling, Charlotte

    2017-01-01

    Type 2 diabetes is a complex trait with both environmental and hereditary factors contributing to the overall pathogenesis. One link between genes, environment, and disease is epigenetics influencing gene transcription and, consequently, organ function. Genome-wide studies have shown altered DNA methylation in tissues important for glucose homeostasis including pancreas, liver, skeletal muscle, and adipose tissue from subjects with type 2 diabetes compared with nondiabetic controls. Factors predisposing for type 2 diabetes including an adverse intrauterine environment, increasing age, overweight, physical inactivity, a family history of the disease, and an unhealthy diet have all shown to affect the DNA methylation pattern in target tissues for insulin resistance in humans. Epigenetics including DNA methylation may therefore improve our understanding of the type 2 diabetes pathogenesis, contribute to development of novel treatments, and be a useful tool to identify individuals at risk for developing the disease.

  7. Prediction of crack growth direction by Strain Energy Sih's Theory on specimens SEN under tension-compression biaxial loading employing Genetic Algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Rodriguez-MartInez R; Lugo-Gonzalez E; Urriolagoitia-Calderon G; Urriolagoitia-Sosa G; Hernandez-Gomez L H; Romero-Angeles B; Torres-San Miguel Ch, E-mail: rrodriguezm@ipn.mx, E-mail: urrio332@hotmail.com, E-mail: guiurri@hotmail.com, E-mail: luishector56@hotmail.com, E-mail: romerobeatriz98@hotmail.com, E-mail: napor@hotmail.com [INSTITUTO POLITECNICO NACIONAL Seccion de Estudios de Posgrado e Investigacion (SEPI), Escuela Superior de Ingenieria Mecanica y Electrica (ESIME), Edificio 5. 2do Piso, Unidad Profesional Adolfo Lopez Mateos ' Zacatenco' Col. Lindavista, C.P. 07738, Mexico, D.F. (Mexico)

    2011-07-19

    Crack growth direction has been studied in many ways. Particularly Sih's strain energy theory predicts that a fracture under a three-dimensional state of stress spreads in direction of the minimum strain energy density. In this work a study for angle of fracture growth was made, considering a biaxial stress state at the crack tip on SEN specimens. The stress state applied on a tension-compression SEN specimen is biaxial one on crack tip, as it can observed in figure 1. A solution method proposed to obtain a mathematical model considering genetic algorithms, which have demonstrated great capacity for the solution of many engineering problems. From the model given by Sih one can deduce the density of strain energy stored for unit of volume at the crack tip as dW = [1/2E({sigma}{sup 2}{sub x} + {sigma}{sup 2}{sub y}) - {nu}/E({sigma}{sub x}{sigma}{sub y})]dV (1). From equation (1) a mathematical deduction to solve in terms of {theta} of this case was developed employing Genetic Algorithms, where {theta} is a crack propagation direction in plane x-y. Steel and aluminium mechanical properties to modelled specimens were employed, because they are two of materials but used in engineering design. Obtained results show stable zones of fracture propagation but only in a range of applied loading.

  8. Prediction of crack growth direction by Strain Energy Sih's Theory on specimens SEN under tension-compression biaxial loading employing Genetic Algorithms

    International Nuclear Information System (INIS)

    Rodriguez-MartInez R; Lugo-Gonzalez E; Urriolagoitia-Calderon G; Urriolagoitia-Sosa G; Hernandez-Gomez L H; Romero-Angeles B; Torres-San Miguel Ch

    2011-01-01

    Crack growth direction has been studied in many ways. Particularly Sih's strain energy theory predicts that a fracture under a three-dimensional state of stress spreads in direction of the minimum strain energy density. In this work a study for angle of fracture growth was made, considering a biaxial stress state at the crack tip on SEN specimens. The stress state applied on a tension-compression SEN specimen is biaxial one on crack tip, as it can observed in figure 1. A solution method proposed to obtain a mathematical model considering genetic algorithms, which have demonstrated great capacity for the solution of many engineering problems. From the model given by Sih one can deduce the density of strain energy stored for unit of volume at the crack tip as dW = [1/2E(σ 2 x + σ 2 y ) - ν/E(σ x σy)]dV (1). From equation (1) a mathematical deduction to solve in terms of θ of this case was developed employing Genetic Algorithms, where θ is a crack propagation direction in plane x-y. Steel and aluminium mechanical properties to modelled specimens were employed, because they are two of materials but used in engineering design. Obtained results show stable zones of fracture propagation but only in a range of applied loading.

  9. Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group

    Science.gov (United States)

    1988-01-01

    A linkage map of distal mouse chromosome 1 was generated using restriction fragment length polymorphism (RFLP) analysis of DNA prepared from 95 [C3H-gld/gld X Mus spretus)F1 X C3H-gld/gld] backcross mice. The gene order was: (centromere) C4bp, Ren-1,2, Ly-5, [At-3/gld], Apoa-2/Ly-17, Spna-1 (telomere). All mice expressing the phenotype of gld homozygotes were homozygous for the At-3 RFLP characteristic of C3H mice and none of the mice heterozygous for At-3 RFLPs had characteristics of gld homozygotes, demonstrating close linkage between these genes. The identification of an RFLP closely linked to the gld gene provides a starting point for the identification of a genetic defect that results in abnormal T cells and autoimmune disease. PMID:2894402

  10. Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Gedeon, A.K.; Connor, J.M.; Mulley, J.C. [Univ. of Adelaide (Australia); Connor, J.M. [Duncan Guthrie Inst. of Medical Genetics, Yorkhill (United Kingdom); Glass, I.A. [Univ. of California, San Franciso, CA (United States)

    1996-07-12

    A large family with non-specific X-linked mental retardation (MRX) was first described in 1991, with a suggestion of linkage to Xq26-27. The maximum lod score was 1.60 ({theta} = 0.10) with the F9 locus. The localization of this MRX gene has now been established by linkage to microsatellite markers. Peak pairwise lod scores of 4.02 and 4.01 ({theta} = 0.00) were attained at the DXS1114 and DXS994 loci respectively. This MRX gene is now designated MRX27 and is localized to Xq24-26 by recombination events detected by DXS424 and DXS102. This regional localization spans 26.2 cM on the genetic background map and defines another distinct MRX interval by linkage to a specific region of the X chromosome. 25 refs., 1 fig., 1 tab.

  11. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  12. Dynamic link: user's manual

    International Nuclear Information System (INIS)

    Harada, Hiroo; Asai, Kiyoshi; Kihara, Kazuhisa.

    1981-09-01

    The purpose of dynamic link facility is to link a load module dynamically only when it is used in execution time. The facility is very useful for development, execution and maintenance of a large scale computer program which is too big to be saved as one load module in main memory, or it is poor economy to save it due to many unused subroutines depending on an input. It is also useful for standardization and common utilization of programs. Standard usage of dynamic link facility of FACOM M-200 computer system, a software tool which analyzes the effect of dynamic link facility and application of dynamic link to nuclear codes are described. (author)

  13. Total maximum allocated load calculation of nitrogen pollutants by linking a 3D biogeochemical-hydrodynamic model with a programming model in Bohai Sea

    Science.gov (United States)

    Dai, Aiquan; Li, Keqiang; Ding, Dongsheng; Li, Yan; Liang, Shengkang; Li, Yanbin; Su, Ying; Wang, Xiulin

    2015-12-01

    The equal percent removal (EPR) method, in which pollutant reduction ratio was set as the same in all administrative regions, failed to satisfy the requirement for water quality improvement in the Bohai Sea. Such requirement was imposed by the developed Coastal Pollution Total Load Control Management. The total maximum allocated load (TMAL) of nitrogen pollutants in the sea-sink source regions (SSRs) around the Bohai Rim, which is the maximum pollutant load of every outlet under the limitation of water quality criteria, was estimated by optimization-simulation method (OSM) combined with loop approximation calculation. In OSM, water quality is simulated using a water quality model and pollutant load is calculated with a programming model. The effect of changes in pollutant loads on TMAL was discussed. Results showed that the TMAL of nitrogen pollutants in 34 SSRs was 1.49×105 ton/year. The highest TMAL was observed in summer, whereas the lowest in winter. TMAL was also higher in the Bohai Strait and central Bohai Sea and lower in the inner area of the Liaodong Bay, Bohai Bay and Laizhou Bay. In loop approximation calculation, the TMAL obtained was considered satisfactory for water quality criteria as fluctuation of concentration response matrix with pollutant loads was eliminated. Results of numerical experiment further showed that water quality improved faster and were more evident under TMAL input than that when using the EPR method

  14. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Cumulative socioeconomic status risk, allostatic load, and adjustment: a prospective latent profile analysis with contextual and genetic protective factors.

    Science.gov (United States)

    Brody, Gene H; Yu, Tianyi; Chen, Yi-fu; Kogan, Steven M; Evans, Gary W; Beach, Steven R H; Windle, Michael; Simons, Ronald L; Gerrard, Meg; Gibbons, Frederick X; Philibert, Robert A

    2013-05-01

    The health disparities literature has identified a common pattern among middle-aged African Americans that includes high rates of chronic disease along with low rates of psychiatric disorders despite exposure to high levels of cumulative socioeconomic status (SES) risk. The current study was designed to test hypotheses about the developmental precursors to this pattern. Hypotheses were tested with a representative sample of 443 African American youths living in the rural South. Cumulative SES risk and protective processes were assessed at ages 11-13 years; psychological adjustment was assessed at ages 14-18 years; genotyping at the 5-HTTLPR was conducted at age 16 years; and allostatic load (AL) was assessed at age 19 years. A latent profile analysis identified 5 profiles that evinced distinct patterns of SES risk, AL, and psychological adjustment, with 2 relatively large profiles designated as focal profiles: a physical health vulnerability profile characterized by high SES risk/high AL/low adjustment problems, and a resilient profile characterized by high SES risk/low AL/low adjustment problems. The physical health vulnerability profile mirrored the pattern found in the adult health disparities literature. Multinomial logistic regression analyses indicated that carrying an s allele at the 5-HTTLPR and receiving less peer support distinguished the physical health vulnerability profile from the resilient profile. Protective parenting and planful self-regulation distinguished both focal profiles from the other 3 profiles. The results suggest the public health importance of preventive interventions that enhance coping and reduce the effects of stress across childhood and adolescence.

  16. A genetic link between magnetite mineralization and diorite intrusion at the El Romeral iron oxide-apatite deposit, northern Chile

    Science.gov (United States)

    Rojas, Paula A.; Barra, Fernando; Reich, Martin; Deditius, Artur; Simon, Adam; Uribe, Francisco; Romero, Rurik; Rojo, Mario

    2018-01-01

    El Romeral is one of the largest iron oxide-apatite (IOA) deposits in the Coastal Cordillera of northern Chile. The Cerro Principal magnetite ore body at El Romeral comprises massive magnetite intergrown with actinolite, with minor apatite, scapolite, and sulfides (pyrite ± chalcopyrite). Several generations of magnetite were identified by using a combination of optical and electron microscopy techniques. The main mineralization event is represented by zoned magnetite grains with inclusion-rich cores and inclusion-poor rims, which form the massive magnetite ore body. This main magnetite stage was followed by two late hydrothermal events that are represented by magnetite veinlets that crosscut the massive ore body and by disseminated magnetite in the andesite host rock and in the Romeral diorite. The sulfur stable isotope signature of the late hydrothermal sulfides indicates a magmatic origin for sulfur (δ34S between - 0.8 and 2.9‰), in agreement with previous δ34S data reported for other Chilean IOA and iron oxide-copper-gold deposits. New 40Ar/39Ar dating of actinolite associated with the main magnetite ore stage yielded ages of ca. 128 Ma, concordant within error with a U-Pb zircon age for the Romeral diorite (129.0 ± 0.9 Ma; mean square weighted deviation = 1.9, n = 28). The late hydrothermal magnetite-biotite mineralization is constrained at ca. 118 Ma by 40Ar/39Ar dating of secondary biotite. This potassic alteration is about 10 Ma younger than the main mineralization episode, and it may be related to post-mineralization dikes that crosscut and remobilize Fe from the main magnetite ore body. These data reveal a clear genetic association between magnetite ore formation, sulfide mineralization, and the diorite intrusion at El Romeral (at 129 Ma), followed by a late and more restricted stage of hydrothermal alteration associated with the emplacement of post-ore dikes at ca. 118 Ma. Therefore, this new evidence supports a magmatic-hydrothermal model for the

  17. Genetics Coupled to Quantitative Intact Proteomics Links Heritable Aphid and Endosymbiont Protein Expression to Circulative Polerovirus Transmission▿ †

    Science.gov (United States)

    Cilia, M.; Tamborindeguy, C.; Fish, T.; Howe, K.; Thannhauser, T. W.; Gray, S.

    2011-01-01

    Yellow dwarf viruses in the family Luteoviridae, which are the causal agents of yellow dwarf disease in cereal crops, are each transmitted most efficiently by different species of aphids in a circulative manner that requires the virus to interact with a multitude of aphid proteins. Aphid proteins differentially expressed in F2 Schizaphis graminum genotypes segregating for the ability to transmit Cereal yellow dwarf virus-RPV (CYDV-RPV) were identified using two-dimensional difference gel electrophoresis (DIGE) coupled to either matrix-assisted laser desorption ionization-tandem mass spectrometry or online nanoscale liquid chromatography coupled to electrospray tandem mass spectrometry. A total of 50 protein spots, containing aphid proteins and proteins from the aphid's obligate and maternally inherited bacterial endosymbiont, Buchnera, were identified as differentially expressed between transmission-competent and refractive aphids. Surprisingly, in virus transmission-competent F2 genotypes, the isoelectric points of the Buchnera proteins did not match those in the maternal Buchnera proteome as expected, but instead they aligned with the Buchnera proteome of the transmission-competent paternal parent. Among the aphid proteins identified, many were involved in energy metabolism, membrane trafficking, lipid signaling, and the cytoskeleton. At least eight aphid proteins were expressed as heritable, isoelectric point isoform pairs, one derived from each parental lineage. In the F2 genotypes, the expression of aphid protein isoforms derived from the competent parental lineage aligned with the virus transmission phenotype with high precision. Thus, these isoforms are candidate biomarkers for CYDV-RPV transmission in S. graminum. Our combined genetic and DIGE approach also made it possible to predict where several of the proteins may be expressed in refractive aphids with different barriers to transmission. Twelve proteins were predicted to act in the hindgut of the aphid

  18. Genetics coupled to quantitative intact proteomics links heritable aphid and endosymbiont protein expression to circulative polerovirus transmission.

    Science.gov (United States)

    Cilia, M; Tamborindeguy, C; Fish, T; Howe, K; Thannhauser, T W; Gray, S

    2011-03-01

    Yellow dwarf viruses in the family Luteoviridae, which are the causal agents of yellow dwarf disease in cereal crops, are each transmitted most efficiently by different species of aphids in a circulative manner that requires the virus to interact with a multitude of aphid proteins. Aphid proteins differentially expressed in F2 Schizaphis graminum genotypes segregating for the ability to transmit Cereal yellow dwarf virus-RPV (CYDV-RPV) were identified using two-dimensional difference gel electrophoresis (DIGE) coupled to either matrix-assisted laser desorption ionization-tandem mass spectrometry or online nanoscale liquid chromatography coupled to electrospray tandem mass spectrometry. A total of 50 protein spots, containing aphid proteins and proteins from the aphid's obligate and maternally inherited bacterial endosymbiont, Buchnera, were identified as differentially expressed between transmission-competent and refractive aphids. Surprisingly, in virus transmission-competent F2 genotypes, the isoelectric points of the Buchnera proteins did not match those in the maternal Buchnera proteome as expected, but instead they aligned with the Buchnera proteome of the transmission-competent paternal parent. Among the aphid proteins identified, many were involved in energy metabolism, membrane trafficking, lipid signaling, and the cytoskeleton. At least eight aphid proteins were expressed as heritable, isoelectric point isoform pairs, one derived from each parental lineage. In the F2 genotypes, the expression of aphid protein isoforms derived from the competent parental lineage aligned with the virus transmission phenotype with high precision. Thus, these isoforms are candidate biomarkers for CYDV-RPV transmission in S. graminum. Our combined genetic and DIGE approach also made it possible to predict where several of the proteins may be expressed in refractive aphids with different barriers to transmission. Twelve proteins were predicted to act in the hindgut of the aphid

  19. The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17

    Directory of Open Access Journals (Sweden)

    Anna Kowalska

    2009-06-01

    Full Text Available Frontotemporal dementia (FTD, characterized by neurodegeneration mainly in the frontal and temporal lobes, accounts for ca. 10–15�0of all dementias. In 1892 the Czech-German neuropsychiatrist Arnold Pick reported the first case of FTD in a 71-year-old patient suffering from progressive dementia, memory disturbances, and aphasia associated with frontal and temporal lobe atrophy and the presence of neuronal inclusions. Later the inclusions were named Pick bodies. The neuropathological hallmark of FTD is very differentiated. In contrast to Alzheimer’s disease (AD, there are neither senile plaques nor neurofibrillary tangles in the brains of FTD patients. Frontotemporal dementias are tauopathies, a group of disorders caused by aberrant metabolism of tau protein, a family of proteins associated with microtubules (MAPT: macrotubule-associated tau protein. In the nervous system the protein stabilizes microtubules in neuronal axons and is thus responsible for crucial processes in neuron metabolism, such as signal transduction, plasticity, and intracellular transport. In the human brain, six isoforms are produced from the MAPT gene (chromosome 17 q21.2 by alternative mRNA splicing. The isoforms differ in the number of amino acids in the protein chain, the presence of three (3R tau type or four (4R tau type domains responsible for binding to microtubules, and one or two inserts containing from 29 to 58 amino acids. The isoforms are modified posttranslationally by hyperphosphorylation, glycation, or oxidation, which can change the protein’s properties and disturb its normal function. Altered metabolism of tau protein changes its interactions with tubulin, leading to destabilization of the microtubule structure and initiating the generation of toxic tau aggregates. The first mutations in the MAPT gene responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17 were found in 1998. So far over 40 mutations in the MAPT

  20. The incidence of genetic disorders in children and young adults

    International Nuclear Information System (INIS)

    Anderson, T.W.; Baird, P.A.; Lowry, R.B.; Newcombe, H.B.

    1987-11-01

    Current estimates of the genetic risks from exposure to ionizing radiation are based on two kinds of data: a) incidence rates in humans for the genetic diseases that are believed to be present in the population due to mutations of natural origin, and b) radiation induced mutation rates. One necessary prerequisite before any possible increase in genetic load from mutagens can be estimated is baseline information on the magnitude of genetically-caused ill health already present in the population. The present study utilizes the data base of an ongoing population-based Registry with multiple sources of ascertainment to estimate the present population load from genetic disease. It was found that 4.9% of liveborn individuals below 25 can be expected to have genetic or partly genetic diseases. This was composed of single-gene disorders (autosomal dominant, autosomal recessive and X-linked recessive), chromosomal anomalies and multifactorial disorders (including those present at birth and those later in onset). Since previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, data are also presented separately for this category to facilitate comparison with earlier studies. These new data should represent a better estimate of the genetic load in the population than previous studies

  1. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

    Directory of Open Access Journals (Sweden)

    Abigail T Fahim

    Full Text Available Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP, characterized by retinal degeneration and eventual blindness. The clinical consequences of RPGR mutations are highly varied, even among individuals with the same mutation: males demonstrate a wide range of clinical severity, and female carriers may or may not be affected. This study describes the phenotypic diversity in a cohort of 98 affected males from 56 families with RPGR mutations, and demonstrates the contribution of genetic factors (i.e., allelic heterogeneity and genetic modifiers to this diversity. Patients were categorized as grade 1 (mild, 2 (moderate or 3 (severe according to specific clinical criteria. Patient DNAs were genotyped for coding SNPs in 4 candidate modifier genes with products known to interact with RPGR protein: RPGRIP1, RPGRIP1L, CEP290, and IQCB1. Family-based association testing was performed using PLINK. A wide range of clinical severity was observed both between and within families. Patients with mutations in exons 1-14 were more severely affected than those with ORF15 mutations, and patients with predicted null alleles were more severely affected than those predicted to make RPGR protein. Two SNPs showed association with severe disease: the minor allele (N of I393N in IQCB1 (p = 0.044 and the common allele (R of R744Q in RPGRIP1L (p = 0.049. These data demonstrate that allelic heterogeneity contributes to phenotypic diversity in XlRP and suggest that this may depend on the presence or absence of RPGR protein. In addition, common variants in 2 proteins known to interact with RPGR are associated with severe disease in this cohort.

  2. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  3. Using threshold regression to analyze survival data from complex surveys: With application to mortality linked NHANES III Phase II genetic data.

    Science.gov (United States)

    Li, Yan; Xiao, Tao; Liao, Dandan; Lee, Mei-Ling Ting

    2018-03-30

    The Cox proportional hazards (PH) model is a common statistical technique used for analyzing time-to-event data. The assumption of PH, however, is not always appropriate in real applications. In cases where the assumption is not tenable, threshold regression (TR) and other survival methods, which do not require the PH assumption, are available and widely used. These alternative methods generally assume that the study data constitute simple random samples. In particular, TR has not been studied in the setting of complex surveys that involve (1) differential selection probabilities of study subjects and (2) intracluster correlations induced by multistage cluster sampling. In this paper, we extend TR procedures to account for complex sampling designs. The pseudo-maximum likelihood estimation technique is applied to estimate the TR model parameters. Computationally efficient Taylor linearization variance estimators that consider both the intracluster correlation and the differential selection probabilities are developed. The proposed methods are evaluated by using simulation experiments with various complex designs and illustrated empirically by using mortality-linked Third National Health and Nutrition Examination Survey Phase II genetic data. Copyright © 2017 John Wiley & Sons, Ltd.

  4. mtDNA from the early Bronze Age to the Roman period suggests a genetic link between the Indian subcontinent and Mesopotamian cradle of civilization.

    Directory of Open Access Journals (Sweden)

    Henryk W Witas

    Full Text Available Ancient DNA methodology was applied to analyse sequences extracted from freshly unearthed remains (teeth of 4 individuals deeply deposited in slightly alkaline soil of the Tell Ashara (ancient Terqa and Tell Masaikh (ancient Kar-Assurnasirpal Syrian archaeological sites, both in the middle Euphrates valley. Dated to the period between 2.5 Kyrs BC and 0.5 Kyrs AD the studied individuals carried mtDNA haplotypes corresponding to the M4b1, M49 and/or M61 haplogroups, which are believed to have arisen in the area of the Indian subcontinent during the Upper Paleolithic and are absent in people living today in Syria. However, they are present in people inhabiting today's Tibet, Himalayas, India and Pakistan. We anticipate that the analysed remains from Mesopotamia belonged to people with genetic affinity to the Indian subcontinent since the distribution of identified ancient haplotypes indicates solid link with populations from the region of South Asia-Tibet (Trans-Himalaya. They may have been descendants of migrants from much earlier times, spreading the clades of the macrohaplogroup M throughout Eurasia and founding regional Mesopotamian groups like that of Terqa or just merchants moving along trade routes passing near or through the region. None of the successfully identified nuclear alleles turned out to be ΔF508 CFTR, LCT-13910T or Δ32 CCR5.

  5. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

    Science.gov (United States)

    Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

    2017-07-19

    Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

  6. Inclusive Fitness Affects Both Prosocial and Antisocial Behavior: Target Gender and Insult Domain Moderate the Link between Genetic Relatedness and Aggression

    Directory of Open Access Journals (Sweden)

    Amanda N. Gesselman

    2012-10-01

    Full Text Available Although prior research has examined the relationship between genetic relatedness and helping behavior (Burnstein, Crandall, and Kitayama, 1994, less is known about its role in aggressive responses to insults (Fitzgerald and Ketterer, 2011. Drawing on inclusive fitness theory (Hamilton, 1964 and the Kinship, Acceptance, and Rejection Model of Altruism and Aggression (KARMAA; Webster, 2008; Webster et al., 2012, we designed a 2 (participant gender × 2 (target gender × 2 (insult: status vs. reproductive × 3 (relatedness: stranger vs. cousin vs. sibling between-person experiment in which 489 participants (a read vignettes in which a stranger, cousin, or sibling was insulted and (b reported their emotional reaction and retaliation likelihood (six-item α= .91 in response to the insult. Consistent with theory and prior research, men were significantly more aggressive than women, and people were significantly more aggressive responding to insults against kin than non-kin. These findings support theoretically-derived, dynamic, and domain-specific links among insults, gender, relatedness, and aggression.

  7. Genetics and mapping of the R₁₁ gene conferring resistance to recently emerged rust races, tightly linked to male fertility restoration, in sunflower (Helianthus annuus L.).

    Science.gov (United States)

    Qi, L L; Seiler, G J; Vick, B A; Gulya, T J

    2012-09-01

    Sunflower oil is one of the major sources of edible oil. As the second largest hybrid crop in the world, hybrid sunflowers are developed by using the PET1 cytoplasmic male sterility system that contributes to a 20 % yield advantage over the open-pollinated varieties. However, sunflower production in North America has recently been threatened by the evolution of new virulent pathotypes of sunflower rust caused by the fungus Puccinia helianthi Schwein. Rf ANN-1742, an 'HA 89' backcross restorer line derived from wild annual sunflower (Helianthus annuus L.), was identified as resistant to the newly emerged rust races. The aim of this study was to elucidate the inheritance of rust resistance and male fertility restoration and identify the chromosome location of the underlying genes in Rf ANN-1742. Chi-squared analysis of the segregation of rust response and male fertility in F(2) and F(3) populations revealed that both traits are controlled by single dominant genes, and that the rust resistance gene is closely linked to the restorer gene in the coupling phase. The two genes were designated as R ( 11 ) and Rf5, respectively. A set of 723 mapped SSR markers of sunflower was used to screen the polymorphism between HA 89 and the resistant plant. Bulked segregant analysis subsequently located R ( 11 ) on linkage group (LG) 13 of sunflower. Based on the SSR analyses of 192 F(2) individuals, R ( 11 ) and Rf5 both mapped to the lower end of LG13 at a genetic distance of 1.6 cM, and shared a common marker, ORS728, which was mapped 1.3 cM proximal to Rf5 and 0.3 cM distal to R ( 11 ) (Rf5/ORS728/R ( 11 )). Two additional SSRs were linked to Rf5 and R ( 11 ): ORS995 was 4.5 cM distal to Rf5 and ORS45 was 1.0 cM proximal to R ( 11 ). The advantage of such an introduced alien segment harboring two genes is its large phenotypic effect and simple inheritance, thereby facilitating their rapid deployment in sunflower breeding programs. Suppressed recombination was observed in LGs 2, 9

  8. Cognitive Load and Cooperation

    DEFF Research Database (Denmark)

    Døssing, Felix Sebastian; Piovesan, Marco; Wengström, Erik Roland

    2017-01-01

    We study the effect of intuitive and reflective processes on cooperation using cognitive load. Compared with time constraint, which has been used in the previous literature, cognitive load is a more direct way to block reflective processes, and thus a more suitable way to study the link between...... intuition and cooperation. Using a repeated public goods game, we study the effect of different levels of cognitive load on contributions. We show that a higher cognitive load increases the initial level of cooperation. In particular, subjects are significantly less likely to fully free ride under high...... cognitive load....

  9. Ethanol mediated As(III) adsorption onto Zn-loaded pinecone biochar: Experimental investigation, modeling, and optimization using hybrid artificial neural network-genetic algorithm approach.

    Science.gov (United States)

    Zafar, Mohd; Van Vinh, N; Behera, Shishir Kumar; Park, Hung-Suck

    2017-04-01

    Organic matters (OMs) and their oxidization products often influence the fate and transport of heavy metals in the subsurface aqueous systems through interaction with the mineral surfaces. This study investigates the ethanol (EtOH)-mediated As(III) adsorption onto Zn-loaded pinecone (PC) biochar through batch experiments conducted under Box-Behnken design. The effect of EtOH on As(III) adsorption mechanism was quantitatively elucidated by fitting the experimental data using artificial neural network and quadratic modeling approaches. The quadratic model could describe the limiting nature of EtOH and pH on As(III) adsorption, whereas neural network revealed the stronger influence of EtOH (64.5%) followed by pH (20.75%) and As(III) concentration (14.75%) on the adsorption phenomena. Besides, the interaction among process variables indicated that EtOH enhances As(III) adsorption over a pH range of 2 to 7, possibly due to facilitation of ligand-metal(Zn) binding complexation mechanism. Eventually, hybrid response surface model-genetic algorithm (RSM-GA) approach predicted a better optimal solution than RSM, i.e., the adsorptive removal of As(III) (10.47μg/g) is facilitated at 30.22mg C/L of EtOH with initial As(III) concentration of 196.77μg/L at pH5.8. The implication of this investigation might help in understanding the application of biochar for removal of various As(III) species in the presence of OM. Copyright © 2016. Published by Elsevier B.V.

  10. A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes.

    Directory of Open Access Journals (Sweden)

    Heshan Peiris

    2016-05-01

    Full Text Available Type 2 diabetes (T2D is a complex metabolic disease associated with obesity, insulin resistance and hypoinsulinemia due to pancreatic β-cell dysfunction. Reduced mitochondrial function is thought to be central to β-cell dysfunction. Mitochondrial dysfunction and reduced insulin secretion are also observed in β-cells of humans with the most common human genetic disorder, Down syndrome (DS, Trisomy 21. To identify regions of chromosome 21 that may be associated with perturbed glucose homeostasis we profiled the glycaemic status of different DS mouse models. The Ts65Dn and Dp16 DS mouse lines were hyperglycemic, while Tc1 and Ts1Rhr mice were not, providing us with a region of chromosome 21 containing genes that cause hyperglycemia. We then examined whether any of these genes were upregulated in a set of ~5,000 gene expression changes we had identified in a large gene expression analysis of human T2D β-cells. This approach produced a single gene, RCAN1, as a candidate gene linking hyperglycemia and functional changes in T2D β-cells. Further investigations demonstrated that RCAN1 methylation is reduced in human T2D islets at multiple sites, correlating with increased expression. RCAN1 protein expression was also increased in db/db mouse islets and in human and mouse islets exposed to high glucose. Mice overexpressing RCAN1 had reduced in vivo glucose-stimulated insulin secretion and their β-cells displayed mitochondrial dysfunction including hyperpolarised membrane potential, reduced oxidative phosphorylation and low ATP production. This lack of β-cell ATP had functional consequences by negatively affecting both glucose-stimulated membrane depolarisation and ATP-dependent insulin granule exocytosis. Thus, from amongst the myriad of gene expression changes occurring in T2D β-cells where we had little knowledge of which changes cause β-cell dysfunction, we applied a trisomy 21 screening approach which linked RCAN1 to β-cell mitochondrial

  11. Multi-proxy evidence of long-term changes in ecosystem structure in a Danish marine estuary, linked to increased nutrient loading

    DEFF Research Database (Denmark)

    Ellegaard, Marianne; Clarke, A.L.; Reuss, Nina Steenberg

    2006-01-01

    This paper presents a study of changes in eutrophication over the past 100 years in a fertile estuary. The Danish estuary Mariager Fjord is a long, narrow sill-fjord with a permanently anoxic basin. In 1997 anoxia spread from the basin to the entire inner estuary, killing almost all eukaryotes...... and prompting debate on the causes. This paper reports a multi-proxy survey of 210Pb-dated sediment cores from the anoxic basin. Analyses of diatoms, dinoflagellates, pigments and geochemical proxies were used to determine changes in ecosystem structure over the past 100 years. The aim was to establish ‘base...... and natural isotopes (d13C, d15N) suggested increasing production and nutrient loading. The main changes in the biological proxies occurred between 1915 and the 1940s, and indicated that the estuary has been somewhat eutrophic since 1900, but that the eutrophication process increased over the past 100 years...

  12. Multi-proxy evidence of long-term changes in ecosystem structure in a Danish marine estuary, linked to increased nutrient loading

    DEFF Research Database (Denmark)

    Ellegaard, Marianne; Clarke, A.L.; Reuss, Nina Steenberg

    2006-01-01

    and prompting debate on the causes. This paper reports a multi-proxy survey of 210Pb-dated sediment cores from the anoxic basin. Analyses of diatoms, dinoflagellates, pigments and geochemical proxies were used to determine changes in ecosystem structure over the past 100 years. The aim was to establish ‘base......-line conditions', for management purposes, of the biological structure prior to 1900, and to examine possible causes of changes observed. Geochemical proxies total nitrogen (TN), total carbon (TC) and biogenic silica (BSi) were consistently high throughout the sediment record. Increased concentrations of pigments...... and natural isotopes (d13C, d15N) suggested increasing production and nutrient loading. The main changes in the biological proxies occurred between 1915 and the 1940s, and indicated that the estuary has been somewhat eutrophic since 1900, but that the eutrophication process increased over the past 100 years...

  13. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  14. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  15. Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA).

    Science.gov (United States)

    Vardarajan, Badri N; Faber, Kelley M; Bird, Thomas D; Bennett, David A; Rosenberg, Roger; Boeve, Bradley F; Graff-Radford, Neill R; Goate, Alison M; Farlow, Martin; Sweet, Robert A; Lantigua, Rafael; Medrano, Martin Z; Ottman, Ruth; Schaid, Daniel J; Foroud, Tatiana M; Mayeux, Richard

    2014-03-01

    Late-onset Alzheimer disease (LOAD), defined as onset of symptoms after age 65 years, is the most common form of dementia. Few reports investigate incidence rates in large family-based studies in which the participants were selected for family history of LOAD. To determine the incidence rates of dementia and LOAD in unaffected members in the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) family studies. Families with 2 or more affected siblings who had a clinical or pathological diagnosis of LOAD were recruited as a part of the NIA-LOAD/NCRAD Family Study. A cohort of Caribbean Hispanics with familial LOAD was recruited in a different study at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain in New York and from clinics in the Dominican Republic as part of the EFIGA study. Age-specific incidence rates of LOAD were estimated in the unaffected family members in the NIA-LOAD/NCRAD and EFIGA data sets. We restricted analyses to families with follow-up and complete phenotype information, including 396 NIA-LOAD/NCRAD and 242 EFIGA families. Among the 943 at-risk family members in the NIA-LOAD/NCRAD families, 126 (13.4%) developed dementia, of whom 109 (86.5%) met criteria for LOAD. Among 683 at-risk family members in the EFIGA families, 174 (25.5%) developed dementia during the study period, of whom 145 (83.3%) had LOAD. The annual incidence rates of dementia and LOAD in the NIA-LOAD/NCRAD families per person-year were 0.03 and 0.03, respectively, in participants aged 65 to 74 years; 0.07 and 0.06, respectively, in those aged 75 to 84 years; and 0.08 and 0.07, respectively, in those 85 years or older. Incidence rates in the EFIGA families were slightly higher, at 0.03 and 0.02, 0.06 and 0.05, 0.10 and 0.08, and 0.10 and 0.07, respectively, in the same age groups. Contrasting these

  16. Genetically based location from triploid populations and gene ontology of a 3.3-mb genome region linked to Alternaria brown spot resistance in citrus reveal clusters of resistance genes.

    Directory of Open Access Journals (Sweden)

    José Cuenca

    Full Text Available Genetic analysis of phenotypical traits and marker-trait association in polyploid species is generally considered as a challenge. In the present work, different approaches were combined taking advantage of the particular genetic structures of 2n gametes resulting from second division restitution (SDR to map a genome region linked to Alternaria brown spot (ABS resistance in triploid citrus progeny. ABS in citrus is a serious disease caused by the tangerine pathotype of the fungus Alternaria alternata. This pathogen produces ACT-toxin, which induces necrotic lesions on fruit and young leaves, defoliation and fruit drop in susceptible genotypes. It is a strong concern for triploid breeding programs aiming to produce seedless mandarin cultivars. The monolocus dominant inheritance of susceptibility, proposed on the basis of diploid population studies, was corroborated in triploid progeny. Bulk segregant analysis coupled with genome scan using a large set of genetically mapped SNP markers and targeted genetic mapping by half tetrad analysis, using SSR and SNP markers, allowed locating a 3.3 Mb genomic region linked to ABS resistance near the centromere of chromosome III. Clusters of resistance genes were identified by gene ontology analysis of this genomic region. Some of these genes are good candidates to control the dominant susceptibility to the ACT-toxin. SSR and SNP markers were developed for efficient early marker-assisted selection of ABS resistant hybrids.

  17. Genetically based location from triploid populations and gene ontology of a 3.3-mb genome region linked to Alternaria brown spot resistance in citrus reveal clusters of resistance genes.

    Science.gov (United States)

    Cuenca, José; Aleza, Pablo; Vicent, Antonio; Brunel, Dominique; Ollitrault, Patrick; Navarro, Luis

    2013-01-01

    Genetic analysis of phenotypical traits and marker-trait association in polyploid species is generally considered as a challenge. In the present work, different approaches were combined taking advantage of the particular genetic structures of 2n gametes resulting from second division restitution (SDR) to map a genome region linked to Alternaria brown spot (ABS) resistance in triploid citrus progeny. ABS in citrus is a serious disease caused by the tangerine pathotype of the fungus Alternaria alternata. This pathogen produces ACT-toxin, which induces necrotic lesions on fruit and young leaves, defoliation and fruit drop in susceptible genotypes. It is a strong concern for triploid breeding programs aiming to produce seedless mandarin cultivars. The monolocus dominant inheritance of susceptibility, proposed on the basis of diploid population studies, was corroborated in triploid progeny. Bulk segregant analysis coupled with genome scan using a large set of genetically mapped SNP markers and targeted genetic mapping by half tetrad analysis, using SSR and SNP markers, allowed locating a 3.3 Mb genomic region linked to ABS resistance near the centromere of chromosome III. Clusters of resistance genes were identified by gene ontology analysis of this genomic region. Some of these genes are good candidates to control the dominant susceptibility to the ACT-toxin. SSR and SNP markers were developed for efficient early marker-assisted selection of ABS resistant hybrids.

  18. A genetic polymorphism in the sex-linked ATP5A1 gene is associated with individual fitness in Ovenbirds (Seiurus aurocapilla)

    Science.gov (United States)

    Judith D. Toms; Lori S. Eggert; Wayne J. Arendt; John Faaborg

    2012-01-01

    While testing genetic sexing techniques in Ovenbirds (Seiurus aurocapilla),we found a genetic polymorphism in the ATP5A1 gene in 38% of individuals. The Z ' allele included changes in both intronic and exonic portions of the sequenced region, but there was no evidence that this changed the resulting ATP synthase product. Males that had one or more copies of...

  19. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  20. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  1. Genetic algorithms used for PWRs refuel management automatic optimization: a new modelling

    International Nuclear Information System (INIS)

    Chapot, Jorge Luiz C.; Schirru, Roberto; Silva, Fernando Carvalho da

    1996-01-01

    A Genetic Algorithms-based system, linking the computer codes GENESIS 5.0 and ANC through the interface ALGER, has been developed aiming the PWRs fuel management optimization. An innovative codification, the Lists Model, has been incorporated to the genetic system, which avoids the use of variants of the standard crossover operator and generates only valid loading patterns in the core. The GENESIS/ALGER/ANC system has been successfully tested in an optimization study for Angra-1 second cycle. (author)

  2. Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis

    International Nuclear Information System (INIS)

    Klinger, K.W.; Winqvist, R.; Riccio, A.

    1987-01-01

    The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAI1) was determined by three independent methods of gene mapping. PAI1 was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAI1 cDNA probe and in situ hybridization, respectively. The authors frequent HindIII restriction fragment length polymorphism (RFLP) of the PAI1 gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAI1 and the loci for erythropoietin (EPO), paraoxonase (PON), the met protooncogene (MET), and cystic fibrosis (CF), all previously assigned to the middle part of the long arm of chromosome 7. The linkage with EPO was closest with an estimated genetic distance of 3 centimorgans, whereas that to CF was 20 centimorgans. A three-point genetic linkage analysis and data from previous studies showed that the most likely order of these loci is EPO, PAI1, PON, (MET, CF), with PAI1 being located centromeric to CF. The PAI1 RFLP may prove to be valuable in ordering genetic markers in the CF-linkage group and may also be valuable in genetic analysis of plasminogen activation-related diseases, such as certain thromboembolic disorders and cancer

  3. Determining resistance to mastitis in a bovine subject comprises detecting the presence or absence of a genetic marker that is linked to a trait indicative of mastitis resistance

    DEFF Research Database (Denmark)

    2007-01-01

    The invention relates to a method for determining mastitis resistance in bovine subjects, wherein mastitis resistance comprise resistance to both sub-clinical and clinical mastitis. In particular, the method of the invention involves identification of genetic markers and/or Quantitative Trait Locus...... (QTL) for the determination of mastitis resistance in a bovine subject. The determination of mastitis resistance involves resolution of the specific microsatellite status. Furthermore, the invention relates to a diagnostic kit for detection of genetic marker(s) associated with mastitis resistance....... The method and kit of the present invention can be applied for selection of bovine subjects for breeding purposes. Thus, the invention provides a method of genetically selecting bovine subjects with mastitis resistance, thereby yielding cows less prone to mastitis...

  4. Effects of genetic selection for milk yield on energy balance, levels of hormones, and metabolites in lactating cattle, and possible links to reduced fertility

    NARCIS (Netherlands)

    Veerkamp, R.F.; Beerda, B.; Lende, van der T.

    2003-01-01

    Selection for a higher milk yield increases metabolic load via a higher yield per se and/or via physiological processes that facilitate milk yield, and it is difficult to differentiate between these two. Here, we aim to identify important pathways that contribute to the reduction in fertility

  5. Developing a survey instrument to assess the readiness of primary care data, genetic and disease registries to conduct linked research: TRANSFoRm International Research Readiness (TIRRE survey instrument

    Directory of Open Access Journals (Sweden)

    Emily Leppenwell

    2013-05-01

    Full Text Available Background Clinical data are collected for routine care in family practice; there are also a growing number of genetic and cancer registry data repositories. The Translational Research and Patient Safety in Europe (TRANSFoRm project seeks to facilitate research using linked data from more than one source. We performed a requirements analysis which identified a wide range of data and business process requirements that need to be met before linking primary care and either genetic or disease registry data.Objectives To develop a survey to assess the readiness of data repositories to participate in linked research – the Transform International Research Readiness (TIRRE survey.Method We develop the questionnaire based on our requirement analysis; with questions at micro-, meso- and macro levels of granularity, study-specific questions about diabetes and gastro-oesophageal reflux disease (GORD, and research track record. The scope of the data required was extensive. We piloted this instrument, conducting ten preliminary telephone interviews to evaluate the response to the questionnaire.Results Using feedback gained from these interviews we revised the questionnaire; clarifying questions that were difficult to answer and utilising skip logic to create different series of questions for the various types of data repository. We simplified the questionnaire replacing free-text responses with yes/no or picking list options, wherever possible. We placed the final questionnaire online and encouraged its use (www.clininf.eu/jointirre/info.html.Conclusion Limited field testing suggests that TIRRE is capable of collecting comprehensive and relevant data about the suitability and readiness of data repositories to participate in linked data research.

  6. The genetics of green thorax, a new larval colour mutant, non-linked with ruby - eye locus in the malaria mosquito, Anopheles stephensi.

    Science.gov (United States)

    Sanil, D; Shetty, N J

    2009-06-01

    Anopheles stephensi, an important vector of malaria continues to be distributed widely in the Indian subcontinent. The natural vigour of the species combined with its new tolerance, indeed resistance to insecticides has made it obligatory that we look for control methods involving genetic manipulation. Hence, there is an immediate need for greater understanding of the genetics of this vector species. One of the requirements for such genetic studies is the establishment of naturally occurring mutants, establishment of the genetic basis for the same and use of such mutants in the genetic transformation studies and other genetic control programme(s). This paper describes the isolation and genetic studies of a larval colour mutant, green thorax (gt), and linkage studies involving another autosomal recessive mutant ruby- eye (ru) in An. stephensi. After the initial discovery, the mutant green thorax was crossed inter se and pure homozygous stock of the mutant was established. The stock of the mutant ruby- eye, which has been maintained as a pure stock in the laboratory. Crosses were made between the wild type and mutant, green thorax to determine the mode of inheritance of green thorax. For linkage studies, crosses were made between the mutant green thorax and another autosomal recessive mutant ruby-eye. The percentage cross-over was calculated for the genes linkage relationship for gt and gt ru. Results of crosses between mutant and wild type showed that the inheritance of green thorax (gt) in An. stephensi is monofactorial in nature. The gt allele is recessive to wild type and is autosomal. The linkage studies showed no linkage between ru and gt. The mutant gt represents an excellent marker for An. stephensi as it is expressed in late III instar stage of larvae and is prominent in IV instar and pupal stages with complete penetrance and high viability. The said mutant could be easily identified without the aid of a microscope. This mutant can be used extensively to

  7. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... increases brain viral load and activates natural killer cells in simian immunodeficiency ... out with friends? It’s a topic you can’t ignore. Learn the Link: http://1.usa.gov/ ...

  8. Negative self-referential processing is associated with genetic variation in the serotonin transporter-linked polymorphic region (5-HTTLPR): Evidence from two independent studies.

    Science.gov (United States)

    Dainer-Best, Justin; Disner, Seth G; McGeary, John E; Hamilton, Bethany J; Beevers, Christopher G

    2018-01-01

    The current research examined whether carriers of the short 5-HTTLPR allele (in SLC6A4), who have been shown to selectively attend to negative information, exhibit a bias towards negative self-referent processing. The self-referent encoding task (SRET) was used to measure self-referential processing of positive and negative adjectives. Ratcliff's diffusion model isolated and extracted decision-making components from SRET responses and reaction times. Across the initial (N = 183) and replication (N = 137) studies, results indicated that short 5-HTTLPR allele carriers more easily categorized negative adjectives as self-referential (i.e., higher drift rate). Further, drift rate was associated with recall of negative self-referential stimuli. Findings across both studies provide further evidence that genetic variation may contribute to the etiology of negatively biased processing of self-referent information. Large scale studies examining the genetic contributions to negative self-referent processing may be warranted.

  9. The Region of Difference Four is a Robust Genetic Marker for Subtyping Mycobacterium caprae Isolates and is Linked to Spatial Distribution of Three Subtypes.

    Science.gov (United States)

    Rettinger, A; Broeckl, S; Fink, M; Prodinger, W M; Blum, H; Krebs, S; Domogalla, J; Just, F; Gellert, S; Straubinger, R K; Büttner, M

    2017-06-01

    Alpine Mycobacterium caprae isolates found in cattle and red deer display at least three genetic variations in the region of difference four (RD4) that can be used for further differentiation of the isolates into the subtypes 'Allgäu', 'Karwendel' and 'Lechtal'. Each genomic subtype is thereby characterized by a specific nucleotide deletion pattern in the 12.7-kb RD4 region. Even though M. caprae infections are frequently documented in cattle and red deer, little is known about the transmission routes. Hence, robust markers for M. caprae subtyping are needed to gain insight into the molecular epidemiology. For this reason, a rapid and robust multiplex PCR was developed for the simultaneous detection of three M. caprae RD4 subtypes and was used to subtype a total number of 241 M. caprae isolates from animals (145 cattle, 95 red deer and one fox) from Bavaria and Austria. All three subtypes occur spatially distributed and are found in cattle and in red deer suggesting transmission between the two species. As subtypes are genetically stable in both species it is hypothesized that the described genetic variations developed within the host due to 'within-host replication'. The results of this study recommend the genomic RD4 region as a reliable diagnostic marker for M. caprae subtype differentiation. © 2015 Blackwell Verlag GmbH.

  10. Cryptic relatedness in epidemiologic collections accessed for genetic association studies: experiences from the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study and the National Health and Nutrition Examination Surveys (NHANES).

    Science.gov (United States)

    Malinowski, Jennifer; Goodloe, Robert; Brown-Gentry, Kristin; Crawford, Dana C

    2015-01-01

    Epidemiologic collections have been a major resource for genotype-phenotype studies of complex disease given their large sample size, racial/ethnic diversity, and breadth and depth of phenotypes, traits, and exposures. A major disadvantage of these collections is they often survey households and communities without collecting extensive pedigree data. Failure to account for substantial relatedness can lead to inflated estimates and spurious associations. To examine the extent of cryptic relatedness in an epidemiologic collection, we as the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study accessed the National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples ("Genetic NHANES") from NHANES III and NHANES 1999-2002. NHANES are population-based cross-sectional surveys conducted by the National Center for Health Statistics at the Centers for Disease Control and Prevention. Genome-wide genetic data is not yet available in NHANES, and current data use agreements prohibit the generation of GWAS-level data in NHANES samples due issues in maintaining confidentiality among other ethical concerns. To date, only hundreds of single nucleotide polymorphisms (SNPs) genotyped in a variety of candidate genes are available for analysis in NHANES. We performed identity-by-descent (IBD) estimates in three self-identified subpopulations of Genetic NHANES (non-Hispanic white, non- Hispanic black, and Mexican American) using PLINK software to identify potential familial relationships from presumed unrelated subjects. We then compared the PLINKidentified relationships to those identified by an alternative method implemented in Kinship-based INference for Genome-wide association studies (KING). Overall, both methods identified familial relationships in NHANES III and NHANES 1999-2002 for all three subpopulations, but little concordance was observed between the two methods due in major part to the limited SNP data available in Genetic NHANES

  11. Inherent X-Linked Genetic Variability and Cellular Mosaicism Unique to Females Contribute to Sex-Related Differences in the Innate Immune Response

    Directory of Open Access Journals (Sweden)

    Zoltan Spolarics

    2017-11-01

    Full Text Available Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis. We describe the differences in X chromosome (ChrX regulation between males and females and its consequences in the context of common X-linked polymorphisms at the individual as well as population level. We also discuss the potential pathophysiological and immune-modulatory aspects of ChrX cellular mosaicism, which is unique to females and how this may contribute to sex-biased immune-modulation. The potential confounding effects of ChrX skewing of cell progenitors at the bone marrow is also presented together with aspects of acute trauma-induced de novo ChrX skewing at the periphery. In support of the hypothesis, novel observations indicating ChrX skewing in a female trauma cohort as well as case studies depicting the temporal relationship between trauma-induced cellular skewing and the clinical course are also described. Finally, we list and discuss a selected set of polymorphic X-linked genes, which are frequent in the population and have key regulatory or metabolic functions in the innate immune response and, therefore, are primary candidates for mediating sex-biased immune responses. We conclude that sex-related differences in a variety of disease processes including the innate inflammatory response to injury

  12. Enhanced immunoassay for porcine circovirus type 2 antibody using enzyme-loaded and quantum dots-embedded shell–core silica nanospheres based on enzyme-linked immunosorbent assay

    International Nuclear Information System (INIS)

    Wu, Long; Li, Xuepu; Shao, Kang; Ye, Shiyi; Liu, Chen; Zhang, Chenjun; Han, Heyou

    2015-01-01

    Boosting the detection sensitivity of enzyme-linked immunosorbent assay (ELISA) is significant to the early clinical diagnosis of various diseases. Here, we developed a versatile immunosensor using silica nanospheres as carriers for sensitive detection of porcine circovirus type 2 (PCV2) antibody. With HRP enzyme covalently immobilized on the silica nanospheres and CdSe nanocrystals embedded inside, these signal probes were successfully utilized in the sensitive detection of PCV2 antibody by ELISA, fluorometry and square-wave voltammetry (SWV). To further demonstrate the performance of the immunosensor, Human IgG (HIgG) was used as a model analyte. Since more HRP and CdSe QDs were loaded, 5-, 200- and 400-fold enhancements in amplified ELISA, fluorometry and voltammetry responses for HIgG could be achieved compared to conventional ELISA. The respective detection limits of theses methods for HIgG were 3.9, 0.1 and 0.05 ng mL −1 with a RSD below 5% for amplified ELISA, fluorescence and SWV measurements. Additionally, a 100-fold improvement was obtained in the detection sensitivity for PCV2 antibody immunoassay. The versatile immunosensor exhibits good sensitivity, stability and reproducibility, suggesting its potential applications in clinical diagnostics. - Highlights: • A versatile ELISA-based immunoassay for PCV2 antibody was developed. • Enzyme and CdSe QDs modified SiO 2 particles were used to improve sensitivity. • The simultaneous three ELISA-based techniques enhanced the detection reliability. • The biosensors strategy could provide a new avenue to ELISA-based sensors

  13. Enhanced immunoassay for porcine circovirus type 2 antibody using enzyme-loaded and quantum dots-embedded shell–core silica nanospheres based on enzyme-linked immunosorbent assay

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Long; Li, Xuepu; Shao, Kang; Ye, Shiyi; Liu, Chen; Zhang, Chenjun; Han, Heyou, E-mail: hyhan@mail.hzau.edu.cn

    2015-08-05

    Boosting the detection sensitivity of enzyme-linked immunosorbent assay (ELISA) is significant to the early clinical diagnosis of various diseases. Here, we developed a versatile immunosensor using silica nanospheres as carriers for sensitive detection of porcine circovirus type 2 (PCV2) antibody. With HRP enzyme covalently immobilized on the silica nanospheres and CdSe nanocrystals embedded inside, these signal probes were successfully utilized in the sensitive detection of PCV2 antibody by ELISA, fluorometry and square-wave voltammetry (SWV). To further demonstrate the performance of the immunosensor, Human IgG (HIgG) was used as a model analyte. Since more HRP and CdSe QDs were loaded, 5-, 200- and 400-fold enhancements in amplified ELISA, fluorometry and voltammetry responses for HIgG could be achieved compared to conventional ELISA. The respective detection limits of theses methods for HIgG were 3.9, 0.1 and 0.05 ng mL{sup −1} with a RSD below 5% for amplified ELISA, fluorescence and SWV measurements. Additionally, a 100-fold improvement was obtained in the detection sensitivity for PCV2 antibody immunoassay. The versatile immunosensor exhibits good sensitivity, stability and reproducibility, suggesting its potential applications in clinical diagnostics. - Highlights: • A versatile ELISA-based immunoassay for PCV2 antibody was developed. • Enzyme and CdSe QDs modified SiO{sub 2} particles were used to improve sensitivity. • The simultaneous three ELISA-based techniques enhanced the detection reliability. • The biosensors strategy could provide a new avenue to ELISA-based sensors.

  14. Combining noninvasive genetics and a new mammalian sex-linked marker provides new tools to investigate population size, structure and individual behaviour: An application to bats.

    Science.gov (United States)

    Zarzoso-Lacoste, Diane; Jan, Pierre-Loup; Lehnen, Lisa; Girard, Thomas; Besnard, Anne-Laure; Puechmaille, Sebastien J; Petit, Eric J

    2018-03-01

    Monitoring wild populations is crucial for their effective management. Noninvasive genetic methods provide robust data from individual free-ranging animals, which can be used in capture-mark-recapture (CMR) models to estimate demographic parameters without capturing or disturbing them. However, sex- and status-specific behaviour, which may lead to differences in detection probabilities, is rarely considered in monitoring. Here, we investigated population size, sex ratio, sex- and status-related behaviour in 19 Rhinolophus hipposideros maternity colonies (Northern France) with a noninvasive genetic CMR approach (using faeces) combined with parentage assignments. The use of the DDX3X/Y-Mam sexual marker designed in this study, which shows inter- and intrachromosomal length polymorphism across placental mammals, together with eight polymorphic microsatellite markers, produced high-quality genetic data with limited genotyping errors and allowed us to reliably distinguish different categories of individuals (males, reproductive and nonreproductive females) and to estimate population sizes. We showed that visual counts represent well-adult female numbers and that population composition in maternity colonies changes dynamically during the summer. Before parturition, colonies mainly harbour pregnant and nonpregnant females with a few visiting males, whereas after parturition, colonies are mainly composed of mothers and their offspring with a few visiting nonmothers and males. Our approach gives deeper insight into sex- and status-specific behaviour, a prerequisite for understanding population dynamics and developing effective monitoring and management strategies. Provided sufficient samples can be obtained, this approach can be readily applied to a wide range of species. © 2017 John Wiley & Sons Ltd.

  15. Do other people's plights matter? A genetically informed twin study of the role of social context in the link between peer victimization and children's aggression and depression symptoms.

    Science.gov (United States)

    Brendgen, Mara; Vitaro, Frank; Barker, Edward D; Girard, Alain; Dionne, Ginette; Tremblay, Richard E; Boivin, Michel

    2013-02-01

    Using a genetically informed design, this study examined the additive and interactive effects of genetic risk, personal peer victimization experiences, and peer victimization experienced by others on children's aggression and depression symptoms. Of major interest was whether these effects varied depending on whether or not the victimized others were children's close friends. The sample comprised 197 monozygotic and same-sex dizygotic twin pairs reared together (95 female pairs) assessed in Grade 4. Each twin's victimization experiences and victimization experienced by his or her friends and other classmates were measured using individuals' reports about their own levels of peer victimization. Aggression was assessed using peer nominations, and depression was measured using self-reports. Indicative of a possible social-learning mechanism or the emotional contagion of anger, multilevel regressions showed that personal victimization experiences were related to especially high levels of aggression when close friends where also highly victimized, albeit only in boys. Moreover, in line with social comparison theory, the effect of frequent personal victimization experiences on depressive feelings was much weaker when close friends were also highly victimized than when close friends were not or were only rarely victimized. Finally, a high level of peer victimization experienced by other classmates was related to a lower level of aggression in girls and boys, possibly because of a heightened sense of threat in classrooms where many suffer attacks from bullies. All of these results were independent of children's genetic risk for aggression or depression. Theoretical and practical implications are discussed. (c) 2013 APA, all rights reserved.

  16. Global genetic variation in the Asian citrus psyllid, Diaphorina citri (Hemiptera: Liviidae) and the endosymbiont Wolbachia: links between Iran and the USA detected.

    Science.gov (United States)

    Lashkari, Mohammadreza; Manzari, Shahab; Sahragard, Ahad; Malagnini, Valeria; Boykin, Laura M; Hosseini, Reza

    2014-07-01

    The Asian citrus psyllid, Diaphorina citri Kuwayama (Hemiptera: Liviidae), is one of the most serious pests of citrus in the world, because it transmits the pathogen that causes citrus greening disease. To determine genetic variation among geographic populations of D. citri, microsatellite markers, mitochondrial gene cytochrome oxidase I (mtCOI) and the Wolbachia-Diaphorina, wDi, gene wsp sequence data were used to characterize Iranian and Pakistani populations. Also, a Bayesian phylogenetic technique was utilized to elucidate the relationships among the sequences data in this study and all mtCOI and wsp sequence data available in GenBank and the Wolbachia database. Microsatellite markers revealed significant genetic differentiation among Iranian populations, as well as between Iranian and Pakistani populations (FST  = 0.0428, p citri populations in Iran, India, Saudi Arabia, Brazil, Mexico, Florida and Texas (USA) are similar. Wolbachia, wDi, wsp sequences were similar among Iranian populations, but different between Iranian and Pakistani populations. The South West Asia (SWA) group is the most likely source of the introduced Iranian populations of D. citri. This assertion is also supported by the sequence similarity of the Wolbachia, wDi, strains from the Florida, USA and Iranian D. citri. These results should be considered when looking for biological controls in either country. © 2013 Society of Chemical Industry.

  17. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  18. PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection

    DEFF Research Database (Denmark)

    Rembeck, Karolina; Maglio, Cristina; Lagging, Martin

    2012-01-01

    ABSTRACT: BACKGROUND: Hepatic steatosis in HCV patients has been postulated as a risk factor associated with a higher frequency of fibrosis and cirrhosis. A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis. Previous studies of the PNPLA3 I148M...... sequence variant in HCV infected individuals have reported an association between this variant and prevalence of steatosis, fibrosis, and cirrhosis. To evaluate the impact of PNPLA3 I148M variant on metabolic traits and treatment response in HCV genotype 2 and 3 infected patients. METHODS: Three hundred...

  19. Systematic genetic array analysis links the Saccharomyces cerevisiae SAGA/SLIK and NuA4 component Tra1 to multiple cellular processes

    Directory of Open Access Journals (Sweden)

    Andrews Brenda

    2008-07-01

    Full Text Available Abstract Background Tra1 is an essential 437-kDa component of the Saccharomyces cerevisiae SAGA/SLIK and NuA4 histone acetyltransferase complexes. It is a member of a group of key signaling molecules that share a carboxyl-terminal domain related to phosphatidylinositol-3-kinase but unlike many family members, it lacks kinase activity. To identify genetic interactions for TRA1 and provide insight into its function we have performed a systematic genetic array analysis (SGA on tra1SRR3413, an allele that is defective in transcriptional regulation. Results The SGA analysis revealed 114 synthetic slow growth/lethal (SSL interactions for tra1SRR3413. The interacting genes are involved in a range of cellular processes including gene expression, mitochondrial function, and membrane sorting/protein trafficking. In addition many of the genes have roles in the cellular response to stress. A hierarchal cluster analysis revealed that the pattern of SSL interactions for tra1SRR3413 most closely resembles deletions of a group of regulatory GTPases required for membrane sorting/protein trafficking. Consistent with a role for Tra1 in cellular stress, the tra1SRR3413 strain was sensitive to rapamycin. In addition, calcofluor white sensitivity of the strain was enhanced by the protein kinase inhibitor staurosporine, a phenotype shared with the Ada components of the SAGA/SLIK complex. Through analysis of a GFP-Tra1 fusion we show that Tra1 is principally localized to the nucleus. Conclusion We have demonstrated a genetic association of Tra1 with nuclear, mitochondrial and membrane processes. The identity of the SSL genes also connects Tra1 with cellular stress, a result confirmed by the sensitivity of the tra1SRR3413 strain to a variety of stress conditions. Based upon the nuclear localization of GFP-Tra1 and the finding that deletion of the Ada components of the SAGA complex result in similar phenotypes as tra1SRR3413, we suggest that the effects of tra1SRR3413

  20. Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study

    Science.gov (United States)

    Padmanabhan, Sandosh; Porteous, David J.; Burri, Andrea V.; Tanaka, Haruka; Williams, Frances M. K.

    2017-01-01

    Background Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors. Methods and findings We employed three different study designs in two independent cohorts, namely Generation Scotland and TwinsUK, having standardised, validated questionnaire data on the three traits of interest. First, we estimated the prevalence and co-occurrence of chronic pain, depression and angina among 24,024 participants of a population-based cohort of extended families (Generation Scotland: Scottish Family Health Study), adjusting for age, gender, education, smoking status, and deprivation. Secondly, we compared the odds of co-morbidity in sibling-pairs with the odds in unrelated individuals for the three conditions in the same cohort. Lastly, examination of similar traits in a sample of female twins (TwinsUK, n = 2,902), adjusting for age and BMI, allowed independent replication of the findings and exploration of the influence of additive genetic (A) factors and shared (C) and non-shared (E) environmental factors predisposing to co-occurring chronic widespread pain (CWP) and cardiovascular disease (hypertension, angina, stroke, heart attack, elevated cholesterol, angioplasty or bypass surgery). In the Generation Scotland cohort, individuals with depression were more than twice as likely to have chronic pain as those without depression (adjusted OR 2·64 [95% CI 2·34–2·97]); those with angina were four times more likely to have chronic pain (OR 4·19 [3·64–4·82]); those with depression were twice as likely to have angina

  1. Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study.

    Directory of Open Access Journals (Sweden)

    Oliver van Hecke

    Full Text Available Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013. They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors.We employed three different study designs in two independent cohorts, namely Generation Scotland and TwinsUK, having standardised, validated questionnaire data on the three traits of interest. First, we estimated the prevalence and co-occurrence of chronic pain, depression and angina among 24,024 participants of a population-based cohort of extended families (Generation Scotland: Scottish Family Health Study, adjusting for age, gender, education, smoking status, and deprivation. Secondly, we compared the odds of co-morbidity in sibling-pairs with the odds in unrelated individuals for the three conditions in the same cohort. Lastly, examination of similar traits in a sample of female twins (TwinsUK, n = 2,902, adjusting for age and BMI, allowed independent replication of the findings and exploration of the influence of additive genetic (A factors and shared (C and non-shared (E environmental factors predisposing to co-occurring chronic widespread pain (CWP and cardiovascular disease (hypertension, angina, stroke, heart attack, elevated cholesterol, angioplasty or bypass surgery. In the Generation Scotland cohort, individuals with depression were more than twice as likely to have chronic pain as those without depression (adjusted OR 2·64 [95% CI 2·34-2·97]; those with angina were four times more likely to have chronic pain (OR 4·19 [3·64-4·82]; those with depression were twice as likely to have angina (OR 2·20 [1·90-2·54

  2. Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

    Science.gov (United States)

    Ferfouri, Fatma; Bernicot, Izabel; Schneider, Anouck; Haquet, Emmanuelle; Hédon, Bernard; Anahory, Tal

    2016-04-01

    To examine if a balanced female embryo with X-autosome translocation could, during its subsequent development, express an abnormal phenotype. Preimplantation genetic diagnosis (PGD) analysis on two female carriers with maternal inherited X-autosome translocations. Infertility center and genetic laboratory in a public hospital. Two female patients carriers undergoing PGD for a balanced X-autosome translocations: patient 1 with 46,X,t(X;2)(q27;p15) and patient 2 with 46,X,t(X;22)(q28;q12.3). PGD for balanced X-autosome translocations. PGD outcomes, fluorescence in situ hybridization in biopsied embryos and meiotic segregation patterns analysis of embryos providing from X-autosome translocation carriers. Controlled ovarian stimulation facilitated retrieval of a correct number of oocytes. One balanced embryo per patient was transferred and one developed, but the patient miscarried after 6 weeks of amenorrhea. In X-autosome translocation carriers, balanced Y-bearing embryos are most often phenotypically normal and viable. An ambiguous phenotype exists in balanced X-bearing embryos owing to the X inactivation mechanism. In 46,XX embryos issued from an alternate segregation, der(X) may be inactivated and partially spread transcriptional silencing into a translocated autosomal segment. Thus, the structural unbalanced genotype could be turned into a viable functional balanced one. It is relevant that a discontinuous silencing is observed with a partial and unpredictable inactivation of autosomal regions. Consequently, the resulting phenotype remains a mystery and is considered to be at risk of being an abnormal phenotype in the field of PGD. It is necessary to be cautious regarding to PGD management for this type of translocation, particularly in transferred female embryos. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  3. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  4. Genetics Home Reference: Kleefstra syndrome

    Science.gov (United States)

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...

  5. Load forecasting

    International Nuclear Information System (INIS)

    Mak, H.

    1995-01-01

    Slides used in a presentation at The Power of Change Conference in Vancouver, BC in April 1995 about the changing needs for load forecasting were presented. Technological innovations and population increase were said to be the prime driving forces behind the changing needs in load forecasting. Structural changes, market place changes, electricity supply planning changes, and changes in planning objectives were other factors discussed. It was concluded that load forecasting was a form of information gathering, that provided important market intelligence

  6. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  7. Transcriptional analysis of abdominal fat in genetically fat and lean chickens reveals adipokines, lipogenic genes and a link between hemostasis and leanness

    Science.gov (United States)

    2013-01-01

    Background This descriptive study of the abdominal fat transcriptome takes advantage of two experimental lines of meat-type chickens (Gallus domesticus), which were selected over seven generations for a large difference in abdominal (visceral) fatness. At the age of selection (9 wk), the fat line (FL) and lean line (LL) chickens exhibit a 2.5-fold difference in abdominal fat weight, while their feed intake and body weight are similar. These unique avian models were originally created to unravel genetic and endocrine regulation of adiposity and lipogenesis in meat-type chickens. The Del-Mar 14K Chicken Integrated Systems microarray was used for a time-course analysis of gene expression in abdominal fat of FL and LL chickens during juvenile development (1–11 weeks of age). Results Microarray analysis of abdominal fat in FL and LL chickens revealed 131 differentially expressed (DE) genes (FDR≤0.05) as the main effect of genotype, 254 DE genes as an interaction of age and genotype and 3,195 DE genes (FDR≤0.01) as the main effect of age. The most notable discoveries in the abdominal fat transcriptome were higher expression of many genes involved in blood coagulation in the LL and up-regulation of numerous adipogenic and lipogenic genes in FL chickens. Many of these DE genes belong to pathways controlling the synthesis, metabolism and transport of lipids or endocrine signaling pathways activated by adipokines, retinoid and thyroid hormones. Conclusions The present study provides a dynamic view of differential gene transcription in abdominal fat of chickens genetically selected for fatness (FL) or leanness (LL). Remarkably, the LL chickens over-express a large number of hemostatic genes that could be involved in proteolytic processing of adipokines and endocrine factors, which contribute to their higher lipolysis and export of stored lipids. Some of these changes are already present at 1 week of age before the divergence in fatness. In contrast, the FL chickens have

  8. The preservation of the Agoudal impact crater, Morocco, under a landslide: Indication of a genetic link between shatter cones and meteorite fragments

    Science.gov (United States)

    Nachit, Hassane; Abia, El Hassan; Bonadiman, Costanza; Di Martino, Mario; Vaccaro, Carmela

    2017-10-01

    Geological studies and tomographic profiles of a locality nearby the Agoudal village (Morocco) showed the presence of a single impact crater, 500-600 m diameter, largely hidden by a limestone block, 220 m long and 40 m deep. The site was interpreted as a landslide that followed the fall of a cosmic body. The Agoudal impact crater was not affected by intense erosion. The lack of an evident impact structure, as well as the sporadic distribution of impactites and their limited occurrence, can be explained by a complex geological framework and by recent tectonics. The latter is the result of the sliding of limestone block, which hides almost two-thirds of the crater's depression, and the oblique fall of the meteoroid on sloping ground. In addition, some impact breccia dikes sharply cut the host rock in the Agoudal impact structure. They do not show any genetic relationship with tectonics or hydrothermal activity, nor are they related to any karst or calcrete formations. Altogether, the overlapping of the meteorite strewn field (11 km long and 3 km wide) with the area of occurrence of shatter cones and impact breccias, together with the presence of meteorite fragments (shrapnel) ejected from the crater, the presence of shatter cones contaminated by products of iron meteorites and the presence of impact breccias that contain meteorite fragments of the same chemical composition of the Agoudal meteorite indicate that the fall of this meteorite can be responsible for the formation of the impact structure.

  9. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  10. Genetics Home Reference: geleophysic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition geleophysic dwarfism Related Information How are genetic conditions and genes ... and Rare Diseases Information Center (1 link) Geleophysic dwarfism Educational Resources (8 links) American Heart Association: Atrial ...

  11. Operative Links

    DEFF Research Database (Denmark)

    Wistoft, Karen; Højlund, Holger

    2012-01-01

    educational goals, learning content, or value clarification. Health pedagogy is often a matter of retrospective rationalization rather than the starting point of planning. Health and risk behaviour approaches override health educational approaches. Conclusions: Operational links between health education......, health professionalism, and management strategies pose the foremost challenge. Operational links indicates cooperative levels that facilitate a creative and innovative effort across traditional professional boundaries. It is proposed that such links are supported by network structures, shared semantics...

  12. Up-regulation of mismatch repair genes MSH6, PMS2 and MLH1 parallels development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer.

    Science.gov (United States)

    Wilczak, Waldemar; Rashed, Semin; Hube-Magg, Claudia; Kluth, Martina; Simon, Ronald; Büscheck, Franziska; Clauditz, Till Sebastian; Grupp, Katharina; Minner, Sarah; Tsourlakis, Maria Christina; Möller-Koop, Christina; Graefen, Markus; Adam, Meike; Haese, Alexander; Wittmer, Corinna; Sauter, Guido; Izbicki, Jakob Robert; Huland, Hartwig; Schlomm, Thorsten; Steurer, Stefan; Krech, Till; Lebok, Patrick

    2017-01-01

    DNA mismatch repair (MMR) is integral to the maintenance of genetic stability. We aimed to evaluate the clinical impact of MMR gene expression in prostate cancer. The MMR genes MSH6, MLH1 and PMS2 were analyzed by immunohistochemistry on a tissue microarray containing 11152 prostate cancer specimens. Results were compared with ETS-related gene status and deletions of PTEN, 3p13, 5q21 and 6q15. MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers and was particularly strong in cancers with advanced pathological tumor stage (P < 0.0001 each), high Gleason grade (P < 0.0001 each), nodal metastasis (P ≤ 0.0083) and early biochemical recurrence (P < 0.0001). High levels of MMR gene expression paralleled features of genetic instability, such as the number of genomic deletions per cancer; strong expression of all three MMR genes was found in 24%, 29%, 30%, 33% and 42% of cancers with no, one, two, three or four to five deletions (P < 0.0001). The prognostic value of the analyzed MMR genes was largely driven by the subset of cancers lacking ERG fusion (P < 0.0001), while the prognostic impact of MMR gene overexpression was only marginal in ERG-positive cancers. Multivariate analyses suggested an independent prognostic relevance of MMR genes in ERG-negative prostate cancers when compared with prognostic parameters available at the time of initial biopsy. In conclusion, MMR overexpression is common in prostate cancer and is linked to poor outcome as well as features indicating genetic instability. ERG fusion should be analyzed along with MMR gene expression in potential clinical tests. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. A genetic link between epigenetic repressor AS1-AS2 and a putative small subunit processome in leaf polarity establishment of Arabidopsis

    Directory of Open Access Journals (Sweden)

    Yoko Matsumura

    2016-07-01

    Full Text Available Although the DEAD-box RNA helicase family is ubiquitous in eukaryotes, its developmental role remains unelucidated. Here, we report that cooperative action between the Arabidopsis nucleolar protein RH10, an ortholog of human DEAD-box RNA helicase DDX47, and the epigenetic repressor complex of ASYMMETRIC-LEAVES1 (AS1 and AS2 (AS1-AS2 is critical to repress abaxial (ventral genes ETT/ARF3 and ARF4, which leads to adaxial (dorsal development in leaf primordia at shoot apices. Double mutations of rh10-1 and as2 (or as1 synergistically up-regulated the abaxial genes, which generated abaxialized filamentous leaves with loss of the adaxial domain. DDX47 is part of the small subunit processome (SSUP that mediates rRNA biogenesis. In rh10-1 we found various defects in SSUP-related events, such as: accumulation of 35S/33S rRNA precursors; reduction in the 18S/25S ratio; and nucleolar hypertrophy. Double mutants of as2 with mutations of genes that encode other candidate SSUP-related components such as nucleolin and putative rRNA methyltransferase exhibited similar synergistic defects caused by up-regulation of ETT/ARF3 and ARF4. These results suggest a tight link between putative SSUP and AS1-AS2 in repression of the abaxial-determining genes for cell fate decisions for adaxial development.

  14. The power of the age standardized incidence rate to discover the gene link between cancer diseases: development of a new epidemiological method to save money, time, and effort for genetic scientists.

    Science.gov (United States)

    Alghamdi, Ibrahim G; Hussain, Issam I; Alghamdi, Mohamed S; El-Sheemy, Mohammed A

    2015-01-01

    This study provides an incipient epidemiological rule using the concept of direct method of standardization to determine the genetic link between cancer diseases. The overall 8 or 10 years age standardized incidence rate (ASIR) for both cancer diseases, for example (A) and (B) should be calculated for all regions of the country. A line chart should be used to display the overall ASIR trend of both diseases (A and B). Pearson's correlation can be used to determine the strength of the association between the overall ASIRs of both diseases. The overlap or opposite direction of the overall ASIR trend of both diseases (A and B) should be determined and studied for possible associations between cancer diseases. If the trend of the overall 8 or 10 years ASIR of a disease (A) follows that of disease (B) in all regions of the country, then the genes of patients with both diseases (A and B) will be highly homogeneous, and they should be studied in the region with the highest and lowest overall ASIR for both diseases (A and B). In addition, if there is an opposite direction or overlapping trend for both diseases (A and B) in certain regions of the country or among specific groups of people with the same demographic characteristics, then the genes of patients will be investigated for both diseases to identify the potential gene link between cancer diseases. This study revealed that the overall ASIR trends of female breast cancer, prostate cancer, and ovarian cancer are very similar in all regions of Saudi Arabia and England. Our epidemiological evidence helps to save money, time, and effort for testing the potential gene link between cancer diseases.

  15. The power of the age standardized incidence rate to discover the gene link between cancer diseases: development of a new epidemiological method to save money, time, and effort for genetic scientists

    Science.gov (United States)

    Alghamdi, Ibrahim G; Hussain, Issam I; Alghamdi, Mohamed S; El-Sheemy, Mohammed A

    2015-01-01

    Background This study provides an incipient epidemiological rule using the concept of direct method of standardization to determine the genetic link between cancer diseases. Methods The overall 8 or 10 years age standardized incidence rate (ASIR) for both cancer diseases, for example (A) and (B) should be calculated for all regions of the country. A line chart should be used to display the overall ASIR trend of both diseases (A and B). Pearson’s correlation can be used to determine the strength of the association between the overall ASIRs of both diseases. The overlap or opposite direction of the overall ASIR trend of both diseases (A and B) should be determined and studied for possible associations between cancer diseases. Results If the trend of the overall 8 or 10 years ASIR of a disease (A) follows that of disease (B) in all regions of the country, then the genes of patients with both diseases (A and B) will be highly homogeneous, and they should be studied in the region with the highest and lowest overall ASIR for both diseases (A and B). In addition, if there is an opposite direction or overlapping trend for both diseases (A and B) in certain regions of the country or among specific groups of people with the same demographic characteristics, then the genes of patients will be investigated for both diseases to identify the potential gene link between cancer diseases. Conclusion This study revealed that the overall ASIR trends of female breast cancer, prostate cancer, and ovarian cancer are very similar in all regions of Saudi Arabia and England. Our epidemiological evidence helps to save money, time, and effort for testing the potential gene link between cancer diseases. PMID:25878508

  16. Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.

    Science.gov (United States)

    Fareed, Mohd; Kaisar Ahmad, Mir; Azeem Anwar, Malik; Afzal, Mohammad

    2017-01-01

    The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P consanguineous families of all populations in comparison with the non-consanguineous family groups. Moreover, the prenatal and postnatal child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. Our conclusive assessment brings out the deleterious consequence of consanguineous marriages on reproductive outcomes.

  17. Isotherm and kinetics study of malachite green adsorption onto copper nanowires loaded on activated carbon: artificial neural network modeling and genetic algorithm optimization.

    Science.gov (United States)

    Ghaedi, M; Shojaeipour, E; Ghaedi, A M; Sahraei, Reza

    2015-05-05

    In this study, copper nanowires loaded on activated carbon (Cu-NWs-AC) was used as novel efficient adsorbent for the removal of malachite green (MG) from aqueous solution. This new material was synthesized through simple protocol and its surface properties such as surface area, pore volume and functional groups were characterized with different techniques such XRD, BET and FESEM analysis. The relation between removal percentages with variables such as solution pH, adsorbent dosage (0.005, 0.01, 0.015, 0.02 and 0.1g), contact time (1-40min) and initial MG concentration (5, 10, 20, 70 and 100mg/L) was investigated and optimized. A three-layer artificial neural network (ANN) model was utilized to predict the malachite green dye removal (%) by Cu-NWs-AC following conduction of 248 experiments. When the training of the ANN was performed, the parameters of ANN model were as follows: linear transfer function (purelin) at output layer, Levenberg-Marquardt algorithm (LMA), and a tangent sigmoid transfer function (tansig) at the hidden layer with 11 neurons. The minimum mean squared error (MSE) of 0.0017 and coefficient of determination (R(2)) of 0.9658 were found for prediction and modeling of dye removal using testing data set. A good agreement between experimental data and predicted data using the ANN model was obtained. Fitting the experimental data on previously optimized condition confirm the suitability of Langmuir isotherm models for their explanation with maximum adsorption capacity of 434.8mg/g at 25°C. Kinetic studies at various adsorbent mass and initial MG concentration show that the MG maximum removal percentage was achieved within 20min. The adsorption of MG follows the pseudo-second-order with a combination of intraparticle diffusion model. Copyright © 2015 Elsevier B.V. All rights reserved.

  18. Genetics and Neuromuscular Diseases

    Science.gov (United States)

    ... Testing that reveals a young child’s genet- ic destiny may affect relationships within the family or may ... linked inheritance don’t apply at all. An embryo receives its mitochondria from the mother’s egg cell, ...

  19. Genetics Home Reference: sialuria

    Science.gov (United States)

    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  20. Specific Genetic Disorders

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  1. HIV-1 transmitting couples have similar viral load set-points in Rakai, Uganda.

    Directory of Open Access Journals (Sweden)

    T Déirdre Hollingsworth

    2010-05-01

    Full Text Available It has been hypothesized that HIV-1 viral load set-point is a surrogate measure of HIV-1 viral virulence, and that it may be subject to natural selection in the human host population. A key test of this hypothesis is whether viral load set-points are correlated between transmitting individuals and those acquiring infection. We retrospectively identified 112 heterosexual HIV-discordant couples enrolled in a cohort in Rakai, Uganda, in which HIV transmission was suspected and viral load set-point was established. In addition, sequence data was available to establish transmission by genetic linkage for 57 of these couples. Sex, age, viral subtype, index partner, and self-reported genital ulcer disease status (GUD were known. Using ANOVA, we estimated the proportion of variance in viral load set-points which was explained by the similarity within couples (the 'couple effect'. Individuals with suspected intra-couple transmission (97 couples had similar viral load set-points (p = 0.054 single factor model, p = 0.0057 adjusted and the couple effect explained 16% of variance in viral loads (23% adjusted. The analysis was repeated for a subset of 29 couples with strong genetic support for transmission. The couple effect was the major determinant of viral load set-point (p = 0.067 single factor, and p = 0.036 adjusted and the size of the effect was 27% (37% adjusted. Individuals within epidemiologically linked couples with genetic support for transmission had similar viral load set-points. The most parsimonious explanation is that this is due to shared characteristics of the transmitted virus, a finding which sheds light on both the role of viral factors in HIV-1 pathogenesis and on the evolution of the virus.

  2. Beam loading

    OpenAIRE

    Boussard, Daniel

    1987-01-01

    We begin by giving a description of the radio-frequency generator-cavity-beam coupled system in terms of basic quantities. Taking beam loading and cavity detuning into account, expressions for the cavity impedance as seen by the generator and as seen by the beam are derived. Subsequently methods of beam-loading compensation by cavity detuning, radio-frequency feedback and feedforward are described. Examples of digital radio-frequency phase and amplitude control for the special case of superco...

  3. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  4. A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

    Science.gov (United States)

    Tsai, Meng-Han; Kuo, Pei-Wen; Myers, Candace T; Li, Shih-Wen; Lin, Wei-Che; Fu, Ting-Ying; Chang, Hsin-Yun; Mefford, Heather C; Chang, Yao-Chung; Tsai, Jin-Wu

    2016-09-01

    To study the genetics and functional alteration of a family with X-linked lissencephaly and subcortical band heterotopia. Five affected patients (one male with lissencephaly, four female with subcortical band heterotopia) and their relatives were studied. Sanger sequencing of DCX gene, allele specific PCR and molecular inversion probe technique were performed. Mutant and wild type of the gene products, namely doublecortin, were expressed in cells followed by immunostaining to explore the localization of doublecortin and microtubules in cells. In vitro microtubule-binding protein spin-down assay was performed to quantify the binding ability of doublecortin to microtubules. We identified a novel DCX mutation c.785A > G, p.Asp262Gly that segregated with the affected members of the family. Allele specific PCR and molecular inversion probe technique demonstrated that the asymptomatic female carrier had an 8% mutant allele fraction in DNA derived from peripheral leukocytes. This mother had 7 children, 4 of whom were affected and all four affected siblings carried the mutation. Functional study showed that the mutant doublecortin protein had a significant reduction of its ability to bind microtubules. Low level mosaicism could be a cause of inherited risk from asymptomatic parents for DCX related lissencephaly-subcortical band heterotopia spectrum. This is particularly important in terms of genetic counselling for recurrent risk of future pregnancies. The reduced binding affinity of mutant doublecortin may contribute to developmental malformation of the cerebral cortex. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  5. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  6. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  7. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  8. Load flow analysis using decoupled fuzzy load flow under critical ...

    African Journals Online (AJOL)

    user

    3.1 Maximum range selection of input and output variables: ..... Wong K. P., Li A., and Law M.Y., “ Advanced Constrained Genetic Algorithm Load Flow Method”, IEE Proc. ... Dr. Parimal Acharjee passed B.E.E. from North Bengal University ...

  9. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... Genetics Global Health Health Consequences of Drug Misuse Hepatitis (Viral) HIV/AIDS Mental Health Military Opioid Overdose Reversal ... hepatitis C, can also be spread this way. Hepatitis C can cause liver disease and ... increases brain viral load and activates natural killer cells in simian ...

  10. Beam loading

    CERN Document Server

    Gamp, Alexander

    2013-01-01

    We begin by giving a description of the radio-frequency generator-cavity-beam coupled system in terms of basic quantities. Taking beam loading and cavity detuning into account, expressions for the cavity impedance as seen by the generator and as seen by the beam are derived. Subsequently methods of beam-loading compensation by cavity detuning, radio-frequency feedback and feedforward are described. Examples of digital radio-frequency phase and amplitude control for the special case of superconducting cavities are also given. Finally, a dedicated phase loop for damping synchrotron oscillations is discussed.

  11. Beam loading

    International Nuclear Information System (INIS)

    Gamp, Alexander

    2013-01-01

    We begin by giving a description of the radio-frequency generator-cavity-beam coupled system in terms of basic quantities. Taking beam loading and cavity detuning into account, expressions for the cavity impedance as seen by the generator and as seen by the beam are derived. Subsequently methods of beam-loading compensation by cavity detuning, radio-frequency feedback and feedforward are described. Examples of digital radio-frequency phase and amplitude control for the special case of superconducting cavities are also given. Finally, a dedicated phase loop for damping synchrotron oscillations is discussed. (author)

  12. The power of the age standardized incidence rate to discover the gene link between cancer diseases: development of a new epidemiological method to save money, time, and effort for genetic scientists

    Directory of Open Access Journals (Sweden)

    Alghamdi IG

    2015-03-01

    Full Text Available Ibrahim G Alghamdi,1,2 Issam I Hussain,1 Mohamed S Alghamdi,3 Mohammed A El-Sheemy4 1School of Life Sciences, University of Lincoln, Lincoln, UK; 2College of Medicine, University of Al-Baha, Al-Baha, Saudi Arabia; 3Ministry of Health, General Directorate of Health Affairs Al-Baha, Al-Baha, Saudi Arabia; 4Lincoln Hospital, Research and Development United, Lincolnshire Hospitals NHS Trust, Lincoln, UK Background: This study provides an incipient epidemiological rule using the concept of direct method of standardization to determine the genetic link between cancer diseases. Methods: The overall 8 or 10 years age standardized incidence rate (ASIR for both cancer diseases, for example (A and (B should be calculated for all regions of the country. A line chart should be used to display the overall ASIR trend of both diseases (A and B. Pearson’s correlation can be used to determine the strength of the association between the overall ASIRs of both diseases. The overlap or opposite direction of the overall ASIR trend of both diseases (A and B should be determined and studied for possible associations between cancer diseases. Results: If the trend of the overall 8 or 10 years ASIR of a disease (A follows that of disease (B in all regions of the country, then the genes of patients with both diseases (A and B will be highly homogeneous, and they should be studied in the region with the highest and lowest overall ASIR for both diseases (A and B. In addition, if there is an opposite direction or overlapping trend for both diseases (A and B in certain regions of the country or among specific groups of people with the same demographic characteristics, then the genes of patients will be investigated for both diseases to identify the potential gene link between cancer diseases. Conclusion: This study revealed that the overall ASIR trends of female breast cancer, prostate cancer, and ovarian cancer are very similar in all regions of Saudi Arabia and England

  13. First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.

    Science.gov (United States)

    Wu, Tonghua; Yin, Biao; Zhu, Yuanchang; Li, Guangui; Ye, Lijun; Liang, Desheng; Zeng, Yong

    2017-12-01

    To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD. NGS data of the proband sample revealed that the size of the possible inverted fragment was over 42Mb, spanning from position 26, 814, 206 to position 69, 231, 915 on the X chromosome. The breakpoints were confirmed by Sanger sequencing. A total of 5 blastocyst embryos underwent trophectoderm biopsy. Two embryos were diagnosed as carriers and three were unaffected. Two unaffected blastocysts were transferred and a singleton pregnancy was achieved. Following confirmation by prenatal diagnosis, a healthy baby was delivered. This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD. Copyright © 2017. Published by Elsevier B.V.

  14. Operative Links

    DEFF Research Database (Denmark)

    Wistoft, Karen; Højlund, Holger

    2012-01-01

    and have been the object of great expectations concerning the ability to incorporate health concerns into every welfare area through health promotion strategies. The paper draws on results and analyses of a collective research project funded by the Danish National Research Council and carried out...... links' that indicate cooperative levels which facilitate a creative and innovative effort in disease prevention and health promotion targeted at children and adolescents - across traditional professional boundaries. It is proposed that such links are supported by network structures, shared semantics...

  15. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis . Recent studies have identified variations in dozens of genes that may be linked ...

  16. Load sensor

    NARCIS (Netherlands)

    Van den Ende, D.; Almeida, P.M.R.; Dingemans, T.J.; Van der Zwaag, S.

    2007-01-01

    The invention relates to a load sensor comprising a polymer matrix and a piezo-ceramic material such as PZT, em not bedded in the polymer matrix, which together form a compos not ite, wherein the polymer matrix is a liquid crystalline resin, and wherein the piezo-ceramic material is a PZT powder

  17. Carbohydrate Loading.

    Science.gov (United States)

    Csernus, Marilyn

    Carbohydrate loading is a frequently used technique to improve performance by altering an athlete's diet. The objective is to increase glycogen stored in muscles for use in prolonged strenuous exercise. For two to three days, the athlete consumes a diet that is low in carbohydrates and high in fat and protein while continuing to exercise and…

  18. Scandinavian links

    DEFF Research Database (Denmark)

    Matthiessen, Christian Wichmann; Knowles, Richard D.

    2014-01-01

    are impressive mega structures spanning international waterways. These waterways between the Baltic Sea and the North Sea have played major roles in history. The length of each of the crossings are around 20 km. The fixed links closes gaps between the Scandinavian and European motorway and rail networks...

  19. Genetics Home Reference: X-linked agammaglobulinemia

    Science.gov (United States)

    ... 5 [updated 2016 Aug 4]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  20. HER2 Genetic Link to Breast Cancer

    Science.gov (United States)

    When researchers discovered the HER2 gene's importance to breast cancer growth, this led to the development of trastuzumab and other treatments that have improved survival for women with HER2-positive breast cancer.

  1. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  2. Genetics Home Reference: PDGFRA-associated chronic eosinophilic leukemia

    Science.gov (United States)

    ... link) Genetic Testing Registry: Idiopathic hypereosinophilic syndrome Other Diagnosis and Management Resources (3 links) Cancer.Net: Leukemia - Eosinophilic: Treatment MedlinePlus Encyclopedia: Eosinophil Count - Absolute Seattle ...

  3. Load sensor

    OpenAIRE

    Van den Ende, D.; Almeida, P.M.R.; Dingemans, T.J.; Van der Zwaag, S.

    2007-01-01

    The invention relates to a load sensor comprising a polymer matrix and a piezo-ceramic material such as PZT, em not bedded in the polymer matrix, which together form a compos not ite, wherein the polymer matrix is a liquid crystalline resin, and wherein the piezo-ceramic material is a PZT powder forming 30-60% by volume of the composite, and wherein the PZT powder forms 40-50% by volume of the composite.

  4. Genetics Home Reference: activated PI3K-delta syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Immunodeficiency 14 Other Diagnosis and Management Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking to Your Doctor ...

  5. Genetic of the ABO blood system and its link with the immune system A genética do sistema ABO e sua relação com o sistema imune

    Directory of Open Access Journals (Sweden)

    Luiz C. de Mattos

    2004-03-01

    Full Text Available In the book "Eat Right For Your Type" the author Peter J. D'Adamo writes that the O blood type was the first blood type to appear in humans and affirms that the blood groups are the key to the immune system. Some recent phylogenetic network studies in humans and non-human primates implies that the A gene represents an ancient form of the ABO genes. Relationships between blood groups and infectious and noninfectious diseases and immunodeficiency abnormalities have also been reported in the literature. As D'Adamo's propositions seem to be in opposition with the current knowledge, we present in this paper some comments about the genetics and the evolution of the ABO blood group genes and some links between this blood system and the functioning of the immune system.Peter J. D'Adamo, autor do livro "Eat Right For Your Type", escreve que o grupo O representa o primeiro tipo sangüíneo que surgiu nos humanos e também afirma que os grupos sangüíneos constituem as bases do sistema imune. Recentes estudos filogenéticos realizados em primatas humanos e não humanos estabeleceram que o gene A representa a forma ancestral dos genes que ocupam o locus ABO. Associações entre os grupos sangüíneos ABO, doenças infecciosas, não infecciosas e imunodeficiências também foram relatadas. Diante das proposições do autor, as quais se opõem às informações resultantes de recentes estudos moleculares e filogenéticos, nossa intenção é apresentar algumas reflexões sobre a genética e a evolução dos genes do sistema ABO e as conexões deste sistema com o sistema imune.

  6. Genetics Home Reference: progressive external ophthalmoplegia

    Science.gov (United States)

    ... and can affect both males and females, but fathers do not pass traits associated with changes in ... Genetic Testing (4 links) Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ...

  7. Genetics Home Reference: non-alcoholic fatty liver disease

    Science.gov (United States)

    ... individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to ... Resources Genetic Testing (2 links) Genetic Testing Registry: Fatty liver disease, nonalcoholic 1 Genetic Testing Registry: Fatty liver ...

  8. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  9. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  10. Genetics Home Reference: isolated sulfite oxidase deficiency

    Science.gov (United States)

    ... and Management Resources (1 link) GeneReview: Isolated Sulfite Oxidase Deficiency General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  11. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Consumer Version The University of Chicago Medicine World ...

  12. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... Resources (5 links) Disease InfoSearch: Williams syndrome Genetic Science Learning Center, University of Utah MalaCards: williams-beuren ...

  13. Genetics Home Reference: spondylothoracic dysostosis

    Science.gov (United States)

    ... normal-length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities, which are present ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Dwarfism Health Topic: Spine Injuries and Disorders Genetic and ...

  14. Genetics, Disease Prevention and Treatment

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  15. Talking Glossary of Genetic Terms

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  16. Load testing circuit

    DEFF Research Database (Denmark)

    2009-01-01

    A load testing circuit a circuit tests the load impedance of a load connected to an amplifier. The load impedance includes a first terminal and a second terminal, the load testing circuit comprising a signal generator providing a test signal of a defined bandwidth to the first terminal of the load...

  17. A review of a method for dynamic load distribution, dynamic modeling, and explicit internal force control when two serial link manipulators mutually lift and transport a rigid body object

    International Nuclear Information System (INIS)

    Unseren, M.A.

    1997-09-01

    The report reviews a method for modeling and controlling two serial link manipulators which mutually lift and transport a rigid body object in a three dimensional workspace. A new vector variable is introduced which parameterizes the internal contact force controlled degrees of freedom. A technique for dynamically distributing the payload between the manipulators is suggested which yields a family of solutions for the contact forces and torques the manipulators impart to the object. A set of rigid body kinematic constraints which restricts the values of the joint velocities of both manipulators is derived. A rigid body dynamical model for the closed chain system is first developed in the joint space. The model is obtained by generalizing the previous methods for deriving the model. The joint velocity and acceleration variables in the model are expressed in terms of independent pseudovariables. The pseudospace model is transformed to obtain reduced order equations of motion and a separate set of equations governing the internal components of the contact forces and torques. A theoretic control architecture is suggested which explicitly decouples the two sets of equations comprising the model. The controller enables the designer to develop independent, non-interacting control laws for the position control and internal force control of the system

  18. A review of a method for dynamic load distribution, dynamic modeling, and explicit internal force control when two serial link manipulators mutually lift and transport a rigid body object

    Energy Technology Data Exchange (ETDEWEB)

    Unseren, M.A.

    1997-09-01

    The report reviews a method for modeling and controlling two serial link manipulators which mutually lift and transport a rigid body object in a three dimensional workspace. A new vector variable is introduced which parameterizes the internal contact force controlled degrees of freedom. A technique for dynamically distributing the payload between the manipulators is suggested which yields a family of solutions for the contact forces and torques the manipulators impart to the object. A set of rigid body kinematic constraints which restricts the values of the joint velocities of both manipulators is derived. A rigid body dynamical model for the closed chain system is first developed in the joint space. The model is obtained by generalizing the previous methods for deriving the model. The joint velocity and acceleration variables in the model are expressed in terms of independent pseudovariables. The pseudospace model is transformed to obtain reduced order equations of motion and a separate set of equations governing the internal components of the contact forces and torques. A theoretic control architecture is suggested which explicitly decouples the two sets of equations comprising the model. The controller enables the designer to develop independent, non-interacting control laws for the position control and internal force control of the system.

  19. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  20. Loads and loads and loads: The influence of prospective load, retrospective load, and ongoing task load in prospective memory

    Directory of Open Access Journals (Sweden)

    Beat eMeier

    2015-06-01

    Full Text Available In prospective memory tasks different kinds of load can occur. Adding a prospective memory task can impose a load on ongoing task performance. Adding ongoing task load can affect prospective memory performance. The existence of multiple target events increases prospective load and adding complexity to the to-be-remembered action increases retrospective load. In two experiments, we systematically examined the effects of these different types of load on prospective memory performance. Results showed an effect of prospective load on costs in the ongoing task for categorical targets (Experiment 2, but not for specific targets (Experiment 1. Retrospective load and ongoing task load both affected remembering the retrospective component of the prospective memory task. We suggest that prospective load can enhance costs in the ongoing task due to additional monitoring requirements. Retrospective load and ongoing task load seem to impact the division of resources between the ongoing task and retrieval of the retrospective component, which may affect disengagement from the ongoing task. In general, the results demonstrate that the different types of load affect prospective memory differentially.

  1. Difficulties in Genetics Problem Solving.

    Science.gov (United States)

    Tolman, Richard R.

    1982-01-01

    Examined problem-solving strategies of 30 high school students as they solved genetics problems. Proposes a new sequence of teaching genetics based on results: meiosis, sex chromosomes, sex determination, sex-linked traits, monohybrid and dihybrid crosses (humans), codominance (humans), and Mendel's pea experiments. (JN)

  2. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  3. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  4. Genetics Home Reference: adenosine deaminase deficiency

    Science.gov (United States)

    ... Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia (PDF) Genetic Testing (1 link) Genetic Testing Registry: Severe ... Diseases Immune Deficiency Foundation Jeffrey Modell Foundation National Organization for Rare ... OMIM (1 link) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE ...

  5. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  6. Distribution load estimation (DLE)

    Energy Technology Data Exchange (ETDEWEB)

    Seppaelae, A; Lehtonen, M [VTT Energy, Espoo (Finland)

    1998-08-01

    The load research has produced customer class load models to convert the customers` annual energy consumption to hourly load values. The reliability of load models applied from a nation-wide sample is limited in any specific network because many local circumstances are different from utility to utility and time to time. Therefore there is a need to find improvements to the load models or, in general, improvements to the load estimates. In Distribution Load Estimation (DLE) the measurements from the network are utilized to improve the customer class load models. The results of DLE will be new load models that better correspond to the loading of the distribution network but are still close to the original load models obtained by load research. The principal data flow of DLE is presented

  7. Genetic analysis of fertility restoration under CGMS system in rice ...

    Indian Academy of Sciences (India)

    restore complete fertility of a certain CMS line by various restorer lines (Tan et ... Keywords. rice; heterosis; three-way test cross; fertility restoration genetics. Journal of ..... plants indicating a strong genetic load of maintenance in. DE2. Table 8.

  8. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Immunocompetence in Drosophila: linking genetic to phenotypic variation · Shampa Ghosh Sharmila Bharathi · More Details Fulltext PDF. pp 9-11 Hypothesis. On the genetic basis of temperature compensation of circadian clocks · Vijay Kumar Sharma · More Details Fulltext PDF. pp 13-15 Commentary on J. Genet. Classic.

  9. Distribution load estimation - DLE

    Energy Technology Data Exchange (ETDEWEB)

    Seppaelae, A. [VTT Energy, Espoo (Finland)

    1996-12-31

    The load research project has produced statistical information in the form of load models to convert the figures of annual energy consumption to hourly load values. The reliability of load models is limited to a certain network because many local circumstances are different from utility to utility and time to time. Therefore there is a need to make improvements in the load models. Distribution load estimation (DLE) is the method developed here to improve load estimates from the load models. The method is also quite cheap to apply as it utilises information that is already available in SCADA systems

  10. Distribution load estimation - DLE

    Energy Technology Data Exchange (ETDEWEB)

    Seppaelae, A [VTT Energy, Espoo (Finland)

    1997-12-31

    The load research project has produced statistical information in the form of load models to convert the figures of annual energy consumption to hourly load values. The reliability of load models is limited to a certain network because many local circumstances are different from utility to utility and time to time. Therefore there is a need to make improvements in the load models. Distribution load estimation (DLE) is the method developed here to improve load estimates from the load models. The method is also quite cheap to apply as it utilises information that is already available in SCADA systems

  11. Chromosal rearrangements in the onion fly Hylemya antiqua (Meigen), induced and isolated for genetic insect control purposes : studies on cytogenetics and fertility, with emphasis on an X-linked translocation

    NARCIS (Netherlands)

    Heemert, van C.

    1975-01-01

    The aim of this investigation was to isolate structural chromosome mutations causing "semi"-sterility which can be used for genetic control of the onion fly Hylemya antiqua (Meigen). For the induction, X-rays or fast neutrons were applied in different doses on males and females.

  12. Hybrid Bee Ant Colony Algorithm for Effective Load Balancing And ...

    African Journals Online (AJOL)

    PROF. OLIVER OSUAGWA

    Ant Colony algorithm is used in this hybrid Bee Ant Colony algorithm to solve load balancing issues ... Genetic Algorithm (MO-GA) for dynamic job scheduling that .... Information Networking and Applications Workshops. [7]. M. Dorigo & T.

  13. Exploring links among imitation, mental development, and temperament.

    Science.gov (United States)

    Fenstermacher, Susan K; Saudino, Kimberly J

    2016-01-01

    Links among imitation, performance on a standardized test of intellectual development, and laboratory-assessed temperament were explored in 311 24-month old twin pairs. Moderate phenotypic associations were found between imitation, mental development, and temperament dimensions of Affect/Extraversion and Task Orientation. Covariance between imitation and mental development reflected genetic and shared environmental influences, whereas associations between imitation and temperament reflected genetic, shared, and nonshared environmental influences. Genetic factors linking imitation and temperament were the same as those linking temperament and mental development. Nonetheless, approximately 62% of total genetic variance on imitation was independent of genetic influences on mental development and temperament, suggesting that young children's imitation is not simply an index of general cognitive ability or dispositional style but has many underlying genetic influences that are unique.

  14. Shot loading platform analysis

    International Nuclear Information System (INIS)

    Norman, B.F.

    1994-01-01

    This document provides the wind/seismic analysis and evaluation for the shot loading platform. Hand calculations were used for the analysis. AISC and UBC load factors were used in this evaluation. The results show that the actual loads are under the allowable loads and all requirements are met

  15. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  16. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  17. Analysis of recessive sex-linked lethal mutations in genetically different strains of Drosophila melanogaster ms and w irradiated in the five-kilometer zone of the Chernobyl meltdown

    International Nuclear Information System (INIS)

    Aslanyan, M.M.; Kim, A.I.; Magomedova, M.A.; Fatkulbayanova, N.L.

    1994-01-01

    The frequency of induced and spontaneous recessive sex-linked lethal mutations (RSLLM) in Drosophila melanogaster strains w and ms was estimated after their chronic irradiation in the five-kilometer zone of the Chernobyl' meltdown. The mutagenic effect of relatively low radiation doses was analyzed. In an experiment conducted in 1990, a significant increase in the RSLLM frequency was recorded, while, in 1991, no significant difference between the experiment and control was found

  18. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. Copyright © 2015 by the Genetics Society of America.

  19. Loads and loads and loads: the influence of prospective load, retrospective load, and ongoing task load in prospective memory

    Science.gov (United States)

    Meier, Beat; Zimmermann, Thomas D.

    2015-01-01

    In prospective memory tasks different kinds of load can occur. Adding a prospective memory task can impose a load on ongoing task performance. Adding ongoing task load (OTL) can affect prospective memory performance. The existence of multiple target events increases prospective load (PL) and adding complexity to the to-be-remembered action increases retrospective load (RL). In two experiments, we systematically examined the effects of these different types of load on prospective memory performance. Results showed an effect of PL on costs in the ongoing task for categorical targets (Experiment 2), but not for specific targets (Experiment 1). RL and OTL both affected remembering the retrospective component of the prospective memory task. We suggest that PL can enhance costs in the ongoing task due to additional monitoring requirements. RL and OTL seem to impact the division of resources between the ongoing task and retrieval of the retrospective component, which may affect disengagement from the ongoing task. In general, the results demonstrate that the different types of load affect prospective memory differentially. PMID:26082709

  20. Loads and loads and loads: the influence of prospective load, retrospective load, and ongoing task load in prospective memory.

    Science.gov (United States)

    Meier, Beat; Zimmermann, Thomas D

    2015-01-01

    In prospective memory tasks different kinds of load can occur. Adding a prospective memory task can impose a load on ongoing task performance. Adding ongoing task load (OTL) can affect prospective memory performance. The existence of multiple target events increases prospective load (PL) and adding complexity to the to-be-remembered action increases retrospective load (RL). In two experiments, we systematically examined the effects of these different types of load on prospective memory performance. Results showed an effect of PL on costs in the ongoing task for categorical targets (Experiment 2), but not for specific targets (Experiment 1). RL and OTL both affected remembering the retrospective component of the prospective memory task. We suggest that PL can enhance costs in the ongoing task due to additional monitoring requirements. RL and OTL seem to impact the division of resources between the ongoing task and retrieval of the retrospective component, which may affect disengagement from the ongoing task. In general, the results demonstrate that the different types of load affect prospective memory differentially.

  1. What Is Direct-to-Consumer Genetic Testing?

    Science.gov (United States)

    ... consumer genetic testing. Additional information about direct-to-consumer marketing of genetic tests and related research questions are ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  2. Formulation and Characterization of Glutaraldehyde Cross-Linked ...

    African Journals Online (AJOL)

    ... drug/polymer ratio, volume of cross linking agent and volume of surfactant were ... The microspheres were characterized for entrapment efficiency, drug loading, ... size distribution (105 – 219 μm) and an entrapment efficiency of up to 73 %.

  3. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  4. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  5. Network reconfiguration for loss reduction in electrical distribution system using genetic algorithm

    International Nuclear Information System (INIS)

    Adail, A.S.A.A.

    2012-01-01

    Distribution system is a critical links between the utility and the nuclear installation. During feeding electricity to that installation there are power losses. The quality of the network depends on the reduction of these losses. Distribution system which feeds the nuclear installation must have a higher quality power. For example, in Inshas site, electrical power is supplied to it from two incoming feeders (one from new abu-zabal substation and the other from old abu-zabal substation). Each feeder is designed to carry the full load, while the operator preferred to connect with a new abu-zabal substation, which has a good power quality. Bad power quality affects directly the nuclear reactor and has a negative impact on the installed sensitive equipment's of the operation. The thesis is Studying the electrical losses in a distribution system (causes and effected factors), feeder reconfiguration methods, and applying of genetic algorithm in an electric distribution power system. In the end, this study proposes an optimization technique based on genetic algorithms for distribution network reconfiguration to reduce the network losses to minimum. The proposed method is applied to IEEE test network; that contain 3 feeders and 16 nodes. The technique is applied through two groups, distribution have general loads, and nuclear loads. In the groups the technique applied to seven cases at normal operation state, system fault condition as well as different loads conditions. Simulated results are drawn to show the accuracy of the technique.

  6. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  7. Linked data management

    CERN Document Server

    Hose, Katja; Schenkel, Ralf

    2014-01-01

    Linked Data Management presents techniques for querying and managing Linked Data that is available on today’s Web. The book shows how the abundance of Linked Data can serve as fertile ground for research and commercial applications. The text focuses on aspects of managing large-scale collections of Linked Data. It offers a detailed introduction to Linked Data and related standards, including the main principles distinguishing Linked Data from standard database technology. Chapters also describe how to generate links between datasets and explain the overall architecture of data integration systems based on Linked Data. A large part of the text is devoted to query processing in different setups. After presenting methods to publish relational data as Linked Data and efficient centralized processing, the book explores lookup-based, distributed, and parallel solutions. It then addresses advanced topics, such as reasoning, and discusses work related to read-write Linked Data for system interoperation. Desp...

  8. Molecular mechanics of silk nanostructures under varied mechanical loading.

    Science.gov (United States)

    Bratzel, Graham; Buehler, Markus J

    2012-06-01

    Spider dragline silk is a self-assembling tunable protein composite fiber that rivals many engineering fibers in tensile strength, extensibility, and toughness, making it one of the most versatile biocompatible materials and most inviting for synthetic mimicry. While experimental studies have shown that the peptide sequence and molecular structure of silk have a direct influence on the stiffness, toughness, and failure strength of silk, few molecular-level analyses of the nanostructure of silk assemblies, in particular, under variations of genetic sequences have been reported. In this study, atomistic-level structures of wildtype as well as modified MaSp1 protein from the Nephila clavipes spider dragline silk sequences, obtained using an in silico approach based on replica exchange molecular dynamics and explicit water molecular dynamics, are subjected to simulated nanomechanical testing using different force-control loading conditions including stretch, pull-out, and peel. The authors have explored the effects of the poly-alanine length of the N. clavipes MaSp1 peptide sequence and identify differences in nanomechanical loading conditions on the behavior of a unit cell of 15 strands with 840-990 total residues used to represent a cross-linking β-sheet crystal node in the network within a fibril of the dragline silk thread. The specific loading condition used, representing concepts derived from the protein network connectivity at larger scales, have a significant effect on the mechanical behavior. Our analysis incorporates stretching, pull-out, and peel testing to connect biochemical features to mechanical behavior. The method used in this study could find broad applications in de novo design of silk-like tunable materials for an array of applications. Copyright © 2011 Wiley Periodicals, Inc.

  9. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-01-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  10. Mapping the x-linked lymphoproliferative syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-04-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally.

  11. Optimisation of the link volume for weakest link failure prediction in NBG-18 nuclear graphite

    International Nuclear Information System (INIS)

    Hindley, Michael P.; Groenwold, Albert A.; Blaine, Deborah C.; Becker, Thorsten H.

    2014-01-01

    This paper describes the process for approximating the optimal size of a link volume required for weakest link failure calculation in nuclear graphite, with NBG-18 used as an example. As part of the failure methodology, the link volume is defined in terms of two grouping criteria. The first criterion is a factor of the maximum grain size and the second criterion is a function of an equivalent stress limit. A methodology for approximating these grouping criteria is presented. The failure methodology employs finite element analysis (FEA) in order to predict the failure load, at 50% probability of failure. The average experimental failure load, as determined for 26 test geometries, is used to evaluate the accuracy of the weakest link failure calculations. The influence of the two grouping criteria on the failure load prediction is evaluated by defining an error in prediction across all test cases. Mathematical optimisation is used to find the minimum error across a range of test case failure predictions. This minimum error is shown to deliver the most accurate failure prediction across a whole range of components, although some test cases in the range predict conservative failure load. The mathematical optimisation objective function is penalised to account for non-conservative prediction of the failure load for any test case. The optimisation is repeated and a link volume found for conservative failure prediction. The failure prediction for each test case is evaluated, in detail, for the proposed link volumes. Based on the analysis, link design volumes for NBG-18 are recommended for either accurate or conservative failure prediction

  12. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Science.gov (United States)

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  13. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

    Science.gov (United States)

    ... Testing (1 link) Genetic Testing Registry: Acute myeloid leukemia Other Diagnosis and Management Resources (3 links) Fred Hutchinson Cancer Research Center National Cancer Institute: Acute Myeloid Leukemia Treatment St. Jude Children's Research Hospital General Information ...

  14. Genetics Home Reference: early infantile epileptic encephalopathy 1

    Science.gov (United States)

    ... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

  15. Wind Loads on Structures

    DEFF Research Database (Denmark)

    Dyrbye, Claes; Hansen, Svend Ole

    Wind loads have to be taken into account when designing civil engineering structures. The wind load on structures can be systematised by means of the wind load chain: wind climate (global), terrain (wind at low height), aerodynamic response (wind load to pressure), mechanical response (wind...... pressure to structural response) and design criteria. Starting with an introduction of the wind load chain, the book moves on to meteorological considerations, atmospheric boundary layer, static wind load, dynamic wind load and scaling laws used in wind-tunnel tests. The dynamic wind load covers vibrations...... induced by wind turbulence, vortex shedding, flutter and galloping. The book gives a comprehensive treatment of wind effects on structures and it will be useful for consulting engineers designing wind-sensitive structures. It will also be valuable for students of civil engineering as textbook...

  16. Carbohydrate-Loading Diet

    Science.gov (United States)

    ... Grape juice (12 ounces) 55 225 Lunch Milk, chocolate, reduced fat (12 ounces) 45 285 4 slices ... usual during carbohydrate loading to get the same benefits as a man does. Despite carbohydrate loading, you ...

  17. Autonomous Propellant Loading Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The AES Autonomous Propellant Loading (APL) project consists of three activities. The first is to develop software that will automatically control loading of...

  18. Fuel pellet loading apparatus

    International Nuclear Information System (INIS)

    1980-01-01

    Apparatus is described for loading a predetermined amount of nuclear fuel pellets into nuclear fuel elements and particularly for the automatic loading of fuel pellets from within a sealed compartment. (author)

  19. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  20. Genetic influence on prolonged gestation

    DEFF Research Database (Denmark)

    Laursen, Maja; Bille, Camilla; Olesen, Annette Wind

    2004-01-01

    OBJECTIVE: The purpose of this study was to test a possible genetic component to prolonged gestation. STUDY DESIGN: The gestational duration of single, first pregnancies by both female and male twins was obtained by linking the Danish Twin Registry, The Danish Civil Registration System, and the D...... factors. CONCLUSION: Maternal genes influence prolonged gestation. However, a substantial paternal genetic influence through the fetus was not found....

  1. Foot positioning instruction, initial vertical load position and lifting technique: effects on low back loading

    OpenAIRE

    Kingma, I.; Bosch, T.; Bruins, L.; van Dieen, J.H.

    2004-01-01

    This study investigated the effects of initial load height and foot placement instruction in four lifting techniques: free, stoop (bending the back), squat (bending the knees) and a modified squat technique (bending the knees and rotating them outward). A 2D dynamic linked segment model was combined with an EMG assisted trunk muscle model to quantify kinematics and low back loading in 10 subjects performing 19 different lifting movements, using 10.5 kg boxes without handles. When lifting from...

  2. Limit loads in nozzles

    International Nuclear Information System (INIS)

    Zouain, N.

    1983-01-01

    The static method for the evaluation of the limit loads of a perfectly elasto-plastic structure is presented. Using the static theorem of Limit Analysis and the Finite Element Method, a lower bound for the colapso load can be obtained through a linear programming problem. This formulation if then applied to symmetrically loaded shells of revolution and some numerical results of limit loads in nozzles are also presented. (Author) [pt

  3. An ancestral human genetic variant linked to an ancient disease: A novel association of FMO2 polymorphisms with tuberculosis (TB in Ethiopian populations provides new insight into the differential ethno-geographic distribution of FMO2*1.

    Directory of Open Access Journals (Sweden)

    Ephrem Mekonnen

    Full Text Available The human FMO2 (flavin-containing monooxygenase 2 gene has been shown to be involved in innate immunity against microbial infections, including tuberculosis (TB, via the modulation of oxidative stress levels. It has also been found to possess a curious loss-of-function mutation (FMO2*1/FMO2*2 that demonstrates a distinctive differentiation in expression, function and ethno-geographic distribution. However, despite evidences of ethnic-specific genetic associations in the inflammatory profile of TB, no studies were done to investigate whether these patterns of variations correlate with evidences for the involvement of FMO2 in antimicrobial immune responses and ethnic differences in the distribution of FMO2 polymorphisms except for some pharmacogenetic data that suggest a potentially deleterious role for the functional variant (FMO2*1. This genetic epidemiological study was designed to investigate whether there is an association between FMO2 polymorphisms and TB, an ancient malady that remains a modern global health concern, in a sub-Saharan Africa setting where there is not only a relatively high co-prevalence of the disease and the ancestral FMO2*1 variant but also where both Mycobcaterium and Homo sapiens are considered to have originated and co-evolved. Blood samples and TB related clinical data were collected from ascertained TB cases and unrelated household controls (n = 292 from 3 different ethnic groups in Ethiopia. Latent Mtb infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of FMO2.We identified for the first time an association between FMO2 and TB both at the SNP and haplotype level. Two novel SNPs achieved a study-wide significance [chr1:171181877(A, p = 3.15E-07, OR = 4.644 and chr1:171165749(T, p = 3.32E-06, OR = 6.825] while multiple SNPs (22 showed nominal signals. The pattern of association suggested a protective effect of FMO2 against both active and latent TB

  4. Translation and genetic criticism : genetic and editorial approaches to the 'untranslatable' in Joyce and Beckett

    OpenAIRE

    Hulle, Van, Dirk

    2015-01-01

    Abstract: Genetics of translation may suggest a unidirectional link between two fields of research (genetic criticism applied to translation), but there are many ways in which translation and genetic criticism interact. This article's research hypothesis is that an exchange of ideas between translation studies and genetic criticism can be mutually beneficial in more than one way. The main function of this exchange is to enhance a form of textual awareness, and to realize this enhanced textual...

  5. Spatial electric load forecasting

    CERN Document Server

    Willis, H Lee

    2002-01-01

    Spatial Electric Load Forecasting Consumer Demand for Power and ReliabilityCoincidence and Load BehaviorLoad Curve and End-Use ModelingWeather and Electric LoadWeather Design Criteria and Forecast NormalizationSpatial Load Growth BehaviorSpatial Forecast Accuracy and Error MeasuresTrending MethodsSimulation Method: Basic ConceptsA Detailed Look at the Simulation MethodBasics of Computerized SimulationAnalytical Building Blocks for Spatial SimulationAdvanced Elements of Computerized SimulationHybrid Trending-Simulation MethodsAdvanced

  6. Maximum allowable load on wheeled mobile manipulators

    International Nuclear Information System (INIS)

    Habibnejad Korayem, M.; Ghariblu, H.

    2003-01-01

    This paper develops a computational technique for finding the maximum allowable load of mobile manipulator during a given trajectory. The maximum allowable loads which can be achieved by a mobile manipulator during a given trajectory are limited by the number of factors; probably the dynamic properties of mobile base and mounted manipulator, their actuator limitations and additional constraints applied to resolving the redundancy are the most important factors. To resolve extra D.O.F introduced by the base mobility, additional constraint functions are proposed directly in the task space of mobile manipulator. Finally, in two numerical examples involving a two-link planar manipulator mounted on a differentially driven mobile base, application of the method to determining maximum allowable load is verified. The simulation results demonstrates the maximum allowable load on a desired trajectory has not a unique value and directly depends on the additional constraint functions which applies to resolve the motion redundancy

  7. Time- & Load-Dependence of Triboelectric Effect.

    Science.gov (United States)

    Pan, Shuaihang; Yin, Nian; Zhang, Zhinan

    2018-02-06

    Time- and load-dependent friction behavior is considered as important for a long time, due to its time-evolution and force-driving characteristics. However, its electronic behavior, mainly considered in triboelectric effect, has almost never been given the full attention and analyses from the above point of view. In this paper, by experimenting with fcc-latticed aluminum and copper friction pairs, the mechanical and electronic behaviors of friction contacts are correlated by time and load analyses, and the behind physical understanding is provided. Most importantly, the difference of "response lag" in force and electricity is discussed, the extreme points of coefficient of friction with the increasing normal loads are observed and explained with the surface properties and dynamical behaviors (i.e. wear), and the micro and macro theories linking tribo-electricity to normal load and wear (i.e. the physical explanation between coupled electrical and mechanical phenomena) are successfully developed and tested.

  8. Genetics Home Reference: spastic paraplegia type 8

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  9. Genetics Home Reference: spastic paraplegia type 31

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  10. Genetics Home Reference: chylomicron retention disease

    Science.gov (United States)

    ... reflexes (hyporeflexia) and a decreased ability to feel vibrations. Related Information What does it mean if a ... Encyclopedia: Malabsorption General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  11. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  12. Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

    Science.gov (United States)

    ... slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  13. Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

    Science.gov (United States)

    ... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  14. Frequently Asked Questions about Genetic Testing

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  15. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    The Relative Effects of Paternal and Maternal age in Mongolism (Published on J. Genet. ... of the Schizosaccharomyces pombe Ste11p regulator of sexual development .... X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

  16. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  17. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  18. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  19. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  20. Optimisation of load control

    International Nuclear Information System (INIS)

    Koponen, P.

    1998-01-01

    Electricity cannot be stored in large quantities. That is why the electricity supply and consumption are always almost equal in large power supply systems. If this balance were disturbed beyond stability, the system or a part of it would collapse until a new stable equilibrium is reached. The balance between supply and consumption is mainly maintained by controlling the power production, but also the electricity consumption or, in other words, the load is controlled. Controlling the load of the power supply system is important, if easily controllable power production capacity is limited. Temporary shortage of capacity causes high peaks in the energy price in the electricity market. Load control either reduces the electricity consumption during peak consumption and peak price or moves electricity consumption to some other time. The project Optimisation of Load Control is a part of the EDISON research program for distribution automation. The following areas were studied: Optimization of space heating and ventilation, when electricity price is time variable, load control model in power purchase optimization, optimization of direct load control sequences, interaction between load control optimization and power purchase optimization, literature on load control, optimization methods and field tests and response models of direct load control and the effects of the electricity market deregulation on load control. An overview of the main results is given in this chapter

  1. Optimisation of load control

    Energy Technology Data Exchange (ETDEWEB)

    Koponen, P [VTT Energy, Espoo (Finland)

    1998-08-01

    Electricity cannot be stored in large quantities. That is why the electricity supply and consumption are always almost equal in large power supply systems. If this balance were disturbed beyond stability, the system or a part of it would collapse until a new stable equilibrium is reached. The balance between supply and consumption is mainly maintained by controlling the power production, but also the electricity consumption or, in other words, the load is controlled. Controlling the load of the power supply system is important, if easily controllable power production capacity is limited. Temporary shortage of capacity causes high peaks in the energy price in the electricity market. Load control either reduces the electricity consumption during peak consumption and peak price or moves electricity consumption to some other time. The project Optimisation of Load Control is a part of the EDISON research program for distribution automation. The following areas were studied: Optimization of space heating and ventilation, when electricity price is time variable, load control model in power purchase optimization, optimization of direct load control sequences, interaction between load control optimization and power purchase optimization, literature on load control, optimization methods and field tests and response models of direct load control and the effects of the electricity market deregulation on load control. An overview of the main results is given in this chapter

  2. Nonequilibrium Chromosome Looping via Molecular Slip Links

    Science.gov (United States)

    Brackley, C. A.; Johnson, J.; Michieletto, D.; Morozov, A. N.; Nicodemi, M.; Cook, P. R.; Marenduzzo, D.

    2017-09-01

    We propose a model for the formation of chromatin loops based on the diffusive sliding of molecular slip links. These mimic the behavior of molecules like cohesin, which, along with the CTCF protein, stabilize loops which contribute to organizing the genome. By combining 3D Brownian dynamics simulations and 1D exactly solvable nonequilibrium models, we show that diffusive sliding is sufficient to account for the strong bias in favor of convergent CTCF-mediated chromosome loops observed experimentally. We also find that the diffusive motion of multiple slip links along chromatin is rectified by an intriguing ratchet effect that arises if slip links bind to the chromatin at a preferred "loading site." This emergent collective behavior favors the extrusion of loops which are much larger than the ones formed by single slip links.

  3. Genetic Variations in the Kir6.2 Subunit (KCNJ11 of Pancreatic ATP-Sensitive Potassium Channel Gene Are Associated with Insulin Response to Glucose Loading and Early Onset of Type 2 Diabetes in Childhood and Adolescence in Taiwan

    Directory of Open Access Journals (Sweden)

    Yi-Der Jiang

    2014-01-01

    Full Text Available To investigate the role of E23K polymorphism of the KCNJ11 gene on early onset of type 2 diabetes in school-aged children/adolescents in Taiwan, we recruited 38 subjects with type 2 diabetes (ages 18.6 ± 6.6 years; body mass index percentiles 83.3 ± 15.4 and 69 normal controls (ages 17.3 ± 3.8 years; body mass index percentiles 56.7 ± 29.0 from a national surveillance for childhood/adolescent diabetes in Taiwan. We searched for the E23K polymorphism of the KCNJ11 gene. We found that type 2 diabetic subjects had higher carrier rate of E23K polymorphism of KCNJ11 gene than control subjects (P = 0.044. After adjusting for age, gender, body mass index percentiles, and fasting plasma insulin, the E23K polymorphism contributed to an increased risk for type 2 diabetes (P = 0.047. K23-allele-containing genotypes conferring increased plasma insulin level during OGTT in normal subjects. However, the diabetic subjects with the K23-allele-containing genotypes had lower fasting plasma insulin levels after adjustment of age and BMI percentiles. In conclusion, the E23K variant of the KCNJ11 gene conferred higher susceptibility to type 2 diabetes in children/adolescents. Furthermore, in normal glucose-tolerant children/adolescents, K23 allele carriers had a higher insulin response to oral glucose loading.

  4. Good news for conservation: mitochondrial and microsatellite DNA data detect limited genetic signatures of inter-basin fish transfer in Thymallus thymallus (Salmonidae from the Upper Drava River

    Directory of Open Access Journals (Sweden)

    Meraner A.

    2013-06-01

    Full Text Available In the last few decades, numerous populations of European grayling, Thymallus thymallus, have been suffering from stocking-induced genetic admixture of foreign strains into wild populations. Concordantly, genetic introgression was also reportedfor grayling stocks inhabiting the Upper Drava River, but all published genetic data based on specimens caught at least a decade ago, when stocking load was strong. Here, we applied mitochondrial control region sequencing and nuclear microsatellite genotyping to Upper Drava grayling fry collections and reference samples to update patterns and extent of human-mediated introgression. In contrast to previous data, we highlighted an almost genetic integrity of Drava grayling, evidencing limited genetic signatures of trans-basin stocking for grayling of Northern Alpine Danubian origin. Recent hybridisation was detected only twice among sixty-nine samples, while several cases of later-generation hybrids were disclosed by linking mitochondrial sequence to nuclear genetic data. The observed past, but very limited recent genetic introgression in grayling from Upper Drava seems to reflect shifting stocking trends, changing from massive introduction of trans-basin fish to more conservation-oriented strategies during the last 27 years. In a conservation context, we encourage pursuing the use of local wild grayling for supportive- and captive-breeding, but underline the need for genetic approaches in brood-stock selection programs. Finally, our integrated results from sibship reconstruction validate our strictly fry-based sampling scheme, thus offering a reasonable alternative also for other rheophilic fish species with similar life-history characteristics.

  5. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  6. New insights into prevalence, genetic diversity, and proviral load of human T-cell leukemia virus types 1 and 2 in pregnant women in Gabon in equatorial central Africa.

    Science.gov (United States)

    Etenna, Sonia Lekana-Douki; Caron, Mélanie; Besson, Guillaume; Makuwa, Maria; Gessain, Antoine; Mahé, Antoine; Kazanji, Mirdad

    2008-11-01

    Human T-cell leukemia virus type 1 (HTLV-1) is highly endemic in areas of central Africa; mother-to-child transmission and sexual transmission are considered to be the predominant routes. To determine the prevalence and subtypes of HTLV-1/2 in pregnant women in Gabon, we conducted an epidemiological survey in the five main cities of the country. In 907 samples, the HTLV-1 seroprevalence was 2.1%, which is lower than that previously reported. Only one case of HTLV-2 infection was found. The HTLV-1 seroprevalence increased with age and differed between regions (P cosmopolitan subtype A. The new strains of subtype B exhibited wide genetic diversity, but there was no evidence of clustering of specific genomes within geographical regions of the country. Some strains were closely related to simian T-cell leukemia virus type 1 strains of great apes, suggesting that in these areas some HTLV-1 strains could arise from relatively recent interspecies transmission. The sole HTLV-2 strain belonged to subtype B. In this study we showed that the prevalence of HTLV-1 in the southeast is one of the highest in the world for pregnant women.

  7. Simulating natural selection in landscape genetics

    Science.gov (United States)

    E. L. Landguth; S. A. Cushman; N. Johnson

    2012-01-01

    Linking landscape effects to key evolutionary processes through individual organism movement and natural selection is essential to provide a foundation for evolutionary landscape genetics. Of particular importance is determining how spatially- explicit, individual-based models differ from classic population genetics and evolutionary ecology models based on ideal...

  8. Social and cultural issues in genetic counselling

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Biosciences; Volume 40; Issue 2. Social and cultural issues in genetic counselling. Meenakshi Bhat. Perspectives Volume 40 Issue 2 June 2015 pp 217-220. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...

  9. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 5. Haldane and modern evolutionary genetics. BRIAN CHARLESWORTH. HALDANE AT 125 Volume 96 Issue 5 November 2017 pp 773-782. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jgen/096/05/0773-0782. Keywords.

  10. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 87; Issue 2. Genetic study of scheduled caste populations of Tamil Nadu. M. Vijaya S. Kanthimathi A. Ramesh. Research Note Volume 87 Issue 2 August 2008 pp 171-174. Fulltext. Click here to view fulltext PDF. Permanent link:

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. Deepali Pathak. Articles written in Journal of Genetics. Volume 94 Issue 4 December 2015 pp 677-687 Research Article. Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism · Deepali Pathak Sandeep Kumar Yadav Leena Rawal Sher ...

  12. Imaging-Genetics Applications in Child Psychiatry

    Science.gov (United States)

    Pine, Daniel S.; Ernst, Monique; Leibenluft, Ellen

    2010-01-01

    Objective: To place imaging-genetics research in the context of child psychiatry. Method: A conceptual overview is provided, followed by discussion of specific research examples. Results: Imaging-genetics research is described linking brain function to two specific genes, for the serotonin-reuptake-transporter protein and a monoamine oxidase…

  13. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... links) Baby's First Test GeneReview: Arginase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  14. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  15. Population Genetics of Phytophthora infestans

    DEFF Research Database (Denmark)

    Montes, Melanie Sarah

    a high diversity of lineages, with different strains appearing from field to field. Different strains were also tested for their resistance to the fungicide metalaxyl, and it was shown that there is potential for linking genetic markers to resistance. In a pilot study it was then tested whether P...

  16. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  17. Foot positioning instruction, initial vertical load position and lifting technique: effects on low back loading

    NARCIS (Netherlands)

    Kingma, I.; Bosch, T.; Bruins, L.; van Dieen, J.H.

    2004-01-01

    This study investigated the effects of initial load height and foot placement instruction in four lifting techniques: free, stoop (bending the back), squat (bending the knees) and a modified squat technique (bending the knees and rotating them outward). A 2D dynamic linked segment model was combined

  18. Concentrated loads on concrete

    DEFF Research Database (Denmark)

    Lorenzen, Karen Grøndahl; Nielsen, Mogens Peter

    1997-01-01

    This report deals with concentrated loads on concrete.A new upper bound solution in the axisymmetrical case of a point load in the center of the end face of a cylinder is developed.Based on previous work dealing with failure mechanisms and upper bound solutions, new approximate formulas are devel......This report deals with concentrated loads on concrete.A new upper bound solution in the axisymmetrical case of a point load in the center of the end face of a cylinder is developed.Based on previous work dealing with failure mechanisms and upper bound solutions, new approximate formulas...

  19. Critical Axial Load

    Directory of Open Access Journals (Sweden)

    Walt Wells

    2008-01-01

    Full Text Available Our objective in this paper is to solve a second order differential equation for a long, simply supported column member subjected to a lateral axial load using Heun's numerical method. We will use the solution to find the critical load at which the column member will fail due to buckling. We will calculate this load using Euler's derived analytical approach for an exact solution, as well as Euler's Numerical Method. We will then compare the three calculated values to see how much they deviate from one another. During the critical load calculation, it will be necessary to calculate the moment of inertia for the column member.

  20. Load regulating expansion fixture

    International Nuclear Information System (INIS)

    Wagner, L.M.; Strum, M.J.

    1998-01-01

    A free standing self contained device for bonding ultra thin metallic films, such as 0.001 inch beryllium foils is disclosed. The device will regulate to a predetermined load for solid state bonding when heated to a bonding temperature. The device includes a load regulating feature, whereby the expansion stresses generated for bonding are regulated and self adjusting. The load regulator comprises a pair of friction isolators with a plurality of annealed copper members located there between. The device, with the load regulator, will adjust to and maintain a stress level needed to successfully and economically complete a leak tight bond without damaging thin foils or other delicate components. 1 fig

  1. Laterally loaded masonry

    DEFF Research Database (Denmark)

    Raun Gottfredsen, F.

    In this thesis results from experiments on mortar joints and masonry as well as methods of calculation of strength and deformation of laterally loaded masonry are presented. The strength and deformation capacity of mortar joints have been determined from experiments involving a constant compressive...... stress and increasing shear. The results show a transition to pure friction as the cohesion is gradually destroyed. An interface model of a mortar joint that can take into account this aspect has been developed. Laterally loaded masonry panels have also been tested and it is found to be characteristic...... that laterally loaded masonry exhibits a non-linear load-displacement behaviour with some ductility....

  2. Electrical load modeling

    Energy Technology Data Exchange (ETDEWEB)

    Valgas, Helio Moreira; Pinto, Roberto del Giudice R.; Franca, Carlos [Companhia Energetica de Minas Gerais (CEMIG), Belo Horizonte, MG (Brazil); Lambert-Torres, Germano; Silva, Alexandre P. Alves da; Pires, Robson Celso; Costa, Junior, Roberto Affonso [Escola Federal de Engenharia de Itajuba, MG (Brazil)

    1994-12-31

    Accurate dynamic load models allow more precise calculations of power system controls and stability limits, which are critical mainly in the operation planning of power systems. This paper describes the development of a computer program (software) for static and dynamic load model studies using the measurement approach for the CEMIG system. Two dynamic load model structures are developed and tested. A procedure for applying a set of measured data from an on-line transient recording system to develop load models is described. (author) 6 refs., 17 figs.

  3. Increased Insulin following an Oral Glucose Load, Genetic Variation near the Melatonin Receptor MTNR1B, but No Biochemical Evidence of Endothelial Dysfunction in Young Asian Men and Women.

    Directory of Open Access Journals (Sweden)

    Maria A Matuszek

    Full Text Available To identify biochemical and genetic variation relating to increased risk of developing type 2 diabetes mellitus and cardiovascular disease in young, lean male and female adults of different ethnicities.Fasting blood and urine and non-fasting blood following oral glucose intake were analysed in 90 Caucasians, South Asians and South East/East Asians.There were no differences in age, birthweight, blood pressure, body mass index, percent body fat, total energy, percentage of macronutrient intake, microalbumin, leptin, cortisol, adrenocorticotropic hormone, nitric oxide metabolites, C-reactive protein, homocysteine, tumor necrosis factor-α, interleukin-6, von Willebrand factor, vascular cell adhesion molecule-1, plasminogen activator inhibitor-1, and tissue plasminogen activator. Fasting total cholesterol (P = .000, triglycerides (P = .050, low density lipoprotein (P = .009 and non-fasting blood glucose (15 min (P = .024 were elevated in South Asians compared with Caucasians, but there was no significant difference in glucose area under curve (AUC. Non-fasting insulin in South Asians (15-120 min, in South East/East Asians (60-120 min, and insulin AUC in South Asians and South East/East Asians, were elevated compared with Caucasians (P≤0.006. The molar ratio of C-peptide AUC/Insulin AUC (P = .045 and adiponectin (P = .037 were lower in South Asians compared with Caucasians. A significant difference in allele frequency distributions in Caucasians and South Asians was found for rs2166706 (P = 0.022 and rs10830963 (P = 0.009, which are both near the melatonin receptor MTNR1B.Elevated non-fasting insulin exists in young South Asians of normal fasting glucose and insulin. Hepatic clearance of insulin may be reduced in South Asians. No current biochemical evidence exists of endothelial dysfunction at this stage of development. MTNR1B signalling may be a useful therapeutic target in Asian populations in the prevention of type 2 diabetes mellitus.

  4. Increased Insulin following an Oral Glucose Load, Genetic Variation near the Melatonin Receptor MTNR1B, but No Biochemical Evidence of Endothelial Dysfunction in Young Asian Men and Women.

    Science.gov (United States)

    Matuszek, Maria A; Anton, Angelyn; Thillainathan, Sobana; Armstrong, Nicola J

    2015-01-01

    To identify biochemical and genetic variation relating to increased risk of developing type 2 diabetes mellitus and cardiovascular disease in young, lean male and female adults of different ethnicities. Fasting blood and urine and non-fasting blood following oral glucose intake were analysed in 90 Caucasians, South Asians and South East/East Asians. There were no differences in age, birthweight, blood pressure, body mass index, percent body fat, total energy, percentage of macronutrient intake, microalbumin, leptin, cortisol, adrenocorticotropic hormone, nitric oxide metabolites, C-reactive protein, homocysteine, tumor necrosis factor-α, interleukin-6, von Willebrand factor, vascular cell adhesion molecule-1, plasminogen activator inhibitor-1, and tissue plasminogen activator. Fasting total cholesterol (P = .000), triglycerides (P = .050), low density lipoprotein (P = .009) and non-fasting blood glucose (15 min) (P = .024) were elevated in South Asians compared with Caucasians, but there was no significant difference in glucose area under curve (AUC). Non-fasting insulin in South Asians (15-120 min), in South East/East Asians (60-120 min), and insulin AUC in South Asians and South East/East Asians, were elevated compared with Caucasians (P≤0.006). The molar ratio of C-peptide AUC/Insulin AUC (P = .045) and adiponectin (P = .037) were lower in South Asians compared with Caucasians. A significant difference in allele frequency distributions in Caucasians and South Asians was found for rs2166706 (P = 0.022) and rs10830963 (P = 0.009), which are both near the melatonin receptor MTNR1B. Elevated non-fasting insulin exists in young South Asians of normal fasting glucose and insulin. Hepatic clearance of insulin may be reduced in South Asians. No current biochemical evidence exists of endothelial dysfunction at this stage of development. MTNR1B signalling may be a useful therapeutic target in Asian populations in the prevention of type 2 diabetes mellitus.

  5. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

  6. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital ...

  7. Perceptual load-dependent neural correlates of distractor interference inhibition.

    Directory of Open Access Journals (Sweden)

    Jiansong Xu

    2011-01-01

    Full Text Available The load theory of selective attention hypothesizes that distractor interference is suppressed after perceptual processing (i.e., in the later stage of central processing at low perceptual load of the central task, but in the early stage of perceptual processing at high perceptual load. Consistently, studies on the neural correlates of attention have found a smaller distractor-related activation in the sensory cortex at high relative to low perceptual load. However, it is not clear whether the distractor-related activation in brain regions linked to later stages of central processing (e.g., in the frontostriatal circuits is also smaller at high rather than low perceptual load, as might be predicted based on the load theory.We studied 24 healthy participants using functional magnetic resonance imaging (fMRI during a visual target identification task with two perceptual loads (low vs. high. Participants showed distractor-related increases in activation in the midbrain, striatum, occipital and medial and lateral prefrontal cortices at low load, but distractor-related decreases in activation in the midbrain ventral tegmental area and substantia nigra (VTA/SN, striatum, thalamus, and extensive sensory cortices at high load.Multiple levels of central processing involving midbrain and frontostriatal circuits participate in suppressing distractor interference at either low or high perceptual load. For suppressing distractor interference, the processing of sensory inputs in both early and late stages of central processing are enhanced at low load but inhibited at high load.

  8. Perceptual load-dependent neural correlates of distractor interference inhibition.

    Science.gov (United States)

    Xu, Jiansong; Monterosso, John; Kober, Hedy; Balodis, Iris M; Potenza, Marc N

    2011-01-18

    The load theory of selective attention hypothesizes that distractor interference is suppressed after perceptual processing (i.e., in the later stage of central processing) at low perceptual load of the central task, but in the early stage of perceptual processing at high perceptual load. Consistently, studies on the neural correlates of attention have found a smaller distractor-related activation in the sensory cortex at high relative to low perceptual load. However, it is not clear whether the distractor-related activation in brain regions linked to later stages of central processing (e.g., in the frontostriatal circuits) is also smaller at high rather than low perceptual load, as might be predicted based on the load theory. We studied 24 healthy participants using functional magnetic resonance imaging (fMRI) during a visual target identification task with two perceptual loads (low vs. high). Participants showed distractor-related increases in activation in the midbrain, striatum, occipital and medial and lateral prefrontal cortices at low load, but distractor-related decreases in activation in the midbrain ventral tegmental area and substantia nigra (VTA/SN), striatum, thalamus, and extensive sensory cortices at high load. Multiple levels of central processing involving midbrain and frontostriatal circuits participate in suppressing distractor interference at either low or high perceptual load. For suppressing distractor interference, the processing of sensory inputs in both early and late stages of central processing are enhanced at low load but inhibited at high load.

  9. Safe genetically engineered plants

    Energy Technology Data Exchange (ETDEWEB)

    Rosellini, D; Veronesi, F [Dipartimento di Biologia Vegetale e Biotecnologie Agroambientali e Zootecniche, Universita degli Studi di Perugia, Borgo XX giugno 74, 06121 Perugia (Italy)

    2007-10-03

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  10. Safe genetically engineered plants

    International Nuclear Information System (INIS)

    Rosellini, D; Veronesi, F

    2007-01-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work

  11. Evolutionary genetics

    National Research Council Canada - National Science Library

    Maynard Smith, John

    1989-01-01

    .... It differs from other textbooks of population genetics in applying the basic theory to topics, such as social behaviour, molecular evolution, reiterated DNA, and sex, which are the main subjects...

  12. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  13. Visualisierung von typisierten Links in Linked Data

    Directory of Open Access Journals (Sweden)

    Georg Neubauer

    2017-09-01

    Full Text Available Das Themengebiet der Arbeit behandelt Visualisierungen von typisierten Links in Linked Data. Die wissenschaftlichen Gebiete, die im Allgemeinen den Inhalt des Beitrags abgrenzen, sind das Semantic Web, das Web of Data und Informationsvisualisierung. Das Semantic Web, das von Tim Berners Lee 2001 erfunden wurde, stellt eine Erweiterung zum World Wide Web (Web 2.0 dar. Aktuelle Forschungen beziehen sich auf die Verknüpfbarkeit von Informationen im World Wide Web. Um es zu ermöglichen, solche Verbindungen wahrnehmen und verarbeiten zu können sind Visualisierungen die wichtigsten Anforderungen als Hauptteil der Datenverarbeitung. Im Zusammenhang mit dem Sematic Web werden Repräsentationen von zuhammenhängenden Informationen anhand von Graphen gehandhabt. Der Grund des Entstehens dieser Arbeit ist in erster Linie die Beschreibung der Gestaltung von Linked Data-Visualisierungskonzepten, deren Prinzipien im Rahmen einer theoretischen Annäherung eingeführt werden. Anhand des Kontexts führt eine schrittweise Erweiterung der Informationen mit dem Ziel, praktische Richtlinien anzubieten, zur Vernetzung dieser ausgearbeiteten Gestaltungsrichtlinien. Indem die Entwürfe zweier alternativer Visualisierungen einer standardisierten Webapplikation beschrieben werden, die Linked Data als Netzwerk visualisiert, konnte ein Test durchgeführt werden, der deren Kompatibilität zum Inhalt hatte. Der praktische Teil behandelt daher die Designphase, die Resultate, und zukünftige Anforderungen des Projektes, die durch die Testung ausgearbeitet wurden.

  14. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  15. Load Balancing in Hypergraphs

    Science.gov (United States)

    Delgosha, Payam; Anantharam, Venkat

    2018-03-01

    Consider a simple locally finite hypergraph on a countable vertex set, where each edge represents one unit of load which should be distributed among the vertices defining the edge. An allocation of load is called balanced if load cannot be moved from a vertex to another that is carrying less load. We analyze the properties of balanced allocations of load. We extend the concept of balancedness from finite hypergraphs to their local weak limits in the sense of Benjamini and Schramm (Electron J Probab 6(23):13, 2001) and Aldous and Steele (in: Probability on discrete structures. Springer, Berlin, pp 1-72, 2004). To do this, we define a notion of unimodularity for hypergraphs which could be considered an extension of unimodularity in graphs. We give a variational formula for the balanced load distribution and, in particular, we characterize it in the special case of unimodular hypergraph Galton-Watson processes. Moreover, we prove the convergence of the maximum load under some conditions. Our work is an extension to hypergraphs of Anantharam and Salez (Ann Appl Probab 26(1):305-327, 2016), which considered load balancing in graphs, and is aimed at more comprehensively resolving conjectures of Hajek (IEEE Trans Inf Theory 36(6):1398-1414, 1990).

  16. Structural load combinations

    International Nuclear Information System (INIS)

    Hwang, H.; Reich, M.; Ellingwood, B.; Shinozuka, M.

    1985-01-01

    This paper presents the latest results of the program entitled, ''Probability Based Load Combinations For Design of Category I Structures''. In FY 85, a probability-based reliability analysis method has been developed to evaluate safety of shear wall structures. The shear walls are analyzed using stick models with beam elements and may be subjected to dead load, live load and in-plane eqrthquake. Both shear and flexure limit states are defined analytically. The limit state probabilities can be evaluated on the basis of these limit states. Utilizing the reliability analysis method mentioned above, load combinations for the design of shear wall structures have been established. The proposed design criteria are in the load and resistance factor design (LRFD) format. In this study, the resistance factors for shear and flexure and load factors for dead and live loads are preassigned, while the load factor for SSE is determined for a specified target limit state probability of 1.0 x 10 -6 or 1.0 x 10 -5 during a lifetime of 40 years. 23 refs., 9 tabs

  17. Load Induced Blindness

    Science.gov (United States)

    Macdonald, James S. P.; Lavie, Nilli

    2008-01-01

    Although the perceptual load theory of attention has stimulated a great deal of research, evidence for the role of perceptual load in determining perception has typically relied on indirect measures that infer perception from distractor effects on reaction times or neural activity (see N. Lavie, 2005, for a review). Here we varied the level of…

  18. Structural load combinations

    International Nuclear Information System (INIS)

    Hwang, H.; Reich, M.; Ellingwood, B.; Shinozuka, M.

    1986-01-01

    This paper presents the latest results of the program entitled, ''Probability Based Load Combinations For Design of Category I Structures''. In FY 85, a probability-based reliability analysis method has been developed to evaluate safety of shear wall structures. The shear walls are analyzed using stick models with beam elements and may be subjected to dead load, live load and in-plane earthquake. Both shear and flexure limit states are defined analytically. The limit state probabilities can be evaluated on the basis of these limit states. Utilizing the reliability analysis method mentioned above, load combinations for the design of shear wall structures have been established. The proposed design criteria are in the load and resistance factor design (LRFD) format. In this study, the resistance factors for shear and flexure and load factors for dead and live loads are preassigned, while the load factor for SSE is determined for a specified target limit state probability of 1.0 x 10 -6 or 1.0 x 10 -5 during a lifetime of 40 years

  19. Load event: Aircraft crash

    International Nuclear Information System (INIS)

    Fritsch, H.

    1985-01-01

    The bibliography includes 48 quotations, up to the year 1983, on the following issues: Experiments and computational methods. Design load for the dimensioning of reinforced concrete buildings and components with respect to the dynamic load in the event of an aircraft crash. (orig./HP) [de

  20. Cardiorespiratory interactions during resistive load breathing.

    Science.gov (United States)

    Calabrese, P; Perrault, H; Dinh, T P; Eberhard, A; Benchetrit, G

    2000-12-01

    The addition to the respiratory system of a resistive load results in breathing pattern changes and in negative intrathoracic pressure increases. The aim of this study was to use resistive load breathing as a stimulus to the cardiorespiratory interaction and to examine the extent of the changes in heart rate variability (HRV) and respiratory sinus arrhythmia (RSA) in relation to the breathing pattern changes. HRV and RSA were studied in seven healthy subjects where four resistive loads were applied in a random order during the breath and 8-min recording made in each condition. The HRV spectral power components were computed from the R-R interval sequences, and the RSA amplitude and phase were computed from the sinusoid fitting the instantaneous heart rate within each breath. Adding resistive loads resulted in 1) increasing respiratory period, 2) unchanging heart rate, and 3) increasing HRV and changing RSA characteristics. HRV and RSA characteristics are linearly correlated to the respiratory period. These modifications appear to be linked to load-induced changes in the respiratory period in each individual, because HRV and RSA characteristics are similar at a respiratory period obtained either by loading or by imposed frequency breathing. The present results are discussed with regard to the importance of the breathing cycle duration in these cardiorespiratory interactions, suggesting that these interactions may depend on the time necessary for activation and dissipation of neurotransmitters involved in RSA.

  1. Linking open vocabularies

    CERN Document Server

    Greifender, Elke; Seadle, Michael

    2013-01-01

    Linked Data (LD), Linked Open Data (LOD) and generating a web of data, present the new knowledge sharing frontier. In a philosophical context, LD is an evolving environment that reflects humankinds' desire to understand the world by drawing on the latest technologies and capabilities of the time. LD, while seemingly a new phenomenon did not emerge overnight; rather it represents the natural progression by which knowledge structures are developed, used, and shared. Linked Open Vocabularies is a significant trajectory of LD. Linked Open Vocabularies targets vocabularies that have traditionally b

  2. Refinement of the localization of the X-linked ocular albinism gene

    NARCIS (Netherlands)

    Bergen, A. A.; Zijp, P.; Schuurman, E. J.; Bleeker-Wagemakers, E. M.; Apkarian, P.; van Ommen, G. J.

    1993-01-01

    Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1,

  3. Neighborhood perceptions and allostatic load

    DEFF Research Database (Denmark)

    van Deurzen, Ioana; Rod, Naja Hulvej; Christensen, Ulla

    2016-01-01

    An influential argument explaining why living in certain neighborhoods can become harmful to one's health maintains that individuals can perceive certain characteristics of the neighborhood as threatening and the prolonged exposure to a threatening environment could induce chronic stress. Following...... this line of argumentation, in the present study we test whether subjective perceptions of neighborhood characteristics relate to an objective measure of stress-related physiological functioning, namely allostatic load (AL). We use a large dataset of 5280 respondents living in different regions of Denmark...... and we account for two alternative mechanisms, i.e., the objective characteristics of the living environment and the socio-economic status of individuals. Our results support the chronic stress mechanisms linking neighborhood quality to health. Heightened perceptions of disorder and pollution were found...

  4. Impaired sleep and allostatic load

    DEFF Research Database (Denmark)

    Clark, Alice Jessie; Dich, Nadya; Lange, Theis

    2014-01-01

    Objective: Understanding the mechanisms linking sleep impairment to morbidity and mortality is important for future prevention, but these mechanisms are far from elucidated. We aimed to determine the relation between impaired sleep, both in terms of duration and disturbed sleep, and allostatic load...... Biobank with comprehensive information on sleep duration, disturbed sleep, objective measures of an extensive range of biological risk markers, and physical conditions. Results: Long sleep (mean difference 0.23; 95% confidence interval, 0.13, 0.32) and disturbed sleep (0.14; 0.06, 0.22) were associated...... with higher AL as well as with high-risk levels of risk markers from the anthropometric, metabolic, and immune system. Sub-analyses suggested that the association between disturbed sleep and AL might be explained by underlying disorders. Whereas there was no association between short sleep and AL...

  5. Optimal load scheduling in commercial and residential microgrids

    Science.gov (United States)

    Ganji Tanha, Mohammad Mahdi

    Residential and commercial electricity customers use more than two third of the total energy consumed in the United States, representing a significant resource of demand response. Price-based demand response, which is in response to changes in electricity prices, represents the adjustments in load through optimal load scheduling (OLS). In this study, an efficient model for OLS is developed for residential and commercial microgrids which include aggregated loads in single-units and communal loads. Single unit loads which include fixed, adjustable and shiftable loads are controllable by the unit occupants. Communal loads which include pool pumps, elevators and central heating/cooling systems are shared among the units. In order to optimally schedule residential and commercial loads, a community-based optimal load scheduling (CBOLS) is proposed in this thesis. The CBOLS schedule considers hourly market prices, occupants' comfort level, and microgrid operation constraints. The CBOLS' objective in residential and commercial microgrids is the constrained minimization of the total cost of supplying the aggregator load, defined as the microgrid load minus the microgrid generation. This problem is represented by a large-scale mixed-integer optimization for supplying single-unit and communal loads. The Lagrangian relaxation methodology is used to relax the linking communal load constraint and decompose the independent single-unit functions into subproblems which can be solved in parallel. The optimal solution is acceptable if the aggregator load limit and the duality gap are within the bounds. If any of the proposed criteria is not satisfied, the Lagrangian multiplier will be updated and a new optimal load schedule will be regenerated until both constraints are satisfied. The proposed method is applied to several case studies and the results are presented for the Galvin Center load on the 16th floor of the IIT Tower in Chicago.

  6. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  7. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  8. Ricebase: a breeding and genetics platform for rice, integrating individual molecular markers, pedigrees and whole-genome-based data.

    Science.gov (United States)

    Edwards, J D; Baldo, A M; Mueller, L A

    2016-01-01

    Ricebase (http://ricebase.org) is an integrative genomic database for rice (Oryza sativa) with an emphasis on combining datasets in a way that maintains the key links between past and current genetic studies. Ricebase includes DNA sequence data, gene annotations, nucleotide variation data and molecular marker fragment size data. Rice research has benefited from early adoption and extensive use of simple sequence repeat (SSR) markers; however, the majority of rice SSR markers were developed prior to the latest rice pseudomolecule assembly. Interpretation of new research using SNPs in the context of literature citing SSRs requires a common coordinate system. A new pipeline, using a stepwise relaxation of stringency, was used to map SSR primers onto the latest rice pseudomolecule assembly. The SSR markers and experimentally assayed amplicon sizes are presented in a relational database with a web-based front end, and are available as a track loaded in a genome browser with links connecting the browser and database. The combined capabilities of Ricebase link genetic markers, genome context, allele states across rice germplasm and potentially user curated phenotypic interpretations as a community resource for genetic discovery and breeding in rice. Published by Oxford University Press 2016. This work is written by US Government employees and is in the public domain in the United States.

  9. GENETIC ASPECTS OF SPORTS PERFORMANCE

    Directory of Open Access Journals (Sweden)

    Fatma Ebru KOKU

    2015-03-01

    Full Text Available As participation in both amateur and professional sports increases, so does the importance of sports performance and the factors influencing it. Determinants of success in sports can be classified as training, genetic, epigenetic, dietary, motivational, equipment and other environmental factors. The effect of genetics on sports performance and skill has been examined for many years. Autosomal genes, mitochondrial DNA and various genes located in the Y chromosome have all been associated with sports performance. It is not possible to link physical performance to a single genetic polymorphism. Genes that have been most extensively studied in their relation to performance include ACE, ACTN3, ADRA2A, ADRB2, PPARA, PPARGC1A, AMPD1, HIF1A, NOS3, BDKRB2, VEGFR2 and VEGFA. For the time being, genetic screening tests may be useful in determining the weaknesses and strengths of a sportsperson, but not in predicting athletic success.

  10. Determinación de cargas dinámicas de camiones pesados que transitan en un puente basado en algoritmos genéticos e instrumentación Genetic algorithms and instrumentation determination of dynamic loads of heavy trucks over a bridge

    Directory of Open Access Journals (Sweden)

    Edgar Muñoz

    2011-12-01

    Full Text Available Esta investigación determina las cargas por eje de los camiones que circulan por un puente ubicado en una de las vías principales de Colombia, utilizando la técnica de control BWIM (Bridge Weight in Motion, no empleada antes en el País. Nuestro grupo de investigación implementó la Metodología de los Algoritmos genéticos, instrumentación y monitoreo, para el Puente denominado Boquerón en la vía Bogotá - Villavicencio, Colombia. Para ese fin, se instrumentaron cuatro vigas con un sistema electrónico de medición de tráfico en cada carril, además de un sistema de adquisición de datos y ensayos de laboratorio. Desarrollamos la calibración de su modelo estructural y la generación de funciones matemáticas para hacer converger líneas de influencias de cargas con pruebas experimentales y así determinar las cargas en movimiento de los camiones. En adición, se desarrolló una herramienta computacional, capaz de representar con aceptable precisión las cargas en movimiento.This research determines the axle loads of trucks traveling on a bridge located in one of the most important corridors of Colombia, using the technique of control BWIM (Bridge Weight in Motion, not used before in the country. Our research group developed a Genetic Algorithm based in a trial test, implementation and monitoring to the bridge called Boquerón of Colombian Highways (Bogota - Villavicencio. For such an effort, four girders were monitored by data acquisition electronics joined by an electronic traffic log device by lane accompanied of laboratory testing for materials. Model calibration was performed by mathematical approach of in-situ influence lines compared to those obtained by modeling, giving as outcome loads of moving trucks over the bridge. In addition, we developed a computational tool, able to represent with reasonable accuracy the moving loads.

  11. Bit Loading Algorithms for Cooperative OFDM Systems

    Directory of Open Access Journals (Sweden)

    Gui Bo

    2008-01-01

    Full Text Available Abstract We investigate the resource allocation problem for an OFDM cooperative network with a single source-destination pair and multiple relays. Assuming knowledge of the instantaneous channel gains for all links in the entire network, we propose several bit and power allocation schemes aiming at minimizing the total transmission power under a target rate constraint. First, an optimal and efficient bit loading algorithm is proposed when the relay node uses the same subchannel to relay the information transmitted by the source node. To further improve the performance gain, subchannel permutation, in which the subchannels are reallocated at relay nodes, is considered. An optimal subchannel permutation algorithm is first proposed and then an efficient suboptimal algorithm is considered to achieve a better complexity-performance tradeoff. A distributed bit loading algorithm is also proposed for ad hoc networks. Simulation results show that significant performance gains can be achieved by the proposed bit loading algorithms, especially when subchannel permutation is employed.

  12. Bit Loading Algorithms for Cooperative OFDM Systems

    Directory of Open Access Journals (Sweden)

    Bo Gui

    2007-12-01

    Full Text Available We investigate the resource allocation problem for an OFDM cooperative network with a single source-destination pair and multiple relays. Assuming knowledge of the instantaneous channel gains for all links in the entire network, we propose several bit and power allocation schemes aiming at minimizing the total transmission power under a target rate constraint. First, an optimal and efficient bit loading algorithm is proposed when the relay node uses the same subchannel to relay the information transmitted by the source node. To further improve the performance gain, subchannel permutation, in which the subchannels are reallocated at relay nodes, is considered. An optimal subchannel permutation algorithm is first proposed and then an efficient suboptimal algorithm is considered to achieve a better complexity-performance tradeoff. A distributed bit loading algorithm is also proposed for ad hoc networks. Simulation results show that significant performance gains can be achieved by the proposed bit loading algorithms, especially when subchannel permutation is employed.

  13. Load Balancing Scientific Applications

    Energy Technology Data Exchange (ETDEWEB)

    Pearce, Olga Tkachyshyn [Texas A & M Univ., College Station, TX (United States)

    2014-12-01

    The largest supercomputers have millions of independent processors, and concurrency levels are rapidly increasing. For ideal efficiency, developers of the simulations that run on these machines must ensure that computational work is evenly balanced among processors. Assigning work evenly is challenging because many large modern parallel codes simulate behavior of physical systems that evolve over time, and their workloads change over time. Furthermore, the cost of imbalanced load increases with scale because most large-scale scientific simulations today use a Single Program Multiple Data (SPMD) parallel programming model, and an increasing number of processors will wait for the slowest one at the synchronization points. To address load imbalance, many large-scale parallel applications use dynamic load balance algorithms to redistribute work evenly. The research objective of this dissertation is to develop methods to decide when and how to load balance the application, and to balance it effectively and affordably. We measure and evaluate the computational load of the application, and develop strategies to decide when and how to correct the imbalance. Depending on the simulation, a fast, local load balance algorithm may be suitable, or a more sophisticated and expensive algorithm may be required. We developed a model for comparison of load balance algorithms for a specific state of the simulation that enables the selection of a balancing algorithm that will minimize overall runtime.

  14. Status of load management

    Energy Technology Data Exchange (ETDEWEB)

    Juchymenko, A

    1983-08-01

    A summary is presented of the status of load management, defined as any activity by an electric utility to affect the size and characteristics of its load. Load management is currently viewed by electric utilities as an important tool for marketing electricity in a competitive fuel situation. A major aim of the National Energy Program is to reduce Canada's dependence on oil by 1990 to 10% of the energy used by all markets. As a result, electricity may play a greater role in the supply of primary energy. Research in load management has been directed mostly towards the residential market, especially direct control of domestic hot water heaters and air conditioners. Studies conducted in Canada and the U.S. to determine user's receptiveness to direct control of loads and thermal energy storage systems indicate that these load management techniques are in most cases not acceptable to customers, who prefer voluntary reduction in demand. The potential exists in the industrial market to use load management to assist in electrifying many of the fossil fuel-fired processes at competitive energy prices. Some of the more important applications include an industrial heat pump to heat liquids to 120{degree}C, induction heating for melting and heat treating of metals, and mechanical vapor recompression equipment to produce proces steam. 21 refs., 2 figs., 2 tabs.

  15. Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics

    Directory of Open Access Journals (Sweden)

    Burren Oliver S

    2004-01-01

    Full Text Available Abstract The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration of databases, genome informatics and genetic analyses in an easily updated and scaleable format. To find genes involved in multifactorial diseases such as type 1 diabetes (T1D, chromosome regions are defined based on functional candidate gene content, linkage information from humans and animal model mapping information. For each region, genomic information is extracted from Ensembl, converted and loaded into ACeDB for manual gene annotation. Homology information is examined using ACeDB tools and the gene structure verified. Manually curated genes are extracted from ACeDB and read into the feature database, which holds relevant local genomic feature data and an audit trail of laboratory investigations. Public domain information, manually curated genes, polymorphisms, primers, linkage and association analyses, with links to our genotyping database, are shown in Gbrowse. This system scales to include genetic, statistical, quality control (QC and biological data such as expression analyses of RNA or protein, all linked from a genomics integrative display. Our system is applicable to any genetic study of complex disease, of either large or small scale.

  16. Let's "Downscale" Linked Data

    NARCIS (Netherlands)

    Gueret, C.D.M.; de Boer, V.; Schlobach, K.S.

    2014-01-01

    Open data policies and linked data publication are powerful tools for increasing transparency, participatory governance, and accountability. The linked data community proudly emphasizes the economic and societal impact such technology shows. But a closer look proves that the design and deployment of

  17. Let's "Downscale" Linked Data

    NARCIS (Netherlands)

    Gueret, Christophe; de Boer, Victor; Schlobach, Stefan

    2014-01-01

    Open data policies and linked data publication are powerful tools for increasing transparency, participatory governance, and accountability. A closer look at linked data technologies, however, proves that their design and deployment exclude the majority of the world’s population. It will take small

  18. Weierstrass polynomials for links

    DEFF Research Database (Denmark)

    Hansen, Vagn Lundsgaard

    1997-01-01

    There is a natural way of identifying links in3-space with polynomial covering spaces over thecircle. Thereby any link in 3-space can be definedby a Weierstrass polynomial over the circle. Theequivalence relation for covering spaces over thecircle is, however, completely different from...

  19. Unsupervised/supervised learning concept for 24-hour load forecasting

    Energy Technology Data Exchange (ETDEWEB)

    Djukanovic, M [Electrical Engineering Inst. ' Nikola Tesla' , Belgrade (Yugoslavia); Babic, B [Electrical Power Industry of Serbia, Belgrade (Yugoslavia); Sobajic, D J; Pao, Y -H [Case Western Reserve Univ., Cleveland, OH (United States). Dept. of Electrical Engineering and Computer Science

    1993-07-01

    An application of artificial neural networks in short-term load forecasting is described. An algorithm using an unsupervised/supervised learning concept and historical relationship between the load and temperature for a given season, day type and hour of the day to forecast hourly electric load with a lead time of 24 hours is proposed. An additional approach using functional link net, temperature variables, average load and last one-hour load of previous day is introduced and compared with the ANN model with one hidden layer load forecast. In spite of limited available weather variables (maximum, minimum and average temperature for the day) quite acceptable results have been achieved. The 24-hour-ahead forecast errors (absolute average) ranged from 2.78% for Saturdays and 3.12% for working days to 3.54% for Sundays. (Author)

  20. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  1. Contribution of genetics to ecological restoration.

    Science.gov (United States)

    Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

    2015-01-01

    Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration. © 2014 John Wiley & Sons Ltd.

  2. Refining and defining riverscape genetics: How rivers influence population genetic structure

    Science.gov (United States)

    Chanté D. Davis; Clinton W. Epps; Rebecca L. Flitcroft; Michael A. Banks

    2018-01-01

    Traditional analysis in population genetics evaluates differences among groups of individuals and, in some cases, considers the effects of distance or potential barriers to gene flow. Genetic variation of organisms in complex landscapes, seascapes, or riverine systems, however, may be shaped by many forces. Recent research has linked habitat heterogeneity and landscape...

  3. Lumbriculus variegatus loading study

    Data.gov (United States)

    U.S. Environmental Protection Agency — Results from sediment bioaccumulation tests with Lumbriculus variegatus with evaluating the effects of organism loading density. This dataset is associated with the...

  4. LOADING SIMULATION PROGRAM C

    Science.gov (United States)

    LSPC is the Loading Simulation Program in C++, a watershed modeling system that includes streamlined Hydrologic Simulation Program Fortran (HSPF) algorithms for simulating hydrology, sediment, and general water quality

  5. LOADING SIMULATION PROGRAM C

    Data.gov (United States)

    U.S. Environmental Protection Agency — LSPC is the Loading Simulation Program in C++, a watershed modeling system that includes streamlined Hydrologic Simulation Program Fortran (HSPF) algorithms for...

  6. Cognitive load theory

    NARCIS (Netherlands)

    Kirschner, Paul A.; Kirschner, Femke; Paas, Fred

    2010-01-01

    Kirschner, P. A., Kirschner, F. C., & Paas, F. (2009). Cognitive load theory. In E. M. Anderman & L. H. Anderman (Eds.). Psychology of classroom learning: An encyclopedia, Volume 1, a-j (pp. 205-209). Detroit, MI: Macmillan Reference.

  7. Static Loads Test Facility

    Data.gov (United States)

    Federal Laboratory Consortium — FUNCTION: Provides the capability to perform large-scale structural loads testing on spacecraft and other structures. Results from these tests can be used to verify...

  8. Load proportional safety brake

    Science.gov (United States)

    Cacciola, M. J.

    1979-01-01

    This brake is a self-energizing mechanical friction brake and is intended for use in a rotary drive system. It incorporates a torque sensor which cuts power to the power unit on any overload condition. The brake is capable of driving against an opposing load or driving, paying-out, an aiding load in either direction of rotation. The brake also acts as a no-back device when torque is applied to the output shaft. The advantages of using this type of device are: (1) low frictional drag when driving; (2) smooth paying-out of an aiding load with no runaway danger; (3) energy absorption proportional to load; (4) no-back activates within a few degrees of output shaft rotation and resets automatically; and (5) built-in overload protection.

  9. Plug Load Data

    Data.gov (United States)

    National Aeronautics and Space Administration — We provide MATLAB binary files (.mat) and comma separated values files of data collected from a pilot study of a plug load management system that allows for the...

  10. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  11. Load power device, system and method of load control and management employing load identification

    Science.gov (United States)

    Yang, Yi; Luebke, Charles John; Schoepf, Thomas J.

    2018-01-09

    A load power device includes a power input, at least one power output for at least one load, a plurality of sensors structured to sense voltage and current at the at least one power output, and a processor. The processor provides: (a) load identification based upon the sensed voltage and current, and (b) load control and management based upon the load identification.

  12. New Genetics

    Science.gov (United States)

    ... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

  13. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  14. Genetic analysis

    NARCIS (Netherlands)

    Koornneef, M.; Alonso-Blanco, C.; Stam, P.

    2006-01-01

    The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance

  15. Molecular genetics

    International Nuclear Information System (INIS)

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

  16. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  17. Causal Genetic Variation Underlying Metabolome Differences.

    Science.gov (United States)

    Swain-Lenz, Devjanee; Nikolskiy, Igor; Cheng, Jiye; Sudarsanam, Priya; Nayler, Darcy; Staller, Max V; Cohen, Barak A

    2017-08-01

    An ongoing challenge in biology is to predict the phenotypes of individuals from their genotypes. Genetic variants that cause disease often change an individual's total metabolite profile, or metabolome. In light of our extensive knowledge of metabolic pathways, genetic variants that alter the metabolome may help predict novel phenotypes. To link genetic variants to changes in the metabolome, we studied natural variation in the yeast Saccharomyces cerevisiae We used an untargeted mass spectrometry method to identify dozens of metabolite Quantitative Trait Loci (mQTL), genomic regions containing genetic variation that control differences in metabolite levels between individuals. We mapped differences in urea cycle metabolites to genetic variation in specific genes known to regulate amino acid biosynthesis. Our functional assays reveal that genetic variation in two genes, AUA1 and ARG81 , cause the differences in the abundance of several urea cycle metabolites. Based on knowledge of the urea cycle, we predicted and then validated a new phenotype: sensitivity to a particular class of amino acid isomers. Our results are a proof-of-concept that untargeted mass spectrometry can reveal links between natural genetic variants and metabolome diversity. The interpretability of our results demonstrates the promise of using genetic variants underlying natural differences in the metabolome to predict novel phenotypes from genotype. Copyright © 2017 by the Genetics Society of America.

  18. Link to paper

    Data.gov (United States)

    U.S. Environmental Protection Agency — Link to the paper. This dataset is associated with the following publication: Naile, J., A.W. Garrison, J. Avants, and J. Washington. Isomers/enantiomers of...

  19. The Missing Link

    DEFF Research Database (Denmark)

    Schultz, Laura Luise

    2014-01-01

    Paper presented at A Valentine to Gertrude Stein. The Reception of Gertrude Stein in the Arts and Humanities, held at the University of Copenhagen 8. - 10. May 2014, in collaboration with the universities of Ghent and Linköping......Paper presented at A Valentine to Gertrude Stein. The Reception of Gertrude Stein in the Arts and Humanities, held at the University of Copenhagen 8. - 10. May 2014, in collaboration with the universities of Ghent and Linköping...

  20. Closely linked polymorphic marker: successful application in preimplantation genetic diagnosis for beta-thalassemia%紧密连锁的多态性位点在β地中海贫血植入前遗传学诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    邓捷; 庄广伦; 彭文林; 周灿权; 李洁; 方丛; 李穗萍; 陈勇; 童大跃

    2005-01-01

    目的探讨与β珠蛋白基因紧密连锁的多态性位点 HumTH01在β地中海贫血(β地贫)植入前遗传学诊断(preimplantation genetic diagnosis,PGD)中的作用.方法对4例已出生重型β地贫患儿的、双方均为β地贫基因携带者的夫妇进行了6个周期的PGD治疗,应用多重巢式PCR同时检测β珠蛋白基因及 HumTH01基因,选择健康的胚胎移植入子宫.结果 6个周期共活检44个胚胎,获得44个卵裂球,其中41个卵裂球扩增成功,35个胚胎经PCR分析后获得明确诊断,移植了14个胚胎,获得1例临床妊娠.孕17周时经脐带血穿刺,证实为完全正常胚胎,现已出生一正常女婴.单个卵裂球平均扩增效率为89.7%,等位基因脱扣(allele drop-out, ADO)率为14.4%. HumTH01基因可以帮助检测出ADO及污染的发生.结论本研究为国内首次报道应用多重巢式PCR同时检测β珠蛋白基因及 HumTH01基因对β地贫进行植入前遗传学诊断并成功获得临床妊娠.在PGD中同时检测与β珠蛋白基因紧密连锁的多态性位点可以降低PGD中由于ADO及污染造成的误诊的风险.%Objective To evaluate the applicability of the polymorphic marker closely linked with beta-globin gene for the preimplantati on genetic diagnosis (PGD) in couples at risk of having child with beta-thalassemia. Methods Single cell multiplex nested PCR which coamplifies the beta-globin gene and the closely linked polymorphic marker, HumTHO1 gene, was applied in six clinical PGD cycles for four couples with beta-thalassemia. Results In six clinical PGD cycles, a total of 44 embryos were biopsied and 44 blastomeres were obtained. Forty-one blastomeres were amplified and thirty-five embryos were given definite diagnoses. Fourteen embryos were transferred back to the uterus of the patients and one pregnancy went on well and ended with one live healthy birth, which confirmed the results of PGD. The average amplification efficiency of single blastomere was 89.7% and

  1. First attempts of linking modelling, Postharvest behaviour and Melon Genetics

    NARCIS (Netherlands)

    Tijskens, L.M.M.; Santos, Don N.; Obando-Ulloa, J.M.; Moreno, E.; Schouten, R.E.

    2008-01-01

    The onset of climacteric is associated with the end of melon fruit shelf-life. The aim of this research was to develop practical and applicable models of fruit ripening changes (hardness, moisture loss) also able to discriminate between climacteric and non-climacteric behaviour. The decrease in

  2. Genetics Home Reference: X-linked myotubular myopathy

    Science.gov (United States)

    ... 25 [updated 2011 Oct 6]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  3. Genetics Home Reference: X-linked infantile nystagmus

    Science.gov (United States)

    ... 12 [updated 2011 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  4. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    ... 13 [updated 2015 Apr 23]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  5. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    Science.gov (United States)

    ... 20 [updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  6. Genetics Home Reference: X-linked chondrodysplasia punctata 1

    Science.gov (United States)

    ... 22 [updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Molecular and genetic substrates linking stress and addiction.

    Science.gov (United States)

    Briand, Lisa A; Blendy, Julie A

    2010-02-16

    Drug addiction is one of the top three health concerns in the United States in terms of economic and health care costs. Despite this, there are very few effective treatment options available. Therefore, understanding the causes and molecular mechanisms underlying the transition from casual drug use to compulsive drug addiction could aid in the development of treatment options. Studies in humans and animal models indicate that stress can lead to both vulnerability to develop addiction, and increased drug taking and relapse in addicted individuals. Exposure to stress or drugs of abuse results in long-term adaptations in the brain that are likely to involve persistent alterations in gene expression or activation of transcription factors, such as the cAMP Response Element Binding (CREB) protein. The signaling pathways controlled by CREB have been strongly implicated in drug addiction and stress. Many potential CREB target genes have been identified based on the presence of a CRE element in promoter DNA sequences. These include, but are not limited to CRF, BDNF, and dynorphin. These genes have been associated with initiation or reinstatement of drug reward and are altered in one direction or the other following stress. While many reviews have examined the interactions between stress and addiction, the goal of this review was to focus on specific molecules that play key roles in both stress and addiction and are therefore posed to mediate the interaction between the two. Focus on these molecules could provide us with new targets for pharmacological treatments for addiction. Copyright 2009 Elsevier B.V. All rights reserved.

  8. Genetics Home Reference: X-linked chondrodysplasia punctata 2

    Science.gov (United States)

    ... thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine ( ... tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. ...

  9. Questioning South Africa's 'genetic link' requirement for surrogacy

    African Journals Online (AJOL)

    2014-05-02

    May 2, 2014 ... currently being made against SA's Minister of Social Development, who supports ... them in favour of overhauling human nature towards something allegedly .... intelligence, memory, patience, beauty and related traits that tend ..... sharing a way of life with others and caring for others' quality of life. That is, it ...

  10. Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

    Science.gov (United States)

    McNally, Elizabeth M; Puckelwartz, Megan J

    2015-01-01

    With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

  11. Nature Versus Nurture: Does Proteostasis Imbalance Underlie the Genetic, Environmental, and Age-Related Risk Factors for Alzheimer's Disease?

    Science.gov (United States)

    Kikis, Elise A

    2017-08-22

    Aging is a risk factor for a number of "age-related diseases", including Alzheimer's disease (AD). AD affects more than a third of all people over the age of 85, and is the leading cause of dementia worldwide. Symptoms include forgetfulness, memory loss, and cognitive decline, ultimately resulting in the need for full-time care. While there is no cure for AD, pharmacological approaches to alleviate symptoms and target underlying causes of the disease have been developed, albeit with limited success. This review presents the age-related, genetic, and environmental risk factors for AD and proposes a hypothesis for the mechanistic link between genetics and the environment. In short, much is known about the genetics of early-onset familial AD (EO-FAD) and the central role played by the Aβ peptide and protein misfolding, but late-onset AD (LOAD) is not thought to have direct genetic causes. Nonetheless, genetic risk factors such as isoforms of the protein ApoE have been identified. Additional findings suggest that air pollution caused by the combustion of fossil fuels may be an important environmental risk factor for AD. A hypothesis suggesting that poor air quality might act by disrupting protein folding homeostasis (proteostasis) is presented.

  12. Linked Ocean Data

    Science.gov (United States)

    Leadbetter, Adam; Arko, Robert; Chandler, Cynthia; Shepherd, Adam

    2014-05-01

    "Linked Data" is a term used in Computer Science to encapsulate a methodology for publishing data and metadata in a structured format so that links may be created and exploited between objects. Berners-Lee (2006) outlines the following four design principles of a Linked Data system: Use Uniform Resource Identifiers (URIs) as names for things. Use HyperText Transfer Protocol (HTTP) URIs so that people can look up those names. When someone looks up a URI, provide useful information, using the standards (Resource Description Framework [RDF] and the RDF query language [SPARQL]). Include links to other URIs so that they can discover more things. In 2010, Berners-Lee revisited his original design plan for Linked Data to encourage data owners along a path to "good Linked Data". This revision involved the creation of a five star rating system for Linked Data outlined below. One star: Available on the web (in any format). Two stars: Available as machine-readable structured data (e.g. An Excel spreadsheet instead of an image scan of a table). Three stars: As two stars plus the use of a non-proprietary format (e.g. Comma Separated Values instead of Excel). Four stars: As three stars plus the use of open standards from the World Wide Web Commission (W3C) (i.e. RDF and SPARQL) to identify things, so that people can point to your data and metadata. Five stars: All the above plus link your data to other people's data to provide context Here we present work building on the SeaDataNet common vocabularies served by the NERC Vocabulary Server, connecting projects such as the Rolling Deck to Repository (R2R) and the Biological and Chemical Oceanography Data Management Office (BCO-DMO) and other vocabularies such as the Marine Metadata Interoperability Ontology Register and Repository and the NASA Global Change Master Directory to create a Linked Ocean Data cloud. Publishing the vocabularies and metadata in standard RDF XML and exposing SPARQL endpoints renders them five-star Linked

  13. Transancestral mapping and genetic load in systemic lupus erythematosus

    NARCIS (Netherlands)

    Langefeld, Carl D.; Ainsworth, Hannah C.; Graham, Deborah S. Cunninghame; Kelly, Jennifer A.; Comeau, Mary E.; Marion, Miranda C.; Howard, Timothy D.; Ramos, Paula S.; Croker, Jennifer A.; Morris, David L.; Sandling, Johanna K.; Almlof, Jonas Carlsson; Acevedo-Vasquez, Eduardo M.; Alarcon, Graciela S.; Babini, Alejandra M.; Baca, Vicente; Bengtsson, Anders A.; Berbotto, Guillermo A.; Bijl, Marc; Brown, Elizabeth E.; Brunner, Hermine I.; Cardiel, Mario H.; Catoggio, Luis; Cervera, Ricard; Cucho-Venegas, Jorge M.; Dahlqvist, Solbritt Rantapaa; D'Alfonso, Sandra; Da Silva, Berta Martins; de la Rua Figueroa, Inigo; Doria, Andrea; Edberg, Jeffrey C.; Endreffy, Emoke; Esquivel-Valerio, Jorge A.; Fortin, Paul R.; Freedman, Barry I.; Frostegard, Johan; Garcia, Mercedes A.; Garcia de la Torre, Ignacio; Gilkeson, Gary S.; Gladman, Dafna D.; Gunnarsson, Iva; Guthridge, Joel M.; Huggins, Jennifer L.; James, Judith A.; Kallenberg, Cees G. M.; Kamen, Diane L.; Karp, David R.; Kaufman, Kenneth M.; Kottyan, Leah C.; Kovacs, Laszlo; Laustrup, Helle; Lauwerys, Bernard R.; Li, Quan-Zhen; Maradiaga-Cecena, Marco A.; Martin, Javier; McCune, Joseph M.; McWilliams, David R.; Merrill, Joan T.; Miranda, Pedro; Moctezuma, Jose F.; Nath, Swapan K.; Niewold, Timothy B.; Orozco, Lorena; Ortego-Centeno, Norberto; Petri, Michelle; Pineau, Christian A.; Pons-Estel, Bernardo A.; Pope, Janet; Raj, Prithvi; Ramsey-Goldman, Rosalind; Reveille, John D.; Russell, Laurie P.; Sabio, Jose M.; Aguilar-Salinas, Carlos A.; Scherbarth, Hugo R.; Scorza, Raffaella; Seldin, Michael F.; Sjowall, Christopher; Svenungsson, Elisabet; Thompson, Susan D.; Toloza, Sergio M. A.; Truedsson, Lennart; Tusie-Luna, Teresa; Vasconcelos, Carlos; Vila, Luis M.; Wallace, Daniel J.; Weisman, Michael H.; Wither, Joan E.; Bhangale, Tushar; Oksenberg, Jorge R.; Rioux, John D.; Gregersen, Peter K.; Syvanen, Ann-Christine; Ronnblom, Lars; Criswell, Lindsey A.; Jacob, Chaim O.; Sivils, Kathy L.; Tsao, Betty P.; Schanberg, Laura E.; Behrens, Timothy W.; Silverman, Earl D.; Alarcon-Riquelme, Marta E.; Kimberly, Robert P.; Harley, John B.; Wakeland, Edward K.; Graham, Robert R.; Gaffney, Patrick M.; Vyse, Timothy J.

    2017-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58

  14. Transancestral mapping and genetic load in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Langefeld, Carl D; Ainsworth, Hannah C; Graham, Deborah S Cunninghame

    2017-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify...

  15. Genetics of recessive cognitive disorders

    OpenAIRE

    Musante, Luciana; Ropers, H. Hilger

    2014-01-01

    Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elu...

  16. Ocean Tide Loading Computation

    Science.gov (United States)

    Agnew, Duncan Carr

    2005-01-01

    September 15,2003 through May 15,2005 This grant funds the maintenance, updating, and distribution of programs for computing ocean tide loading, to enable the corrections for such loading to be more widely applied in space- geodetic and gravity measurements. These programs, developed under funding from the CDP and DOSE programs, incorporate the most recent global tidal models developed from Topex/Poscidon data, and also local tide models for regions around North America; the design of the algorithm and software makes it straightforward to combine local and global models.

  17. DYNAMIC LOAD DAMPER MODELING

    Directory of Open Access Journals (Sweden)

    Loktev Aleksey Alekseevich

    2013-01-01

    Full Text Available The authors present their findings associated with their modeling of a dynamic load damper. According to the authors, the damper is to be installed onto a structure or its element that may be exposed to impact, vibration or any other dynamic loading. The damper is composed of paralleled or consecutively connected viscous and elastic elements. The authors study the influence of viscosity and elasticity parameters of the damper produced onto the regular displacement of points of the structure to be protected and onto the regular acceleration transmitted immediately from the damper to the elements positioned below it.

  18. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  19. Lateral loadings on snubber assemblies

    International Nuclear Information System (INIS)

    Raphael, L.S.

    1981-01-01

    This paper examines the installation of snubber assemblies in power plants with respect to transverse or lateral loads as well as axial loads. Evaluation of the effects of low level, lateral loads was performed by analytical means. At higher loadings, the snubber assembly could no longer be treated as a column; therefore, the effects of lateral loadings was determined by test. The test consisted of applying both lateral and axial loads simultaneously. Results of both the analysis and the test showed that the application of lateral loads had a considerable effect on the snubber assemblies

  20. Link til hjemmesider

    DEFF Research Database (Denmark)

    Bervild, Charlotte

    2015-01-01

    Link til læringsobjekter/undervisningsportalhttp://videoportal.ucc.dk/channel/10492641/charlotte-bervilds-undervisninghttp://videoportal.ucc.dk/video/8248508/3d-printer-v-lektor-charlotte-bervildFotoblog:http://charlottebervild.blogspot.dk/2008/10/fotocollager-af-charlotte-bervild.html......Link til læringsobjekter/undervisningsportalhttp://videoportal.ucc.dk/channel/10492641/charlotte-bervilds-undervisninghttp://videoportal.ucc.dk/video/8248508/3d-printer-v-lektor-charlotte-bervildFotoblog:http://charlottebervild.blogspot.dk/2008/10/fotocollager-af-charlotte-bervild.html...

  1. Fuel Load (FL)

    Science.gov (United States)

    Duncan C. Lutes; Robert E. Keane

    2006-01-01

    The Fuel Load method (FL) is used to sample dead and down woody debris, determine depth of the duff/ litter profile, estimate the proportion of litter in the profile, and estimate total vegetative cover and dead vegetative cover. Down woody debris (DWD) is sampled using the planar intercept technique based on the methodology developed by Brown (1974). Pieces of dead...

  2. HIV Viral Load

    Science.gov (United States)

    ... PF4 Antibody Hepatitis A Testing Hepatitis B Testing Hepatitis C Testing HER2/neu Herpes Testing High-sensitivity C-reactive Protein (hs-CRP) Histamine Histone Antibody HIV Antibody and HIV Antigen (p24) HIV Antiretroviral Drug Resistance Testing, Genotypic HIV Viral Load HLA Testing HLA- ...

  3. Loading device for incinerator

    International Nuclear Information System (INIS)

    Hempelmann, W.

    1983-01-01

    An incinerator for radioactive waste is described. Heat radiation from the incinerator into the loading device is reduced by the design of the slider with a ceramic plate and the conical widening of the pot, and also by fixing a metal plate between the pot and the floor. (PW) [de

  4. Side loading filter apparatus

    International Nuclear Information System (INIS)

    Reynolds, K.E.

    1981-01-01

    A side loading filter chamber for use with radioactive gases is described. The equipment incorporates an inexpensive, manually operated, mechanism for aligning filter units with a number of laterally spaced wall openings and for removing the units from the chamber. (U.K.)

  5. EQUATING FACULTY LOADS.

    Science.gov (United States)

    OOSTING, KENNETH W.

    AT ALPENA COMMUNITY COLLEGE, A NORMAL TEACHING LOAD FOR ANY FACULTY MEMBER IS 14-16 SEMESTER HOURS, WITH 75-125 STUDENTS AND 2-3 PREPARATIONS. VARIATIONS FROM THE SCHEDULE ARE IN ACCORDANCE WITH SPECIFIC FORMULAS RELATING TO TOTAL MEMBERS OF STUDENTS, NUMBERS OF PREPARATIONS, ASSIGNMENT TO ENGLISH COMPOSITION CLASSES, NEW COURSES, AND CLASSES…

  6. Probabilistic Load Flow

    DEFF Research Database (Denmark)

    Chen, Peiyuan; Chen, Zhe; Bak-Jensen, Birgitte

    2008-01-01

    This paper reviews the development of the probabilistic load flow (PLF) techniques. Applications of the PLF techniques in different areas of power system steady-state analysis are also discussed. The purpose of the review is to identify different available PLF techniques and their corresponding...

  7. Duration of load revisited

    DEFF Research Database (Denmark)

    Hoffmeyer, Preben; Sørensen, John Dalsgaard

    2007-01-01

    A duration of load study representing 13 years of testing was recently terminated. Preliminary results have been published over the years. This paper represents the final account of the study, which was focused on the influ-ence of moisture content on time to failure for structural timber subject...

  8. Robust surgery loading

    NARCIS (Netherlands)

    Hans, Elias W.; Wullink, Gerhard; van Houdenhoven, Mark; Kazemier, Geert

    2008-01-01

    We consider the robust surgery loading problem for a hospital’s operating theatre department, which concerns assigning surgeries and sufficient planned slack to operating room days. The objective is to maximize capacity utilization and minimize the risk of overtime, and thus cancelled patients. This

  9. Temoporfin-loaded liposomes

    DEFF Research Database (Denmark)

    Kuntsche, Judith; Freisleben, Ines; Steiniger, Frank

    2010-01-01

    . In contrast, if phospholipids with longer fatty acid chains (distearoylphosphatidylcholine/-glycerol) were used, phase transitions were well above body temperature even at high drug load. Size and thermal behavior were not distinctly influenced by the addition of pegylated lipids but cryo-electron microscopic...

  10. Distribution load forecast with interactive correction of horizon loads

    International Nuclear Information System (INIS)

    Glamochanin, V.; Andonov, D.; Gagovski, I.

    1994-01-01

    This paper presents the interactive distribution load forecast application that performs the distribution load forecast with interactive correction of horizon loads. It consists of two major parts implemented in Fortran and Visual Basic. The Fortran part is used for the forecasts computations. It consists of two methods: Load Transfer Coupling Curve Fitting (LTCCF) and load Forecast Using Curve Shape Clustering (FUCSC). LTCCF is used to 'correct' the contaminated data because of load transfer among neighboring distribution areas. FUCSC uses curve shape clustering to forecast the distribution loads of small areas. The forecast for each small area is achieved by using the shape of corresponding cluster curve. The comparison of forecasted loads of the area with historical data will be used as a tool for the correction of the estimated horizon load. The Visual Basic part is used to provide flexible interactive user-friendly environment. (author). 5 refs., 3 figs

  11. Load research manual. Volume 1. Load research procedures

    Energy Technology Data Exchange (ETDEWEB)

    Brandenburg, L.; Clarkson, G.; Grund, Jr., C.; Leo, J.; Asbury, J.; Brandon-Brown, F.; Derderian, H.; Mueller, R.; Swaroop, R.

    1980-11-01

    This three-volume manual presents technical guidelines for electric utility load research. Special attention is given to issues raised by the load data reporting requirements of the Public Utility Regulatory Policies Act of 1978 and to problems faced by smaller utilities that are initiating load research programs. In Volumes 1 and 2, procedures are suggested for determining data requirements for load research, establishing the size and customer composition of a load survey sample, selecting and using equipment to record customer electricity usage, processing data tapes from the recording equipment, and analyzing the data. Statistical techniques used in customer sampling are discussed in detail. The costs of load research also are estimated, and ongoing load research programs at three utilities are described. The manual includes guides to load research literature and glossaries of load research and statistical terms.

  12. The Genetics of PPARG and the Skeleton

    Directory of Open Access Journals (Sweden)

    Cheryl Ackert-Bicknell

    2006-01-01

    (PPARG impact bone formation, but genetic studies connecting PPARG polymorphisms to skeletal phenotypes in humans have proven to be less than satisfactory. One missense polymorphism in exon one has been linked to low bone mineral density (BMD, but the most studied polymorphism, Pro12Ala, has not yet been examined in the context of skeletal phenotype. The studies to date are a promising start in leading to our understanding of the genetic contribution of PPARG to the phenotypes of BMD and fracture risk.

  13. A genetic assessment of the English bulldog

    OpenAIRE

    Pedersen, Niels C.; Pooch, Ashley S.; Liu, Hongwei

    2016-01-01

    Background This study examines genetic diversity among 102 registered English Bulldogs used for breeding based on maternal and paternal haplotypes, allele frequencies in 33 highly polymorphic short tandem repeat (STR) loci on 25 chromosomes, STR-linked dog leukocyte antigen (DLA) class I and II haplotypes, and the number and size of genome-wide runs of homozygosity (ROH) determined from high density SNP arrays. The objective was to assess whether the breed retains enough genetic diversity to ...

  14. Helically linked mirror arrangement

    International Nuclear Information System (INIS)

    Ranjan, P.

    1986-08-01

    A scheme is described for helical linking of mirror sections, which endeavors to combine the better features of toroidal and mirror devices by eliminating the longitudinal loss of mirror machines, having moderately high average β and steady state operation. This scheme is aimed at a device, with closed magnetic surfaces having rotational transform for equilibrium, one or more axisymmetric straight sections for reduced radial loss, a simple geometrical axis for the links and an overall positive magnetic well depth for stability. We start by describing several other attempts at linking of mirror sections, made both in the past and the present. Then a description of our helically linked mirror scheme is given. This example has three identical straight sections connected by three sections having helical geometric axes. A theoretical analysis of the magnetic field and single-particle orbits in them leads to the conclusion that most of the passing particles would be confined in the device and they would have orbits independent of pitch angle under certain conditions. Numerical results are presented, which agree well with the theoretical results as far as passing particle orbits are concerned

  15. Load theory behind the wheel; perceptual and cognitive load effects.

    Science.gov (United States)

    Murphy, Gillian; Greene, Ciara M

    2017-09-01

    Perceptual Load Theory has been proposed as a resolution to the longstanding early versus late selection debate in cognitive psychology. There is much evidence in support of Load Theory but very few applied studies, despite the potential for the model to shed light on everyday attention and distraction. Using a driving simulator, the effect of perceptual and cognitive load on drivers' visual search was assessed. The findings were largely in line with Load Theory, with reduced distractor processing under high perceptual load, but increased distractor processing under high cognitive load. The effect of load on driving behaviour was also analysed, with significant differences in driving behaviour under perceptual and cognitive load. In addition, the effect of perceptual load on drivers' levels of awareness was investigated. High perceptual load significantly increased inattentional blindness and deafness, for stimuli that were both relevant and irrelevant to driving. High perceptual load also increased RTs to hazards. The current study helps to advance Load Theory by illustrating its usefulness outside of traditional paradigms. There are also applied implications for driver safety and roadway design, as the current study suggests that perceptual and cognitive load are important factors in driver attention. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  16. Load handling gripper

    International Nuclear Information System (INIS)

    Holloway, C.

    1982-01-01

    An apparatus for releasably engaging and moving workpieces comprises pivotable gripper jaws with a spring-loaded plunger to maintain the jaws in a closed condition. The plunger is slidable in a bore in a housing and the end of the plunger remote from the jaws cooperates with a blind end of the bore to provide a gas cushion. A rod in conjunction with a backplate (not shown) are provided to cause the jaws to open and release a workpiece on axial movement of the housing in a first direction through a predetermined distance and releasable locking means maintain the jaws in an open condition. On axial movement of the housing in the reverse direction the locking means are released to allow the spring-loaded plunger to return to a position to close to jaws. (author)

  17. Heavy-Load Lifting

    DEFF Research Database (Denmark)

    Bloomquist, Kira; Oturai, Peter; Steele, Megan L

    2018-01-01

    of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal....... repetition maximum (RM), two sets of 15-20 repetitions) and heavy-load (85-90% 1RM, three sets of 5-8 repetition) upper-extremity resistance exercise separated by a one-week wash-out period. Swelling was determined by bioimpedance spectroscopy and dual energy x-ray absorptiometry, with breast cancer......-related lymphedema symptoms (heaviness, swelling, pain, tightness) reported using a numeric rating scale (0-10). Order of low- versus heavy-load was randomized. All outcomes were assessed pre-, immediately post-, and 24- and 72-hours post-exercise. Generalized estimating equations were used to evaluate changes over...

  18. EDF studies on PWR vessel internal loading

    International Nuclear Information System (INIS)

    Bellet, S.; Vallat, S.

    1998-01-01

    EDF has undertaken some mechanics and thermal-hydraulics studies with the objective of mastering plant phenomena today and in order to numerically predict the behaviour of vessel internals on units planned for the future. From some justifications already underway after in operation incidents (wear and drop time of RCCA rods, fuel deflection, adapter cracks, baffle bolt cracks) we intend to control reactor vessel flows and mechanical behaviour of internal structures. During normal operation, thermal-hydraulic is the main load of vessel internals. The current approach consists of acquiring the capacity to link different calculations, taking care that codes are qualified for physical phenomena and complex 3D geometries. For baffle assembly, a more simple model of this structure has been used to treat the physical phenomena linked to the LOCA transient. Results are encouraging mainly due to code capacity progression (resolution and models), which allows more and more complex physical phenomena to be treated, like turbulence flow and LOCA. (author)

  19. Genetic maps and physical units

    International Nuclear Information System (INIS)

    Karunakaran, V.; Holt, G.

    1976-01-01

    The relationships between physical and genetic units are examined. Genetic mapping involves the detection of linkage of genes and the measurement of recombination frequencies. The genetic distance is measured in map units and is proportional to the recombination frequencies between linked markers. Physical mapping of genophores, particularly the simple genomes of bacteriophages and bacterial plasmids can be achieved through heteroduplex analysis. Genetic distances are dependent on recombination frequencies and, therefore, can only be correlated accurately with physical unit lengths if the recombination frequency is constant throughout the entire genome. Methods are available to calculate the equivalent length of DNA per average map unit in different organisms. Such estimates indicate significant differences from one organism to another. Gene lengths can also be calculated from the number of amino acids in a specified polypeptide and relating this to the number of nucleotides required to code for such a polypeptide. Many attempts have been made to relate microdosimetric measurements to radiobiological data. For irradiation effects involving deletion of genetic material such a detailed correlation may be possible in systems where heteroduplex analysis or amino acid sequencing can be performed. The problems of DNA packaging and other functional associations within the cell in interpreting data is discussed

  20. Fuel element loading system

    International Nuclear Information System (INIS)

    Arya, S.P; s.

    1978-01-01

    A nuclear fuel element loading system is described which conveys a plurality of fuel rods to longitudinal passages in fuel elements. Conveyor means successively position the fuel rods above the longitudinal passages in axial alignment therewith and adapter means guide the fuel rods from the conveyor means into the longitudinal passages. The fuel elements are vibrated to cause the fuel rods to fall into the longitudinal passages through the adapter means