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  1. Combinations of Genetic Variants Occurring Exclusively in Patients

    Directory of Open Access Journals (Sweden)

    Erling Mellerup

    Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

  2. Reproductive cloning combined with genetic modification.

    Science.gov (United States)

    Strong, C

    2005-11-01

    Although there is widespread opposition to reproductive cloning, some have argued that its use by infertile couples to have genetically related children would be ethically justifiable. Others have suggested that lesbian or gay couples might wish to use cloning to have genetically related children. Most of the main objections to human reproductive cloning are based on the child's lack of unique nuclear DNA. In the future, it may be possible safely to create children using cloning combined with genetic modifications, so that they have unique nuclear DNA. The genetic modifications could be aimed at giving such children genetic characteristics of both members of the couple concerned. Thus, cloning combined with genetic modification could be appealing to infertile, lesbian, or gay couples who seek genetically related children who have genetic characteristics of both members. In such scenarios, the various objections to human reproductive cloning that are based on the lack of genetic uniqueness would no longer be applicable. The author argues that it would be ethically justifiable for such couples to create children in this manner, assuming these techniques could be used safely.

  3. Lessons Learnt on Rain Forest Management for Wood Production in ...

    African Journals Online (AJOL)

    The study was carried out with the aim of analyzing and establishing what lessons have been learnt from positive and negative experiences of various initiatives, projects and programmes aiming at sustainable management, use and conservation of rain forests in Sub-Saharan Africa. The lessons learnt from the case ...

  4. Genetic compatibility determines endophyte-grass combinations.

    Directory of Open Access Journals (Sweden)

    Kari Saikkonen

    Full Text Available Even highly mutually beneficial microbial-plant interactions, such as mycorrhizal- and rhizobial-plant exchanges, involve selfishness, cheating and power-struggles between the partners, which depending on prevailing selective pressures, lead to a continuum of interactions from antagonistic to mutualistic. Using manipulated grass-endophyte combinations in a five year common garden experiment, we show that grass genotypes and genetic mismatches constrain genetic combinations between the vertically (via host seeds transmitted endophytes and the out-crossing host, thereby reducing infections in established grass populations. Infections were lost in both grass tillers and seedlings in F(1 and F(2 generations, respectively. Experimental plants were collected as seeds from two different environments, i.e., meadows and nearby riverbanks. Endophyte-related benefits to the host included an increased number of inflorescences, but only in meadow plants and not until the last growing season of the experiment. Our results illustrate the importance of genetic host specificity and trans-generational maternal effects on the genetic structure of a host population, which act as destabilizing forces in endophyte-grass symbioses. We propose that (1 genetic mismatches may act as a buffering mechanism against highly competitive endophyte-grass genotype combinations threatening the biodiversity of grassland communities and (2 these mismatches should be acknowledged, particularly in breeding programmes aimed at harnessing systemic and heritable endophytes to improve the agriculturally valuable characteristics of cultivars.

  5. Combinations of genetic data in a study of oral cancer

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke; Mondal, Pinaki

    2015-01-01

    In the single locus strategy a number of genetic variants are analyzed, in order to find variants that are distributed significantly different between controls and patients. A supplementary strategy is to analyze combinations of genetic variants. A combination that is the genetic basis...... for a polygenic disorder will not occur in in control persons genetically unrelated to patients, so the strategy is to analyze combinations of genetic variants present exclusively in patients. In a previous study of oral cancer and leukoplakia 325 SNPs were analyzed. This study has been supplemented...

  6. 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 ...

  7. Physiological regulation through learnt control of appetites by contingencies among signals from external and internal environments.

    Science.gov (United States)

    Booth, David A

    2008-11-01

    As reviewed by [Cooper, S. J. (2008). From Claude Bernard to Walter Cannon: emergence of the concept of homeostasis. Appetite 51, 419-27.] Claude Bernard's idea of stabilisation of bodily states, as realised in Walter B. Cannon's conception of homeostasis, took mathematical form during the 1940s in the principle that externally originating disturbance of a physiological parameter can feed an informative signal around the brain to trigger counteractive processes--a corrective mechanism known as negative feedback, in practice reliant on feedforward. Three decades later, enough was known of the physiology and psychology of eating and drinking for calculations to show how experimentally demonstrated mechanisms of feedforward that had been learnt from negative feedback combine to regulate exchanges of water and energy between the body and the surroundings. Subsequent systemic physiology, molecular neuroscience and experimental psychology, however, have been traduced by a misconception that learnt controls of intake are 'non-homeostatic', the myth of biological 'set points' and an historic failure to address evidence for the ingestion-adapting information-processing mechanisms on which an operationally integrative theory of eating and drinking relies.

  8. Combinations of Genetic Variants Occurring Exclusively in Patients

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five ...

  9. Lessons learnt from the capacity building activities for Asian countries

    International Nuclear Information System (INIS)

    Nakagawa, Masaki

    2010-01-01

    Japan Nuclear Energy Safety Organization (JNES) has being providing much of cooperative activities for establishing the nuclear regulatory infrastructure to the several Asian countries like China, Indonesia, Thailand and particularly Vietnam which either started extended construction of nuclear power stations or are launching on new nuclear power programs. Our cooperation to these countries covers several different types like long-term training course, issue-specific training course and periodic safety seminar etc. Through these activities what we have learnt is that to help other countries is not an easy business. To fully recognize what are actually requested by the recipients' countries is not at all an easy business either. This paper will illustrate our experiences to have worked on the cooperative activities putting the emphasis on the lessons learnt through these experiences. (author)

  10. Response selection difficulty modulates the behavioral impact of rapidly learnt action effects.

    Directory of Open Access Journals (Sweden)

    Uta eWolfensteller

    2014-12-01

    Full Text Available It is well established that we can pick up action effect associations when acting in a free-choice intentional mode. However, it is less clear whether and when action effect associations are learnt and actually affect behavior if we are acting in a forced-choice mode, applying a specific stimulus-response (S-R rule. In the present study, we investigated whether response selection difficulty imposed by S-R rules influences the initial rapid learning and the behavioral expression of previously learnt but weakly practiced action effect associations when those are re-activated by effect exposure. Experiment 1 showed that the rapid acquisition of action effect associations is not directly influenced by response selection difficulty. By contrast, the behavioral expression of re-activated action effect associations is prevented when actions are directly activated by highly over-learnt response cues and thus response selection difficulty is low. However, all three experiments showed that if response selection difficulty is sufficiently high during re-activation, the same action effect associations do influence behavior. Experiment 2 and 3 revealed that the effect of response selection difficulty cannot be fully reduced to giving action effects more time to prime an action, but seems to reflect competition during response selection. Finally, the present data suggest that when multiple novel rules are rapidly learnt in succession, which requires a lot of flexibility, action effect associations continue to influence behavior only if response selection difficulty is sufficiently high. Thus, response selection difficulty might modulate the impact of experiencing multiple learning episodes on action effect expression and learning, possibly via inducing different strategies.

  11. 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 ...

  12. Lessons Learnt from Past Incidents and Accidents in Radiation Oncology.

    Science.gov (United States)

    Knöös, T

    2017-09-01

    The purpose of this report is to review and compile what have been and can be learnt from incidents and accidents in radiation oncology, especially in external beam and brachytherapy. Some major accidents from the last 20 years will be discussed. The relationship between major events and minor or so-called near misses is mentioned, leading to the next topic of exploring the knowledge hidden among them. The main lessons learnt from the discussion here and elsewhere are that a well-functioning and safe radiotherapy department should help staff to work with awareness and alertness and that documentation and procedures should be in place and known by everyone. It also requires that trained and educated staff with the required competences are in place and, finally, functions and responsibilities are defined and well known. Copyright © 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  13. Towards realistic modelling of spectral line formation - lessons learnt from red giants

    Science.gov (United States)

    Lind, Karin

    2015-08-01

    Many decades of quantitative spectroscopic studies of red giants have revealed much about the formation histories and interlinks between the main components of the Galaxy and its satellites. Telescopes and instrumentation are now able to deliver high-resolution data of superb quality for large stellar samples and Galactic archaeology has entered a new era. At the same time, we have learnt how simplifying physical assumptions in the modelling of spectroscopic data can bias the interpretations, in particular one-dimensional homogeneity and local thermodynamic equilibrium (LTE). I will present lessons learnt so far from non-LTE spectral line formation in 3D radiation-hydrodynamic atmospheres of red giants, the smaller siblings of red supergiants.

  14. Combinations of genetic variants associated with bipolar disorder

    DEFF Research Database (Denmark)

    Mellerup, Erling; Andreassen, Ole A; Bennike, Bente

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five...... clusters of combinations were found to be significantly associated with bipolar disorder. In the present study, combinations of ten SNP genotypes taken from the same 803 SNPs were analyzed, and one cluster of combinations was found to be significantly associated with bipolar disorder. Combinations from......, heterozygote or variant homozygote. In the combinations containing 10 SNP genotypes almost all the genotypes were the normal homozygote. Such a finding may indicate that accumulation in the genome of combinations containing few SNP genotypes may be a risk factor for bipolar disorder when those combinations...

  15. Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons

    DEFF Research Database (Denmark)

    Mellerup, E; Andreassen, OA; Bennike, B.

    2015-01-01

    The main objective of the study was to find combinations of genetic variants significantly associated with bipolar disorder. In a previous study of bipolar disorder, combinations of three single nucleotide polymorphism (SNP) genotypes taken from 803 SNPs were analyzed, and four clusters of combin......The main objective of the study was to find combinations of genetic variants significantly associated with bipolar disorder. In a previous study of bipolar disorder, combinations of three single nucleotide polymorphism (SNP) genotypes taken from 803 SNPs were analyzed, and four clusters...

  16. SMART-1: Development and lessons learnt

    Science.gov (United States)

    Rathsman, Peter; Kugelberg, Joakim; Bodin, Per; Racca, Giuseppe D.; Foing, Bernard; Stagnaro, Luca

    2005-07-01

    SMART-1 is the first of the small missions for advanced research and technology as part of ESA's science programme “Cosmic vision”. It was successfully launched on September 27, 2003 and is presently traveling towards its destination, the Moon. The main objective of the mission, to demonstrate solar electric primary propulsion for future Cornerstones (such as Bepi-Colombo), has already been achieved. At the time of writing the electric propulsion system has been working already for more than 3400 h and has provided a Delta-V to the spacecraft of more than 2500 m/s. The other technology objectives are also being fulfilled by the verification of the proper functioning of such on-board experiments like the X-Ka band transponder, the X-ray spectrometer, the near IR spectrometer, the laser link, etc. The scientific objectives are related to lunar science and will be fulfilled once the spacecraft enters its operational lunar orbit, currently expected for January 2005. SMART-1 lunar science investigations will include studies of the chemical composition of the Moon, of geophysical processes, environment and high-resolution studies in preparation for future steps of lunar exploration. SMART-1 has been an innovative mission in many aspects and we are now drawing some preliminary conclusions about the lessons to be learnt. The paper describes the spacecraft and the technology elements with particular emphasis to the technology nature of the mission. The on-board avionics employs many novel designs for spacecraft, including a serial CAN bus for data communication, autonomous star trackers and extensive use of auto-code generation for implementing the attitude control system and the failure, detection, isolation and recovery (FDIR). Finally, the orbital operation phase currently ongoing, including the routine electric propulsion operations and the instrument commissioning, is providing a wealth of data and lesson-learnt useful for future autonomous planetary missions.

  17. Combinations of genetic data in a study of neuroblastoma risk genotypes

    DEFF Research Database (Denmark)

    Capasso, Mario; Calabrese, Francesco Maria; Iolascon, Achille

    2014-01-01

    Analysis of combinations of genetic changes that occur exclusively in patients may be a supplementary strategy to the single-locus strategy used in many genetic studies. The genotypes of 16 SNPs within susceptibility loci for neuroblastoma (NB) were analyzed in a previous study. In the present...

  18. Lessons learnt from the organ retention controversy

    International Nuclear Information System (INIS)

    Madden, D.

    2009-01-01

    This paper examines the lessons to be learnt from the organ retention controversy in the Republic of Ireland. The paper emphasises the importance of good communication between clinicians and families of deceased persons and a move away from a medical culture based on paternalism to a partnership approach between clinicians and patients based on mutual trust and understanding. A model of authorisation rather than consent is proposed as the way forward for dealing with the difficult and traumatic experience of asking families for permission to carry out a post mortem examination on their deceased child. (authors)

  19. Lessons learnt from implementation of the International Health Regulations: a systematic review

    Science.gov (United States)

    Allen, Lisa G; Cifuentes, Sara; Dye, Christopher; Nagata, Jason M

    2018-01-01

    Abstract Objective To respond to the World Health Assembly call for dissemination of lessons learnt from countries that have begun implementing the International Health Regulations, 2005 revision; IHR (2005). Methods In November 2015, we conducted a systematic search of the following online databases and sources: PubMed®, Embase®, Global Health, Scopus, World Health Organization (WHO) Global Index Medicus, WHO Bulletin on IHR Implementation and the International Society for Disease Surveillance. We included identified studies and reports summarizing national experience in implementing any of the IHR (2005) core capacities or their components. We excluded studies that were theoretical or referred to IHR (1969). Qualitative systematic review methodology, including meta-ethnography, was used for qualitative synthesis. Findings We analysed 51 articles from 77 countries representing all WHO Regions. The meta-syntheses identified a total of 44 lessons learnt across the eight core capacities of IHR (2005). Major themes included the need to mobilize and sustain political commitment; to adapt global requirements based on local sociocultural, epidemiological, health system and economic contexts; and to conduct baseline and follow-up assessments to monitor the status of IHR (2005) implementation. Conclusion Although experiences of IHR (2005) implementation covered a wide global range, more documentation from Africa and Eastern Europe is needed. We did not find specific areas of weakness in monitoring IHR (2005); sustained monitoring of all core capacities is required to ensure effective systems. These lessons learnt could be adapted by countries in the process of meeting IHR (2005) requirements. PMID:29403114

  20. Lessons learnt from WLCG service deployment

    International Nuclear Information System (INIS)

    Shiers, J D

    2008-01-01

    This paper summarises the main lessons learnt from deploying WLCG production services, with a focus on Reliability, Scalability, Accountability, which lead to both manageability and usability. Each topic is analysed in turn. Techniques for zero-user-visible downtime for the main service interventions are described, together with pathological cases that need special treatment. The requirements in terms of scalability are analysed, calling for as much robustness and automation in the service as possible. The different aspects of accountability - which covers measuring/tracking/logging/monitoring what is going on - and has gone on - is examined, with the goal of attaining a manageable service. Finally, a simple analogy is drawn with the Web in terms of usability - what do we need to achieve to cross the chasm from small-scale adoption to ubiquity?

  1. Scientific collaborations on Living Labs: some lessons learnt from South Africa and Tanzania

    CSIR Research Space (South Africa)

    Herselman, M

    2015-11-01

    Full Text Available The purpose of this paper is to provide an overview of the specific lessons that were learnt when Tanzanian and South African Living Labs (LL) collaborated to support one another. It was a scientific collaboration which focussed on Living Labs...

  2. Five Years after the Fukushima Daiichi Accident: Nuclear Safety Improvements and Lessons Learnt

    International Nuclear Information System (INIS)

    Magwood, William D. IV; Niel, Jean-Christophe; Fuketa, Toyoshi; Sheron, Brian; Boyd, Michael; McGarry, Ann; Dussart-Desart, Roland; Reig, Javier; Hah, Yeonhee; Nieh, Ho; Vasquez-Maignan, Ximena; Salgado, Nancy; White, Andrew; Lazo, Edward; Creswell, Len; Leeds, Eric; Gannon-Picot, Cynthia; Griffiths, Janice

    2016-01-01

    Countries around the world continue to implement safety improvements and corrective actions based on lessons learnt from the 11 March 2011 accident at the Fukushima Daiichi nuclear power plant. This report provides a high-level summary and update on these activities, and outlines further lessons learnt and challenges identified for future consideration. It focuses on actions taken by NEA committees and NEA member countries, and as such is complementary to reports produced by other international organisations. It is in a spirit of openness and transparency that NEA member countries share this information to illustrate that appropriate actions are being taken to maintain and enhance the level of safety at their nuclear facilities. Nuclear power plants are safer today because of these actions. High-priority follow-on items identified by NEA committees are provided to assist countries in continuously benchmarking and improving their nuclear safety practices. (authors)

  3. Concrete Plant Operations Optimization Using Combined Simulation and Genetic Algorithms

    NARCIS (Netherlands)

    Cao, Ming; Lu, Ming; Zhang, Jian-Ping

    2004-01-01

    This work presents a new approach for concrete plant operations optimization by combining a ready mixed concrete (RMC) production simulation tool (called HKCONSIM) with a genetic algorithm (GA) based optimization procedure. A revamped HKCONSIM computer system can be used to automate the simulation

  4. Methods used and lessons learnt in conducting document reviews of medical and allied health curricula - a key step in curriculum evaluation.

    Science.gov (United States)

    Rohwer, Anke; Schoonees, Anel; Young, Taryn

    2014-11-02

    This paper describes the process, our experience and the lessons learnt in doing document reviews of health science curricula. Since we could not find relevant literature to guide us on how to approach these reviews, we feel that sharing our experience would benefit researchers embarking on similar projects. We followed a rigorous, transparent, pre-specified approach that included the preparation of a protocol, a pre-piloted data extraction form and coding schedule. Data were extracted, analysed and synthesised. Quality checks were included at all stages of the process. The main lessons we learnt related to time and project management, continuous quality assurance, selecting the software that meets the needs of the project, involving experts as needed and disseminating the findings to relevant stakeholders. A complete curriculum evaluation comprises, apart from a document review, interviews with students and lecturers to assess the learnt and taught curricula respectively. Rigorous methods must be used to ensure an objective assessment.

  5. Multi-agency data linkage- How to and lessons learnt through the Western Australian Developmental Pathways Program

    Directory of Open Access Journals (Sweden)

    Rebecca Glauert

    2017-04-01

    This Program is the largest data linkage program in Australia, and is continually expanding with new agencies coming on board every year. Here we will provide a useful overview of the Program, along with key lessons learnt.

  6. Developing an evaluation framework for clinical redesign programs: lessons learnt.

    Science.gov (United States)

    Samaranayake, Premaratne; Dadich, Ann; Fitzgerald, Anneke; Zeitz, Kathryn

    2016-09-19

    Purpose The purpose of this paper is to present lessons learnt through the development of an evaluation framework for a clinical redesign programme - the aim of which was to improve the patient journey through improved discharge practices within an Australian public hospital. Design/methodology/approach The development of the evaluation framework involved three stages - namely, the analysis of secondary data relating to the discharge planning pathway; the analysis of primary data including field-notes and interview transcripts on hospital processes; and the triangulation of these data sets to devise the framework. The evaluation framework ensured that resource use, process management, patient satisfaction, and staff well-being and productivity were each connected with measures, targets, and the aim of clinical redesign programme. Findings The application of business process management and a balanced scorecard enabled a different way of framing the evaluation, ensuring measurable outcomes were connected to inputs and outputs. Lessons learnt include: first, the importance of mixed-methods research to devise the framework and evaluate the redesigned processes; second, the need for appropriate tools and resources to adequately capture change across the different domains of the redesign programme; and third, the value of developing and applying an evaluative framework progressively. Research limitations/implications The evaluation framework is limited by its retrospective application to a clinical process redesign programme. Originality/value This research supports benchmarking with national and international practices in relation to best practice healthcare redesign processes. Additionally, it provides a theoretical contribution on evaluating health services improvement and redesign initiatives.

  7. Genetic determination of high productivity in experimental hybrid combinations of sugar beet (Beta vulgaris L.

    Directory of Open Access Journals (Sweden)

    М. О. Корнєєва

    2016-05-01

    Full Text Available Purpose. Creation of experimental sugar beet hybrid combinations of high sugar yield values and defining gene­tic determination of their heterotic effect. Methods. Diallel crossing and topcrossing, genetic analysis of quantitative traits. Results. The authors have studied the frequency of occurrence of sugar beet heterotic hybrid combinations for «sugar yield» trait created on the basis of two pollinator lines to be genetically valuable for productivity elements, CMS lines and single-cross sterile hybrids with the use of diallel and topcrossing system of controlled hybridization. The share of parental components’ effect and their interaction in CMS hybrids variability for productivity was determined. Expediency of heterotic forecasting based on high combining ability lines was substabtiated. Promising high-yielding sugar beet combinations were selected that exceeded the group standard by 4.1–16.3%. Conclusions. The theory of genetic balance by M. V. Turbin was confirmed. Such hybrids as [CMS 5OT 4]MGP 1 (116.3%, [CMS 1OT 2]MGP 1 (112.5% and [CMS 3OT 5]MGP 1 (113.2% were recognized as the best for their productivity, MGP 1 and MGP 2 lines – as the best for their combining ability.

  8. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes.

    Science.gov (United States)

    George, Steven Z; Parr, Jeffrey J; Wallace, Margaret R; Wu, Samuel S; Borsa, Paul A; Dai, Yunfeng; Fillingim, Roger B

    2014-01-01

    Chronic pain is influenced by biological, psychological, social, and cultural factors. The current study investigated potential roles for combinations of genetic and psychological factors in the development and/or maintenance of chronic musculoskeletal pain. An exercise-induced shoulder injury model was used, and a priori selected genetic (ADRB2, COMT, OPRM1, AVPR1 A, GCH1, and KCNS1) and psychological (anxiety, depressive symptoms, pain catastrophizing, fear of pain, and kinesiophobia) factors were included as predictors. Pain phenotypes were shoulder pain intensity (5-day average and peak reported on numerical rating scale), upper extremity disability (5-day average and peak reported on the QuickDASH), and shoulder pain duration (in days). After controlling for age, sex, and race, the genetic and psychological predictors were entered as main effects and interaction terms in separate regression models for the different pain phenotypes. Results from the recruited cohort (N = 190) indicated strong statistical evidence for interactions between the COMT diplotype and 1) pain catastrophizing for 5-day average upper extremity disability and 2) depressive symptoms for pain duration. There was moderate statistical evidence for interactions for other shoulder pain phenotypes between additional genes (ADRB2, AVPR1 A, and KCNS1) and depressive symptoms, pain catastrophizing, or kinesiophobia. These findings confirm the importance of the combined predictive ability of COMT with psychological distress and reveal other novel combinations of genetic and psychological factors that may merit additional investigation in other pain cohorts. Interactions between genetic and psychological factors were investigated as predictors of different exercise-induced shoulder pain phenotypes. The strongest statistical evidence was for interactions between the COMT diplotype and pain catastrophizing (for upper extremity disability) or depressive symptoms (for pain duration). Other novel

  9. The lesson learnt during interact - I and INTERACT - II actris measurement campaigns

    Directory of Open Access Journals (Sweden)

    Rosoldi Marco

    2018-01-01

    Full Text Available The INTERACT-II (INTERcomparison of Aerosol and Cloud Tracking campaign, performed at the CNR-IMAA Atmospheric Observatory (760 m a.s.l., 40.60° N, 15.72° E, aims to evaluate the performances of commercial automatic lidars and ceilometers for atmospheric aerosol profiling, through the comparison with Potenza EARLINET (European Aerosol Research Lidar NETwork lidars. The results of the campaign and the overall lesson learnt within INTERACT-I and INTERACT-II ACTRIS campaigns will be presented.

  10. Lessons learnt from stakeholder engagement in the UK Environment Agency

    International Nuclear Information System (INIS)

    Chandler, Steve

    2004-01-01

    The Environment Agency has many reasons and occasions for engaging with stakeholders and does so very frequently. Many of these are relatively formal, often statutory, consultations which are part of the determination of regulatory permits. Other consultations are part of the Agency's role as developer, for example in the construction of flood defence schemes. The Agency also consults nationally on its significant policies, such as the stocking of salmon fisheries. This paper gives some examples of lessons learnt from the Agency's own stakeholder engagements and also from our participation in those led by other organizations. In the next section it also describes the Agency's current approach to stakeholder consultation and engagement. (author)

  11. Overview of lessons learnt

    International Nuclear Information System (INIS)

    Pescatore, C.; Federline, M.; Duncan, A.

    2004-01-01

    During the Tarragona International Seminar the participating high-level specialists had very open and fruitful discussion concerning strategic decommissioning issues. The lessons learnt and possible solutions for future work issues can be found below. Although there appears to be a trend towards early dismantling, there seemed to be general agreement that technical solutions support a wide variety of safe decommissioning approaches. Thus, in terms of decommissioning strategy, it appears that no one size fits all. A flexible regulatory approach is needed in order to recognize the changing operational risks and physical conditions of facilities with time, and to optimise their dismantling. The NEA has released a comprehensive study on decommissioning strategies and costs that indicates world-wide progress. According to this report, over 50% of countries with nuclear facilities have a framework of decommissioning requirements and 60% have defined radioactive waste clearance levels. Up to about 70% of the costs of D and D are attributable to dismantling and waste management. The provisions for safety of the D and D process are closely linked to the availability of the necessary funds as and when required. A number of common factors were defined for successful implementation of decommissioning strategies: i.e. safety, technical feasibility of decommissioning options, risk-informed progression of D and D activities as project proceeds, maintenance of competency and corporate memory throughout project, waste management and disposal capability, financing that suits the scope of the project, a well-defined risk-informed and performance-based regulatory process, and establishment of effective communication with local and regional governments and key stakeholders, particularly personnel, at the earliest opportunity before decommissioning. (author)

  12. Validation of the surge model and lessons learnt from commissioning of the Shuweihat water transmission scheme, UAE

    NARCIS (Netherlands)

    Leruth, P.; Pothof, I.W.M.; Naja, F.

    2012-01-01

    This paper presents a validation of the surge modeling results as well as lessons learnt from the commissioning test of the Shuweihat Water Transmission Scheme in the UAE. The Scheme is divided in two systems, The first system (Lot A) transmits water from Shuweihat to Mirfa (100 km). The second (Lot

  13. Automatic Combination of Operators in a Genetic Algorithm to Solve the Traveling Salesman Problem.

    Directory of Open Access Journals (Sweden)

    Carlos Contreras-Bolton

    Full Text Available Genetic algorithms are powerful search methods inspired by Darwinian evolution. To date, they have been applied to the solution of many optimization problems because of the easy use of their properties and their robustness in finding good solutions to difficult problems. The good operation of genetic algorithms is due in part to its two main variation operators, namely, crossover and mutation operators. Typically, in the literature, we find the use of a single crossover and mutation operator. However, there are studies that have shown that using multi-operators produces synergy and that the operators are mutually complementary. Using multi-operators is not a simple task because which operators to use and how to combine them must be determined, which in itself is an optimization problem. In this paper, it is proposed that the task of exploring the different combinations of the crossover and mutation operators can be carried out by evolutionary computing. The crossover and mutation operators used are those typically used for solving the traveling salesman problem. The process of searching for good combinations was effective, yielding appropriate and synergic combinations of the crossover and mutation operators. The numerical results show that the use of the combination of operators obtained by evolutionary computing is better than the use of a single operator and the use of multi-operators combined in the standard way. The results were also better than those of the last operators reported in the literature.

  14. Lessons learnt from past Flash Floods and Debris Flow events to propose future strategies on risk management

    Science.gov (United States)

    Cabello, Angels; Velasco, Marc; Escaler, Isabel

    2010-05-01

    Floods, including flash floods and debris flow events, are one of the most important hazards in Europe regarding both economic and life loss. Moreover, changes in precipitation patterns and intensity are very likely to increase due to the observed and predicted global warming, rising the risk in areas that are already vulnerable to floods. Therefore, it is very important to carry out new strategies to improve flood protection, but it is also crucial to take into account historical data to identify high risk areas. The main objective of this paper is to show a comparative analysis of the flood risk management information compiled in four test-bed basins (Llobregat, Guadalhorce, Gardon d'Anduze and Linth basins) from three different European countries (Spain, France and Switzerland) and to identify which are the lessons learnt from their past experiences in order to propose future strategies on risk management. This work is part of the EU 7th FP project IMPRINTS which aims at reducing loss of life and economic damage through the improvement of the preparedness and the operational risk management of flash flood and debris flow (FF & DF) events. The methodology followed includes the following steps: o Specific survey on the effectivity of the implemented emergency plans and risk management procedures sent to the test-bed basin authorities that participate in the project o Analysis of the answers from the questionnaire and further research on their methodologies for risk evaluation o Compilation of available follow-up studies carried out after major flood events in the four test-bed basins analyzed o Collection of the lessons learnt through a comparative analysis of the previous information o Recommendations for future strategies on risk management based on lessons learnt and management gaps detected through the process As the Floods Directive (FD) already states, the flood risks associated to FF & DF events should be assessed through the elaboration of Flood Risk

  15. Comparative radiation genetics. What we learnt from our studies on Medaka germ cell mutagenesis

    International Nuclear Information System (INIS)

    Shima, Akihiro

    2004-01-01

    Having been interested in studying germ cell mutagenesis from the biodiversity viewpoint, in 1985 we started developing a nonmammalian specific-locus test (SLT) system using the Medaka, Oryzias latipes. The tester strain with five marker loci, which is a prerequisite for SLT, was established by consecutive crossings of five spontaneous single mutants followed by selection based on the phenotype of each mutant. The genetic endpoints available were dominant lethal mutations (DLM), total specific-locus mutations (TSLM) and viable specific-locus mutations. Using γ-rays, ethylnitrosourea and Fe-ion beam as mutagens to which wild type males or females were exposed, we screened approx. 1.6 million F1 embryos that correspond to approx. 4.7 million loci. In an attempt to best express the comparative sensitivity of Medaka germ cells to the genetic effects of γ-rays, the gametic doubling doses for acute and high-dose γ-rays were estimated. Extensive sex differences within the wild type (HNI) strain as well as strain differences in male germ cells between the two wild type strains (HNI and Sakura) were notably found in doubling doses for DLM and TSLM. Interestingly, among these values, the doubling dose for TSLM in spermatogonia of the HNI strain (0.33 Gy) nearly coincided with that estimated from the Russell 7-locus system of mice (0.44 Gy). Our data also suggested that the initial genomic changes induced in male germ cells would not straightforwardly manifest themselves as phenotypic effects in F1 progeny, but that twofold checks, one a prefertilization check in the gonads against genomic alterations using DNA repair machinery as well as apoptotic response, and the other postfertilization check in developing embryos through dominant lethal effects. should operate to restore or ameliorate those genomic changes. More mechanistically, AP/PCR-RAPD DNA fingerprinting was employed in order to scan as wider regions of the zygotic genome as possible. These anonymous DNA markers

  16. Lessons Learnt and Mitigation Measures for the CERN LHC Equipment with RF fingers

    CERN Document Server

    Métral, E; Assmann, R W; Baglin, V; Barnes, M J; Berrig, O E; Bertarelli, A; Bregliozzi, G; Calatroni, S; Carra, F; Caspers, F; Day, H A; Ferro-Luzzi, M; Gallilee, M A; Garion, C; Garlasche, M; Grudiev, A; Jimenez, J M; Jones, R; Kononenko, O; Losito, R; Nougaret, J L; Parma, V; Redaelli, S; Salvant, B; Strubin, P; Veness, R; Vollinger, C; Weterings, W

    2013-01-01

    Beam-induced RF heating has been observed in several LHC components when the bunch/beam intensity was increased and/or the bunch length reduced. In particular eight bellows, out of the ten double-bellow modules present in the machine in 2011, were found with the spring, which should keep the RF fingers in good electrical contact with the central insert, broken. Following these observations, the designs of all the components of the LHC equipped with RF fingers have been reviewed. The lessons learnt and mitigation measures are presented in this paper.

  17. Project scoping for lessons learnt to apply to the Celtic Seas marine sub-region

    OpenAIRE

    Twomey, Sarah; O'Mahony, Cathal

    2013-01-01

    This report involves a formal scoping exercise to identify lessons from a wide range of previous and current project and initiative experiences at the national, regional seas, European and global levels. An inventory of 77 projects and initiatives that are relevant with regard to the key activities proposed by the Celtic Seas Partnership has been compiled, as well as a short-list of 23 of the most pertinent projects, lessons learnt and contact names. This report has identified a number of syn...

  18. Environmental implications for disaster preparedness: lessons learnt from the Indian Ocean Tsunami.

    Science.gov (United States)

    Srinivas, Hari; Nakagawa, Yuko

    2008-10-01

    The impact of disasters, whether natural or man-made, not only has human dimensions, but environmental ones as well. Environmental conditions may exacerbate the impact of a disaster, and vice versa, disasters tend to have an impact on the environment. Deforestation, forest management practices, or agriculture systems can worsen the negative environmental impacts of a storm or typhoon, leading to landslides, flooding, silting, and ground/surface water contamination. We have only now come to understand these cyclical causes and impacts and realize that taking care of our natural resources and managing them wisely not only assures that future generations will be able to live in sustainable ways, but also reduces the risks that natural and man-made hazards pose to people living today. Emphasizing and reinforcing the centrality of environmental concerns in disaster management has become a critical priority, requiring the sound management of natural resources as a tool to prevent disasters and lessen their impacts on people, their homes, and livelihoods. As the horrors of the Asian tsunami of December 2004 continue to be evaluated, and people in the region slowly attempt to build a semblance of normalcy, we have to look to the lessons learnt from the tsunami disaster as an opportunity to prepare ourselves better for future disasters. This article focuses on findings and lessons learnt on the environmental aspects of the tsunami, and its implications on disaster preparedness plans. This article essentially emphasizes the cyclical interrelations between environments and disasters, by studying the findings and assessments of the recent Indian Ocean earthquake and tsunami that struck on 26 December 2004. It specifically looks at four key affected countries--Maldives, Sri Lanka, Indonesia, and Thailand.

  19. Multiplexing clonality: combining RGB marking and genetic barcoding

    Science.gov (United States)

    Cornils, Kerstin; Thielecke, Lars; Hüser, Svenja; Forgber, Michael; Thomaschewski, Michael; Kleist, Nadja; Hussein, Kais; Riecken, Kristoffer; Volz, Tassilo; Gerdes, Sebastian; Glauche, Ingmar; Dahl, Andreas; Dandri, Maura; Roeder, Ingo; Fehse, Boris

    2014-01-01

    RGB marking and DNA barcoding are two cutting-edge technologies in the field of clonal cell marking. To combine the virtues of both approaches, we equipped LeGO vectors encoding red, green or blue fluorescent proteins with complex DNA barcodes carrying color-specific signatures. For these vectors, we generated highly complex plasmid libraries that were used for the production of barcoded lentiviral vector particles. In proof-of-principle experiments, we used barcoded vectors for RGB marking of cell lines and primary murine hepatocytes. We applied single-cell polymerase chain reaction to decipher barcode signatures of individual RGB-marked cells expressing defined color hues. This enabled us to prove clonal identity of cells with one and the same RGB color. Also, we made use of barcoded vectors to investigate clonal development of leukemia induced by ectopic oncogene expression in murine hematopoietic cells. In conclusion, by combining RGB marking and DNA barcoding, we have established a novel technique for the unambiguous genetic marking of individual cells in the context of normal regeneration as well as malignant outgrowth. Moreover, the introduction of color-specific signatures in barcodes will facilitate studies on the impact of different variables (e.g. vector type, transgenes, culture conditions) in the context of competitive repopulation studies. PMID:24476916

  20. The combined use of embryos and semen for cryogenic conservation of mammalian livestock genetic resources

    Directory of Open Access Journals (Sweden)

    Pizzi Flavia

    2005-11-01

    Full Text Available Abstract The objective of this empirical simulation study was to evaluate the use of a combination of semen and embryos in the creation of gene banks for reconstruction of an extinct breed. Such an approach was compared for banks with varying proportions of embryos on the basis of the amount of the material to be stored, time for reconstruction, maintenance of genetic variability, and probability of failure during reconstruction. Four types of populations were simulated, based on reproductive rate: single offspring, twinning, enhanced reproduction, and litter bearing. Reconstruction was simulated for banks consisting of different combinations of semen and reduced numbers of embryos (expressed as a percentage of the material needed for a bank containing exclusively embryos and ranging from 10 to 90%. The use of a combination of semen and embryos increased the number of insemination cycles needed for reconstruction and the level of genetic relatedness in the reconstructed population. The risk for extinction was unacceptably high when a very low proportion of embryos (

  1. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes

    OpenAIRE

    George, Steven Z.; Parr, Jeffrey J.; Wallace, Margaret R.; Wu, Samuel S.; Borsa, Paul A.; Dai, Yunfeng; Fillingim, Roger B.

    2013-01-01

    Chronic pain is influenced by biological, psychological, social, and cultural factors. The current study investigated potential roles for combinations of genetic and psychological factors in the development and/or maintenance of chronic musculoskeletal pain. An exercise-induced shoulder injury model was used and a priori selected genetic (ADRB2, COMT, OPRM1, AVPR1A, GCH1, and KCNS1) and psychological (anxiety, depressive symptoms, pain catastrophizing, fear of pain, and kinesiophobia) factors...

  2. A Grounded Theory Approach in a Branding Context: Challenges and lessons learnt during the research process

    Directory of Open Access Journals (Sweden)

    Anne Rindell, PhD.

    2009-06-01

    Full Text Available The purpose of this paper is to discuss challenges and lessons learnt when conducting a classic grounded theory study in a marketing context. The paper focuses on two specific challenges that were met during a specific research process. The first challenge related to positioning the study, namely, specifying“what the study is a study of”. The second challenge concerned the choice between formal or substantive theory. Both challenges were accentuated as the emerged core category concerned a phenomenon that has caught less attention in marketing, that is, the temporal dimension in corporate images. By the temporal dimension in corporate images we mean that corporate images often have roots in earlier times through consumer memories. In other words, consumers are not tabula rasa, that is, blank sheets of paper on which communication messages can be printed. Rather, consumers have a pre-understanding of the company that works as an interpretation framework for company actions in the present. The lessons learnt from this research process can be summarized as “stay faithful to the data”, “write memos on issues you reflect upon although they might be in another substantial field” as they might become useful later, and, “look into thinking in other disciplines” as disciplines do not develop equally.

  3. A genetic risk score combining ten psoriasis risk loci improves disease prediction.

    Directory of Open Access Journals (Sweden)

    Haoyan Chen

    2011-04-01

    Full Text Available Psoriasis is a chronic, immune-mediated skin disease affecting 2-3% of Caucasians. Recent genetic association studies have identified multiple psoriasis risk loci; however, most of these loci contribute only modestly to disease risk. In this study, we investigated whether a genetic risk score (GRS combining multiple loci could improve psoriasis prediction. Two approaches were used: a simple risk alleles count (cGRS and a weighted (wGRS approach. Ten psoriasis risk SNPs were genotyped in 2815 case-control samples and 858 family samples. We found that the total number of risk alleles in the cases was significantly higher than in controls, mean 13.16 (SD 1.7 versus 12.09 (SD 1.8, p = 4.577×10(-40. The wGRS captured considerably more risk than any SNP considered alone, with a psoriasis OR for high-low wGRS quartiles of 10.55 (95% CI 7.63-14.57, p = 2.010×10(-65. To compare the discriminatory ability of the GRS models, receiver operating characteristic curves were used to calculate the area under the curve (AUC. The AUC for wGRS was significantly greater than for cGRS (72.0% versus 66.5%, p = 2.13×10(-8. Additionally, the AUC for HLA-C alone (rs10484554 was equivalent to the AUC for all nine other risk loci combined (66.2% versus 63.8%, p = 0.18, highlighting the dominance of HLA-C as a risk locus. Logistic regression revealed that the wGRS was significantly associated with two subphenotypes of psoriasis, age of onset (p = 4.91×10(-6 and family history (p = 0.020. Using a liability threshold model, we estimated that the 10 risk loci account for only 11.6% of the genetic variance in psoriasis. In summary, we found that a GRS combining 10 psoriasis risk loci captured significantly more risk than any individual SNP and was associated with early onset of disease and a positive family history. Notably, only a small fraction of psoriasis heritability is captured by the common risk variants identified to date.

  4. Electricity prices in Spain between 2000 and 2011: lessons to be learnt from a descent into Hell

    International Nuclear Information System (INIS)

    2011-01-01

    This note aims at analysing the impact of public authorities' decisions on the Spanish electricity tariffing system since the year 2000: 1 - the Spanish electricity tariff out of touch; 2 - the strategic choice made by Spain; 3 - 2008 crisis and securitization; 4 - a desperate attempt to move backward; 5 - the last ten years balance sheet for the Spanish power system; 6 - the lessons to be learnt from the Spanish experience

  5. Optimizing maintenance and repair policies via a combination of genetic algorithms and Monte Carlo simulation

    International Nuclear Information System (INIS)

    Marseguerra, M.; Zio, E.

    2000-01-01

    In this paper we present an optimization approach based on the combination of a Genetic Algorithms maximization procedure with a Monte Carlo simulation. The approach is applied within the context of plant logistic management for what concerns the choice of maintenance and repair strategies. A stochastic model of plant operation is developed from the standpoint of its reliability/availability behavior, i.e. of the failure/repair/maintenance processes of its components. The model is evaluated by Monte Carlo simulation in terms of economic costs and revenues of operation. The flexibility of the Monte Carlo method allows us to include several practical aspects such as stand-by operation modes, deteriorating repairs, aging, sequences of periodic maintenances, number of repair teams available for different kinds of repair interventions (mechanical, electronic, hydraulic, etc.), components priority rankings. A genetic algorithm is then utilized to optimize the components maintenance periods and number of repair teams. The fitness function object of the optimization is a profit function which inherently accounts for the safety and economic performance of the plant and whose value is computed by the above Monte Carlo simulation model. For an efficient combination of Genetic Algorithms and Monte Carlo simulation, only few hundreds Monte Carlo histories are performed for each potential solution proposed by the genetic algorithm. Statistical significance of the results of the solutions of interest (i.e. the best ones) is then attained exploiting the fact that during the population evolution the fit chromosomes appear repeatedly many times. The proposed optimization approach is applied on two case studies of increasing complexity

  6. Developing written information for cancer survivors from culturally and linguistically diverse backgrounds: Lessons learnt

    Directory of Open Access Journals (Sweden)

    Georgina Wiley

    2018-01-01

    Full Text Available Australia is a multicultural nation with a large migrant population. Migrants with cancer report inferior quality of life and the need for more information in their own language. This paper describes lessons learnt from developing culturally appropriate written information resources with and for Arabic, Italian, and Vietnamese cancer survivors and carers. The information needs of survivors from these language groups as well as guidelines for the development of written resources for culturally diverse populations were identified through literature review. Community consultation was undertaken with focus groups. The content was developed and tested with health professionals who spoke the appropriate language and focus group participants, ensuring relevance and appropriateness. Resource design and dissemination were informed through community consultation. A number of key tasks for developing resources were identified as follows: (1 community engagement and consultation; (2 culturally sensitive data collection; (3 focus group facilitators (recruitment and training; (4 content development; (5 translation and review process; (6 design; and (7 sustainability. This project reinforced literature review findings on the importance of cultural sensitivity in the development of resources. Engaging with community groups and incorporating culturally appropriate recruitment strategies optimises recruitment to focus groups and facilitates content development. Stakeholders and lay persons from the intended ethnic-minority communities should be involved in the development and formative evaluation of resources to ensure appropriateness and relevance and in the dissemination strategy to optimize penetration. We believe the lessons we have learnt will be relevant to any group intending to develop health information for culturally and linguistic diverse groups.

  7. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Chou, Janet; Bainter, Wayne; Platt, Craig D; Tavassoli, Mahmood; Momen, Tooba; Tavakol, Marzieh; Eslamian, Mohammad Hossein; Gharagozlou, Mohammad; Movahedi, Masoud; Ghadami, Mohsen; Hamidieh, Amir Ali; Azizi, Gholamreza; Yazdani, Reza; Afarideh, Mohsen; Ghajar, Alireza; Havaei, Arash; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Cheraghi, Taher; Behniafard, Nasrin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Najmeddin; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Dabbaghzadeh, Abbas; Shirkani, Afshin; Nasiri Kalmarzi, Rasoul; Mortazavi, Seyed Hamidreza; Tafaroji, Javad; Khalili, Abbas; Mohammadi, Javad; Negahdari, Babak; Joghataei, Mohammad-Taghi; Al-Ramadi, Basel K; Picard, Capucine; Parvaneh, Nima; Rezaei, Nima; Chatila, Talal A; Massaad, Michel J; Keles, Sevgi; Hammarström, Lennart; Geha, Raif S; Aghamohammadi, Asghar

    2018-04-01

    Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  8. Teachers' Social Capital as a Resource for Curriculum Development: Lessons Learnt in the Implementation of a Child-Friendly Schools Programme

    Science.gov (United States)

    Modipane, Mpho; Themane, Mahlapahlapana

    2014-01-01

    This paper reports on lessons learnt in the use of teachers' social capital as a resource for curriculum development, in the implementation of the Child-Friendly Schools (CFS) programme in South Africa. The researchers in this study were amongst the trainers. The study followed a qualitative research approach, where a descriptive research design…

  9. Combining epidemiological and genetic networks signifies the importance of early treatment in HIV-1 transmission.

    Science.gov (United States)

    Zarrabi, Narges; Prosperi, Mattia; Belleman, Robert G; Colafigli, Manuela; De Luca, Andrea; Sloot, Peter M A

    2012-01-01

    Inferring disease transmission networks is important in epidemiology in order to understand and prevent the spread of infectious diseases. Reconstruction of the infection transmission networks requires insight into viral genome data as well as social interactions. For the HIV-1 epidemic, current research either uses genetic information of patients' virus to infer the past infection events or uses statistics of sexual interactions to model the network structure of viral spreading. Methods for a reliable reconstruction of HIV-1 transmission dynamics, taking into account both molecular and societal data are still lacking. The aim of this study is to combine information from both genetic and epidemiological scales to characterize and analyse a transmission network of the HIV-1 epidemic in central Italy.We introduce a novel filter-reduction method to build a network of HIV infected patients based on their social and treatment information. The network is then combined with a genetic network, to infer a hypothetical infection transmission network. We apply this method to a cohort study of HIV-1 infected patients in central Italy and find that patients who are highly connected in the network have longer untreated infection periods. We also find that the network structures for homosexual males and heterosexual populations are heterogeneous, consisting of a majority of 'peripheral nodes' that have only a few sexual interactions and a minority of 'hub nodes' that have many sexual interactions. Inferring HIV-1 transmission networks using this novel combined approach reveals remarkable correlations between high out-degree individuals and longer untreated infection periods. These findings signify the importance of early treatment and support the potential benefit of wide population screening, management of early diagnoses and anticipated antiretroviral treatment to prevent viral transmission and spread. The approach presented here for reconstructing HIV-1 transmission networks

  10. Lessons learnt from Fukushima Accident - What did McMaster Undergraduate Students learn?

    Energy Technology Data Exchange (ETDEWEB)

    Nagasaki, S., E-mail: nagasas@mcmaster.ca [McMaster University, Hamilton, ON, (Canada)

    2015-07-01

    Nuclear communities not only in Japan but also around the world learnt a lot of lessons from the Fukushima accident. The direct cause of the accident from the viewpoint of traditional engineering is clear, and as a result various measures have been implemented around the world. The accident also provides many insights into the relationship between traditional engineering and Japanese society. In this paper, the root causes of the accident were studied by applying a psychological model for evocation of an individual's anxiety related to social affairs [1] to the discussions in an undergraduate course at McMaster University. In the last section, the challenges, which McMaster students considered Japanese nuclear community is now facing and Canadian nuclear community can contribute to in future, are summarized. (author)

  11. Lessons learnt from Fukushima Accident - What did McMaster Undergraduate Students learn?

    International Nuclear Information System (INIS)

    Nagasaki, S.

    2015-01-01

    Nuclear communities not only in Japan but also around the world learnt a lot of lessons from the Fukushima accident. The direct cause of the accident from the viewpoint of traditional engineering is clear, and as a result various measures have been implemented around the world. The accident also provides many insights into the relationship between traditional engineering and Japanese society. In this paper, the root causes of the accident were studied by applying a psychological model for evocation of an individual's anxiety related to social affairs [1] to the discussions in an undergraduate course at McMaster University. In the last section, the challenges, which McMaster students considered Japanese nuclear community is now facing and Canadian nuclear community can contribute to in future, are summarized. (author)

  12. Optimization of fog inlet air cooling system for combined cycle power plants using genetic algorithm

    International Nuclear Information System (INIS)

    Ehyaei, Mehdi A.; Tahani, Mojtaba; Ahmadi, Pouria; Esfandiari, Mohammad

    2015-01-01

    In this research paper, a comprehensive thermodynamic modeling of a combined cycle power plant is first conducted and the effects of gas turbine inlet fogging system on the first and second law efficiencies and net power outputs of combined cycle power plants are investigated. The combined cycle power plant (CCPP) considered for this study consist of a double pressure heat recovery steam generator (HRSG) to utilize the energy of exhaust leaving the gas turbine and produce superheated steam to generate electricity in the Rankine cycle. In order to enhance understanding of this research and come up with optimum performance assessment of the plant, a complete optimization is using a genetic algorithm conducted. In order to achieve this goal, a new objective function is defined for the system optimization including social cost of air pollution for the power generation systems. The objective function is based on the first law efficiency, energy cost and the external social cost of air pollution for an operational system. It is concluded that using inlet air cooling system for the CCPP system and its optimization results in an increase in the average output power, first and second law efficiencies by 17.24%, 3.6% and 3.5%, respectively, for three warm months of year. - Highlights: • To model the combined cycle power plant equipped with fog inlet air cooling method. • To conduct both exergy and economic analyses for better understanding. • To conduct a complete optimization using a genetic algorithm to determine the optimal design parameters of the system

  13. Renal services disaster planning: lessons learnt from the 2011 Queensland floods and North Queensland cyclone experiences.

    Science.gov (United States)

    Johnson, David W; Hayes, Bronwyn; Gray, Nicholas A; Hawley, Carmel; Hole, Janet; Mantha, Murty

    2013-01-01

    In 2011, Queensland dialysis services experienced two unprecedented natural disasters within weeks of each other. Floods in south-east Queensland and Tropical Cyclone Yasi in North Queensland caused widespread flooding, property damage and affected the provision of dialysis services, leading to Australia's largest evacuation of dialysis patients. This paper details the responses to the disasters and examines what worked and what lessons were learnt. Recommendations are made for dialysis units in relation to disaster preparedness, response and recovery. © 2012 The Authors. Nephrology © 2012 Asian Pacific Society of Nephrology.

  14. Combined Simulated Annealing and Genetic Algorithm Approach to Bus Network Design

    Science.gov (United States)

    Liu, Li; Olszewski, Piotr; Goh, Pong-Chai

    A new method - combined simulated annealing (SA) and genetic algorithm (GA) approach is proposed to solve the problem of bus route design and frequency setting for a given road network with fixed bus stop locations and fixed travel demand. The method involves two steps: a set of candidate routes is generated first and then the best subset of these routes is selected by the combined SA and GA procedure. SA is the main process to search for a better solution to minimize the total system cost, comprising user and operator costs. GA is used as a sub-process to generate new solutions. Bus demand assignment on two alternative paths is performed at the solution evaluation stage. The method was implemented on four theoretical grid networks of different size and a benchmark network. Several GA operators (crossover and mutation) were utilized and tested for their effectiveness. The results show that the proposed method can efficiently converge to the optimal solution on a small network but computation time increases significantly with network size. The method can also be used for other transport operation management problems.

  15. Combining Ability Analysis and Genetic-Effects Studies for Some Important Quality Characters in Brassica napus L.

    Directory of Open Access Journals (Sweden)

    Aamar Shehzad

    2015-10-01

    Full Text Available Combining ability analysis has an important position in rapeseed breeding. To evaluate genetic and combining ability effects, three Brassica napus L. testers “Punjab Sarson, Legend and Durre-NIFA” and five lines “Duncled, K-258, ZN-R-1, ZN-R-8, ZN-M-6” were crossed using line × tester design in Randomized Complete Block Design (RCBD with three replications. Mean sum of squares of the analysis of variances (ANOVA for genotypes was highly significant for all of the traits. Most of the lines and testers exhibited significant results of mean sum of squares for combining ability. Line ‘Duncled’ was proved good general combiner for oil (8.8, protein (3.7, erucic acid (33.0, oleic acid (13.0 and glucosinolate (-19.3 over other lines and tester ‘Durree-NIFA’ for protein (6.6, erucic acid (-23.4, and linolenic acid (-5.3 over other testers. Significant specific combining ability effects were also observed. The best hybrid combinations were Legend × ZN-R-1 for oil (9.6, Punjab Sarson × Duncled for minimum erucic acid (-14.0 and linolenic acid contents (-6.0, and Legend × ZN-M-6 for maximum protein (8.2 and minimum glucosinolate contents (-11.1. The maximum oil contents were observed in ‘Legend × ZN-R-1’ (52.4%. The cross ‘Punjab Sarson × Duncled’ expressed maximum values of protein (26.5% and oleic acid (62.5% while minimum for erucic acid (2.3%, linolenic acid (5.4% and glucosinolate contents (19.3µmol/g. This research discloses the significance of non-additive genetic effects for most of the studied traits except oil contents. These studies will also help to improve nutritional values of rapeseed crop by selecting noble crosses.

  16. Practical experiences of, and lessons learnt from, Internet technologies in higher education

    Directory of Open Access Journals (Sweden)

    Simon Polovina

    1999-01-01

    Full Text Available The paper addresses how the Internet as computer-mediated communication is affecting teaching and learning in higher education institutions, particularly as these institutions face increasing competition due to the emergence of Web-based collaboration and assessment technologies. London’s South Bank University (SBU, a typical modern-day higher education institution is thereby in the process of integrating Internet technologies into its conventional and distance learning programmes. From its practical experiences so far SBU has learnt a variety of valuable lessons. In particular the technical and social aspects that determine the choice and use of the most appropriate software tools were identified, as well as a new approach towards online (Internet / Web subject reference sources was outlined. From SBU’s anecdotal experiences, useful recommendations are made for the effective use of Internet technologies that applies to many higher educational institutions.

  17. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  18. Lessons learnt from Ignalina NPP decommissioning project

    International Nuclear Information System (INIS)

    NAISSE, Jean-Claude

    2007-01-01

    The Ignalina Nuclear Power Plant (INPP) is located in Lithuania, 130 km north of Vilnius, and consists of two 1500 MWe RBMK type units, commissioned respectively in December 1983 and August 1987. On the 1. of May 2004, the Republic of Lithuania became a member of the European Union. With the protocol on the Ignalina Nuclear Power in Lithuania which is annexed to the Accession Treaty, the Contracting Parties have agreed: - On Lithuanian side, to commit closure of unit 1 of INPP before 2005 and of Unit 2 by 31 December 2009; - On European Union side, to provide adequate additional Community assistance to the efforts of Lithuania to decommission INPP. The paper is divided in two parts. The first part describes how, starting from this agreement, the project was launched and organized, what is its present status and which activities are planned to reach the final ambitious objective of a green field. To give a global picture, the content of the different projects that were defined and the licensing process will also be presented. In the second part, the paper will focus on the lessons learnt. It will explain the difficulties encountered to define the decommissioning strategy, considering both immediate or differed dismantling options and why the first option was finally selected. The paper will mention other challenges and problems that the different actors of the project faced and how they were managed and solved. The paper will be written by representatives of the Ignalina NPP and of the Project Management Unit. (author)

  19. Lessons learnt on recruitment and fieldwork from a pilot European human biomonitoring survey

    DEFF Research Database (Denmark)

    Fiddicke, Ulrike; Becker, Kerstin; Schwedler, Gerda

    2015-01-01

    , training of interviewers in all issues of recruitment, fieldwork and sampling through information material and training sessions is crucial. A survey involving many European countries needs time for preparation and conduct. Materials for quality control prepared for all steps of recruitment, fieldwork...... biomonitoring (HBM) survey which came into action as the pilot study DEMOCOPHES (DEMOnstration of a study to COordinate and Perform Human biomonitoring on a European Scale). Seventeen European countries conducted a survey with harmonized instruments for, inter alia, recruitment, fieldwork and sampling......, in autumn/winter 2011/2012. Based on the countries' experiences of conducting the pilot study, following lessons learnt were compiled: the harmonized fieldwork instruments (basic questionnaire, urine and hair sampling) turned out to be very valuable for future HBM surveys on the European scale. A school...

  20. Registration of TLS and MLS Point Cloud Combining Genetic Algorithm with ICP

    Directory of Open Access Journals (Sweden)

    YAN Li

    2018-04-01

    Full Text Available Large scene point cloud can be quickly acquired by mobile laser scanning (MLS technology,which needs to be supplemented by terrestrial laser scanning (TLS point cloud because of limited field of view and occlusion.MLS and TLS point cloud are located in geodetic coordinate system and local coordinate system respectively.This paper proposes an automatic registration method combined genetic algorithm (GA and iterative closed point ICP to achieve a uniform coordinate reference frame.The local optimizer is utilized in ICP.The efficiency of ICP is higher than that of GA registration,but it depends on a initial solution.GA is a global optimizer,but it's inefficient.The combining strategy is that ICP is enabled to complete the registration when the GA tends to local search.The rough position measured by a built-in GPS of a terrestrial laser scanner is used in the GA registration to limit its optimizing search space.To improve the GA registration accuracy,a maximum registration model called normalized sum of matching scores (NSMS is presented.The results for measured data show that the NSMS model is effective,the root mean square error (RMSE of GA registration is 1~5 cm and the registration efficiency can be improved by about 50% combining GA with ICP.

  1. Genetics Home Reference: ZAP70-related severe combined immunodeficiency

    Science.gov (United States)

    ... gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct ... genetic testing? How can I find a genetics professional in my area? Other Names for This Condition ...

  2. Genetic control and combining ability of flag leaf area and relative water content traits of bread wheat cultivars under drought stress condition

    Directory of Open Access Journals (Sweden)

    Golparvar Ahmad Reza

    2013-01-01

    Full Text Available In order to compare mode of inheritance, combining ability, heterosis and gene action in genetic control of traits flag leaf area, relative water content and grain filling rate of bread wheat under drought stress, a study was conducted on 8 cultivars using of Griffing’s method2 in fixed model. Mean square of general combining ability was significant also for all traits and mean square of specific combining ability was significant also for all traits except relative water content of leaf which show importance of both additive and dominant effects of genes in heredity of these traits under stress. GCA to SCA mean square ratio was significant for none of traits. Results of this study showed that non additive effects of genes were more important than additive effect for all traits. According to results we can understand that genetic improvement of mentioned traits will have low genetic efficiency by selection from the best crosses of early generations. Then it is better to delay selection until advanced generations and increase in heritability of these traits.

  3. Association between combinations of genetic polymorphisms and epidemiopathogenic forms of bovine paratuberculosis

    Directory of Open Access Journals (Sweden)

    Ramon A. Juste

    2018-02-01

    Full Text Available Control of major mycobacterial diseases affecting livestock is a challenging issue that requires different approaches. The use of genetic markers for improving resistance to Mycobacterium avium subsp. paratuberculosis infection in cattle has been explored as a promising population strategy We performed paratuberculosis epidemiopathogenic phenotypic and genotypic characterization involving 24 SNPs in six candidate genes (NOD2, CD209, SLC11A1, SP110, TLR2 and TLR4 on 502 slaughtered Friesian cows. In the current study, we investigate whether recently proposed paratuberculosis (PTB epidemiopathogenic (EP forms (apparently free-AF, latent-LAT and patent-PAT could be associated with some combination of these 24 SNPs. Best EP form grouping was obtained using a combination of 5 SNPs in four genes (CD209: rs210748127; SLC11A1: rs110090506; SP110: rs136859213 and rs110480812; and TLR2: rs41830058. These groups were defined according to the level of infection progression risk to patent epidemiopathogenic forms and showed the following distributions: LOWIN (low with 39 (8% cases (94.9% AF/5.1% LAT/0% PAT; LATIN (low with 17 (3% cases (5.9% AF/94.1% LAT/0% PAT; AVERIN (average with 413 (82% cases (52.1% AF/38.5% LAT/9.4% PAT and PATIN (patent with 33 (7% cases (36.4% AF/24.2% LAT/39.4% PAT. Age of slaughter was significantly higher for LATIN (88.3 months compared to AVERIN (65.3 months; p = 0.0007 and PATIN (59.1 months; p = 0.0004, and for LOWIN (73.9 months compared to PATIN (p = 0.0233, and nearly significant compared to AVERIN (p = 0.0572 These results suggest that some selected genetic polymorphisms have a potential use as markers of PTB EP forms and thus add a new tool for the control of this widespread infection.

  4. Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk

    Directory of Open Access Journals (Sweden)

    Carayol Jerome

    2010-02-01

    Full Text Available Abstract Background Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease. Method The accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population. Results In both samples, odds ratios (ORs increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49. The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59. Conclusions These results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk.

  5. Survey on national practices and lessons learnt from off-site nuclear emergency exercises

    International Nuclear Information System (INIS)

    Viktorsson, C.

    1993-01-01

    Nuclear emergency exercises are considered to make an important contribution to the efficiency of emergency preparedness. Generally, the details of the emergency exercises are specified for each country and often for each site, reflecting the particular features that exist in relation to general emergency arrangements. The Chernobyl accident brought a new dimension into the arena of emergency arrangements - the international dimension. New conventions and revised international guidance have been issued and have been or are being included in national emergency plans. The OECD Nuclear Energy Agency decided in 1990 to promote international co-operation in the field of emergency exercises and has adopted a programme of work in this field. One component of this programme, which concerns a survey on national practices and lessons learnt from the planning and conduct of emergency exercises, is dealt with in this paper

  6. Articulated Human Motion Tracking Using Sequential Immune Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Yi Li

    2013-01-01

    Full Text Available We formulate human motion tracking as a high-dimensional constrained optimization problem. A novel generative method is proposed for human motion tracking in the framework of evolutionary computation. The main contribution is that we introduce immune genetic algorithm (IGA for pose optimization in latent space of human motion. Firstly, we perform human motion analysis in the learnt latent space of human motion. As the latent space is low dimensional and contents the prior knowledge of human motion, it makes pose analysis more efficient and accurate. Then, in the search strategy, we apply IGA for pose optimization. Compared with genetic algorithm and other evolutionary methods, its main advantage is the ability to use the prior knowledge of human motion. We design an IGA-based method to estimate human pose from static images for initialization of motion tracking. And we propose a sequential IGA (S-IGA algorithm for motion tracking by incorporating the temporal continuity information into the traditional IGA. Experimental results on different videos of different motion types show that our IGA-based pose estimation method can be used for initialization of motion tracking. The S-IGA-based motion tracking method can achieve accurate and stable tracking of 3D human motion.

  7. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... my area? Other Names for This Condition CPHD panhypopituitarism Related Information How are genetic conditions and genes ... Mody S, Brown MR, Parks JS. The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin ...

  8. Exploration of the Hypothalamic-Pituitary-Adrenal Axis to Improve Animal Welfare by Means of Genetic Selection: Lessons from the South African Merino

    Directory of Open Access Journals (Sweden)

    Schalk Cloete

    2013-05-01

    Full Text Available It is a difficult task to improve animal production by means of genetic selection, if the environment does not allow full expression of the animal’s genetic potential. This concept may well be the future for animal welfare, because it highlights the need to incorporate traits related to production and robustness, simultaneously, to reach sustainable breeding goals. This review explores the identification of potential genetic markers for robustness within the hypothalamic-pituitary-adrenal axis (HPAA, since this axis plays a vital role in the stress response. If genetic selection for superior HPAA responses to stress is possible, then it ought to be possible to breed robust and easily managed genotypes that might be able to adapt to a wide range of environmental conditions whilst expressing a high production potential. This approach is explored in this review by means of lessons learnt from research on Merino sheep, which were divergently selected for their multiple rearing ability. These two selection lines have shown marked differences in reproduction, production and welfare, which makes this breeding programme ideal to investigate potential genetic markers of robustness. The HPAA function is explored in detail to elucidate where such genetic markers are likely to be found.

  9. A Combination of Genetic Algorithm and Particle Swarm Optimization for Vehicle Routing Problem with Time Windows.

    Science.gov (United States)

    Xu, Sheng-Hua; Liu, Ji-Ping; Zhang, Fu-Hao; Wang, Liang; Sun, Li-Jian

    2015-08-27

    A combination of genetic algorithm and particle swarm optimization (PSO) for vehicle routing problems with time windows (VRPTW) is proposed in this paper. The improvements of the proposed algorithm include: using the particle real number encoding method to decode the route to alleviate the computation burden, applying a linear decreasing function based on the number of the iterations to provide balance between global and local exploration abilities, and integrating with the crossover operator of genetic algorithm to avoid the premature convergence and the local minimum. The experimental results show that the proposed algorithm is not only more efficient and competitive with other published results but can also obtain more optimal solutions for solving the VRPTW issue. One new well-known solution for this benchmark problem is also outlined in the following.

  10. A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia

    Directory of Open Access Journals (Sweden)

    Honghui Yang

    2010-10-01

    Full Text Available We demonstrate a hybrid machine learning method to classify schizophrenia patients and healthy controls, using functional magnetic resonance imaging (fMRI and single nucleotide polymorphism (SNP data. The method consists of four stages: (1 SNPs with the most discriminating information between the healthy controls and schizophrenia patients are selected to construct a support vector machine ensemble (SNP-SVME. (2 Voxels in the fMRI map contributing to classification are selected to build another SVME (Voxel-SVME. (3 Components of fMRI activation obtained with independent component analysis (ICA are used to construct a single SVM classifier (ICA-SVMC. (4 The above three models are combined into a single module using a majority voting approach to make a final decision (Combined SNP-fMRI. The method was evaluated by a fully-validated leave-one-out method using 40 subjects (20 patients and 20 controls. The classification accuracy was: 0.74 for SNP-SVME, 0.82 for Voxel-SVME, 0.83 for ICA-SVMC, and 0.87 for Combined SNP-fMRI. Experimental results show that better classification accuracy was achieved by combining genetic and fMRI data than using either alone, indicating that genetic and brain function representing different, but partially complementary aspects, of schizophrenia etiopathology. This study suggests an effective way to reassess biological classification of individuals with schizophrenia, which is also potentially useful for identifying diagnostically important markers for the disorder.

  11. Pilot towards developing a school mental health service : Experiences and lessons learnt in implementing Kenya integrated intervention model for dialogue and screening to promote children's mental well-being

    NARCIS (Netherlands)

    Mutiso, Victoria N.; Musyimi, Christine W.; Musau, Abednego M.; Nandoya, Erick S.; Mckenzie, Kwame; Ndetei, David M.

    2018-01-01

    Aim: This paper aims at documenting the process of implementing "Kenya Integrated intervention model for Dialogue and Screening to promote children's mental wellbeing (KIDS)", with emphasis on activities, experiences, challenges and lessons learnt through the process that can inform improvement in

  12. Influenza A (H1N1-2009) pandemic in Singapore--public health control measures implemented and lessons learnt.

    Science.gov (United States)

    Tay, Joanne; Ng, Yeuk Fan; Cutter, Jeffery L; James, Lyn

    2010-04-01

    We describe the public health control measures implemented in Singapore to limit the spread of influenza A (H1N1-2009) and mitigate its social effects. We also discuss the key learning points from this experience. Singapore's public health control measures were broadly divided into 2 phases: containment and mitigation. Containment strategies included the triage of febrile patients at frontline healthcare settings, admission and isolation of confirmed cases, mandatory Quarantine Orders (QO) for close contacts, and temperature screening at border entry points. After sustained community transmission became established, containment shifted to mitigation. Hospitals only admitted H1N1-2009 cases based on clinical indications, not for isolation. Mild cases were managed in the community. Contact tracing and QOs tapered off, and border temperature screening ended. The 5 key lessons learnt were: (1) Be prepared, but retain flexibility in implementing control measures; (2) Surveillance, good scientific information and operational research can increase a system's ability to manage risk during a public health crisis; (3) Integrated systems-level responses are essential for a coherent public health response; (4) Effective handling of manpower surges requires creative strategies; and (5) Communication must be strategic, timely, concise and clear. Singapore's effective response to the H1N1-2009 pandemic, founded on experience in managing the 2003 SARS epidemic, was a whole-of-government approach towards pandemic preparedness planning. Documenting the measures taken and lessons learnt provides a learning opportunity for both doctors and policy makers, and can help fortify Singapore's ability to respond to future major disease outbreaks.

  13. Improving South African third graders’ reading skills: Lessons learnt from the use of Guided Reading approach

    Directory of Open Access Journals (Sweden)

    Mohlanhledi P. Makumbila

    2016-06-01

    Full Text Available This professional development project, known as Literacy Leadership Project, enabled four Foundation Phase teachers in South Africa to implement the Guided Reading approach. Developed by American researchers Fountas and Pinnell (1996, Guided Reading helps elementary students strengthen their phonemic awareness, vocabulary, reading comprehension and fluency in small group activities. Over an 8-month period, lessons learnt came from data collected from this professional development included workshop activities, classroom observations, teachers’ group discussions and students’ artefacts. Results indicated improvement in students’ literacy engagement and motivation because of the use of levelled books, oral reading and group activities Keywords:  Guided Reading programme; foundation phase; childhood literacy; teacher professional development; literacy leadership; South Africa

  14. Combined genetic algorithm and multiple linear regression (GA-MLR) optimizer: Application to multi-exponential fluorescence decay surface.

    Science.gov (United States)

    Fisz, Jacek J

    2006-12-07

    The optimization approach based on the genetic algorithm (GA) combined with multiple linear regression (MLR) method, is discussed. The GA-MLR optimizer is designed for the nonlinear least-squares problems in which the model functions are linear combinations of nonlinear functions. GA optimizes the nonlinear parameters, and the linear parameters are calculated from MLR. GA-MLR is an intuitive optimization approach and it exploits all advantages of the genetic algorithm technique. This optimization method results from an appropriate combination of two well-known optimization methods. The MLR method is embedded in the GA optimizer and linear and nonlinear model parameters are optimized in parallel. The MLR method is the only one strictly mathematical "tool" involved in GA-MLR. The GA-MLR approach simplifies and accelerates considerably the optimization process because the linear parameters are not the fitted ones. Its properties are exemplified by the analysis of the kinetic biexponential fluorescence decay surface corresponding to a two-excited-state interconversion process. A short discussion of the variable projection (VP) algorithm, designed for the same class of the optimization problems, is presented. VP is a very advanced mathematical formalism that involves the methods of nonlinear functionals, algebra of linear projectors, and the formalism of Fréchet derivatives and pseudo-inverses. Additional explanatory comments are added on the application of recently introduced the GA-NR optimizer to simultaneous recovery of linear and weakly nonlinear parameters occurring in the same optimization problem together with nonlinear parameters. The GA-NR optimizer combines the GA method with the NR method, in which the minimum-value condition for the quadratic approximation to chi(2), obtained from the Taylor series expansion of chi(2), is recovered by means of the Newton-Raphson algorithm. The application of the GA-NR optimizer to model functions which are multi

  15. A simple method for combining genetic mapping data from multiple crosses and experimental designs.

    Directory of Open Access Journals (Sweden)

    Jeremy L Peirce

    Full Text Available BACKGROUND: Over the past decade many linkage studies have defined chromosomal intervals containing polymorphisms that modulate a variety of traits. Many phenotypes are now associated with enough mapping data that meta-analysis could help refine locations of known QTLs and detect many novel QTLs. METHODOLOGY/PRINCIPAL FINDINGS: We describe a simple approach to combining QTL mapping results for multiple studies and demonstrate its utility using two hippocampus weight loci. Using data taken from two populations, a recombinant inbred strain set and an advanced intercross population we demonstrate considerable improvements in significance and resolution for both loci. 1-LOD support intervals were improved 51% for Hipp1a and 37% for Hipp9a. We first generate locus-wise permuted P-values for association with the phenotype from multiple maps, which can be done using a permutation method appropriate to each population. These results are then assigned to defined physical positions by interpolation between markers with known physical and genetic positions. We then use Fisher's combination test to combine position-by-position probabilities among experiments. Finally, we calculate genome-wide combined P-values by generating locus-specific P-values for each permuted map for each experiment. These permuted maps are then sampled with replacement and combined. The distribution of best locus-specific P-values for each combined map is the null distribution of genome-wide adjusted P-values. CONCLUSIONS/SIGNIFICANCE: Our approach is applicable to a wide variety of segregating and non-segregating mapping populations, facilitates rapid refinement of physical QTL position, is complementary to other QTL fine mapping methods, and provides an appropriate genome-wide criterion of significance for combined mapping results.

  16. Saliency Detection via Absorbing Markov Chain With Learnt Transition Probability.

    Science.gov (United States)

    Lihe Zhang; Jianwu Ai; Bowen Jiang; Huchuan Lu; Xiukui Li

    2018-02-01

    In this paper, we propose a bottom-up saliency model based on absorbing Markov chain (AMC). First, a sparsely connected graph is constructed to capture the local context information of each node. All image boundary nodes and other nodes are, respectively, treated as the absorbing nodes and transient nodes in the absorbing Markov chain. Then, the expected number of times from each transient node to all other transient nodes can be used to represent the saliency value of this node. The absorbed time depends on the weights on the path and their spatial coordinates, which are completely encoded in the transition probability matrix. Considering the importance of this matrix, we adopt different hierarchies of deep features extracted from fully convolutional networks and learn a transition probability matrix, which is called learnt transition probability matrix. Although the performance is significantly promoted, salient objects are not uniformly highlighted very well. To solve this problem, an angular embedding technique is investigated to refine the saliency results. Based on pairwise local orderings, which are produced by the saliency maps of AMC and boundary maps, we rearrange the global orderings (saliency value) of all nodes. Extensive experiments demonstrate that the proposed algorithm outperforms the state-of-the-art methods on six publicly available benchmark data sets.

  17. Genetically engineered mouse models of craniopharyngioma: an opportunity for therapy development and understanding of tumor biology.

    Science.gov (United States)

    Apps, John Richard; Martinez-Barbera, Juan Pedro

    2017-05-01

    Adamantinomatous craniopharyngioma (ACP) is the commonest tumor of the sellar region in childhood. Two genetically engineered mouse models have been developed and are giving valuable insights into ACP biology. These models have identified novel pathways activated in tumors, revealed an important function of paracrine signalling and extended conventional theories about the role of organ-specific stem cells in tumorigenesis. In this review, we summarize these mouse models, what has been learnt, their limitations and open questions for future research. We then discussed how these mouse models may be used to test novel therapeutics against potentially targetable pathways recently identified in human ACP. © 2017 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.

  18. Methods used and lessons learnt in conducting document reviews of medical and allied health curricula ? a key step in curriculum evaluation

    OpenAIRE

    Rohwer, Anke; Schoonees, Anel; Young, Taryn

    2014-01-01

    Background This paper describes the process, our experience and the lessons learnt in doing document reviews of health science curricula. Since we could not find relevant literature to guide us on how to approach these reviews, we feel that sharing our experience would benefit researchers embarking on similar projects. Methods We followed a rigorous, transparent, pre-specified approach that included the preparation of a protocol, a pre-piloted data extraction form and coding schedule. Data we...

  19. Mapping infectious disease hospital surge threats to lessons learnt in Singapore: a systems analysis and development of a framework to inform how to DECIDE on planning and response strategies.

    Science.gov (United States)

    Singh, Shweta R; Coker, Richard; Vrijhoef, Hubertus J-M; Leo, Yee Sin; Chow, Angela; Lim, Poh Lian; Tan, Qinghui; Chen, Mark I-Cheng; Hildon, Zoe Jane-Lara

    2017-09-04

    Hospital usage and service demand during an Infectious Disease (ID) outbreak can tax the health system in different ways. Herein we conceptualize hospital surge elements, and lessons learnt from such events, to help build appropriately matched responses to future ID surge threats. We used the Interpretive Descriptive qualitative approach. Interviews (n = 35) were conducted with governance and public health specialists; hospital based staff; and General Practitioners. Key policy literature in tandem with the interview data were used to iteratively generate a Hospital ID Surge framework. We anchored our narrative account within this framework, which is used to structure our analysis. A spectrum of surge threats from combinations of capacity (for crowding) and capability (for treatment complexity) demands were identified. Starting with the Pyramid scenario, or an influx of high screening rates flooding Emergency Departments, alongside fewer and manageable admissions; the Reverse-Pyramid occurs when few cases are screened and admitted but those that are, are complex; during a 'Black' scenario, the system is overburdened by both crowding and complexity. The Singapore hospital system is highly adapted to crowding, functioning remarkably well at constant near-full capacity in Peacetime and resilient to Endemic surges. We catalogue 26 strategies from lessons learnt relating to staffing, space, supplies and systems, crystalizing institutional memory. The DECIDE model advocates linking these strategies to types of surge threats and offers a step-by-step guide for coordinating outbreak planning and response. Lack of a shared definition and decision making of surge threats had rendered the procedures somewhat duplicative. This burden was paradoxically exacerbated by a health system that highly prizes planning and forward thinking, but worked largely in silo until an ID crisis hit. Many such lessons can be put into play to further strengthen our current hospital governance

  20. Strengthening Regulatory Effectiveness in India – Lessons Learnt from Fukushima Accident

    International Nuclear Information System (INIS)

    Solanki, R.

    2016-01-01

    Following the Fukushima Daiichi accident in Japan, one of the most important lessons learnt, among other things, was the issue of strengthening the effectiveness of the regulatory bodies. Immediately after the Fukushima accident, National level safety audits were conducted on all operating NPPs in India to review safety of NPPs in India. A national action plan has been prepared to implement the identified short term, midterm and long term measures. The assessment indicates that national response to the Fukushima Accident for safety assessment of NPPs and subsequent actions and initiatives taken for safety enhancement of the NPPs in India are in-line with the objectives of the IAEA Action plan. This paper highlights the actions taken by India in the light of Fukushima Daiichi accident in order to strengthen the regulatory effectiveness through improvements in the existing core processes, challenges faced, Insights gained from the recent initiatives on safety performance indicators and assessment of safety culture, relevant observations of IRRS mission report and Indian perspectives on the further cooperation among the member states for enhancing the regulatory effectiveness for nuclear oversight of regulated organizations. (author)

  1. Flipped Learning, MOOCs and Learning Analytics: Lessons learnt from a Web Map Design course redesign

    Science.gov (United States)

    Treves, R.

    2013-12-01

    Five weeks content of a 12 week course in web map design were converted to 'flipped learning': Lecture sessions were replaced by online short video lectures and multiple choice questions to be completed outside class. Class time was taken up with activities and exercises linked to the online learning. Students use of the online content was carefully tracked and detailed student feedback gathered. The response from students was good, 90% of them completed all the out of class activities and their feedback was very positive. The format has the advantage of being easily repurposed as a MOOC or scaled up in other ways. Lessons learnt from the implementation of the materials and the analysis of the VLE logs will be discussed as will ongoing efforts to reuse the materials in a MOOC.

  2. Lessons learnt from 20 years surveillance of malaria drug resistance prior to the policy change in Burkina Faso.

    Science.gov (United States)

    Tinto, Halidou; Valea, Innocent; Ouédraogo, Jean-Bosco; Guiguemdé, Tinga Robert

    2016-01-01

    The history of drug resistance to the previous antimalarial drugs, and the potential for resistance to evolve to Artemisinin-based combination therapies, demonstrates the necessity to set-up a good surveillance system in order to provide early warning of the development of resistance. Here we report a review summarizing the history of the surveillance of drug resistance that led to the policy change in Burkina Faso. The first Plasmodium falciparum Chloroquine-Resistance strain identified in Burkina Faso was detected by an in vitro test carried out in Koudougou in 1983. Nevertheless, no further cases were reported until 1987, suggesting that resistant strains had been circulating at a low prevalence before the beginning of the systematic surveillance system from 1984. We observed a marked increase of Chloroquine-Resistance in 2002-2003 probably due to the length of follow-up as the follow-up duration was 7 or 14 days before 2002 and 28 days from 2002 onwards. Therefore, pre-2002 studies have probably under-estimated the real prevalence of Chloroquine-Resistance by not detecting the late recrudescence. With a rate of 8.2% treatment failure reported in 2003, Sulfadoxine-Pyrimethamine was still efficacious for the treatment of uncomplicated malaria in Burkina Faso but this rate might rapidly increase as the result of its spreading from neighboring countries and due to its current use for both the Intermittent Preventive Treatment in pregnant women and Seasonal Malaria Chemoprophylaxis. The current strategy for the surveillance of the Artemisinin-based combination treatments resistance should build on lessons learnt under the previous period of 20 years surveillance of Chloroquine and Sulfadoxine-Pyrimethamine resistance (1994-2004). The most important aspect being to extend the number of sentinel sites so that data would be less patchy and could help understanding the dynamic of the resistance.

  3. Phenotypic and Genetic Characterization of Circulating Tumor Cells by Combining Immunomagnetic Selection and FICTION Techniques

    Science.gov (United States)

    Campos, María; Prior, Celia; Warleta, Fernando; Zudaire, Isabel; Ruíz-Mora, Jesús; Catena, Raúl; Calvo, Alfonso; Gaforio, José J.

    2008-01-01

    The presence of circulating tumor cells (CTCs) in breast cancer patients has been proven to have clinical relevance. Cytogenetic characterization of these cells could have crucial relevance for targeted cancer therapies. We developed a method that combines an immunomagnetic selection of CTCs from peripheral blood with the fluorescence immunophenotyping and interphase cytogenetics as a tool for investigation of neoplasm (FICTION) technique. Briefly, peripheral blood (10 ml) from healthy donors was spiked with a predetermined number of human breast cancer cells. Nucleated cells were separated by double density gradient centrifugation of blood samples. Tumor cells (TCs) were immunomagnetically isolated with an anti-cytokeratin antibody and placed onto slides for FICTION analysis. For immunophenotyping and genetic characterization of TCs, a mixture of primary monoclonal anti-pancytokeratin antibodies was used, followed by fluorescent secondary antibodies, and finally hybridized with a TOP2A/HER-2/CEP17 multicolor probe. Our results show that TCs can be efficiently isolated from peripheral blood and characterized by FICTION. Because genetic amplification of TOP2A and ErbB2 (HER-2) in breast cancer correlates with response to anthracyclines and herceptin therapies, respectively, this novel methodology could be useful for a better classification of patients according to the genetic alterations of CTCs and for the application of targeted therapies. (J Histochem Cytochem 56:667–675, 2008) PMID:18413646

  4. Examples of great cross-border floods in Central Europe and lessons learnt (case studies of floods from September and November 1890 on the occasion of their 120th anniversary)

    Czech Academy of Sciences Publication Activity Database

    Munzar, Jan; Deutsch, M.; Ondráček, Stanislav; Kallabová, Eva

    2010-01-01

    Roč. 18, č. 4 (2010), s. 21-29 ISSN 1210-8812 Institutional research plan: CEZ:AV0Z30860518 Keywords : cross-border floods 1890 * Central Europe * lessons learnt Subject RIV: DA - Hydrology ; Limnology http://www.geonika.cz/CZ/CZresearch/CZMgrArchive.html

  5. Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.

    Science.gov (United States)

    Yapijakis, Christos; Pachis, Nikos; Voumvourakis, Costas

    2017-01-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia.

  6. Combining demographic and genetic factors to assess population vulnerability in stream species

    Science.gov (United States)

    Erin L, Landguth; Muhlfeld, Clint C.; Jones, Leslie W.; Waples, Robin S.; Whited, Diane; Lowe, Winsor H.; Lucotch, John; Neville, Helen; Luikart, Gordon

    2014-01-01

    Accelerating climate change and other cumulative stressors create an urgent need to understand the influence of environmental variation and landscape features on the connectivity and vulnerability of freshwater species. Here, we introduce a novel modeling framework for aquatic systems that integrates spatially explicit, individual-based, demographic and genetic (demogenetic) assessments with environmental variables. To show its potential utility, we simulated a hypothetical network of 19 migratory riverine populations (e.g., salmonids) using a riverscape connectivity and demogenetic model (CDFISH). We assessed how stream resistance to movement (a function of water temperature, fluvial distance, and physical barriers) might influence demogenetic connectivity, and hence, population vulnerability. We present demographic metrics (abundance, immigration, and change in abundance) and genetic metrics (diversity, differentiation, and change in differentiation), and combine them into a single vulnerability index for identifying populations at risk of extirpation. We considered four realistic scenarios that illustrate the relative sensitivity of these metrics for early detection of reduced connectivity: (1) maximum resistance due to high water temperatures throughout the network, (2) minimum resistance due to low water temperatures throughout the network, (3) increased resistance at a tributary junction caused by a partial barrier, and (4) complete isolation of a tributary, leaving resident individuals only. We then applied this demogenetic framework using empirical data for a bull trout (Salvelinus confluentus) metapopulation in the upper Flathead River system, Canada and USA, to assess how current and predicted future stream warming may influence population vulnerability. Results suggest that warmer water temperatures and associated barriers to movement (e.g., low flows, dewatering) are predicted to fragment suitable habitat for migratory salmonids, resulting in the loss

  7. Combining ability × environment interaction and genetic analysis for agronomic traits in safflower (Carthamus tinctorius L.: biplot as a tool for diallel data

    Directory of Open Access Journals (Sweden)

    Pooran Golkar

    2017-09-01

    Full Text Available Combining ability × environment interaction is considerable to identify the effect of environment on the combining ability and gene action of the traits to select appropriate parents for safflower hybrid production. The 36 genotype (28 F2 progenies of eight-parent half-diallel crosses across 8 parental genotypes of safflower were studied to investigate the mentioned parameters across different geographical regions of Iran. The results indicated significant differences among parents for general and specific combining ability, except for seeds per capitulum across three environments. The overall results indicated that K21 and Mex.22-191 were excellent parents with greater general combining ability for the improvement of seed yield in safflower. The K21 × Mex.22-191 hybrid could be, therefore, employed for the production of high seed yield in safflower breeding. The estimates of genetic variance components recommended the importance of additive- dominance genetic effects that contributed to variation in yield per plant. Such gene action expression for seed yield needs auxiliary methods based on hybridization and selection for seed yield advancement in safflower.

  8. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...... to the number of patients suffering from the disease. This hypothesis is based on a study of bipolar disorder....

  9. Modifications to the Patient Rule-Induction Method that utilize non-additive combinations of genetic and environmental effects to define partitions that predict ischemic heart disease

    DEFF Research Database (Denmark)

    Dyson, Greg; Frikke-Schmidt, Ruth; Nordestgaard, Børge G

    2009-01-01

    This article extends the Patient Rule-Induction Method (PRIM) for modeling cumulative incidence of disease developed by Dyson et al. (Genet Epidemiol 31:515-527) to include the simultaneous consideration of non-additive combinations of predictor variables, a significance test of each combination,...

  10. Twenty years of ABACC: Accomplishments, lessons learnt and future perspectives

    Energy Technology Data Exchange (ETDEWEB)

    Peixoto, Orpet J.M. [ABACC- Brazilian Argentine Agency for Accounting and Control of Nuclear Materials, Rio de Janeiro (Brazil)

    2012-06-15

    From the inception of the implementation of the Quadripartite Agreement (INFCIRC/435), in 1991, ABACC has had an important role at the non-proliferation agenda and has also been an active player in the international safeguards. It was necessary for ABACC to develop a technical capacity to face the challenges to be a safeguards agency and to gain credibility in the nuclear safeguards world. This capacity means to develop and implement safeguards systems in the technical area, in the inspection framework, in the conceptual analysis of processes and approaches and in the political scenario. These tasks conducted the strategic plan of ABACC on the last 20 years. Among the accomplishments, ABACC has been involved in the application of safeguards to sensitive and complex installations, in developing safeguards instrumentation, in establishing a technical and trained inspectorate, in constructing a cooperative and coordinate environment with IAEA for safeguards application. Other challenges as R and D of equipment and quality assurance systems were also managed during all these years. ESARDA is one forum that ABACC is involved and always shares experience and ideas. On July 18th, 2011 ABACC will formally complete 20 years. This paper summarizes the accomplishments, lessons learnt and future actions for strengthen the ABACC safeguards role. It also addresses the collaboration of ABACC with other organizations in the non-proliferation and international safeguards arena.

  11. Genomewide mapping reveals a combination of different genetic ...

    Indian Academy of Sciences (India)

    could not investigate all kinds of genetic effects, especially epistatic effects, simultaneously on the whole genome. ... consistent with different loci affecting heterosis for different ...... Jones D. F. 1917 Dominance of linked factors as a means of.

  12. Genetic variability induction in the size of the size of rice plantules by combined irradiation and temperature treatments

    International Nuclear Information System (INIS)

    Garcia, D.; Gonzalez, L.M.; Gumberra, R.

    1993-01-01

    Induced variability in the size of rice plantules was determined using the heritability calculation in a narrow sense, by means of the progenitor-descendant regression. Progenitor stands for the original variety, whereas descendant stands for plant population from CO6 0 gamma-rays irradiated seeds (at 100-600 Gy doses), treated at different temperatures. Results obtained: show the possibility to increase efficiency in variability induction by a combined course of action of both factors. In this experience, the best combination turned out to be 300 Gy-0 celsius grated, which of all the changes that it caused, some 75 percent was of a genetic nature

  13. Lessons Learnt of Thai Women Environmental Leaders

    Directory of Open Access Journals (Sweden)

    Sittipong Dilokwanich

    2015-07-01

    Full Text Available During the past few decades, Thai women have learned how to extent their roles from a care taker of children and a household to natural resources and environmental protection and management in local and inter-regional communities. Due to the application of National Economic and Social Development Plans, rapid resource exploitation has brought in natural resource and environmental degradation all over the country threatening communal security. For this reason, there have been a number of emerging environmental leaders who want to correct directions of national development, especially Thai woman environmental leaders who are taking a successful role of environmental guardian in their communities. This research attempts to explore why they took leadership role in environment, how they work so successful as an environmental guardian, and what their next move is. During early 2013 till mid-2014, there are 28 Thai woman leaders who received the award of Thai Environmental Conservation Mother from the Faculty of Environment and Resource Studies, Mahidol University between 2004 and 2012. They were in-depth interviewed and collected data were preceded by content analysis. Their lessons learnt show that most leaders saved their communities' environment and natural resources from the intervention of new development activities. Most of them had their parents as a good role model in environmental management who provide knowledge of morals and environmental ethics as a good basic of leadership while some shared their husband's responsibility in the same matter. Significantly, teamwork is their working style with the assistance of public participation to hold teamwork and collaboration of the community. Almost all leaders had systematic working with talents of patience, gentleness and sensitivity. The working network also broadens their new information and knowledge between practitioners. In the same time, more than half of the leaders can prepare their

  14. Multi-objective thermodynamic optimization of combined Brayton and inverse Brayton cycles using genetic algorithms

    International Nuclear Information System (INIS)

    Besarati, S.M.; Atashkari, K.; Jamali, A.; Hajiloo, A.; Nariman-zadeh, N.

    2010-01-01

    This paper presents a simultaneous optimization study of two outputs performance of a previously proposed combined Brayton and inverse Brayton cycles. It has been carried out by varying the upper cycle pressure ratio, the expansion pressure of the bottom cycle and using variable, above atmospheric, bottom cycle inlet pressure. Multi-objective genetic algorithms are used for Pareto approach optimization of the cycle outputs. The two important conflicting thermodynamic objectives that have been considered in this work are net specific work (w s ) and thermal efficiency (η th ). It is shown that some interesting features among optimal objective functions and decision variables involved in the Baryton and inverse Brayton cycles can be discovered consequently.

  15. Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology

    Directory of Open Access Journals (Sweden)

    Hovhannisyan Galina G

    2010-09-01

    Full Text Available Abstract Comet assay and micronucleus (MN test are widely applied in genotoxicity testing and biomonitoring. While comet assay permits to measure direct DNA-strand breaking capacity of a tested agent MN test allows estimating the induced amount of chromosome and/or genome mutations. The potential of these two methods can be enhanced by the combination with fluorescence in situ hybridization (FISH techniques. FISH plus comet assay allows the recognition of targets of DNA damage and repairing directly. FISH combined with MN test is able to characterize the occurrence of different chromosomes in MN and to identify potential chromosomal targets of mutagenic substances. Thus, combination of FISH with the comet assay or MN test proved to be promising techniques for evaluation of the distribution of DNA and chromosome damage in the entire genome of individual cells. FISH technique also permits to study comet and MN formation, necessary for correct application of these methods. This paper reviews the relevant literature on advantages and limitations of Comet-FISH and MN-FISH assays application in genetic toxicology.

  16. Effectiveness of the combined evaluation of KLK3 genetics and free-to-total prostate specific antigen ratio for prostate cancer diagnosis.

    Science.gov (United States)

    Zambon, Carlo-Federico; Prayer-Galetti, Tommaso; Basso, Daniela; Padoan, Andrea; Rossi, Elisa; Secco, Silvia; Pelloso, Michela; Fogar, Paola; Navaglia, Filippo; Moz, Stefania; Zattoni, Filiberto; Plebani, Mario

    2012-10-01

    Of serum prostate specific antigen variability 40% depends on inherited factors. We ascertained whether the knowledge of KLK3 genetics would enhance prostate specific antigen diagnostic performance in patients with clinical suspicion of prostate cancer. We studied 1,058 men who consecutively underwent prostate biopsy for clinical suspicion of prostate cancer. At histology prostate cancer was present in 401 cases and absent in 657. Serum total prostate specific antigen and the free-to-total prostate specific antigen ratio were determined. Four polymorphisms of the KLK3 gene (rs2569733, rs2739448, rs925013 and rs2735839) and 1 polymorphism of the SRD5A2 gene (rs523349) were studied. The influence of genetics on prostate specific antigen variability was evaluated by multivariate linear regression analysis. The performance of total prostate specific antigen and the free-to-total prostate specific antigen ratio alone or combined with a genetically based patient classification were defined by ROC curve analyses. For prostate cancer diagnosis the free-to-total prostate specific antigen ratio index alone (cutoff 11%) was superior to total prostate specific antigen (cutoff 4 ng/ml) and to free-to-total prostate specific antigen ratio reflex testing (positive predictive value 61%, 43% and 54%, respectively). Prostate specific antigen correlated with KLK3 genetics (rs2735839 polymorphism p = 0.001, and rs2569733, rs2739448 and rs925013 haplotype combination p = 0.003). In patients with different KLK3 genetics 2 optimal free-to-total prostate specific antigen ratio cutoffs (11% and 14.5%) were found. For free-to-total prostate specific antigen ratio values between 11% and 14.5% the prostate cancer probability ranged from 30.0% to 47.4% according to patient genetics. The free-to-total prostate specific antigen ratio is superior to total prostate specific antigen for prostate cancer diagnosis, independent of total prostate specific antigen results. Free-to-total prostate

  17. Performance Analysis of Combined Methods of Genetic Algorithm and K-Means Clustering in Determining the Value of Centroid

    Science.gov (United States)

    Adya Zizwan, Putra; Zarlis, Muhammad; Budhiarti Nababan, Erna

    2017-12-01

    The determination of Centroid on K-Means Algorithm directly affects the quality of the clustering results. Determination of centroid by using random numbers has many weaknesses. The GenClust algorithm that combines the use of Genetic Algorithms and K-Means uses a genetic algorithm to determine the centroid of each cluster. The use of the GenClust algorithm uses 50% chromosomes obtained through deterministic calculations and 50% is obtained from the generation of random numbers. This study will modify the use of the GenClust algorithm in which the chromosomes used are 100% obtained through deterministic calculations. The results of this study resulted in performance comparisons expressed in Mean Square Error influenced by centroid determination on K-Means method by using GenClust method, modified GenClust method and also classic K-Means.

  18. Managing burn victims of suicide bombing attacks: outcomes, lessons learnt, and changes made from three attacks in Indonesia.

    Science.gov (United States)

    Chim, Harvey; Yew, Woon Si; Song, Colin

    2007-01-01

    Terror attacks in Southeast Asia were almost nonexistent until the 2002 Bali bomb blast, considered the deadliest attack in Indonesian history. Further attacks in 2003 (Jakarta), 2004 (Jakarta), and 2005 (Bali) have turned terrorist attacks into an ever-present reality. The authors reviewed medical charts of victims evacuated to the Singapore General Hospital (SGH) Burns Centre during three suicide attacks involving Bali (2002 and 2005) and the Jakarta Marriott hotel (2003). Problems faced, lessons learnt, and costs incurred are discussed. A burns disaster plan drawing on lessons learnt from these attacks is presented. Thirty-one patients were treated at the SGH Burns Centre in three attacks (2002 Bali attack [n = 15], 2003 Jakarta attack [n = 14], and 2005 Bali attack [n = 2]). For the 2002 Bali attack, median age was 29 years (range 20 to 50 years), median percentage of total burn surface area (TBSA) was 29% (range 5% to 55%), and median abbreviated burn severity index (ABSI) was 6 (range 3 to 10). Eight of 15 patients were admitted to the intensive care unit. For the 2003 Jakarta attack, median age was 35 years (range 24 to 56 years), median percentage of TBSA was 10% (range 2% to 46%), and median ABSI was 4 (range 3 to 9). A large number of patients had other injuries. Problems faced included manpower issues, lack of bed space, shortage of blood products, and lack of cadaver skin. The changing nature of terror attacks mandates continued vigilance and disaster preparedness. The multidimensional burns patient, complicated by other injuries, is likely to become increasingly common. A burns disaster plan with emphasis on effective command, control, and communication as well as organisation of health care personnel following a 'team concept' will do much to ensure that the sudden onset of a crisis situation at an unexpected time does not overwhelm hospital manpower and resources.

  19. 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 ...

  20. Behavioral phenotypes in schizophrenic animal models with multiple combinations of genetic and environmental factors.

    Science.gov (United States)

    Hida, Hirotake; Mouri, Akihiro; Noda, Yukihiro

    2013-01-01

    Schizophrenia is a multifactorial psychiatric disorder in which both genetic and environmental factors play a role. Genetic [e.g., Disrupted-in-schizophrenia 1 (DISC1), Neuregulin-1 (NRG1)] and environmental factors (e.g., maternal viral infection, obstetric complications, social stress) may act during the developmental period to increase the incidence of schizophrenia. In animal models, interactions between susceptibility genes and the environment can be controlled in ways not possible in humans; therefore, such models are useful for investigating interactions between or within factors in the pathogenesis and pathophysiology of schizophrenia. We provide an overview of schizophrenic animal models investigating interactions between or within factors. First, we reviewed gene-environment interaction animal models, in which schizophrenic candidate gene mutant mice were subjected to perinatal immune activation or adolescent stress. Next, environment-environment interaction animal models, in which mice were subjected to a combination of perinatal immune activation and adolescent administration of drugs, were described. These animal models showed interaction between or within factors; behavioral changes, which were obscured by each factor, were marked by interaction of factors and vice versa. Appropriate behavioral approaches with such models will be invaluable for translational research on novel compounds, and also for providing insight into the pathogenesis and pathophysiology of schizophrenia.

  1. Field experiments for student learning – what I learnt in my first weeks in Sweden two decades ago

    Science.gov (United States)

    Seibert, Jan

    2015-04-01

    Field experiments can be extremely valuable for obtaining a good understanding of hydrological processes. In this poster I revisit a field course held by Allan Rodhe when I came to Sweden two decades ago, and ask myself, with a long-term perspective, what I learnt during this course. Some of the experiments are described in more detail such as the estimation of hydraulic conductivities based on groundwater salt dilution and an experiment to demonstrate the difference between flood-wave velocity and water particle velocity. Furthermore, some general thoughts on challenges to generate a good learning environment in the field are given based on my personal experiences as a student, an assistant and a teacher.

  2. Chronic disease risk management: Combining genetic testing with ...

    African Journals Online (AJOL)

    Nutrigenetics has been used for decades to prevent rare monogenic disorders such as phenylketonuria. Gene-diet interaction can now also be targeted to prevent or reduce the risk of many chronic conditions long before clinical manifestation. This multidisciplinary approach unites conventional medicine with genetics and ...

  3. The RAFT Telemedicine Network: Lessons Learnt and Perspectives from a Decade of Educational and Clinical Services in Low- and Middle-Incomes Countries.

    Science.gov (United States)

    Bediang, Georges; Perrin, Caroline; Ruiz de Castañeda, Rafael; Kamga, Yannick; Sawadogo, Alexandre; Bagayoko, Cheick Oumar; Geissbuhler, Antoine

    2014-01-01

    The objectives of this paper are to (i) provide an overview of the educational and clinical experiences of the Réseau en Afrique Francophone pour la Télémédecine (RAFT) network, (ii) analyze key challenges and lessons learnt throughout a decade of activity, and (iii) draw a vision and perspectives of its sustainability. The study was carried out following three main stages: (i) a literature review, (ii) the analysis of key documents, and (iii) discussions with key collaborators of the RAFT. Réseau en Afrique Francophone pour la Télémédecine has been offering an important quantity of educational, clinical, and public health activities during the last decade. The educational activities include the weekly delivery of video-lectures for continuing and post-graduate medical education, the use of virtual patients for training in clinical decision making, research training activities using ICTs and other e-learning activities. The clinical and public health activities include tele-expertise to support health professionals in the management of difficult clinical cases, the implementation of clinical information systems in African hospitals, the deployment of mHealth projects, etc. Since 2010, the RAFT has been extended to the Altiplano in Bolivia and Nepal (in progress). Lessons Learnt and Perspectives: Important lessons have been learnt from the accumulated experiences throughout these years. These lessons concern: social and organization, human resources, technologies and data security, policy and legislation, and economy and financing. Also, given the increase of the activities and the integration of eHealth and telemedicine in the health system of most of the countries, the RAFT network faces many other challenges and perspectives such as learning throughout life, recognition, and valorization of teaching or learning activities, the impact evaluation of interventions, and the scaling up and transferability out of Africa of RAFT activities. Based on the RAFT

  4. Lessons Learnt in the Development of Level 1 PUSPATI TRIGA Reactor Probability Safety Assessment: A Collaboration Project under the Norwegian Extra Budgetary Fund

    International Nuclear Information System (INIS)

    Mazleha Maskin; Tom, P.P.; Ahmad Hassan Sallehudin Mohd Sarif; Faizal Mohamed; Mohd Fazli Zakaria; Muhamad Puad Abu

    2014-01-01

    This article reports about the lessons learnt from the development of level 1 probabilistic safety assessment (PSA) project that was implemented under the IAEA mentoring program for TRIGA MARK II PUSPATI research reactor (RTP). As a project that involved more than 3 organizations, a strategic planning of the management and implementation of individual assignment is truly a hectic task. This report compiles all related activities from the forming of the Malaysian PSA team up to the final report submitted to the IAEA. (author)

  5. Assembly and Quality Control of the LHC Cryostats at CERN Motivations, Means, Results and Lessons Learnt

    CERN Document Server

    Poncet, A; Parma, V; Strubin, P; Tock, JP; Tommasini, D

    2007-01-01

    In 2001, the project management decided to perform at CERN the final assembly of the LHC superconducting magnets with cryostat parts and cold masses produced by European Industry in large series. This industrial-like production has required a very significant investment in tooling, production facilities, engineering and quality control efforts, in contractual partnership with a consortium of firms. This unusual endeavour of a limited lifetime represented more than 850,000 working hours spanning over five years, the work being done on a result-oriented basis by the contractor. This paper presents the reasons for having conducted this project at CERN, summarizes the work breakdown structure, the production means and methods, the infrastructure specially developed, the tooling, logistics and quality control aspects of the work performed and the results achieved, in analytical form. Finally, the lessons learnt are outlined.

  6. Implementation of Defence in Depth at Nuclear Power Plants. Lessons Learnt from the Fukushima Daiichi Accident

    International Nuclear Information System (INIS)

    Lachaume, Jean-Luc; Miller, Douglass; Rzentkowski, Greg; Lahtinen, Nina; Valtonen, Keijo; Foucher, Laurent; Harikumar, Shri S.; Yamada, Tomoho; Sharafutdinov, Rashet; Kuznetsov, Mark; Carlsson, Lennart; Hanberg, Jan; Theiss, Klaus; Holahan, Gary; Williams, Donna; Nuenighoff, Kay; Wattelle, Emmanuel; Lazo, Edward; White, Andrew; Reig, Javier; Salgado, Nancy; Weightman, Mike

    2016-01-01

    Defence in depth (DiD) is a concept that has been used for many years alongside tools to optimise nuclear safety in reactor design, assessment and regulation. The 2011 Fukushima Daiichi nuclear power plant accident raised many questions and gave unique insight into nuclear safety issues, including DiD. In June 2013, the NEA held a Joint Workshop on Challenges and Enhancements to DiD in Light of the Fukushima Daiichi Accident (NEA, 2014), organised by the NEA Committee on the Safety of Nuclear Installations (CSNI) and the NEA Committee on Nuclear Regulatory Activities (CNRA). It was noted at the time that further work would be beneficial to enhance nuclear safety worldwide, especially with regard to the implementation of DiD. Accordingly, a senior-level task group (STG) was set up to produce a regulatory guidance booklet that would assist member countries in the use of DiD, taking into account lessons learnt from the 2011 accident. This regulatory guidance booklet builds on the work of this NEA workshop, of the International Atomic Energy Agency (IAEA), the Western European Nuclear Regulators Association (WENRA) and of other members of the STG. It uses as its basis the International Nuclear Safety Advisory Group's Defence in Depth in Nuclear Safety study (INSAG-10) (IAEA, 1996). The booklet provides insights into the implementation of DiD by regulators and emergency management authorities after the Fukushima Daiichi accident, aiming to enhance global harmonisation by providing guidance on: - the background to the DiD concept; - the need for independent effectiveness among the safety provisions for the various DiD levels, to the extent practicable; - the need for greater attention to reinforce prevention and mitigation at the various levels; - the vital importance of ensuring that common cause and common mode failures, especially external events acting in combination, do not lead to breaches of safety provisions at several DiD levels, taking note of the

  7. Abandoning the common law: medical negligence, genetic tests and wrongful life in the Australian High Court.

    Science.gov (United States)

    Faunce, Thomas; Jefferys, Susannah

    2007-05-01

    The Australian High Court recently found that the common law could allow parents to claim tortious damages when medical negligence was proven to have led to the birth of an unplanned, but healthy, baby (Cattanach v Melchior (2003) 215 CLR 1). In Harriton v Stephens (2006) 80 ALJR 791; [2006] HCA 15 and Waller v James; Waller v Hoolahan (2006) 80 ALJR 846; [2006] HCA 16 the High Court in a six-to-one decision (Kirby J dissenting) decided that no such claim could be made by a child when medical negligence in failing to order an in utero genetic test caused the child severe disability. In an era when almost all pregnancies will soon require patented fetal genetic tests as part of the professional standard of care, the High Court, by barring so-called "wrongful life" (better termed "wrongful suffering") claims, may have created a partial immunity from suit for their corporate manufacturers and the doctors who administer them. What lessons can be learnt from this case about how the Australian High Court is, or should be, approaching medical negligence cases and its role as guardian of the Australian common law?

  8. A semi-supervised learning approach to predict synthetic genetic interactions by combining functional and topological properties of functional gene network

    Directory of Open Access Journals (Sweden)

    Han Kyungsook

    2010-06-01

    Full Text Available Abstract Background Genetic interaction profiles are highly informative and helpful for understanding the functional linkages between genes, and therefore have been extensively exploited for annotating gene functions and dissecting specific pathway structures. However, our understanding is rather limited to the relationship between double concurrent perturbation and various higher level phenotypic changes, e.g. those in cells, tissues or organs. Modifier screens, such as synthetic genetic arrays (SGA can help us to understand the phenotype caused by combined gene mutations. Unfortunately, exhaustive tests on all possible combined mutations in any genome are vulnerable to combinatorial explosion and are infeasible either technically or financially. Therefore, an accurate computational approach to predict genetic interaction is highly desirable, and such methods have the potential of alleviating the bottleneck on experiment design. Results In this work, we introduce a computational systems biology approach for the accurate prediction of pairwise synthetic genetic interactions (SGI. First, a high-coverage and high-precision functional gene network (FGN is constructed by integrating protein-protein interaction (PPI, protein complex and gene expression data; then, a graph-based semi-supervised learning (SSL classifier is utilized to identify SGI, where the topological properties of protein pairs in weighted FGN is used as input features of the classifier. We compare the proposed SSL method with the state-of-the-art supervised classifier, the support vector machines (SVM, on a benchmark dataset in S. cerevisiae to validate our method's ability to distinguish synthetic genetic interactions from non-interaction gene pairs. Experimental results show that the proposed method can accurately predict genetic interactions in S. cerevisiae (with a sensitivity of 92% and specificity of 91%. Noticeably, the SSL method is more efficient than SVM, especially for

  9. Genetics of allergy and bronchial hyperresponsiveness

    NARCIS (Netherlands)

    Howard, TD; Wiesch, DG; Koppelman, GH; Postma, DS; Meyers, DA; Bleecker, ER

    Allergy and asthma are closely related complex diseases caused by a combination of both genetic and environmental influences. Two common genetic approaches, candidate gene studies and genome-wide screens, have been used to localize and evaluate potential genetic factors that confer susceptibility or

  10. Applying the Innov8 approach for reviewing national health programmes to leave no one behind: lessons learnt from Indonesia

    Science.gov (United States)

    Saint, Victoria; Floranita, Rustini; Koemara Sakti, Gita Maya; Pambudi, Imran; Hermawan, Lukas; Villar, Eugenio; Magar, Veronica

    2018-01-01

    ABSTRACT The World Health Organization’s Innov8 Approach for Reviewing National Health Programmes to Leave No One Behind is an eight-step process that supports the operationalization of the Sustainable Development Goals’ commitment to ‘leave no one behind’. In 2014–2015, Innov8 was adapted and applied in Indonesia to review how the national neonatal and maternal health action plans could become more equity-oriented, rights-based and gender-responsive, and better address critical social determinants of health. The process was led by the Indonesian Ministry of Health, with the support of WHO. It involved a wide range of actors and aligned with/fed into the drafting of the maternal newborn health action plan and the implementation planning of the newborn action plan. Key activities included a sensitization meeting, diagnostic checklist, review workshop and in-country work by the review teams. This ‘methods forum’ article describes this adaptation and application process, the outcomes and lessons learnt. In conjunction with other sources, Innov8 findings and recommendations informed national and sub-national maternal and neonatal action plans and programming to strengthen a ‘leave no one behind’ approach. As follow-up during 2015–2017, components of the Innov8 methodology were integrated into district-level planning processes for maternal and newborn health, and Innov8 helped generate demand for health inequality monitoring and its use in planning. In Indonesia, Innov8 enhanced national capacity for equity-oriented, rights-based and gender-responsive approaches and addressing critical social determinants of health. Adaptation for the national planning context (e.g. decentralized structure) and linking with health inequality monitoring capacity building were important lessons learnt. The pilot of Innov8 in Indonesia suggests that this approach can help operationalize the SDGs’ commitment to leave no one behind, in particular in relation to

  11. Genetic Performance and General Combining Ability of Oil Palm Deli dura x AVROS pisifera Tested on Inland Soils

    Science.gov (United States)

    Noh, A.; Rafii, M. Y.; Saleh, G.; Kushairi, A.; Latif, M. A.

    2012-01-01

    The performance of 11 oil palm AVROS (Algemene Vereniging van Rubberplanters ter Oostkust van Sumatra) pisiferas was evaluated based on their 40 dura x pisifera (DxP) progenies tested on inland soils, predominantly of Serdang Series. Fresh fruit bunch (FFB) yield of each pisiferas ranged from 121.93 to 143.9 kg palm−1 yr−1 with trial mean of 131.62 kg palm−1 yr−1. Analysis of variance (ANOVA) showed low genetic variability among pisifera parents for most of the characters indicating uniformity of the pisifera population. This was anticipated as the AVROS pisiferas were derived from small population and were inbred materials. However, some of the pisiferas have shown good general combining ability (GCA) for certain important economic traits. Three pisiferas (P1 (0.174/247), P3 (0.174/498), P11 (0.182/308)) were identified of having good GCA for FFB yield while pisiferas P1 (0.174/247), P10 (0.182/348), and P11 (0.182/308) were good combiners for oil-to-bunch ratio (O/B). The narrow genetic base of these materials was the main obstacle in breeding and population improvement. However, efforts have been made to introgress this material with the vast oil palm germplasm collections of MPOB for rectifying the problem. PMID:22701095

  12. Genetic Performance and General Combining Ability of Oil Palm Deli dura x AVROS pisifera Tested on Inland Soils

    Directory of Open Access Journals (Sweden)

    A. Noh

    2012-01-01

    Full Text Available The performance of 11 oil palm AVROS (Algemene Vereniging van Rubberplanters ter Oostkust van Sumatra pisiferas was evaluated based on their 40 dura x pisifera (DxP progenies tested on inland soils, predominantly of Serdang Series. Fresh fruit bunch (FFB yield of each pisiferas ranged from 121.93 to 143.9 kg palm−1 yr−1 with trial mean of 131.62 kg palm−1 yr−1. Analysis of variance (ANOVA showed low genetic variability among pisifera parents for most of the characters indicating uniformity of the pisifera population. This was anticipated as the AVROS pisiferas were derived from small population and were inbred materials. However, some of the pisiferas have shown good general combining ability (GCA for certain important economic traits. Three pisiferas (P1 (0.174/247, P3 (0.174/498, P11 (0.182/308 were identified of having good GCA for FFB yield while pisiferas P1 (0.174/247, P10 (0.182/348, and P11 (0.182/308 were good combiners for oil-to-bunch ratio (O/B. The narrow genetic base of these materials was the main obstacle in breeding and population improvement. However, efforts have been made to introgress this material with the vast oil palm germplasm collections of MPOB for rectifying the problem.

  13. Selection of discriminant mid-infrared wavenumbers by combining a naïve Bayesian classifier and a genetic algorithm: Application to the evaluation of lignocellulosic biomass biodegradation.

    Science.gov (United States)

    Rammal, Abbas; Perrin, Eric; Vrabie, Valeriu; Assaf, Rabih; Fenniri, Hassan

    2017-07-01

    Infrared spectroscopy provides useful information on the molecular compositions of biological systems related to molecular vibrations, overtones, and combinations of fundamental vibrations. Mid-infrared (MIR) spectroscopy is sensitive to organic and mineral components and has attracted growing interest in the development of biomarkers related to intrinsic characteristics of lignocellulose biomass. However, not all spectral information is valuable for biomarker construction or for applying analysis methods such as classification. Better processing and interpretation can be achieved by identifying discriminating wavenumbers. The selection of wavenumbers has been addressed through several variable- or feature-selection methods. Some of them have not been adapted for use in large data sets or are difficult to tune, and others require additional information, such as concentrations. This paper proposes a new approach by combining a naïve Bayesian classifier with a genetic algorithm to identify discriminating spectral wavenumbers. The genetic algorithm uses a linear combination of an a posteriori probability and the Bayes error rate as the fitness function for optimization. Such a function allows the improvement of both the compactness and the separation of classes. This approach was tested to classify a small set of maize roots in soil according to their biodegradation process based on their MIR spectra. The results show that this optimization method allows better discrimination of the biodegradation process, compared with using the information of the entire MIR spectrum, the use of the spectral information at wavenumbers selected by a genetic algorithm based on a classical validity index or the use of the spectral information selected by combining a genetic algorithm with other methods, such as Linear Discriminant Analysis. The proposed method selects wavenumbers that correspond to principal vibrations of chemical functional groups of compounds that undergo degradation

  14. Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

    Science.gov (United States)

    Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F

    2001-10-01

    Cancer cell lines are essential gene discovery tools and have often served as models in genetic and functional studies of particular tumor types. One of the future challenges is comparison and interpretation of gene expression data with the available knowledge on the genomic abnormalities in these cell lines. In this context, accurate description of these genomic abnormalities is required. Here, we show that a combination of M-FISH with banding analysis, standard FISH, and CGH allowed a detailed description of the genetic alterations in 16 neuroblastoma cell lines. In total, 14 cryptic chromosome rearrangements were detected, including a balanced t(2;4)(p24.3;q34.3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN. The chromosomal origin of 22 marker chromosomes and 41 cytogenetically undefined translocated segments was determined. Chromosome arm 2 short arm translocations were observed in six cell lines (38%) with and five (31%) without MYCN amplification, leading to partial chromosome arm 2p gain in all but one cell line and loss of material in the various partner chromosomes, including 1p and 11q. These 2p gains were often masked in the GGH profiles due to MYCN amplification. The commonly overrepresented region was chromosome segment 2pter-2p22, which contains the MYCN gene, and five out of eleven 2p breakpoints clustered to the interface of chromosome bands 2p16 and 2p21. In neuroblastoma cell line SJNB-12, with double minutes (dmins) but no MYCN amplification, the dmins were shown to be derived from 16q22-q23 sequences. The ATBF1 gene, an AT-binding transcription factor involved in normal neurogenesis and located at 16q22.2, was shown to be present in the amplicon. This is the first report describing the possible implication of ATBF1 in neuroblastoma cells. We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the

  15. Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.

    Science.gov (United States)

    Mangupli, Ruth; Rostomyan, Liliya; Castermans, Emilie; Caberg, Jean-Hubert; Camperos, Paul; Krivoy, Jaime; Cuauro, Elvia; Bours, Vincent; Daly, Adrian F; Beckers, Albert

    2016-10-01

    Pituitary gigantism is a rare condition caused by growth hormone secreting hypersecretion, usually by a pituitary tumor. Acromegaly and gigantism cases that have a genetic cause are challenging to treat, due to large tumor size and poor responses to some medical therapies (e.g. AIP mutation affected cases and those with X-linked acrogigantism syndrome). We performed a retrospective study to identify gigantism cases among 160 somatotropinoma patients treated between 1985 and 2015 at the University Hospital of Caracas, Venezuela. We studied clinical details at diagnosis, hormonal responses to therapy and undertook targeted genetic testing. Among the 160 cases, eight patients (six males; 75 %) were diagnosed with pituitary gigantism and underwent genetic analysis that included array comparative genome hybridization for Xq26.3 duplications. All patients had GH secreting pituitary macroadenomas that were difficult to control with conventional treatment options, such as surgery or primary somatostatin receptor ligand (SRL) therapy. Combined therapy (long-acting SRL and pegvisomant) as primary treatment or after pituitary surgery and radiotherapy permitted the normalization of IGF-1 levels and clinical improvement. Novel AIP mutations were the found in three patients. None of the patients had Xq26.3 microduplications. Treatment of pituitary gigantism is frequently challenging; delayed control increases the harmful effects of GH excess, such as, excessive stature and symptom burden, so early diagnosis and effective treatment are particularly important in these cases.

  16. Main Findings: Lessons to be Learnt

    International Nuclear Information System (INIS)

    2010-01-01

    This section summarizes the main lessons to be learnt from the workshop: 1 - Workshop Methodology: This method of work has proven to be successful. Participants appreciated the high level of interaction with the other colleagues, especially in view of the variety of expertise that was represented at the workshop. The method also affords the participants the opportunity to learn about the status of waste management in the host country, and to come into contact with the main actors. Conversely, the method also affords the host country programme added visibility at the international level. 2 - National Regulations and International Guidance and Bases for Criteria and Regulatory Judgement: There is reasonable consensus amongst national regulations on fundamental regulatory objectives, but much less agreement on the most appropriate criteria. Consensus is nationally and internationally hampered by the lack of common definition of concepts and terms. International guidance is interpreted in different ways in each country. International guidance is rather difficult to interpret, understand and apply. It is important that stakeholders understand the bases for regulatory judgements. 3 - Optimisation: The fundamental goals of optimisation need to be clarified. Optimisation of long-term vs. short-term safety remains problematic. The process of performing optimisation is more important than the numerical or scientific result. A transparent, stepwise and iterative process of decision making is essential for optimisation. The basic, broad rules for decision making and involvement of stakeholders need to be defined in advance. 4 - Technical Indicators for Safe Performance: The relative importance of different safety indicators varies with timescale. There is still much to be done before reaching consensus on the relative importance of different time frames. More discussion is needed on time cut-offs for regulatory compliance. More discussion on the meaning and applicability of

  17. Landscape resistance and habitat combine to provide an optimal model of genetic structure and connectivity at the range margin of a small mammal.

    Science.gov (United States)

    Marrotte, R R; Gonzalez, A; Millien, V

    2014-08-01

    We evaluated the effect of habitat and landscape characteristics on the population genetic structure of the white-footed mouse. We develop a new approach that uses numerical optimization to define a model that combines site differences and landscape resistance to explain the genetic differentiation between mouse populations inhabiting forest patches in southern Québec. We used ecological distance computed from resistance surfaces with Circuitscape to infer the effect of the landscape matrix on gene flow. We calculated site differences using a site index of habitat characteristics. A model that combined site differences and resistance distances explained a high proportion of the variance in genetic differentiation and outperformed models that used geographical distance alone. Urban and agriculture-related land uses were, respectively, the most and the least resistant landscape features influencing gene flow. Our method detected the effect of rivers and highways as highly resistant linear barriers. The density of grass and shrubs on the ground best explained the variation in the site index of habitat characteristics. Our model indicates that movement of white-footed mouse in this region is constrained along routes of low resistance. Our approach can generate models that may improve predictions of future northward range expansion of this small mammal. © 2014 John Wiley & Sons Ltd.

  18. Genetic effects of combined chemical-X-ray treatments in male mouse germ cells

    International Nuclear Information System (INIS)

    Cattanach, B.M.; Rasberry, C.

    1987-01-01

    Several studies have shown that the yield of genetic damage induced by radiation in male mouse germ cells can be modified by chemical treatments. Pre-treatments with radio-protecting agents have given contradictory results but this appears to be largely attributable to the different germ cell stages tested and dependent upon the level of radiation damage induced. Pre-treatments which enhance the yield of genetic damage have been reported although, as yet, no tests have been conducted with radio-sensitizers. Another form of interaction between chemicals and radiation is specifically found with spermatogonial stem cells. Chemicals that kill cells can, by population depletion, substantially and predictably modify the genetic response to subsequent radiation exposure over a period of several days, or even weeks. Enhancement and reduction in the genetic yield can be attained, dependent upon the interval between treatments, with the modification also varying with the type of genetic damage scored. Post-treatment with one chemical (TEM) has been shown to reduce the genetic response to radiation exposure. (author)

  19. A combination of genetic algorithm and particle swarm optimization method for solving traveling salesman problem

    Directory of Open Access Journals (Sweden)

    Keivan Borna

    2015-12-01

    Full Text Available Traveling salesman problem (TSP is a well-established NP-complete problem and many evolutionary techniques like particle swarm optimization (PSO are used to optimize existing solutions for that. PSO is a method inspired by the social behavior of birds. In PSO, each member will change its position in the search space, according to personal or social experience of the whole society. In this paper, we combine the principles of PSO and crossover operator of genetic algorithm to propose a heuristic algorithm for solving the TSP more efficiently. Finally, some experimental results on our algorithm are applied in some instances in TSPLIB to demonstrate the effectiveness of our methods which also show that our algorithm can achieve better results than other approaches.

  20. Chemical Genetics — A Versatile Method to Combine Science and Higher Level Teaching in Molecular Genetics

    Directory of Open Access Journals (Sweden)

    Björn Sandrock

    2012-10-01

    Full Text Available Phosphorylation is a key event in many cellular processes like cell cycle, transformation of environmental signals to transcriptional activation or polar growth. The chemical genetics approach can be used to analyse the effect of highly specific inhibition in vivo and is a promising method to screen for kinase targets. We have used this approach to study the role of the germinal centre kinase Don3 during the cell division in the phytopathogenic fungus Ustilago maydis. Due to the easy determination of the don3 phenotype we have chosen this approach for a genetic course for M.Sc. students and for IMPRS (International Max-Planck research school students. According to the principle of “problem-based learning” the aim of this two-week course is to transfer knowledge about the broad spectrum of kinases to the students and that the students acquire the ability to design their own analog-sensitive kinase of interest. In addition to these training goals, we benefit from these annual courses the synthesis of basic constructs for genetic modification of several kinases in our model system U. maydis.

  1. Evolution of Genetic Variance during Adaptive Radiation.

    Science.gov (United States)

    Walter, Greg M; Aguirre, J David; Blows, Mark W; Ortiz-Barrientos, Daniel

    2018-04-01

    Genetic correlations between traits can concentrate genetic variance into fewer phenotypic dimensions that can bias evolutionary trajectories along the axis of greatest genetic variance and away from optimal phenotypes, constraining the rate of evolution. If genetic correlations limit adaptation, rapid adaptive divergence between multiple contrasting environments may be difficult. However, if natural selection increases the frequency of rare alleles after colonization of new environments, an increase in genetic variance in the direction of selection can accelerate adaptive divergence. Here, we explored adaptive divergence of an Australian native wildflower by examining the alignment between divergence in phenotype mean and divergence in genetic variance among four contrasting ecotypes. We found divergence in mean multivariate phenotype along two major axes represented by different combinations of plant architecture and leaf traits. Ecotypes also showed divergence in the level of genetic variance in individual traits and the multivariate distribution of genetic variance among traits. Divergence in multivariate phenotypic mean aligned with divergence in genetic variance, with much of the divergence in phenotype among ecotypes associated with changes in trait combinations containing substantial levels of genetic variance. Overall, our results suggest that natural selection can alter the distribution of genetic variance underlying phenotypic traits, increasing the amount of genetic variance in the direction of natural selection and potentially facilitating rapid adaptive divergence during an adaptive radiation.

  2. The history of mast cell and basophil research - some lessons learnt from the last century.

    Science.gov (United States)

    Blank, U; Falcone, F H; Nilsson, G

    2013-09-01

    This year (2013) marks the 50th anniversary of death of Otto Carl Willy Prausnitz (1876-1963) and Heinz Küstner (1897-1963). The two physicians, when working at the Hygiene Institute at the University of Breslau, Germany (Prausnitz was the Head of the Institute), described in 1921 what is still called today the Prausnitz-Küstner or PK reaction showing that allergy could be transferred from the allergic person by transferring serum to a healthy person. Their discovery ended the belief that an anaphylactic/allergic reaction was caused by poisons, but to the contrary showed that the presence of the hypersensitivity factor could be transferred to other people. We know now that this factor is immunoglobulin E (IgE), sensitizing mast cells and basophils to respond to an allergic stimulus. We take this occasion to retrace some of the important discoveries and lessons learnt from the last century relating to the function of these two cell types as effectors of the IgE system and the mediators they produce. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Genetic Parameters and Combining Ability Effects of Parents for Seed Yield and other Quantitative Traits in Black Gram [Vigna mungo (L. Hepper

    Directory of Open Access Journals (Sweden)

    Supriyo CHAKRABORTY

    2010-06-01

    Full Text Available Line x tester analysis was carried out in black gram [Vigna mungo (L. Hepper], an edible legume, to estimate the gca (general combining ability effects of parents (3 lines and 3 testers and the SCA (specific combining ability effects of 9 crosses for seed yield and other eleven quantitative traits. Though additive and nonadditive gene actions governed the expression of quantitative traits, the magnitude of nonadditive gene action was higher than that of additive gene action for each quantitative trait. Two parents viz. UG157 and DPU915 were good general combiners. Two crosses namely PDB 88-31/DPU 915 and PLU 277/KAU7 had high per se performance along with positive significant SCA effect for seed yield/plant. The degree of dominance revealed overdominance for all the traits except clusters/plant with partial dominance. The predictability ratio also revealed the predominant role of nonadditive gene action in the genetic control of quantitative traits. Narrow sense heritability was also low for each trait. Recurrent selection or biparental mating followed by selection which can exploit both additive and nonadditive gene actions would be of interest for yield improvement in black gram. Due to presence of high magnitude of nonadditive gene action, heterosis breeding could also be attempted to develop low cost hybrid variety using genetic male sterility system in black gram.

  4. The effects of hospital reforms on the management of public hospitals in Tanzania: Challenges and lessons learnt.

    Science.gov (United States)

    Shwekerela, Byera

    2014-01-01

    Although hospital reforms are being advocated internationally as part of a solution to hospital management problems in developing countries, studies have shown that they do give rise to some challenges. A study was undertaken that used in-depth interviews, focus group discussion and document review to examine hospital reforms. The article examines the effects of reforms on the management of Level II public hospitals in Tanzania and documents the related challenges and lessons Learnt. It is shown that hospital reforms have mixed effects in resource-strained hospitals, and that hospital reform actions may have replaced the bureaucratic inefficiencies associated with hospitals being managed from the central level (MoHSW) with the equally bureaucratic inefficiencies that characterize the management of these hospitals from a supposedly local level, the office of the Regional Administrative Secretary (RAS). Managing hospitals from this level seems to cause many hospital management problems to be left unattended.

  5. Recruiting Dementia Caregivers Into Clinical Trials: Lessons Learnt From the Australian TRANSCENDENT Trial.

    Science.gov (United States)

    Leach, Matthew J; Ziaian, Tahereh; Francis, Andrew; Agnew, Tamara

    2016-01-01

    The burden on those caring for a person with dementia is substantial. Although quality research assists in addressing the needs of these caregivers, recruiting caregivers into clinical studies is often problematic. This investigation explores the difficulties and successes in recruiting dementia caregivers into community-based clinical research by reporting the findings of a mixed-method substudy of a multicenter randomized controlled trial involving 40 community-dwelling dementia caregivers living in Adelaide, South Australia. Data for the substudy were derived from standardized trial monitoring documentation and structured telephone interviews. From a total of 16 distinct methods used across a 12-month recruitment campaign, the most cost-effective strategy was the distribution of flyers through a single study site. This approach generated the greatest number of enrollments of all methods used, achieving a 67% recruitment yield. The least cost-effective strategy, with a 0% recruitment yield, was the publication of a newspaper advertisement. Themes that emerged from the interviews pointed toward 5 key facilitators and 3 barriers to future trial recruitment. This study has generated new insights into the effective recruitment of dementia caregivers into clinical trials. We anticipate that these lessons learnt will assist in shaping the recruitment strategies of future studies of dementia caregivers.

  6. Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score

    Directory of Open Access Journals (Sweden)

    Weigl K

    2018-01-01

    joint consideration provided more accurate risk stratification than risk stratification based on each of the variables individually. For example, risk was 6.1-fold increased in the presence of both FH in a FDR and a GRS in the highest decile (aOR 6.14, 95% CI 3.47–10.84 compared to persons without FH and a GRS in the lowest decile.Conclusion: Both FH and the so far identified genetic variants carry essentially independent risk information and in combination provide great potential for CRC risk stratification. Keywords: colorectal neoplasms, familial risk, common genetic variants, single-nucleotide polymorphisms

  7. Estimating parametric phenotypes that determine anthesis date in Zea mays: Challenges in combining ecophysiological models with genetics

    Science.gov (United States)

    Welch, Stephen M.; White, Jeffrey W.; Thorp, Kelly R.; Bello, Nora M.

    2018-01-01

    Ecophysiological crop models encode intra-species behaviors using parameters that are presumed to summarize genotypic properties of individual lines or cultivars. These genotype-specific parameters (GSP’s) can be interpreted as quantitative traits that can be mapped or otherwise analyzed, as are more conventional traits. The goal of this study was to investigate the estimation of parameters controlling maize anthesis date with the CERES-Maize model, based on 5,266 maize lines from 11 plantings at locations across the eastern United States. High performance computing was used to develop a database of 356 million simulated anthesis dates in response to four CERES-Maize model parameters. Although the resulting estimates showed high predictive value (R2 = 0.94), three issues presented serious challenges for use of GSP’s as traits. First (expressivity), the model was unable to express the observed data for 168 to 3,339 lines (depending on the combination of site-years), many of which ended up sharing the same parameter value irrespective of genetics. Second, for 2,254 lines, the model reproduced the data, but multiple parameter sets were equally effective (equifinality). Third, parameter values were highly dependent (p<10−6919) on the sets of environments used to estimate them (instability), calling in to question the assumption that they represent fundamental genetic traits. The issues of expressivity, equifinality and instability must be addressed before the genetic mapping of GSP’s becomes a robust means to help solve the genotype-to-phenotype problem in crops. PMID:29672629

  8. QTL mapping for combining ability in different population-based ...

    Indian Academy of Sciences (India)

    2013-12-13

    Dec 13, 2013 ... ability and for geneticists to research the genetic basis of combining ability. [Li L., Sun C., ... population-based NCII designs by a simulation study. J. Genet. ... combining ability could also be applied to other population- based NCII ... was to estimate how different base populations, sample sizes, heritability ...

  9. Lessons learnt from a three-year pilot field epidemiology training programme

    Directory of Open Access Journals (Sweden)

    Damian Hoy

    2017-09-01

    Full Text Available Problem: The Pacific region has widely dispersed populations, limited financial and human resources and a high burden of disease. There is an urgent need to improve the availability, reliability and timeliness of useable health data. Context: The purpose of this paper is to share lessons learnt from a three-year pilot field epidemiology training programme that was designed to respond to these Pacific health challenges. The pilot programme built on and further developed an existing field epidemiology training programme for Pacific health staff. Action: The programme was delivered in country by epidemiologists working for Pacific Public Health Surveillance Network partners. The programme consisted of five courses: four one-week classroom-based courses and one field epidemiology project. Sessions were structured so that theoretical understanding was achieved through interaction and reinforced through practical hands-on group activities, case studies and other interactive practical learning methods. Outcome: As of September 2016, 258 students had commenced the programme. Twenty-six course workshops were delivered and one cohort of students had completed the full five-course programme. The programme proved popular and gained a high level of student engagement. Discussion: Face-to-face delivery, a low student-to-facilitator ratio, substantial group work and practical exercises were identified as key factors that contributed to the students developing skills and confidence. Close engagement of leaders and the need to quickly evaluate and adapt the curriculum were important lessons, and the collaboration between external partners was considered important for promoting a harmonized approach to health needs in the Pacific.

  10. Lessons learnt from a three-year pilot field epidemiology training programme.

    Science.gov (United States)

    Hoy, Damian; Durand, A Mark; Hancock, Thane; Cash, Haley L; Hardie, Kate; Paterson, Beverley; Paulino, Yvette; White, Paul; Merritt, Tony; Fitzgibbons, Dawn; Gopalani, Sameer Vali; Flint, James; Edwin A Merilles, Onofre; Kashiwabara, Mina; Biaukula, Viema; Lepers, Christelle; Souares, Yvan; Nilles, Eric; Batikawai, Anaseini; Huseynova, Sevil; Patel, Mahomed; Saketa, Salanieta T; Durrheim, David; Henderson, Alden; Roth, Adam

    2017-01-01

    The Pacific region has widely dispersed populations, limited financial and human resources and a high burden of disease. There is an urgent need to improve the availability, reliability and timeliness of useable health data. The purpose of this paper is to share lessons learnt from a three-year pilot field epidemiology training programme that was designed to respond to these Pacific health challenges. The pilot programme built on and further developed an existing field epidemiology training programme for Pacific health staff. The programme was delivered in country by epidemiologists working for Pacific Public Health Surveillance Network partners. The programme consisted of five courses: four one-week classroom-based courses and one field epidemiology project. Sessions were structured so that theoretical understanding was achieved through interaction and reinforced through practical hands-on group activities, case studies and other interactive practical learning methods. As of September 2016, 258 students had commenced the programme. Twenty-six course workshops were delivered and one cohort of students had completed the full five-course programme. The programme proved popular and gained a high level of student engagement. Face-to-face delivery, a low student-to-facilitator ratio, substantial group work and practical exercises were identified as key factors that contributed to the students developing skills and confidence. Close engagement of leaders and the need to quickly evaluate and adapt the curriculum were important lessons, and the collaboration between external partners was considered important for promoting a harmonized approach to health needs in the Pacific.

  11. "Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests.

    Science.gov (United States)

    Green, Michael J; Botkin, Jeffrey R

    2003-04-01

    Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.

  12. Application of a hybrid method based on the combination of genetic algorithm and Hopfield neural network for burnable poison placement

    International Nuclear Information System (INIS)

    Khoshahval, F.; Fadaei, A.

    2012-01-01

    Highlights: ► The performance of GA, HNN and combination of them in BPP optimization in PWR core are adequate. ► It seems HNN + GA arrives to better final parameter value in comparison with the two other methods. ► The computation time for HNN + GA is higher than GA and HNN. Thus a trade-off is necessary. - Abstract: In the last decades genetic algorithm (GA) and Hopfield Neural Network (HNN) have attracted considerable attention for the solution of optimization problems. In this paper, a hybrid optimization method based on the combination of the GA and HNN is introduced and applied to the burnable poison placement (BPP) problem to increase the quality of the results. BPP in a nuclear reactor core is a combinatorial and complicated problem. Arrangement and the worth of the burnable poisons (BPs) has an impressive effect on the main control parameters of a nuclear reactor. Improper design and arrangement of the BPs can be dangerous with respect to the nuclear reactor safety. In this paper, increasing BP worth along with minimizing the radial power peaking are considered as objective functions. Three optimization algorithms, genetic algorithm, Hopfield neural network optimization and a hybrid optimization method, are applied to the BPP problem and their efficiencies are compared. The hybrid optimization method gives better result in finding a better BP arrangement.

  13. Functional analysis of neuronal microRNAs in Caenorhabditis elegans dauer formation by combinational genetics and Neuronal miRISC immunoprecipitation.

    Directory of Open Access Journals (Sweden)

    Minh T Than

    2013-06-01

    Full Text Available Identifying the physiological functions of microRNAs (miRNAs is often challenging because miRNAs commonly impact gene expression under specific physiological conditions through complex miRNA::mRNA interaction networks and in coordination with other means of gene regulation, such as transcriptional regulation and protein degradation. Such complexity creates difficulties in dissecting miRNA functions through traditional genetic methods using individual miRNA mutations. To investigate the physiological functions of miRNAs in neurons, we combined a genetic "enhancer" approach complemented by biochemical analysis of neuronal miRNA-induced silencing complexes (miRISCs in C. elegans. Total miRNA function can be compromised by mutating one of the two GW182 proteins (AIN-1, an important component of miRISC. We found that combining an ain-1 mutation with a mutation in unc-3, a neuronal transcription factor, resulted in an inappropriate entrance into the stress-induced, alternative larval stage known as dauer, indicating a role of miRNAs in preventing aberrant dauer formation. Analysis of this genetic interaction suggests that neuronal miRNAs perform such a role partly by regulating endogenous cyclic guanosine monophosphate (cGMP signaling, potentially influencing two other dauer-regulating pathways. Through tissue-specific immunoprecipitations of miRISC, we identified miRNAs and their likely target mRNAs within neuronal tissue. We verified the biological relevance of several of these miRNAs and found that many miRNAs likely regulate dauer formation through multiple dauer-related targets. Further analysis of target mRNAs suggests potential miRNA involvement in various neuronal processes, but the importance of these miRNA::mRNA interactions remains unclear. Finally, we found that neuronal genes may be more highly regulated by miRNAs than intestinal genes. Overall, our study identifies miRNAs and their targets, and a physiological function of these miRNAs in

  14. Genetic Parameters and Combining Ability Effects of Parents for Seed Yield and other Quantitative Traits in Black Gram [Vigna mungo (L. Hepper

    Directory of Open Access Journals (Sweden)

    Supriyo CHAKRABORTY

    2010-06-01

    Full Text Available Line x tester analysis was carried out in black gram [Vigna mungo (L. Hepper], an edible legume, to estimate the gca (general combining ability effects of parents (3 lines and 3 testers and the SCA (specific combining ability effects of 9 crosses for seed yield and other eleven quantitative traits. Though additive and nonadditive gene actions governed the expression of quantitative traits, the magnitude of nonadditive gene action was higher than that of additive gene action for each quantitative trait. Two parents viz. �UG157� and �DPU915� were good general combiners. Two crosses namely �PDB 88-31�/�DPU 915� and �PLU 277�/�KAU7� had high per se performance along with positive significant SCA effect for seed yield/plant. The degree of dominance revealed overdominance for all the traits except clusters/plant with partial dominance. The predictability ratio also revealed the predominant role of nonadditive gene action in the genetic control of quantitative traits. Narrow sense heritability was also low for each trait. Recurrent selection or biparental mating followed by selection which can exploit both additive and nonadditive gene actions would be of interest for yield improvement in black gram. Due to presence of high magnitude of nonadditive gene action, heterosis breeding could also be attempted to develop low cost hybrid variety using genetic male sterility system in black gram.

  15. Measuring the genetic influence on human life span: gene-environment interaction and sex-specific genetic effects

    DEFF Research Database (Denmark)

    Tan, Qihua; De Benedictis, G; Yashin, Annatoli

    2001-01-01

    New approaches are needed to explore the different ways in which genes affect the human life span. One needs to assess the genetic effects themselves, as well as gene–environment interactions and sex dependency. In this paper, we present a new model that combines both genotypic and demographicinf......New approaches are needed to explore the different ways in which genes affect the human life span. One needs to assess the genetic effects themselves, as well as gene–environment interactions and sex dependency. In this paper, we present a new model that combines both genotypic...

  16. Genetic diversity among farmer-preferred cassava landraces in ...

    African Journals Online (AJOL)

    Understanding of genetic diversity among a breeding population is an important requirement for crop improvement as it allows for the selection of diverse parental combinations and formation of heterotic pools for genetic gain. This study was carried out to determine genetic diversity within and among 51 farmer-preferred ...

  17. Combining high-throughput phenotyping and genome-wide association studies to reveal natural genetic variation in rice

    Science.gov (United States)

    Yang, Wanneng; Guo, Zilong; Huang, Chenglong; Duan, Lingfeng; Chen, Guoxing; Jiang, Ni; Fang, Wei; Feng, Hui; Xie, Weibo; Lian, Xingming; Wang, Gongwei; Luo, Qingming; Zhang, Qifa; Liu, Qian; Xiong, Lizhong

    2014-01-01

    Even as the study of plant genomics rapidly develops through the use of high-throughput sequencing techniques, traditional plant phenotyping lags far behind. Here we develop a high-throughput rice phenotyping facility (HRPF) to monitor 13 traditional agronomic traits and 2 newly defined traits during the rice growth period. Using genome-wide association studies (GWAS) of the 15 traits, we identify 141 associated loci, 25 of which contain known genes such as the Green Revolution semi-dwarf gene, SD1. Based on a performance evaluation of the HRPF and GWAS results, we demonstrate that high-throughput phenotyping has the potential to replace traditional phenotyping techniques and can provide valuable gene identification information. The combination of the multifunctional phenotyping tools HRPF and GWAS provides deep insights into the genetic architecture of important traits. PMID:25295980

  18. Incidence of trampoline related pediatric fractures in a large district general hospital in the United Kingdom: lessons to be learnt.

    Science.gov (United States)

    Bhangal, K K; Neen, D; Dodds, R

    2006-04-01

    To test the observation that the incidence of trampoline related pediatric fractures is increasing-both nationally and in a large district general hospital. A retrospective analysis was undertaken of patient records establishing mechanism of injury of pediatric fractures over three consecutive summers from 2000-03. Theatre records of fractures treated operatively were used as the initial data source. A statistically significant increase in trampoline related injuries was discovered. This reflects the rising incidence of injuries from national data and furthermore corresponds to the growing popularity of domestic use trampolines in the UK. The incidence of injuries is increasing. There are lessons to be learnt from existing work from countries where trampoline prevalence has been greater for longer. The authors recommend various safety measures that may reduce children's injuries.

  19. VVER operational safety improvements: lessons learnt from European co-operation and future research needs

    International Nuclear Information System (INIS)

    Pazdera, F.; Vasa, I.; Zd'arek, J.

    2003-01-01

    The paper summarises involvement of Nuclear Research Institute Rez (NRI) in the areas which are directly related to Reactor Operational Safety and Plant Life Management, it also gives an idea how results of the research projects can be used to enhance safety of VVER reactors. These issues are for many years subject of a wide international co-operation effort, covered by such programmes as PHARE, OECD/NEA TACIS, 5th Framework Programme. Nuclear Research Institute participated in the majority of these programmes and projects, which allowed us to evaluate benefits (especially for VVER reactors) of the projects already finalised or running, as well as to formulate so-called 'future research needs', which possibly may be pursued within 6th Framework Programme. The paper highlights the main features of some projects our Institute was and is involved in, emphasising the most important results, expectations and future needs. It also very briefly, deals with some general and particular lessons learnt within these projects and their application to VVER reactors, especially as to their safety improvement. The paper also mentions VVER-focused projects and activities, co-ordinated by the OECD, which should enable to extend multilateral contacts already existing between organisations of the EU countries to include organisations from Russia, USA, Japan and possibly some other countries

  20. 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...

  1. Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D.

    2014-01-01

    cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

  2. Combining morphology and genetics in resolving taxonomy--a systematic revision of spined loaches (Genus Cobitis; Cypriniformes, Actinopterygii in the Adriatic watershed.

    Directory of Open Access Journals (Sweden)

    Ivana Buj

    Full Text Available Taxonomic investigation of spined loaches from Dalmatia and Herzegovina was conducted on specimens from 14 localities. The results of the detailed morphological investigations were combined with genetic data (based on one mitochondrial and two nuclear genes in order to resolve the taxonomic status of each Cobitis population. Among the investigated features of external morphology, the appearance of spots on the caudal fin base turned out to have the greatest diagnostic value. Furthermore, the number of branched fin rays enabled the discrimination of several species. No morphometric character alone could ensure determination of any Cobitis species. Nevertheless, groups of populations that are more similar in their body shapes correspond to mitochondrial phylogenetic lineages. Based on molecular genetic markers, Dalmatian and Herzegovinian spined loaches form independent lineages inside the Adriatic phylogenetic group. Mitochondrial DNA phylogenetic reconstruction revealed six monophyletic lineages, corresponding to six species distributed in the investigated area. The population distributed in Mostarsko blato karstic field in Bosnia and Herzegovina is described as a new species based on a unique combination of morphological characters: a single triangular Canestrini scale; usually 51/2 branched anal fin rays, 61/2 branched dorsal fin rays, 14 branched caudal fin rays; no spots in the surface pigmentation layer on the caudal fin base; scales on the body very small.

  3. A “genetics first” approach to selection

    Science.gov (United States)

    A different approach for using genomic information in genetic improvement is proposed. Past research in population genetics and animal breeding combined with information on sequence variants suggest the possibility that selection might be able to capture a portion of inbreeding and heterosis effect...

  4. Combining neural networks and genetic algorithms for hydrological flow forecasting

    Science.gov (United States)

    Neruda, Roman; Srejber, Jan; Neruda, Martin; Pascenko, Petr

    2010-05-01

    We present a neural network approach to rainfall-runoff modeling for small size river basins based on several time series of hourly measured data. Different neural networks are considered for short time runoff predictions (from one to six hours lead time) based on runoff and rainfall data observed in previous time steps. Correlation analysis shows that runoff data, short time rainfall history, and aggregated API values are the most significant data for the prediction. Neural models of multilayer perceptron and radial basis function networks with different numbers of units are used and compared with more traditional linear time series predictors. Out of possible 48 hours of relevant history of all the input variables, the most important ones are selected by means of input filters created by a genetic algorithm. The genetic algorithm works with population of binary encoded vectors defining input selection patterns. Standard genetic operators of two-point crossover, random bit-flipping mutation, and tournament selection were used. The evaluation of objective function of each individual consists of several rounds of building and testing a particular neural network model. The whole procedure is rather computational exacting (taking hours to days on a desktop PC), thus a high-performance mainframe computer has been used for our experiments. Results based on two years worth data from the Ploucnice river in Northern Bohemia suggest that main problems connected with this approach to modeling are ovetraining that can lead to poor generalization, and relatively small number of extreme events which makes it difficult for a model to predict the amplitude of the event. Thus, experiments with both absolute and relative runoff predictions were carried out. In general it can be concluded that the neural models show about 5 per cent improvement in terms of efficiency coefficient over liner models. Multilayer perceptrons with one hidden layer trained by back propagation algorithm and

  5. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    combined multivariate and collapsing method; myocardial infarction; exome sequencing ... disease caused by combination of genetic and environmental factors. ... more than 46 risk loci which are associated with coronary artery disease and ...

  6. Genetic programming theory and practice XII

    CERN Document Server

    Riolo, Rick; Kotanchek, Mark

    2015-01-01

    These contributions, written by the foremost international researchers and practitioners of Genetic Programming (GP), explore the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. Topics in this volume include: gene expression regulation, novel genetic models for glaucoma, inheritable epigenetics, combinators in genetic programming, sequential symbolic regression, system dynamics, sliding window symbolic regression, large feature problems, alignment in the error space, HUMIE winners, Boolean multiplexer funct

  7. Phenotypic H-Antigen Typing by Mass Spectrometry Combined with Genetic Typing of H Antigens, O Antigens, and Toxins by Whole-Genome Sequencing Enhances Identification of Escherichia coli Isolates.

    Science.gov (United States)

    Cheng, Keding; Chui, Huixia; Domish, Larissa; Sloan, Angela; Hernandez, Drexler; McCorrister, Stuart; Robinson, Alyssia; Walker, Matthew; Peterson, Lorea A M; Majcher, Miles; Ratnam, Sam; Haldane, David J M; Bekal, Sadjia; Wylie, John; Chui, Linda; Tyler, Shaun; Xu, Bianli; Reimer, Aleisha; Nadon, Celine; Knox, J David; Wang, Gehua

    2016-08-01

    Mass spectrometry-based phenotypic H-antigen typing (MS-H) combined with whole-genome-sequencing-based genetic identification of H antigens, O antigens, and toxins (WGS-HOT) was used to type 60 clinical Escherichia coli isolates, 43 of which were previously identified as nonmotile, H type undetermined, or O rough by serotyping or having shown discordant MS-H and serotyping results. Whole-genome sequencing confirmed that MS-H was able to provide more accurate data regarding H antigen expression than serotyping. Further, enhanced and more confident O antigen identification resulted from gene cluster based typing in combination with conventional typing based on the gene pair comprising wzx and wzy and that comprising wzm and wzt The O antigen was identified in 94.6% of the isolates when the two genetic O typing approaches (gene pair and gene cluster) were used in conjunction, in comparison to 78.6% when the gene pair database was used alone. In addition, 98.2% of the isolates showed the existence of genes for various toxins and/or virulence factors, among which verotoxins (Shiga toxin 1 and/or Shiga toxin 2) were 100% concordant with conventional PCR based testing results. With more applications of mass spectrometry and whole-genome sequencing in clinical microbiology laboratories, this combined phenotypic and genetic typing platform (MS-H plus WGS-HOT) should be ideal for pathogenic E. coli typing. Copyright © 2016 Cheng et al.

  8. Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrations.

    Directory of Open Access Journals (Sweden)

    João Ramalho-Carvalho

    Full Text Available MGMT downregulation in high-grade gliomas (HGG has been mostly attributed to aberrant promoter methylation and is associated with increased sensitivity to alkylating agent-based chemotherapy. However, HGG harboring 10q deletions also benefit from treatment with alkylating agents. Because the MGMT gene is mapped at 10q26, we hypothesized that both epigenetic and genetic alterations might affect its expression and predict response to chemotherapy. To test this hypothesis, promoter methylation and mRNA levels of MGMT were determined by quantitative methylation-specific PCR (qMSP or methylation-specific multiplex ligation dependent probe amplification (MS-MLPA and quantitative RT-PCR, respectively, in a retrospective series of 61 HGG. MGMT/chromosome 10 copy number variations were determined by FISH or MS-MLPA analysis. Molecular findings were correlated with clinical parameters to assess their predictive value. Overall, MGMT methylation ratios assessed by qMSP and MS-MLPA were inversely correlated with mRNA expression levels (best coefficient value obtained with MS-MLPA. By FISH analysis in 68.3% of the cases there was loss of 10q26.1 and in 15% of the cases polysomy was demonstrated; the latter displayed the highest levels of transcript. When genetic and epigenetic data were combined, cases with MGMT promoter methylation and MGMT loss depicted the lowest transcript levels, although an impact in response to alkylating agent chemotherapy was not apparent. Cooperation between epigenetic (promoter methylation and genetic (monosomy, locus deletion changes affecting MGMT in HGG is required for effective MGMT silencing. Hence, evaluation of copy number alterations might add relevant prognostic and predictive information concerning response to alkylating agent-based chemotherapy.

  9. Combining genetic and demographic data for the conservation of a Mediterranean marine habitat-forming species.

    Directory of Open Access Journals (Sweden)

    Rosana Arizmendi-Mejía

    Full Text Available The integration of ecological and evolutionary data is highly valuable for conservation planning. However, it has been rarely used in the marine realm, where the adequate design of marine protected areas (MPAs is urgently needed. Here, we examined the interacting processes underlying the patterns of genetic structure and demographic strucuture of a highly vulnerable Mediterranean habitat-forming species (i.e. Paramuricea clavata (Risso, 1826, with particular emphasis on the processes of contemporary dispersal, genetic drift, and colonization of a new population. Isolation by distance and genetic discontinuities were found, and three genetic clusters were detected; each submitted to variations in the relative impact of drift and gene flow. No founder effect was found in the new population. The interplay of ecology and evolution revealed that drift is strongly impacting the smallest, most isolated populations, where partial mortality of individuals was highest. Moreover, the eco-evolutionary analyses entailed important conservation implications for P. clavata. Our study supports the inclusion of habitat-forming organisms in the design of MPAs and highlights the need to account for genetic drift in the development of MPAs. Moreover, it reinforces the importance of integrating genetic and demographic data in marine conservation.

  10. Genetic doping and health damages.

    Science.gov (United States)

    Fallahi, Aa; Ravasi, Aa; Farhud, Dd

    2011-01-01

    Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in future and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA) defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance ". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes. This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., genetic doping, genes, exercise, performance, athletes) until July 2010. There are several genes related to sport performance and if they are used, they will have health risks and sever damages such as cancer, autoimmunization, and heart attack.

  11. Genetic and nutrition development of indigenous chicken in Africa

    DEFF Research Database (Denmark)

    Khobondo, J O; Muasya, T K; Miyumo, S

    2015-01-01

    This review gives insights into genetic and feeding regime development for indigenous chicken genetic resources. We highlight and combine confirming evidence of genetic diversity and variability using morphological and molecular techniques. We further discuss previous past and current genetic...... requirement for indigenous chicken and report nutritive contents of various local feedstuffs under various production systems. Various conservation strategies for sustainable utilization are hereby reviewed...

  12. Laboratory Course on "Streptomyces" Genetics and Secondary Metabolism

    Science.gov (United States)

    Siitonen, Vilja; Räty, Kaj; Metsä-Ketelä, Mikko

    2016-01-01

    The "'Streptomyces' genetics and secondary metabolism" laboratory course gives an introduction to the versatile soil dwelling Gram-positive bacteria "Streptomyces" and their secondary metabolism. The course combines genetic modification of "Streptomyces"; growing of the strain and protoplast preparation, plasmid…

  13. Combining bio-electrospraying with gene therapy: a novel biotechnique for the delivery of genetic material via living cells.

    Science.gov (United States)

    Ward, Eliot; Chan, Emma; Gustafsson, Kenth; Jayasinghe, Suwan N

    2010-05-01

    The investigations reported in this article demonstrate the ability of bio-electrosprays and cell electrospinning to deliver a genetic construct in association with living cells. Previous studies on both bio-electrosprays and cell electrospinning demonstrated great promise for tissue engineering and regenerative biology/medicine. The investigations described herein widen the applicability of these biotechniques by combining gene therapy protocols, resulting in a novel drug delivery methodology previously unexplored. In these studies a human cell line was transduced with recombinant self-inactivating lentiviral particles. These particles incorporated a green fluorescent protein fused to an endosomal targeting construct. This construct encodes a peptide, which can subsequently be detected on the surface of cells by specific T-cells. The transduced cell line was subsequently manipulated in association with either bio-electrospraying or cell electrospinning. Hence this demonstrates (i) the ability to safely handle genetically modified living cells and (ii) the ability to directly form pre-determined architectures bearing living therapeutic cells. This merged technology demonstrates a unique approach for directly forming living therapeutic architectures for controlled and targeted release of experimental cells/genes, as well as medical cell/gene therapeutics for a plethora of biological and medical applications. Hence, such developments could be applied to personalised medicine.

  14. Learning Intelligent Genetic Algorithms Using Japanese Nonograms

    Science.gov (United States)

    Tsai, Jinn-Tsong; Chou, Ping-Yi; Fang, Jia-Cen

    2012-01-01

    An intelligent genetic algorithm (IGA) is proposed to solve Japanese nonograms and is used as a method in a university course to learn evolutionary algorithms. The IGA combines the global exploration capabilities of a canonical genetic algorithm (CGA) with effective condensed encoding, improved fitness function, and modified crossover and…

  15. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  16. Reciprocal Genetics: Identifying QTL for General and Specific Combining Abilities in Hybrids Between Multiparental Populations from Two Maize (Zea mays L.) Heterotic Groups.

    Science.gov (United States)

    Giraud, Héloïse; Bauland, Cyril; Falque, Matthieu; Madur, Delphine; Combes, Valérie; Jamin, Philippe; Monteil, Cécile; Laborde, Jacques; Palaffre, Carine; Gaillard, Antoine; Blanchard, Philippe; Charcosset, Alain; Moreau, Laurence

    2017-11-01

    Several plant and animal species of agricultural importance are commercialized as hybrids to take advantage of the heterosis phenomenon. Understanding the genetic architecture of hybrid performances is therefore of key importance. We developed two multiparental maize ( Zea mays L.) populations, each corresponding to an important heterotic group (dent or flint) and comprised of six connected biparental segregating populations of inbred lines (802 and 822 lines for each group, respectively) issued from four founder lines. Instead of using "testers" to evaluate their hybrid values, segregating lines were crossed according to an incomplete factorial design to produce 951 dent-flint hybrids, evaluated for four biomass production traits in eight environments. QTL detection was carried out for the general-combining-ability (GCA) and specific-combining-ability (SCA) components of hybrid value, considering allelic effects transmitted from each founder line. In total, 42 QTL were detected across traits. We detected mostly QTL affecting GCA, 31% (41% for dry matter yield) of which also had mild effects on SCA. The small impact of dominant effects is consistent with the known differentiation between the dent and flint heterotic groups and the small percentage of hybrid variance due to SCA observed in our design (∼20% for the different traits). Furthermore, most (80%) of GCA QTL were segregating in only one of the two heterotic groups. Relative to tester-based designs, use of hybrids between two multiparental populations appears highly cost efficient to detect QTL in two heterotic groups simultaneously. This presents new prospects for selecting superior hybrid combinations with markers. Copyright © 2017 by the Genetics Society of America.

  17. F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort

    Science.gov (United States)

    Schwarz, John; Astermark, Jan; Menius, Erika D.; Carrington, Mary; Donfield, Sharyne M.; Gomperts, Edward D.; Nelson, George W.; Oldenburg, Johannes; Pavlova, Anna; Shapiro, Amy D.; Winkler, Cheryl A.; Berntorp, Erik

    2012-01-01

    Background Ancestral background, specifically African descent, confers higher risk for development of inhibitory antibodies to factor VIII (FVIII) in hemophilia A. It has been suggested that differences in the distribution of factor VIII gene (F8) haplotypes, and mismatch between endogenous F8 haplotypes and those comprising products used for treatment could contribute to risk. Design and Methods Data from the HIGS Combined Cohort were used to determine the association between F8 haplotype 3 (H3) vs. haplotypes 1 and 2 (H1+H2) and inhibitor risk among individuals of genetically-determined African descent. Other variables known to affect inhibitor risk including type of F8 mutation and HLA were included in the analysis. A second research question regarding risk related to mismatch in endogenous F8 haplotype and recombinant FVIII products used for treatment was addressed. Results H3 was associated with higher inhibitor risk among those genetically-identified (N=49) as of African ancestry, but the association did not remain significant after adjustment for F8 mutation type and the HLA variables. Among subjects of all racial ancestries enrolled in HIGS who reported early use of recombinant products (N=223), mismatch in endogenous haplotype and the FVIII proteins constituting the products used did not confer greater risk for inhibitor development. Conclusion H3 was not an independent predictor of inhibitor risk. Further, our findings did not support a higher risk of inhibitors in the presence of a haplotype mismatch between the FVIII molecule infused and that of the individual. PMID:22958194

  18. Identifying future research needs in landscape genetics: Where to from here?

    Science.gov (United States)

    Niko Balkenhol; Felix Gugerli; Sam A. Cushman; Lisette P. Waits; Aurelie Coulon; J. W. Arntzen; Rolf Holderegger; Helene H. Wagner

    2009-01-01

    Landscape genetics is an emerging interdisciplinary field that combines methods and concepts from population genetics, landscape ecology, and spatial statistics. The interest in landscape genetics is steadily increasing, and the field is evolving rapidly. We here outline four major challenges for future landscape genetic research that were identified during an...

  19. eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

    Directory of Open Access Journals (Sweden)

    Specht Günther

    2009-05-01

    Full Text Available Abstract Background High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems. Most epidemiological studies include subject-related personal information, which needs to be handled with care by following data privacy protection guidelines. In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects. Description We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT deriving from genetic epidemiological studies. eCOMPAGT securely stores and manages genotype and phenotype data and enables different user modes with different rights. Special attention was drawn on the import of data deriving from TaqMan and SNPlex genotyping assays. However, the database solution is adjustable to other genotyping systems by programming additional interfaces. Further important features are the scalability of the database and an export interface to statistical software. Conclusion eCOMPAGT can store, administer and connect phenotype data with all kinds of genotype data and is available as a downloadable version at http://dbis-informatik.uibk.ac.at/ecompagt.

  20. Cyanobacteria: photosynthetic factories combining biodiversity, radiation resistance, and genetics to facilitate drug discovery.

    Science.gov (United States)

    Cassier-Chauvat, Corinne; Dive, Vincent; Chauvat, Franck

    2017-02-01

    Cyanobacteria are ancient, abundant, and widely diverse photosynthetic prokaryotes, which are viewed as promising cell factories for the ecologically responsible production of chemicals. Natural cyanobacteria synthesize a vast array of biologically active (secondary) metabolites with great potential for human health, while a few genetic models can be engineered for the (low level) production of biofuels. Recently, genome sequencing and mining has revealed that natural cyanobacteria have the capacity to produce many more secondary metabolites than have been characterized. The corresponding panoply of enzymes (polyketide synthases and non-ribosomal peptide synthases) of interest for synthetic biology can still be increased through gene manipulations with the tools available for the few genetically manipulable strains. In this review, we propose to exploit the metabolic diversity and radiation resistance of cyanobacteria, and when required the genetics of model strains, for the production and radioactive ( 14 C) labeling of bioactive products, in order to facilitate the screening for new drugs.

  1. Enhancement of combined heat and power economic dispatch using self adaptive real-coded genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Subbaraj, P. [Kalasalingam University, Srivilliputhur, Tamilnadu 626 190 (India); Rengaraj, R. [Electrical and Electronics Engineering, S.S.N. College of Engineering, Old Mahabalipuram Road, Thirupporur (T.K), Kalavakkam, Kancheepuram (Dist.) 603 110, Tamilnadu (India); Salivahanan, S. [S.S.N. College of Engineering, Old Mahabalipuram Road, Thirupporur (T.K), Kalavakkam, Kancheepuram (Dist.) 603 110, Tamilnadu (India)

    2009-06-15

    In this paper, a self adaptive real-coded genetic algorithm (SARGA) is implemented to solve the combined heat and power economic dispatch (CHPED) problem. The self adaptation is achieved by means of tournament selection along with simulated binary crossover (SBX). The selection process has a powerful exploration capability by creating tournaments between two solutions. The better solution is chosen and placed in the mating pool leading to better convergence and reduced computational burden. The SARGA integrates penalty parameterless constraint handling strategy and simultaneously handles equality and inequality constraints. The population diversity is introduced by making use of distribution index in SBX operator to create a better offspring. This leads to a high diversity in population which can increase the probability towards the global optimum and prevent premature convergence. The SARGA is applied to solve CHPED problem with bounded feasible operating region which has large number of local minima. The numerical results demonstrate that the proposed method can find a solution towards the global optimum and compares favourably with other recent methods in terms of solution quality, handling constraints and computation time. (author)

  2. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?

    Science.gov (United States)

    Yapijakis, Christos; Pachis, Nikos; Natsis, Stavros; Voumvourakis, Costas

    2016-01-01

    Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The genes causing NF1 and NS are located on different chromosomes, making it uncertain whether NFNS is a separate entity as previously suggested, or rather a clinical variation. We present a four-membered Greek family. The father was diagnosed with familial NF1 and the mother with generalized epilepsy, being under hydantoin treatment since the age of 18 years. Their two male children exhibited NFNS characteristics. The father and his sons shared R1947X mutation in the NF1 gene. The two children with NFNS phenotype presented with NF1 signs inherited from their father and fetal hydantoin syndrome-like phenotype due to exposure to that anticonvulsant during fetal development. The NFNS phenotype may be the result of both a genetic factor (mutation in the NF1 gene) and an epigenetic/environmental factor (e.g. hydantoin). Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  3. Genetic relationships among Arachis species based on AFLP

    Directory of Open Access Journals (Sweden)

    Gimenes Marcos A.

    2002-01-01

    Full Text Available Amplified Fragment Length Polymorphism (AFLP was used to establish the genetic relationships among 20 species from seven of the nine sections of genus Arachis. The level of polymorphism among nine accessions of the cultivated peanut, A. hypogaea L., was also evaluated. Three combinations of primers were used to amplify the AFLPs. The fragments were separated in 6% denaturing acrylamide gels. A total of 408 fragments were analyzed. An average of 135.3 fragments per primer combination were scored, and the largest number of fragments was 169 using primer combination Eco RI - ACC / Mse I - CTG, while the lowest was 108, with Eco RI - ACT / Mse I - CTT. In general, the genetic relationships established using AFLPs agreed with the classification established using morphology and crossability data. The results indicated that AFLPs are good markers for establishing the relationships among Arachis species. The polymorphism detected in A. hypogaea by this method was higher than the one found with other markers, like RAPDs and RFLPs. However, our data suggest that the polymorphism detected be using AFLP with only three primer combinations is still too low to be used for any kind of genetic study in this species.

  4. Molecular and Genetic Determinants of Glioma Cell Invasion

    Directory of Open Access Journals (Sweden)

    Kenta Masui

    2017-12-01

    Full Text Available A diffusely invasive nature is a major obstacle in treating a malignant brain tumor, “diffuse glioma”, which prevents neurooncologists from surgically removing the tumor cells even in combination with chemotherapy and radiation. Recently updated classification of diffuse gliomas based on distinct genetic and epigenetic features has culminated in a multilayered diagnostic approach to combine histologic phenotypes and molecular genotypes in an integrated diagnosis. However, it is still a work in progress to decipher how the genetic aberrations contribute to the aggressive nature of gliomas including their highly invasive capacity. Here we depict a set of recent discoveries involving molecular genetic determinants of the infiltrating nature of glioma cells, especially focusing on genetic mutations in receptor tyrosine kinase pathways and metabolic reprogramming downstream of common cancer mutations. The specific biology of glioma cell invasion provides an opportunity to explore the genotype-phenotype correlation in cancer and develop novel glioma-specific therapeutic strategies for this devastating disease.

  5. Genetics Home Reference: combined oxidative phosphorylation deficiency 1

    Science.gov (United States)

    ... a severe condition that primarily impairs neurological and liver function. Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty ...

  6. Genetic interactions matter more in less-optimal environments: a focused review

    Directory of Open Access Journals (Sweden)

    Dustin A. Landers

    2014-08-01

    Full Text Available An increase in the distribution of data points indicates the presence of genetic or environmental modifiers. Mapping of the genetic control of the spread of points, the uniformity, allows us to allocate genetic difference in point distribution to adjacent, cis effects or to independently segregating, trans genetic effects. Our genetic architecture-mapping experiment elucidated the ‘environmental context specificity’ of modifiers, the number and effect size of positive and negative alleles important for uniformity in single and combined stress, and the extent of additivity in estimated allele effects in combined stress environments. We found no alleles for low uniformity in combined stress treatments in the maize mapping population we examined.The major advances in this research area since early 2011 have been in improved methods for modeling of distributions and means and detection of important loci. Double hierarchical general linear models and, more recently, a likelihood ratio formulation have been developed to better model and estimate the genetic and environmental effects in populations. These new methods have been applied to real data sets by the method authors and we now encourage additional development of the software and wider application of the methods. We also propose that simulations of genetic regulatory network models to examine differences in uniformity and systematic exploration of models using shared simulations across communities of researchers would be constructive avenues for developing further insight into the genetic mechanisms of variation control.

  7. First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

    Science.gov (United States)

    Rechitsky, Svetlana; Pakhalchuk, Tatiana; San Ramos, Geraldine; Goodman, Adam; Zlatopolsky, Zev; Kuliev, Anver

    2015-02-01

    To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample. Retrospective study. Preimplantation genetic diagnosis center. A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing. Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples. Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates. Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates. The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  8. Optimization of Combined Thermal and Electrical Behavior of Power Converters Using Multi-Objective Genetic Algorithms

    NARCIS (Netherlands)

    Malyna, D.V.; Duarte, J.L.; Hendrix, M.A.M.; Horck, van F.B.M.

    2007-01-01

    A practical example of power electronic converter synthesis is presented, where a multi-objective genetic algorithm, namely non-dominated sorting genetic algorithm (NSGA-II) is used. The optimization algorithm takes an experimentally-derived thermal model for the converter into account. Experimental

  9. Comparison of genetic detection efficiency of different markers ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-06-03

    Jun 3, 2009 ... Chinese native sheep populations, Hu sheep, Tong sheep, Small-tailed Han sheep and Tan sheep were used to study the efficiency of genetic markers. The genetic markers used in this study include morphological and ecological indices, blood protein enzyme, microsatellite DNA and the combination of.

  10. Genetic Variations and their Association with Diseases among ...

    African Journals Online (AJOL)

    genetics plays in disease, death and infections. The mode of study involved a combination of a retrospective study and the analysis of genetic variation among Kenyan ethnic populations using ABO blood group system. The results showed that there was association between allele frequencies of ABO system and disease ...

  11. How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis.

    Science.gov (United States)

    Deth, Richard; Muratore, Christina; Benzecry, Jorge; Power-Charnitsky, Verna-Ann; Waly, Mostafa

    2008-01-01

    Recently higher rates of autism diagnosis suggest involvement of environmental factors in causing this developmental disorder, in concert with genetic risk factors. Autistic children exhibit evidence of oxidative stress and impaired methylation, which may reflect effects of toxic exposure on sulfur metabolism. We review the metabolic relationship between oxidative stress and methylation, with particular emphasis on adaptive responses that limit activity of cobalamin and folate-dependent methionine synthase. Methionine synthase activity is required for dopamine-stimulated phospholipid methylation, a unique membrane-delimited signaling process mediated by the D4 dopamine receptor that promotes neuronal synchronization and attention, and synchrony is impaired in autism. Genetic polymorphisms adversely affecting sulfur metabolism, methylation, detoxification, dopamine signaling and the formation of neuronal networks occur more frequently in autistic subjects. On the basis of these observations, a "redox/methylation hypothesis of autism" is described, in which oxidative stress, initiated by environment factors in genetically vulnerable individuals, leads to impaired methylation and neurological deficits secondary to reductions in the capacity for synchronizing neural networks.

  12. Genetic effects from internally deposited radionuclides

    International Nuclear Information System (INIS)

    Anon.

    1987-01-01

    It was learned in the late 1920's that ionizing radiation could produce genetic effects such as gene mutations and chromosome aberrations. However, at least until 1945, the focus on interest in radiation protection was primarily on somatic effects manifested in the individual exposed. Studies of the genetic effects of radiation using drosophila, however, refocused attention on effects transmitted to the exposed individuals offspring and concern over fallout in the 1950's resulted in efforts to estimate the genetic effects from exposure of human populations to internally deposited radionuclides. No human populations have been identified with burdens of internally deposited radioactive materials which have been shown to produce evidence of transmissible genetic damage. As a result, the research approach has been one in which macromolecular, cellular, and whole animal genetic studies have been combined to estimate genetic effects on humans following the deposition of radioactive materials in the body. The purpose of this report is to update the information available from animal and cellular experiments that relates genetic effects to deposited activity and dose from internally deposited radioactive materials

  13. 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.

  14. Hybrid Modeling KMeans – Genetic Algorithms in the Health Care Data

    Directory of Open Access Journals (Sweden)

    Tessy Badriyah

    2013-06-01

    Full Text Available K-Means is one of the major algorithms widely used in clustering due to its good computational performance. However, K-Means is very sensitive to the initially selected points which randomly selected, and therefore it does not always generate optimum solutions. Genetic algorithm approach can be applied to solve this problem. In this research we examine the potential of applying hybrid GA- KMeans with focus on the area of health care data. We proposed a new technique using hybrid method combining KMeans Clustering and Genetic Algorithms, called the “Hybrid K-Means Genetic Algorithms” (HKGA. HKGA combines the power of Genetic Algorithms and the efficiency of K-Means Clustering. We compare our results with other conventional algorithms and also with other published research as well. Our results demonstrate that the HKGA achieves very good results and in some cases superior to other methods. Keywords: Machine Learning, K-Means, Genetic Algorithms, Hybrid KMeans Genetic Algorithm (HGKA.

  15. National planning guidelines for environment ally sustainable development in Scotland and lessons learnt for Pakistan

    International Nuclear Information System (INIS)

    Qamar-ul-Islam; Anjum, G.A.; Shahzad, M.

    2005-01-01

    This piece of research work reflects the researcher's academic as well as the practical experiences of Scottish planning about the concept, issues and policy formulations. It is in the context of National Planning Policy Guidelines, originated in Scotland with particular reference to it's Fife Region. The first part reflects the general overview of Scotland followed by brief description of the region. Another part deals with the existing strategic issues in the region which are related to land and the environment notably rural planning priorities, agricultural scarce land, conservation of recreational and tourist areas, forest land potentials, landscape resources, national scenic areas, petro-chemical, industrial zones, river pollution and future land use for housing. This study has suggested National Planning Policy Guidelines to these issues. Last section deals with the lessons learnt from Scotland and appropriate application of these guidelines in case of Pakistan. The establishment of the relevant National Planning Guidelines according to our local environmental and socio-economic conditions can also play a significant role to safe guard our rural and urban landscapes and their respective environments. These broad guidelines must therefore be recommended in the broader spectrum in spatial linkage. Moreover these guidelines must therefore synthesize and articulated specifically at structure plans, master plans at district, sub district or local plans and planning processes which can lead Pakistan towards environmentally sustainable development. (author)

  16. Combinations of SNPs Related to Signal Transduction in Bipolar Disorder

    DEFF Research Database (Denmark)

    Koefoed, Pernille; Andreassen, Ole A; Bennike, Bente

    2011-01-01

    of complex diseases, it may be useful to look at combinations of genotypes. Genes related to signal transmission, e.g., ion channel genes, may be of interest in this respect in the context of bipolar disorder. In the present study, we analysed 803 SNPs in 55 genes related to aspects of signal transmission...... and calculated all combinations of three genotypes from the 3×803 SNP genotypes for 1355 controls and 607 patients with bipolar disorder. Four clusters of patient-specific combinations were identified. Permutation tests indicated that some of these combinations might be related to bipolar disorder. The WTCCC...... in the clusters in the two datasets. The present analyses of the combinations of SNP genotypes support a role for both genetic heterogeneity and interactions in the genetic architecture of bipolar disorder....

  17. Fuzzy Information Retrieval Using Genetic Algorithms and Relevance Feedback.

    Science.gov (United States)

    Petry, Frederick E.; And Others

    1993-01-01

    Describes an approach that combines concepts from information retrieval, fuzzy set theory, and genetic programing to improve weighted Boolean query formulation via relevance feedback. Highlights include background on information retrieval systems; genetic algorithms; subproblem formulation; and preliminary results based on a testbed. (Contains 12…

  18. Molecular and pro-inflammatory genetic profile in gastric carcinomas

    NARCIS (Netherlands)

    Sitarz, R.

    2009-01-01

    Gastric cancer is a result from the combination of environmental factors and an accumulation of specific genetic alterations, and affects mainly the older population. It is known that genetic factors play a more important role in early onset gastric cancers than in conventional gastric cancer

  19. A method to associate all possible combinations of genetic and environmental factors using GxE landscape plot.

    Science.gov (United States)

    Nagaie, Satoshi; Ogishima, Soichi; Nakaya, Jun; Tanaka, Hiroshi

    2015-01-01

    Genome-wide association studies (GWAS) and linkage analysis has identified many single nucleotide polymorphisms (SNPs) related to disease. There are many unknown SNPs whose minor allele frequencies (MAFs) as low as 0.005 having intermediate effects with odds ratio between 1.5~3.0. Low frequency variants having intermediate effects on disease pathogenesis are believed to have complex interactions with environmental factors called gene-environment interactions (GxE). Hence, we describe a model using 3D Manhattan plot called GxE landscape plot to visualize the association of p-values for gene-environment interactions (GxE). We used the Gene-Environment iNteraction Simulator 2 (GENS2) program to simulate interactions between two genetic loci and one environmental factor in this exercise. The dataset used for training contains disease status, gender, 20 environmental exposures and 100 genotypes for 170 subjects, and p-values were calculated by Cochran-Mantel-Haenszel chi-squared test on known data. Subsequently, we created a 3D GxE landscape plot of negative logarithm of the association of p-values for all the possible combinations of genetic and environmental factors with their hierarchical clustering. Thus, the GxE landscape plot is a valuable model to predict association of p-values for GxE and similarity among genotypes and environments in the context of disease pathogenesis. GxE - Gene-environment interactions, GWAS - Genome-wide association study, MAFs - Minor allele frequencies, SNPs - Single nucleotide polymorphisms, EWAS - Environment-wide association study, FDR - False discovery rate, JPT+CHB - HapMap population of Japanese in Tokyo, Japan - Han Chinese in Beijing.

  20. Multiple genetic interaction experiments provide complementary information useful for gene function prediction.

    Directory of Open Access Journals (Sweden)

    Magali Michaut

    Full Text Available Genetic interactions help map biological processes and their functional relationships. A genetic interaction is defined as a deviation from the expected phenotype when combining multiple genetic mutations. In Saccharomyces cerevisiae, most genetic interactions are measured under a single phenotype - growth rate in standard laboratory conditions. Recently genetic interactions have been collected under different phenotypic readouts and experimental conditions. How different are these networks and what can we learn from their differences? We conducted a systematic analysis of quantitative genetic interaction networks in yeast performed under different experimental conditions. We find that networks obtained using different phenotypic readouts, in different conditions and from different laboratories overlap less than expected and provide significant unique information. To exploit this information, we develop a novel method to combine individual genetic interaction data sets and show that the resulting network improves gene function prediction performance, demonstrating that individual networks provide complementary information. Our results support the notion that using diverse phenotypic readouts and experimental conditions will substantially increase the amount of gene function information produced by genetic interaction screens.

  1. Temporal dynamics of genetic variability in a mountain goat (Oreamnos americanus) population.

    Science.gov (United States)

    Ortego, Joaquín; Yannic, Glenn; Shafer, Aaron B A; Mainguy, Julien; Festa-Bianchet, Marco; Coltman, David W; Côté, Steeve D

    2011-04-01

    The association between population dynamics and genetic variability is of fundamental importance for both evolutionary and conservation biology. We combined long-term population monitoring and molecular genetic data from 123 offspring and their parents at 28 microsatellite loci to investigate changes in genetic diversity over 14 cohorts in a small and relatively isolated population of mountain goats (Oreamnos americanus) during a period of demographic increase. Offspring heterozygosity decreased while parental genetic similarity and inbreeding coefficients (F(IS) ) increased over the study period (1995-2008). Immigrants introduced three novel alleles into the population and matings between residents and immigrants produced more heterozygous offspring than local crosses, suggesting that immigration can increase population genetic variability. The population experienced genetic drift over the study period, reflected by a reduced allelic richness over time and an 'isolation-by-time' pattern of genetic structure. The temporal decline of individual genetic diversity despite increasing population size probably resulted from a combination of genetic drift due to small effective population size, inbreeding and insufficient counterbalancing by immigration. This study highlights the importance of long-term genetic monitoring to understand how demographic processes influence temporal changes of genetic diversity in long-lived organisms. © 2011 Blackwell Publishing Ltd.

  2. The effects of stress and sex on selection, genetic covariance, and the evolutionary response.

    Science.gov (United States)

    Holman, L; Jacomb, F

    2017-10-01

    The capacity of a population to adapt to selection (evolvability) depends on whether the structure of genetic variation permits the evolution of fitter trait combinations. Selection, genetic variance and genetic covariance can change under environmental stress, and males and females are not genetically independent, yet the combined effects of stress and dioecy on evolvability are not well understood. Here, we estimate selection, genetic (co)variance and evolvability in both sexes of Tribolium castaneum flour beetles under stressful and benign conditions, using a half-sib breeding design. Although stress uncovered substantial latent heritability, stress also affected genetic covariance, such that evolvability remained low under stress. Sexual selection on males and natural selection on females favoured a similar phenotype, and there was positive intersex genetic covariance. Consequently, sexual selection on males augmented adaptation in females, and intralocus sexual conflict was weak or absent. This study highlights that increased heritability does not necessarily increase evolvability, suggests that selection can deplete genetic variance for multivariate trait combinations with strong effects on fitness, and tests the recent hypothesis that sexual conflict is weaker in stressful or novel environments. © 2017 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2017 European Society For Evolutionary Biology.

  3. Metabolomics of Genetically Modified Crops

    Science.gov (United States)

    Simó, Carolina; Ibáñez, Clara; Valdés, Alberto; Cifuentes, Alejandro; García-Cañas, Virginia

    2014-01-01

    Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs) making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not) the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade. PMID:25334064

  4. Metabolomics of Genetically Modified Crops

    Directory of Open Access Journals (Sweden)

    Carolina Simó

    2014-10-01

    Full Text Available Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade.

  5. Adaptive sensor fusion using genetic algorithms

    International Nuclear Information System (INIS)

    Fitzgerald, D.S.; Adams, D.G.

    1994-01-01

    Past attempts at sensor fusion have used some form of Boolean logic to combine the sensor information. As an alteniative, an adaptive ''fuzzy'' sensor fusion technique is described in this paper. This technique exploits the robust capabilities of fuzzy logic in the decision process as well as the optimization features of the genetic algorithm. This paper presents a brief background on fuzzy logic and genetic algorithms and how they are used in an online implementation of adaptive sensor fusion

  6. Generalizing genetical genomics: getting added value from environmental perturbation.

    Science.gov (United States)

    Li, Yang; Breitling, Rainer; Jansen, Ritsert C

    2008-10-01

    Genetical genomics is a useful approach for studying the effect of genetic perturbations on biological systems at the molecular level. However, molecular networks depend on the environmental conditions and, thus, a comprehensive understanding of biological systems requires studying them across multiple environments. We propose a generalization of genetical genomics, which combines genetic and sensibly chosen environmental perturbations, to study the plasticity of molecular networks. This strategy forms a crucial step toward understanding why individuals respond differently to drugs, toxins, pathogens, nutrients and other environmental influences. Here we outline a strategy for selecting and allocating individuals to particular treatments, and we discuss the promises and pitfalls of the generalized genetical genomics approach.

  7. The genetics of pigment dispersion syndrome and pigmentary glaucoma.

    Science.gov (United States)

    Lascaratos, Gerassimos; Shah, Ameet; Garway-Heath, David F

    2013-01-01

    We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  9. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

    Science.gov (United States)

    2010-01-01

    Background Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. Methods A subgroup of the ICARIA study comprising 1825 Spanish subjects (80% men, mean age 36 years) was genotyped for the LPL-HindIII (rs320), S447X (rs328), D9N (rs1801177) and N291S (rs268) polymorphisms, the APOA5-S19W (rs3135506) and -1131T/C (rs662799) variants, and the APOE polymorphism (rs429358; rs7412) using PCR and restriction analysis and TaqMan assays. We used regression analyses to examine their combined effects on TG levels (with the log-transformed variable) and the association of variant combinations with TG levels and hypertriglyceridemia (TG ≥ 1.69 mmol/L), including the covariates: gender, age, waist circumference, blood glucose, blood pressure, smoking and alcohol consumption. Results We found a significant lowering effect of the LPL-HindIII and S447X polymorphisms (p hypertriglyceridemia. PMID:20429872

  10. 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.

  11. Lessons learnt from human papillomavirus (HPV) vaccination in 45 low- and middle-income countries

    Science.gov (United States)

    Howard, Natasha; Kabakama, Severin; Mounier-Jack, Sandra; Griffiths, Ulla K.; Feletto, Marta; Burchett, Helen E. D.; LaMontagne, D. Scott; Watson-Jones, Deborah

    2017-01-01

    Objective To synthesise lessons learnt and determinants of success from human papillomavirus (HPV) vaccine demonstration projects and national programmes in low- and middle-income countries (LAMICs). Methods Interviews were conducted with 56 key informants. A systematic literature review identified 2936 abstracts from five databases; after screening 61 full texts were included. Unpublished literature, including evaluation reports, was solicited from country representatives; 188 documents were received. A data extraction tool and interview topic guide outlining key areas of inquiry were informed by World Health Organization guidelines for new vaccine introduction. Results were synthesised thematically. Results Data were analysed from 12 national programmes and 66 demonstration projects in 46 countries. Among demonstration projects, 30 were supported by the GARDASIL® Access Program, 20 by Gavi, four by PATH and 12 by other means. School-based vaccine delivery supplemented with health facility-based delivery for out-of-school girls attained high coverage. There were limited data on facility-only strategies and little evaluation of strategies to reach out-of-school girls. Early engagement of teachers as partners in social mobilisation, consent, vaccination day coordination, follow-up of non-completers and adverse events was considered invaluable. Micro-planning using school/ facility registers most effectively enumerated target populations; other estimates proved inaccurate, leading to vaccine under- or over-estimation. Refresher training on adverse events and safe injection procedures was usually necessary. Conclusion Considerable experience in HPV vaccine delivery in LAMICs is available. Lessons are generally consistent across countries and dissemination of these could improve HPV vaccine introduction. PMID:28575074

  12. Strategies for recruiting South Asian women to cancer screening research and the lessons learnt.

    Science.gov (United States)

    Chan, Dorothy N S; So, Winnie K W

    2016-11-01

    The aim of this study was to describe and discuss the recruitment strategies used in a research study of cervical cancer screening among South Asian women, the challenges encountered and the lessons learnt from the experience. Ethnic minority populations face different barriers to participating in research studies. Strategies have been developed to recruit this population to health-related research in Western countries, but there is little information about such research in the Asian region. Discussion paper. The discussion is based on our previous experience. The source of this experience is the recruitment strategies used, their results and the challenges encountered during the process. Culturally, relevant strategies and maintaining good relationships with stakeholders improved participant recruitment. Familiarity with South Asians' traditional calendar - when cultural and religious festivals are held every year - would aid the setting up of appropriate schedules for participant recruitment, either before or after the periods when they cannot be reached, such as Ramadan. South Asian women are often busy with childcare and housework. This is their major responsibility in the family and any failure to fulfil such duties is a source of stress and may foster feelings of guilt. A better understanding of their daily routines is therefore important. Such information enables the establishment of daily meeting schedules to increase the success rate of recruitment. Recruitment is a tedious process, but appropriate planning and taking account of cultural and religious practices and daily schedules will help to improve its rate of success. © 2016 John Wiley & Sons Ltd.

  13. Lay and peer counsellors to reduce leprosy-related stigma--lessons learnt in Cirebon, Indonesia.

    Science.gov (United States)

    Lusli, Mimi; Peters, Ruth M H; Zweekhorst, Marjolein B M; Van Brakel, Wim H; Seda, Francisia S S E; Bunders, Joske F G; Irwanto

    2015-03-01

    Counselling has been identified as a promising strategy to reduce stigma. Lay and peer counsellors have provided counselling in various fields, but this has not yet been studied in the field of leprosy. The Stigma Assessment and Reduction of Impact (SARI) project in Cirebon District, Indonesia took up this endeavour. This paper describes the initial experiences based on the perspectives of the lay and peer counsellors and aims to provide lessons learnt for future initiatives. The selection of lay and peer counsellors was based upon pre-defined criteria such as completed junior high school and level of confidence. This study draws on the notes of seven monitoring and evaluation meetings and 21 group discussions the main researcher facilitated with the lay and peer counsellors and the notes written by the lay and peer counsellors on the sessions with their clients. In total, 198 people affected by leprosy were offered counselling by the 11 lay and 12 peer counsellors; 145 accepted this offer. The other 53 either did not need counselling or did not want to participate for example due to worries about disclosure. Effective communication skills such as listening and asking effective questions were important, but also difficult to acquire for the lay and peer counsellors. Sharing personal experiences was highly appreciated by clients and stimulated a deepened reflection. Challenges related to concealment and effective skills exist, but some people affected by leprosy and others can become effective counsellors making it at the outset a challenging but nevertheless promising intervention.

  14. Advances in the genetically complex autoinflammatory diseases.

    Science.gov (United States)

    Ombrello, Michael J

    2015-07-01

    Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity. Interestingly, investigations of these genetically complex autoinflammatory diseases have implicated both innate and adaptive immune abnormalities, blurring the line between autoinflammation and autoimmunity. This reinforces the paradigm of concerted innate and adaptive immune dysfunction leading to genetically complex autoinflammatory phenotypes.

  15. Evaluating a hybrid web-based basic genetics course for health professionals.

    Science.gov (United States)

    Wallen, Gwenyth R; Cusack, Georgie; Parada, Suzan; Miller-Davis, Claiborne; Cartledge, Tannia; Yates, Jan

    2011-08-01

    Health professionals, particularly nurses, continue to struggle with the expanding role of genetics information in the care of their patients. This paper describes an evaluation study of the effectiveness of a hybrid basic genetics course for healthcare professionals combining web-based learning with traditional face-to-face instructional techniques. A multidisciplinary group from the National Institutes of Health (NIH) created "Basic Genetics Education for Healthcare Providers" (BGEHCP). This program combined 7 web-based self-education modules with monthly traditional face-to-face lectures by genetics experts. The course was pilot tested by 186 healthcare providers from various disciplines with 69% (n=129) of the class registrants enrolling in a pre-post evaluation trial. Outcome measures included critical thinking knowledge items and a Web-based Learning Environment Inventory (WEBLEI). Results indicated a significant (peffectiveness particularly in the area of convenience, access and the course structure and design. Although significant increases in overall knowledge scores were achieved, scores in content areas surrounding genetic risk identification and ethical issues regarding genetic testing reflected continued gaps in knowledge. Web-based genetics education may help overcome genetics knowledge deficits by providing access for health professionals with diverse schedules in a variety of national and international settings. Published by Elsevier Ltd.

  16. Conservation priorities for Ethiopian sheep breeds combining threat status, breed merits and contributions to genetic diversity

    NARCIS (Netherlands)

    Gizaw, S.; Komen, J.; Windig, J.J.; Hanotte, O.; Arendonk, van J.A.M.

    2008-01-01

    Prioritizing livestock breeds for conservation needs to incorporate both genetic and non-genetic aspects important for the survival of the breeds. Here, we apply a maximum-utility-strategy to prioritize 14 traditional Ethiopian sheep breeds based on their threat status, contributions to farmer

  17. Genetic features of circular bacteriocins produced by Gram-positive bacteria

    NARCIS (Netherlands)

    Maqueda, Mercedes; Sánchez-Hidalgo, Marina; Fernández, Matilde; Montalbán-López, Manuel; Valdivia, Eva; Martínez-Bueno, Manuel

    This review highlights the main genetic features of circular bacteriocins, which require the co-ordinated expression of several genetic determinants. In general terms, it has been demonstrated that the expression of such structural genes must be combined with the activity of proteins involved in

  18. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

  19. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  20. Sports genetics moving forward: lessons learned from medical research.

    Science.gov (United States)

    Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

    2016-03-01

    Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy. Copyright © 2016 the American Physiological Society.

  1. Developmental cognitive genetics: How psychology can inform genetics and vice versa

    Science.gov (United States)

    Bishop, Dorothy V. M.

    2006-01-01

    Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination. PMID:16769616

  2. Combined genetic and pharmacological inhibition of TRPV1 and P2X3 attenuates colorectal hypersensitivity and afferent sensitization

    Science.gov (United States)

    Kiyatkin, Michael E.; Feng, Bin; Schwartz, Erica S.

    2013-01-01

    The ligand-gated channels transient receptor potential vanilloid 1 (TRPV1) and P2X3 have been reported to facilitate colorectal afferent neuron sensitization, thus contributing to organ hypersensitivity and pain. In the present study, we hypothesized that TRPV1 and P2X3 cooperate to modulate colorectal nociception and afferent sensitivity. To test this hypothesis, we employed TRPV1-P2X3 double knockout (TPDKO) mice and channel-selective pharmacological antagonists and evaluated combined channel contributions to behavioral responses to colorectal distension (CRD) and afferent fiber responses to colorectal stretch. Baseline responses to CRD were unexpectedly greater in TPDKO compared with control mice, but zymosan-produced CRD hypersensitivity was absent in TPDKO mice. Relative to control mice, proportions of mechanosensitive and -insensitive pelvic nerve afferent classes were not different in TPDKO mice. Responses of mucosal and serosal class afferents to mechanical probing were unaffected, whereas responses of muscular (but not muscular/mucosal) afferents to stretch were significantly attenuated in TPDKO mice; sensitization of both muscular and muscular/mucosal afferents by inflammatory soup was also significantly attenuated. In pharmacological studies, the TRPV1 antagonist A889425 and P2X3 antagonist TNP-ATP, alone and in combination, applied onto stretch-sensitive afferent endings attenuated responses to stretch; combined antagonism produced greater attenuation. In the aggregate, these observations suggest that 1) genetic manipulation of TRPV1 and P2X3 leads to reduction in colorectal mechanosensation peripherally and compensatory changes and/or disinhibition of other channels centrally, 2) combined pharmacological antagonism produces more robust attenuation of mechanosensation peripherally than does antagonism of either channel alone, and 3) the relative importance of these channels appears to be enhanced in colorectal hypersensitivity. PMID:23989007

  3. A combined genetic and multi medium approach revels new secondary metabolites in Aspergillus nidulans

    DEFF Research Database (Denmark)

    Klejnstrup, Marie Louise; Nielsen, Morten Thrane; Frisvad, Jens Christian

    Secondary metabolites are a diverse group of metabolites which serve as important natural sources of drugs for treating diseases. The availability of full genome sequences of several filamentous fungi has revealed a large genetic potential for production of secondary metabolites that are not obse......Secondary metabolites are a diverse group of metabolites which serve as important natural sources of drugs for treating diseases. The availability of full genome sequences of several filamentous fungi has revealed a large genetic potential for production of secondary metabolites...... that are not observed under standard laboratory conditions. Genetic approaches have proven a fruitfull strategy towards the production and identification of these unknown metabolites. Examples include deletion of the cclA1 and laeA2 genes in A. nidulans which affects the expression of secondary metabolites including...... monodictyphenone and terrequinone A respectively. We have deleted the cclA gene in A. nidulans and grown the mutants on several complex media to provoke the production of secondary metabolites. This resulted in the production of several metabolites not previously reported from A. nidulans. Some of these have been...

  4. Genetic and environmental effects on mortality before age 70 years

    DEFF Research Database (Denmark)

    Petersen, L.; Andersen, Per Kragh; Sørensen, Thorkild I.A.

    2008-01-01

    There is a familial influence on risk of many diseases and on mortality in general, which, according to studies of twins, is due to a combination of genetic and environmental effects. Adoption studies, which rest on different assumptions, may also be used to estimate separately the genetic...

  5. A genetic ensemble approach for gene-gene interaction identification

    Directory of Open Access Journals (Sweden)

    Ho Joshua WK

    2010-10-01

    Full Text Available Abstract Background It has now become clear that gene-gene interactions and gene-environment interactions are ubiquitous and fundamental mechanisms for the development of complex diseases. Though a considerable effort has been put into developing statistical models and algorithmic strategies for identifying such interactions, the accurate identification of those genetic interactions has been proven to be very challenging. Methods In this paper, we propose a new approach for identifying such gene-gene and gene-environment interactions underlying complex diseases. This is a hybrid algorithm and it combines genetic algorithm (GA and an ensemble of classifiers (called genetic ensemble. Using this approach, the original problem of SNP interaction identification is converted into a data mining problem of combinatorial feature selection. By collecting various single nucleotide polymorphisms (SNP subsets as well as environmental factors generated in multiple GA runs, patterns of gene-gene and gene-environment interactions can be extracted using a simple combinatorial ranking method. Also considered in this study is the idea of combining identification results obtained from multiple algorithms. A novel formula based on pairwise double fault is designed to quantify the degree of complementarity. Conclusions Our simulation study demonstrates that the proposed genetic ensemble algorithm has comparable identification power to Multifactor Dimensionality Reduction (MDR and is slightly better than Polymorphism Interaction Analysis (PIA, which are the two most popular methods for gene-gene interaction identification. More importantly, the identification results generated by using our genetic ensemble algorithm are highly complementary to those obtained by PIA and MDR. Experimental results from our simulation studies and real world data application also confirm the effectiveness of the proposed genetic ensemble algorithm, as well as the potential benefits of

  6. A combination of compositional index and genetic algorithm for predicting transmembrane helical segments.

    Directory of Open Access Journals (Sweden)

    Nazar Zaki

    Full Text Available Transmembrane helix (TMH topology prediction is becoming a focal problem in bioinformatics because the structure of TM proteins is difficult to determine using experimental methods. Therefore, methods that can computationally predict the topology of helical membrane proteins are highly desirable. In this paper we introduce TMHindex, a method for detecting TMH segments using only the amino acid sequence information. Each amino acid in a protein sequence is represented by a Compositional Index, which is deduced from a combination of the difference in amino acid occurrences in TMH and non-TMH segments in training protein sequences and the amino acid composition information. Furthermore, a genetic algorithm was employed to find the optimal threshold value for the separation of TMH segments from non-TMH segments. The method successfully predicted 376 out of the 378 TMH segments in a dataset consisting of 70 test protein sequences. The sensitivity and specificity for classifying each amino acid in every protein sequence in the dataset was 0.901 and 0.865, respectively. To assess the generality of TMHindex, we also tested the approach on another standard 73-protein 3D helix dataset. TMHindex correctly predicted 91.8% of proteins based on TM segments. The level of the accuracy achieved using TMHindex in comparison to other recent approaches for predicting the topology of TM proteins is a strong argument in favor of our proposed method.The datasets, software together with supplementary materials are available at: http://faculty.uaeu.ac.ae/nzaki/TMHindex.htm.

  7. Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study

    NARCIS (Netherlands)

    L.C.G. de Graaff (Laura)

    2008-01-01

    textabstractHypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling and for possible prevention. This

  8. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Research Article Volume 92 Issue 3 December 2013 pp 529-543 ... combining ability; NCII design; QTL analysis; digenic; multiple alleles. ... and Quantitative Genetics, College of Agricultural Science, Yangzhou University, 225009 Yangzhou, ...

  9. Scaling laws and universality for the strength of genetic interactions in yeast

    Science.gov (United States)

    Velenich, Andrea; Dai, Mingjie; Gore, Jeff

    2012-02-01

    Genetic interactions provide a window to the organization of the thousands of biochemical reactions in living cells. If two mutations affect unrelated cellular functions, the fitness effects of their combination can be easily predicted from the two separate fitness effects. However, because of interactions, for some pairs of mutations their combined fitness effect deviates from the naive prediction. We study genetic interactions in yeast cells by analyzing a publicly available database containing experimental growth rates of 5 million double mutants. We show that the characteristic strength of genetic interactions has a simple power law dependence on the fitness effects of the two interacting mutations and that the probability distribution of genetic interactions is a universal function. We further argue that the strength of genetic interactions depends only on the fitness effects of the interacting mutations and not on their biological origin in terms of single point mutations, entire gene knockouts or even more complicated physiological perturbations. Finally, we discuss the implications of the power law scaling of genetic interactions on the ruggedness of fitness landscapes and the consequent evolutionary dynamics.

  10. Predicting High or Low Transfer Efficiency of Photovoltaic Systems Using a Novel Hybrid Methodology Combining Rough Set Theory, Data Envelopment Analysis and Genetic Programming

    Directory of Open Access Journals (Sweden)

    Lee-Ing Tong

    2012-02-01

    Full Text Available Solar energy has become an important energy source in recent years as it generates less pollution than other energies. A photovoltaic (PV system, which typically has many components, converts solar energy into electrical energy. With the development of advanced engineering technologies, the transfer efficiency of a PV system has been increased from low to high. The combination of components in a PV system influences its transfer efficiency. Therefore, when predicting the transfer efficiency of a PV system, one must consider the relationship among system components. This work accurately predicts whether transfer efficiency of a PV system is high or low using a novel hybrid model that combines rough set theory (RST, data envelopment analysis (DEA, and genetic programming (GP. Finally, real data-set are utilized to demonstrate the accuracy of the proposed method.

  11. Genetic genealogy comes of age: perspectives on the use of deep-rooted pedigrees in human population genetics.

    Science.gov (United States)

    Larmuseau, M H D; Van Geystelen, A; van Oven, M; Decorte, R

    2013-04-01

    In this article, we promote the implementation of extensive genealogical data in population genetic studies. Genealogical records can provide valuable information on the origin of DNA donors in a population genetic study, going beyond the commonly collected data such as residence, birthplace, language, and self-reported ethnicity. Recent studies demonstrated that extended genealogical data added to surname analysis can be crucial to detect signals of (past) population stratification and to interpret the population structure in a more objective manner. Moreover, when in-depth pedigree data are combined with haploid markers, it is even possible to disentangle signals of temporal differentiation within a population genetic structure during the last centuries. Obtaining genealogical data for all DNA donors in a population genetic study is a labor-intensive task but the vastly growing (genetic) genealogical databases, due to the broad interest of the public, are making this job more time-efficient if there is a guarantee for sufficient data quality. At the end, we discuss the advantages and pitfalls of using genealogy within sampling campaigns and we provide guidelines for future population genetic studies. Copyright © 2013 Wiley Periodicals, Inc.

  12. Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example

    Directory of Open Access Journals (Sweden)

    Benjamin A Goldstein

    2014-08-01

    Full Text Available Purpose: Genetic risk assessment is becoming an important component of clinical decision-making. Genetic Risk Scores (GRSs allow the composite assessment of genetic risk in complex traits. A technically and clinically pertinent question is how to most easily and effectively combine a GRS with an assessment of clinical risk derived from established non-genetic risk factors as well as to clearly present this information to patient and health care providers. Materials & Methods: We illustrate a means to combine a GRS with an independent assessment of clinical risk using a log-link function. We apply the method to the prediction of coronary heart disease (CHD in the Atherosclerosis Risk in Communities (ARIC cohort. We evaluate different constructions based on metrics of effect change, discrimination, and calibration.Results: The addition of a GRS to a clinical risk score (CRS improves both discrimination and calibration for CHD in ARIC. Results are similar regardless of whether external vs. internal coefficients are used for the CRS, risk factor SNPs are included in the GRS, or subjects with diabetes at baseline are excluded. We outline how to report the construction and the performance of a GRS using our method and illustrate a means to present genetic risk information to subjects and/or their health care provider. Conclusion: The proposed method facilitates the standardized incorporation of a GRS in risk assessment.

  13. Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

    Science.gov (United States)

    Sermon, Karen

    2017-01-01

    Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer. Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected. Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.

  14. Application of medical cases in general genetics teaching in universities.

    Science.gov (United States)

    He, Zhumei; Bie, Linsai; Li, Wei

    2018-01-20

    General genetics is a core course in life sciences, medicine, agriculture and other related fields. As one of the most fast-developing disciplines of life sciences in the 21th century, the influence of the genetics knowledge on daily life is expanding, especially on human health and reproduction. In order to make it easier for students to understand the profound principles of genetics and to better apply the theories to daily life, we have introduced appropriate medical cases in general genetics teaching and further extended them combined with theoretical basis of genetics. This approach will be beneficial to enhance students' abilities of genetic analysis and promote their enthusiasm to learn and master practical skills. In this paper, we enumerate medical cases related to the modern genetics teaching system to provide a reference for genetics teaching in general and normal universities.

  15. Genetic influences on political ideologies

    DEFF Research Database (Denmark)

    Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert

    2014-01-01

    Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60 % of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant...... paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine...... different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly...

  16. Developing children’s palliative care in Africa through beacon centres: lessons learnt

    Science.gov (United States)

    2013-01-01

    Much progress has been made in the provision of palliative care across sub-Saharan Africa, however much still remains to be done, particularly in the area of children’s palliative care (CPC). The Beacon Centres programme was set up in 2009, aimed at improving access to CPC in South Africa, Uganda and Tanzania through more and better-trained health professionals and CPC clinical services of a high standard. Having identified sites in each country to develop into CPC Beacon Centres, Navigators were identified who would be the ‘champions’ for CPC in those sites and lead a programme of training, mentorship and support. Five navigators (2 in Uganda and Tanzania and 1 in South Africa) were trained between September and December 2009. Following this they undertook CPC needs assessments at the 3 centres and set up and delivered a six-month CPC training programme, providing mentorship and support to students to enable them to integrate CPC into their workplaces. To date, 188 participants have commenced the six-month course, with 80 having completed it. CPC has been integrated into the activities of the centres and a CPC virtual resource centre set up in South Africa. The achievements from the Beacon project have been great and the work of the navigators immense, but as in all projects it has not been without its challenges. Lessons learnt include issues around: the focus of the project; the length and nature of the training; assessment; accreditation; the choice of navigators; mentoring; administrative support; co-ordination; the choice of project sites; and the integration of CPC into services. The need for CPC is not going to go away and it is therefore important that models of scaling-up are found that are not only practical, feasible, affordable and sustainable, but that focus on the outcome of improved CPC for all those who need it. It is hoped that the lessons shared from the Beacon Project will help in developing and implementing such models. PMID:23419095

  17. Selection on Optimal Haploid Value Increases Genetic Gain and Preserves More Genetic Diversity Relative to Genomic Selection.

    Science.gov (United States)

    Daetwyler, Hans D; Hayden, Matthew J; Spangenberg, German C; Hayes, Ben J

    2015-08-01

    Doubled haploids are routinely created and phenotypically selected in plant breeding programs to accelerate the breeding cycle. Genomic selection, which makes use of both phenotypes and genotypes, has been shown to further improve genetic gain through prediction of performance before or without phenotypic characterization of novel germplasm. Additional opportunities exist to combine genomic prediction methods with the creation of doubled haploids. Here we propose an extension to genomic selection, optimal haploid value (OHV) selection, which predicts the best doubled haploid that can be produced from a segregating plant. This method focuses selection on the haplotype and optimizes the breeding program toward its end goal of generating an elite fixed line. We rigorously tested OHV selection breeding programs, using computer simulation, and show that it results in up to 0.6 standard deviations more genetic gain than genomic selection. At the same time, OHV selection preserved a substantially greater amount of genetic diversity in the population than genomic selection, which is important to achieve long-term genetic gain in breeding populations. Copyright © 2015 by the Genetics Society of America.

  18. A Modified Generalized Fisher Method for Combining Probabilities from Dependent Tests

    Directory of Open Access Journals (Sweden)

    Hongying (Daisy eDai

    2014-02-01

    Full Text Available Rapid developments in molecular technology have yielded a large amount of high throughput genetic data to understand the mechanism for complex traits. The increase of genetic variants requires hundreds and thousands of statistical tests to be performed simultaneously in analysis, which poses a challenge to control the overall Type I error rate. Combining p-values from multiple hypothesis testing has shown promise for aggregating effects in high-dimensional genetic data analysis. Several p-value combining methods have been developed and applied to genetic data; see [Dai, et al. 2012b] for a comprehensive review. However, there is a lack of investigations conducted for dependent genetic data, especially for weighted p-value combining methods. Single nucleotide polymorphisms (SNPs are often correlated due to linkage disequilibrium. Other genetic data, including variants from next generation sequencing, gene expression levels measured by microarray, protein and DNA methylation data, etc. also contain complex correlation structures. Ignoring correlation structures among genetic variants may lead to severe inflation of Type I error rates for omnibus testing of p-values. In this work, we propose modifications to the Lancaster procedure by taking the correlation structure among p-values into account. The weight function in the Lancaster procedure allows meaningful biological information to be incorporated into the statistical analysis, which can increase the power of the statistical testing and/or remove the bias in the process. Extensive empirical assessments demonstrate that the modified Lancaster procedure largely reduces the Type I error rates due to correlation among p-values, and retains considerable power to detect signals among p-values. We applied our method to reassess published renal transplant data, and identified a novel association between B cell pathways and allograft tolerance.

  19. A genetic algorithm approach to recognition and data mining

    Energy Technology Data Exchange (ETDEWEB)

    Punch, W.F.; Goodman, E.D.; Min, Pei [Michigan State Univ., East Lansing, MI (United States)] [and others

    1996-12-31

    We review here our use of genetic algorithm (GA) and genetic programming (GP) techniques to perform {open_quotes}data mining,{close_quotes} the discovery of particular/important data within large datasets, by finding optimal data classifications using known examples. Our first experiments concentrated on the use of a K-nearest neighbor algorithm in combination with a GA. The GA selected weights for each feature so as to optimize knn classification based on a linear combination of features. This combined GA-knn approach was successfully applied to both generated and real-world data. We later extended this work by substituting a GP for the GA. The GP-knn could not only optimize data classification via linear combinations of features but also determine functional relationships among the features. This allowed for improved performance and new information on important relationships among features. We review the effectiveness of the overall approach on examples from biology and compare the effectiveness of the GA and GP.

  20. The genetic component of human longevity

    DEFF Research Database (Denmark)

    Dato, Serena; Thinggaard, Mette Sørensen; De Rango, Francesco

    2018-01-01

    In human longevity studies, single nucleotide polymorphism (SNP) analysis identified a large number of genetic variants with small effects, yet not easily replicable in different populations. New insights may come from the combined analysis of different SNPs, especially when grouped by metabolic ...

  1. An integrated map of genetic variation from 1.092 human genomes

    DEFF Research Database (Denmark)

    Abecasis, Goncalo R.; Auton, Adam; Brooks, Lisa D.

    2012-01-01

    By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination ...

  2. Advancing ecological understandings through technological transformations in noninvasive genetics.

    Science.gov (United States)

    Beja-Pereira, Albano; Oliveira, Rita; Alves, Paulo C; Schwartz, Michael K; Luikart, Gordon

    2009-09-01

    Noninvasive genetic approaches continue to improve studies in molecular ecology, conservation genetics and related disciplines such as forensics and epidemiology. Noninvasive sampling allows genetic studies without disturbing or even seeing the target individuals. Although noninvasive genetic sampling has been used for wildlife studies since the 1990s, technological advances continue to make noninvasive approaches among the most used and rapidly advancing areas in genetics. Here, we review recent advances in noninvasive genetics and how they allow us to address important research and management questions thanks to improved techniques for DNA extraction, preservation, amplification and data analysis. We show that many advances come from the fields of forensics, human health and domestic animal health science, and suggest that molecular ecologists explore literature from these fields. Finally, we discuss how the combination of advances in each step of a noninvasive genetics study, along with fruitful areas for future research, will continually increase the power and role of noninvasive genetics in molecular ecology and conservation genetics. © 2009 Blackwell Publishing Ltd.

  3. Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease

    DEFF Research Database (Denmark)

    Wittrup, Hans H; Andersen, Rolf V; Tybjaerg-Hansen, Anne

    2006-01-01

    Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD).......Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD)....

  4. Genetic algorithms for adaptive real-time control in space systems

    Science.gov (United States)

    Vanderzijp, J.; Choudry, A.

    1988-01-01

    Genetic Algorithms that are used for learning as one way to control the combinational explosion associated with the generation of new rules are discussed. The Genetic Algorithm approach tends to work best when it can be applied to a domain independent knowledge representation. Applications to real time control in space systems are discussed.

  5. Genome-wide association analysis reveals distinct genetic architectures for single and combined stress responses in Arabidopsis thaliana

    NARCIS (Netherlands)

    Davila Olivas, Nelson H.; Kruijer, Willem; Gort, Gerrit; Wijnen, Cris L.; Loon, van Joop J.A.; Dicke, Marcel

    2017-01-01

    Plants are commonly exposed to abiotic and biotic stresses. We used 350 Arabidopsis thaliana accessions grown under controlled conditions. We employed genome-wide association analysis to investigate the genetic architecture and underlying loci involved in genetic variation in resistance to: two

  6. Combined use of a new SNP-based assay and multilocus SSR markers to assess genetic diversity of Xylella fastidiosa subsp. pauca infecting citrus and coffee plants.

    Science.gov (United States)

    Montes-Borrego, Miguel; Lopes, Joao R S; Jiménez-Díaz, Rafael M; Landa, Blanca B

    2015-03-01

    Two haplotypes of Xylella fastidiosa subsp. pauca (Xfp) that correlated with their host of origin were identified in a collection of 90 isolates infecting citrus and coffee plants in Brazil, based on a single-nucleotide polymorphism in the gyrB sequence. A new single-nucleotide primer extension (SNuPE) protocol was designed for rapid identification of Xfp according to the host source. The protocol proved to be robust for the prediction of the Xfp host source in blind tests using DNA from cultures of the bacterium, infected plants, and insect vectors allowed to feed on Xfp-infected citrus plants. AMOVA and STRUCTURE analyses of microsatellite data separated most Xfp populations on the basis of their host source, indicating that they were genetically distinct. The combined use of the SNaPshot protocol and three previously developed multilocus SSR markers showed that two haplotypes and distinct isolates of Xfp infect citrus and coffee in Brazil and that multiple, genetically different isolates can be present in a single orchard or infect a single tree. This combined approach will be very useful in studies of the epidemiology of Xfp-induced diseases, host specificity of bacterial genotypes, the occurrence of Xfp host jumping, vector feeding habits, etc., in economically important cultivated plants or weed host reservoirs of Xfp in Brazil and elsewhere. Copyright© by the Spanish Society for Microbiology and Institute for Catalan Studies.

  7. Island-Model Genomic Selection for Long-Term Genetic Improvement of Autogamous Crops.

    Science.gov (United States)

    Yabe, Shiori; Yamasaki, Masanori; Ebana, Kaworu; Hayashi, Takeshi; Iwata, Hiroyoshi

    2016-01-01

    Acceleration of genetic improvement of autogamous crops such as wheat and rice is necessary to increase cereal production in response to the global food crisis. Population and pedigree methods of breeding, which are based on inbred line selection, are used commonly in the genetic improvement of autogamous crops. These methods, however, produce a few novel combinations of genes in a breeding population. Recurrent selection promotes recombination among genes and produces novel combinations of genes in a breeding population, but it requires inaccurate single-plant evaluation for selection. Genomic selection (GS), which can predict genetic potential of individuals based on their marker genotype, might have high reliability of single-plant evaluation and might be effective in recurrent selection. To evaluate the efficiency of recurrent selection with GS, we conducted simulations using real marker genotype data of rice cultivars. Additionally, we introduced the concept of an "island model" inspired by evolutionary algorithms that might be useful to maintain genetic variation through the breeding process. We conducted GS simulations using real marker genotype data of rice cultivars to evaluate the efficiency of recurrent selection and the island model in an autogamous species. Results demonstrated the importance of producing novel combinations of genes through recurrent selection. An initial population derived from admixture of multiple bi-parental crosses showed larger genetic gains than a population derived from a single bi-parental cross in whole cycles, suggesting the importance of genetic variation in an initial population. The island-model GS better maintained genetic improvement in later generations than the other GS methods, suggesting that the island-model GS can utilize genetic variation in breeding and can retain alleles with small effects in the breeding population. The island-model GS will become a new breeding method that enhances the potential of genomic

  8. Island-Model Genomic Selection for Long-Term Genetic Improvement of Autogamous Crops.

    Directory of Open Access Journals (Sweden)

    Shiori Yabe

    Full Text Available Acceleration of genetic improvement of autogamous crops such as wheat and rice is necessary to increase cereal production in response to the global food crisis. Population and pedigree methods of breeding, which are based on inbred line selection, are used commonly in the genetic improvement of autogamous crops. These methods, however, produce a few novel combinations of genes in a breeding population. Recurrent selection promotes recombination among genes and produces novel combinations of genes in a breeding population, but it requires inaccurate single-plant evaluation for selection. Genomic selection (GS, which can predict genetic potential of individuals based on their marker genotype, might have high reliability of single-plant evaluation and might be effective in recurrent selection. To evaluate the efficiency of recurrent selection with GS, we conducted simulations using real marker genotype data of rice cultivars. Additionally, we introduced the concept of an "island model" inspired by evolutionary algorithms that might be useful to maintain genetic variation through the breeding process. We conducted GS simulations using real marker genotype data of rice cultivars to evaluate the efficiency of recurrent selection and the island model in an autogamous species. Results demonstrated the importance of producing novel combinations of genes through recurrent selection. An initial population derived from admixture of multiple bi-parental crosses showed larger genetic gains than a population derived from a single bi-parental cross in whole cycles, suggesting the importance of genetic variation in an initial population. The island-model GS better maintained genetic improvement in later generations than the other GS methods, suggesting that the island-model GS can utilize genetic variation in breeding and can retain alleles with small effects in the breeding population. The island-model GS will become a new breeding method that enhances the

  9. A genetic atlas of human admixture history.

    Science.gov (United States)

    Hellenthal, Garrett; Busby, George B J; Band, Gavin; Wilson, James F; Capelli, Cristian; Falush, Daniel; Myers, Simon

    2014-02-14

    Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed by using genetic data alone and encompassing over 100 events occurring over the past 4000 years. We identified events whose dates and participants suggest they describe genetic impacts of the Mongol empire, Arab slave trade, Bantu expansion, first millennium CE migrations in Eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations.

  10. Genetics Home Reference: autoimmune Addison disease

    Science.gov (United States)

    ... common in particular ethnic groups? Genetic Changes The cause of autoimmune Addison disease is complex and not completely understood. A combination ... is not caused by an autoimmune reaction. Other causes include infections that ... adrenal glands. Addison disease can also be one of several features of ...

  11. Corporate Social Responsibility; Learnt rather than Imposed

    DEFF Research Database (Denmark)

    Justenlund, Anders; Rebelo, Sofia

    is setup and combined with a theoretical discussion of human learning, positive social change, and integrative learning within the hospitality organisation. This research recognisesthe importance of the individual's motives for exercising CSR at the lower levels of the organisation. The intention...... is to provide a perspective on the positive social processes that lower level employees (middle management/employees) undergo when working according to CSR-principles, based on social motives and behaviour, combined with an introduction to the learning intentions of low educated employees at lower...... organisational level. A hermeneutical paradigm is applied to the understanding of human (inter-) action in relation to understanding a phenomenon as CSR and motives for social change. It is suggested that the process of postive social change is divided into four phases, similar to The Human Learning Process...

  12. Systems genetics of obesity in an F2 pig model by genome-wide association, genetic network and pathway analyses

    DEFF Research Database (Denmark)

    Kogelman, Lisette; Pant, Sameer Dinkar; Fredholm, Merete

    2014-01-01

    .g. metabolic processes. WISH networks based on genotypic correlations allowed further identification of various gene ontology terms and pathways related to obesity and related traits, which were not identified by the GWA study. In conclusion, this is the first study to develop a (genetic) obesity index...... investigations focusing on single genetic variants have achieved limited success, and the importance of including genetic interactions is becoming evident. Here, the aim was to perform an integrative genomic analysis in an F2 pig resource population that was constructed with an aim to maximize genetic variation...... of obesity-related phenotypes and genotyped using the 60K SNP chip. Firstly, Genome Wide Association (GWA) analysis was performed on the Obesity Index to locate candidate genomic regions that were further validated using combined Linkage Disequilibrium Linkage Analysis and investigated by evaluation...

  13. Combining Diffusion Models and Macroeconomic Indicators with a Modified Genetic Programming Method: Implementation in Forecasting the Number of Mobile Telecommunications Subscribers in OECD Countries

    Directory of Open Access Journals (Sweden)

    Konstantinos Salpasaranis

    2014-01-01

    Full Text Available This paper proposes a modified Genetic Programming method for forecasting the mobile telecommunications subscribers’ population. The method constitutes an expansion of the hybrid Genetic Programming (hGP method improved by the introduction of diffusion models for technological forecasting purposes in the initial population, such as the Logistic, Gompertz, and Bass, as well as the Bi-Logistic and LogInLog. In addition, the aforementioned functions and models expand the function set of hGP. The application of the method in combination with macroeconomic indicators such as Gross Domestic Product per Capita (GDPpC and Consumer Prices Index (CPI leads to the creation of forecasting models and scenarios for medium- and long-term level of predictability. The forecasting module of the program has also been improved with the multi-levelled use of the statistical indices as fitness functions and model selection indices. The implementation of the modified-hGP in the datasets of mobile subscribers in the Organisation for Economic Cooperation and Development (OECD countries shows very satisfactory forecasting performance.

  14. An overview of human genetic privacy.

    Science.gov (United States)

    Shi, Xinghua; Wu, Xintao

    2017-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that needs to be carefully addressed, not only for individuals but also for their families. In this paper, we present potential genetic privacy risks and relevant ethics and regulations for sharing and protecting human genomics data. We also describe the techniques for protecting human genetic privacy from three broad perspectives: controlled access, differential privacy, and cryptographic solutions. © 2016 New York Academy of Sciences.

  15. An overview of human genetic privacy

    Science.gov (United States)

    Shi, Xinghua; Wu, Xintao

    2016-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that needs to be carefully addressed, not only for individuals but also for their families. In this paper, we present potential genetic privacy risks and relevant ethics and regulations for sharing and protecting human genomics data. We also describe the techniques for protecting human genetic privacy from three broad perspectives: controlled access, differential privacy, and cryptographic solutions. PMID:27626905

  16. Increased genetic variance of BMI with a higher prevalence of obesity

    DEFF Research Database (Denmark)

    Rokholm, Benjamin; Silventoinen, Karri; Ängquist, Lars

    2011-01-01

    populations. Several recent studies suggest that the genetic effects on adiposity may be stronger when combined with presumed risk factors for obesity. We tested the hypothesis that a higher prevalence of obesity and overweight and a higher BMI mean is associated with a larger genetic variation in BMI....

  17. In situ conservation and landscape genetics in forest species

    Directory of Open Access Journals (Sweden)

    Martín L.M.

    2012-03-01

    Full Text Available Conservation of forest genetic resources is essential for sustaining the environmental and productive values of forests. One of the environmental values is the conservation of the diversity that is assessed through the amount of genetic diversity stored by forests, their structure and dynamics. The current need for forest conservation and management has driven a rapid expansion of landscape genetics discipline that combines tools from molecular genetics, landscape ecology and spatial statistics and is decisive for improving not only ecological knowledge but also for properly managing population genetic resources. The objective of this study is to show the way to establish the safeguard of genetic diversity through this approach using the results obtained in sweet chestnut (Castanea sativa Mill. that has provided a better understanding on the species genetic resources. In this respect, we will show how the information provided by different types of molecular markers (genomic and genic offer more accurate indication on the distribution of the genetic diversity among and within populations assuming different evolutionary drivers.

  18. Feature extraction from multiple data sources using genetic programming.

    Energy Technology Data Exchange (ETDEWEB)

    Szymanski, J. J. (John J.); Brumby, Steven P.; Pope, P. A. (Paul A.); Eads, D. R. (Damian R.); Galassi, M. C. (Mark C.); Harvey, N. R. (Neal R.); Perkins, S. J. (Simon J.); Porter, R. B. (Reid B.); Theiler, J. P. (James P.); Young, A. C. (Aaron Cody); Bloch, J. J. (Jeffrey J.); David, N. A. (Nancy A.); Esch-Mosher, D. M. (Diana M.)

    2002-01-01

    Feature extration from imagery is an important and long-standing problem in remote sensing. In this paper, we report on work using genetic programming to perform feature extraction simultaneously from multispectral and digital elevation model (DEM) data. The tool used is the GENetic Imagery Exploitation (GENIE) software, which produces image-processing software that inherently combines spatial and spectral processing. GENIE is particularly useful in exploratory studies of imagery, such as one often does in combining data from multiple sources. The user trains the software by painting the feature of interest with a simple graphical user interface. GENIE then uses genetic programming techniques to produce an image-processing pipeline. Here, we demonstrate evolution of image processing algorithms that extract a range of land-cover features including towns, grasslands, wild fire burn scars, and several types of forest. We use imagery from the DOE/NNSA Multispectral Thermal Imager (MTI) spacecraft, fused with USGS 1:24000 scale DEM data.

  19. Sex-specific genetic effects in physical activity: results from a quantitative genetic analysis.

    Science.gov (United States)

    Diego, Vincent P; de Chaves, Raquel Nichele; Blangero, John; de Souza, Michele Caroline; Santos, Daniel; Gomes, Thayse Natacha; dos Santos, Fernanda Karina; Garganta, Rui; Katzmarzyk, Peter T; Maia, José A R

    2015-08-01

    The objective of this study is to present a model to estimate sex-specific genetic effects on physical activity (PA) levels and sedentary behaviour (SB) using three generation families. The sample consisted of 100 families covering three generations from Portugal. PA and SB were assessed via the International Physical Activity Questionnaire short form (IPAQ-SF). Sex-specific effects were assessed by genotype-by-sex interaction (GSI) models and sex-specific heritabilities. GSI effects and heterogeneity were tested in the residual environmental variance. SPSS 17 and SOLAR v. 4.1 were used in all computations. The genetic component for PA and SB domains varied from low to moderate (11% to 46%), when analyzing both genders combined. We found GSI effects for vigorous PA (p = 0.02) and time spent watching television (WT) (p < 0.001) that showed significantly higher additive genetic variance estimates in males. The heterogeneity in the residual environmental variance was significant for moderate PA (p = 0.02), vigorous PA (p = 0.006) and total PA (p = 0.001). Sex-specific heritability estimates were significantly higher in males only for WT, with a male-to-female difference in heritability of 42.5 (95% confidence interval: 6.4, 70.4). Low to moderate genetic effects on PA and SB traits were found. Results from the GSI model show that there are sex-specific effects in two phenotypes, VPA and WT with a stronger genetic influence in males.

  20. Growth and Its Relationship to Individual Genetic Diversity of Mountain Hemlock (Tsuga mertensiana at Alpine Treeline in Alaska: Combining Dendrochronology and Genomics

    Directory of Open Access Journals (Sweden)

    Jeremy S. Johnson

    2017-11-01

    Full Text Available Globally, alpine treelines are characterized as temperature-limited environments with strong controls on tree growth. However, at local scales spatially heterogeneous environments generally have more variable impacts on individual patterns of tree growth. In addition to the landscape spatial heterogeneity there is local variability in individual tree genetic diversity (level of individual heterozygosity. It has been hypothesized that higher individual heterozygosity will result in more consistent patterns of growth. In this article, we combine genomics and dendrochronology to explore the relationship between individual genetic diversity and tree growth at a mountain hemlock (Tsuga mertensiana Bong. Carr alpine treeline on the Kenai Peninsula, Alaska, USA. We correlated average observed individual heterozygosity with average tree-ring width and variance in tree-ring width within individuals to test the hypothesis that trees with higher individual heterozygosity will also have more consistent growth patterns, suggesting that they may be more resilient to climate and environmental fluctuations at the alpine treeline. Our results showed that there was no significant relationship between tree growth and individual heterozygosity. However, there was a significant positive relationship between average tree-ring width and variance in tree-ring width implying that overall, fast growing trees in stressful environments, such as the alpine treeline, grow unstably regardless of the level of individual heterozygosity.

  1. Laser Controlled Molecular Orientation Dynamics

    International Nuclear Information System (INIS)

    Atabek, O.

    2004-01-01

    Molecular orientation is a challenging control issue covering a wide range of applications from reactive collisions, high order harmonic generation, surface processing and catalysis, to nanotechnologies. The laser control scenario rests on the following three steps: (i) depict some basic mechanisms producing dynamical orientation; (ii) use them both as computational and interpretative tools in optimal control schemes involving genetic algorithms; (iii) apply what is learnt from optimal control to improve the basic mechanisms. The existence of a target molecular rotational state combining the advantages of efficient and post-pulse long duration orientation is shown. A strategy is developed for reaching such a target in terms of a train of successive short laser pulses applied at predicted time intervals. Each individual pulse imparts a kick to the molecule which orients. Transposition of such strategies to generic systems is now under investigation

  2. Human genetic factors in tuberculosis: an update.

    Science.gov (United States)

    van Tong, Hoang; Velavan, Thirumalaisamy P; Thye, Thorsten; Meyer, Christian G

    2017-09-01

    Tuberculosis (TB) is a major threat to human health, especially in many developing countries. Human genetic variability has been recognised to be of great relevance in host responses to Mycobacterium tuberculosis infection and in regulating both the establishment and the progression of the disease. An increasing number of candidate gene and genome-wide association studies (GWAS) have focused on human genetic factors contributing to susceptibility or resistance to TB. To update previous reviews on human genetic factors in TB we searched the MEDLINE database and PubMed for articles from 1 January 2014 through 31 March 2017 and reviewed the role of human genetic variability in TB. Search terms applied in various combinations were 'tuberculosis', 'human genetics', 'candidate gene studies', 'genome-wide association studies' and 'Mycobacterium tuberculosis'. Articles in English retrieved and relevant references cited in these articles were reviewed. Abstracts and reports from meetings were also included. This review provides a recent summary of associations of polymorphisms of human genes with susceptibility/resistance to TB. © 2017 John Wiley & Sons Ltd.

  3. Coronary artery disease-associated genetic variants and biomarkers of inflammation

    DEFF Research Database (Denmark)

    Christiansen, Morten Krogh; Larsen, Sanne Bøjet; Nyegaard, Mette

    2017-01-01

    score was calculated to assess the combined risk associated with all the genetic variants. A multiple linear regression model was used to assess associations between the genetic risk score, single SNPs, and the five inflammatory biomarkers. RESULTS:The minor allele (G) (CAD risk allele) of rs2075650......INTRODUCTION:Genetic constitution and inflammation both contribute to development of coronary artery disease (CAD). Several CAD-associated single-nucleotide polymorphisms (SNPs) have recently been identified, but their functions are largely unknown. We investigated the associations between CAD...

  4. Global genetic diversity of Aedes aegypti.

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi Bin; Fernandez-Salas, Ildefonso; Kamal, Hany A; Kamgang, Basile; Khater, Emad I M; Kramer, Laura D; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B; Saleh, Amag A; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A; Tabachnick, Walter J; Troyo, Adriana; Powell, Jeffrey R

    2016-11-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti from 30 countries in six continents, and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya), the two subspecies remain genetically distinct, whereas in urban settings, they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th centuries was followed by its introduction to Asia in the late 19th century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for the methods using genetic modification of populations. © 2016 John Wiley & Sons Ltd.

  5. Global Genetic Diversity of Aedes aegypti

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D.; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi bin; Fernandez-Salas, Ildefonso; Kamal, Hany A.; Kamgang, Basile; Khater, Emad I. M.; Kramer, Laura D.; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B.; Saleh, Amag A.; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A.; Tabachnick, Walter J.; Troyo, Adriana; Powell, Jeffrey R.

    2016-01-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti, from 30 countries in six continents and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya) the two subspecies remain genetically distinct whereas in urban settings they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats, and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th Centuries was followed by its introduction to Asia in the late 19th Century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l.. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for methods using genetic modification of populations. PMID:27671732

  6. A genetic atlas of human admixture history

    Science.gov (United States)

    Hellenthal, Garrett; Busby, George B.J.; Band, Gavin; Wilson, James F.; Capelli, Cristian

    2014-01-01

    Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed using genetic data alone and encompassing over 100 events occurring over the past 4,000 years. We identify events whose dates and participants suggest they describe genetic impacts of the Mongol Empire, Arab slave trade, Bantu expansion, first millennium CE migrations in eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations. PMID:24531965

  7. Combining Maize Base Germplasm for Cold Tolerance Breeding

    OpenAIRE

    Rodríguez Graña, Víctor Manuel; Butrón Gómez, Ana María; Sandoya Miranda, Germán; Ordás Pérez, Amando; Revilla Temiño, Pedro

    2007-01-01

    Early planting can contribute to increased grain yield of maize (Zea mays L.), but it requires cold tolerance. A limited number of cold-tolerant maize genotypes have been reported. The objectives of this study were to test a new strategy to improve cold tolerance in maize searching for broad x narrow genetic combinations that may be useful as base populations for breeding programs, to compare genotype performance under cold-controlled and field conditions, and to establish the major genetic e...

  8. Monthly streamflow forecasting using continuous wavelet and multi-gene genetic programming combination

    Science.gov (United States)

    Hadi, Sinan Jasim; Tombul, Mustafa

    2018-06-01

    Streamflow is an essential component of the hydrologic cycle in the regional and global scale and the main source of fresh water supply. It is highly associated with natural disasters, such as droughts and floods. Therefore, accurate streamflow forecasting is essential. Forecasting streamflow in general and monthly streamflow in particular is a complex process that cannot be handled by data-driven models (DDMs) only and requires pre-processing. Wavelet transformation is a pre-processing technique; however, application of continuous wavelet transformation (CWT) produces many scales that cause deterioration in the performance of any DDM because of the high number of redundant variables. This study proposes multigene genetic programming (MGGP) as a selection tool. After the CWT analysis, it selects important scales to be imposed into the artificial neural network (ANN). A basin located in the southeast of Turkey is selected as case study to prove the forecasting ability of the proposed model. One month ahead downstream flow is used as output, and downstream flow, upstream, rainfall, temperature, and potential evapotranspiration with associated lags are used as inputs. Before modeling, wavelet coherence transformation (WCT) analysis was conducted to analyze the relationship between variables in the time-frequency domain. Several combinations were developed to investigate the effect of the variables on streamflow forecasting. The results indicated a high localized correlation between the streamflow and other variables, especially the upstream. In the models of the standalone layout where the data were entered to ANN and MGGP without CWT, the performance is found poor. In the best-scale layout, where the best scale of the CWT identified as the highest correlated scale is chosen and enters to ANN and MGGP, the performance increased slightly. Using the proposed model, the performance improved dramatically particularly in forecasting the peak values because of the inclusion

  9. A method to optimize the shield compact and lightweight combining the structure with components together by genetic algorithm and MCNP code.

    Science.gov (United States)

    Cai, Yao; Hu, Huasi; Pan, Ziheng; Hu, Guang; Zhang, Tao

    2018-05-17

    To optimize the shield for neutrons and gamma rays compact and lightweight, a method combining the structure and components together was established employing genetic algorithms and MCNP code. As a typical case, the fission energy spectrum of 235 U which mixed neutrons and gamma rays was adopted in this study. Six types of materials were presented and optimized by the method. Spherical geometry was adopted in the optimization after checking the geometry effect. Simulations have made to verify the reliability of the optimization method and the efficiency of the optimized materials. To compare the materials visually and conveniently, the volume and weight needed to build a shield are employed. The results showed that, the composite multilayer material has the best performance. Copyright © 2018 Elsevier Ltd. All rights reserved.

  10. Dominance genetic variance for traits under directional selection in Drosophila serrata.

    Science.gov (United States)

    Sztepanacz, Jacqueline L; Blows, Mark W

    2015-05-01

    In contrast to our growing understanding of patterns of additive genetic variance in single- and multi-trait combinations, the relative contribution of nonadditive genetic variance, particularly dominance variance, to multivariate phenotypes is largely unknown. While mechanisms for the evolution of dominance genetic variance have been, and to some degree remain, subject to debate, the pervasiveness of dominance is widely recognized and may play a key role in several evolutionary processes. Theoretical and empirical evidence suggests that the contribution of dominance variance to phenotypic variance may increase with the correlation between a trait and fitness; however, direct tests of this hypothesis are few. Using a multigenerational breeding design in an unmanipulated population of Drosophila serrata, we estimated additive and dominance genetic covariance matrices for multivariate wing-shape phenotypes, together with a comprehensive measure of fitness, to determine whether there is an association between directional selection and dominance variance. Fitness, a trait unequivocally under directional selection, had no detectable additive genetic variance, but significant dominance genetic variance contributing 32% of the phenotypic variance. For single and multivariate morphological traits, however, no relationship was observed between trait-fitness correlations and dominance variance. A similar proportion of additive and dominance variance was found to contribute to phenotypic variance for single traits, and double the amount of additive compared to dominance variance was found for the multivariate trait combination under directional selection. These data suggest that for many fitness components a positive association between directional selection and dominance genetic variance may not be expected. Copyright © 2015 by the Genetics Society of America.

  11. Osteogenesis imperfecta in combination with Graves disease

    Directory of Open Access Journals (Sweden)

    Marina S. Sheremeta

    2017-12-01

    Full Text Available Osteogenesis imperfecta (OI – is a group of genetically disorders, which are charaterized by a disturbed bone formation. In turn, the excess of thyroid hormones in Graves' disease (GD also posses a negative effect on bone tissue, thereby aggravating OI. That requires from the endocrinologist the most careful management of patients with the combination of these pathologies. In this article, we present a unique clinical case of a combination of GD and OI.

  12. Evaluation of the present genetic conservation efforts in Pinus sylvestris, Picea abies, Quercus spp., Fagus sylvatica, and Pinus pinaster

    NARCIS (Netherlands)

    Kramer, K.

    2015-01-01

    Information on genetic diversity and gene conservation activities were combined with climatic data to evaluate the present genetic conservation efforts in Pinus sylvestris, Picea abies, Quercus spp., Fagus sylvatica, and Pinus pinaster. Combinations of climatic variables explained much of the

  13. Genetic algorithm based feature selection combined with dual classification for the automated detection of proliferative diabetic retinopathy.

    Science.gov (United States)

    Welikala, R A; Fraz, M M; Dehmeshki, J; Hoppe, A; Tah, V; Mann, S; Williamson, T H; Barman, S A

    2015-07-01

    Proliferative diabetic retinopathy (PDR) is a condition that carries a high risk of severe visual impairment. The hallmark of PDR is the growth of abnormal new vessels. In this paper, an automated method for the detection of new vessels from retinal images is presented. This method is based on a dual classification approach. Two vessel segmentation approaches are applied to create two separate binary vessel map which each hold vital information. Local morphology features are measured from each binary vessel map to produce two separate 4-D feature vectors. Independent classification is performed for each feature vector using a support vector machine (SVM) classifier. The system then combines these individual outcomes to produce a final decision. This is followed by the creation of additional features to generate 21-D feature vectors, which feed into a genetic algorithm based feature selection approach with the objective of finding feature subsets that improve the performance of the classification. Sensitivity and specificity results using a dataset of 60 images are 0.9138 and 0.9600, respectively, on a per patch basis and 1.000 and 0.975, respectively, on a per image basis. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Advances in combination therapy of lung cancer

    DEFF Research Database (Denmark)

    Wu, Lan; Leng, Donglei; Cun, Dongmei

    2017-01-01

    Lung cancer is a complex disease caused by a multitude of genetic and environmental factors. The progression of lung cancer involves dynamic changes in the genome and a complex network of interactions between cancer cells with multiple, distinct cell types that form tumors. Combination therapy......, including small molecule drugs and biopharmaceuticals, which make the optimization of dosing and administration schedule challenging. This article reviews the recent advances in the design and development of combinations of pharmaceuticals for the treatment of lung cancer. Focus is primarily on rationales...... for the selection of specific combination therapies for lung cancer treatment, and state of the art of delivery technologies and dosage regimens for the combinations, tested in preclinical and clinical trials....

  15. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

    DEFF Research Database (Denmark)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M

    2017-01-01

    BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy...

  16. Artificial intelligence in drug combination therapy.

    Science.gov (United States)

    Tsigelny, Igor F

    2018-02-09

    Currently, the development of medicines for complex diseases requires the development of combination drug therapies. It is necessary because in many cases, one drug cannot target all necessary points of intervention. For example, in cancer therapy, a physician often meets a patient having a genomic profile including more than five molecular aberrations. Drug combination therapy has been an area of interest for a while, for example the classical work of Loewe devoted to the synergism of drugs was published in 1928-and it is still used in calculations for optimal drug combinations. More recently, over the past several years, there has been an explosion in the available information related to the properties of drugs and the biomedical parameters of patients. For the drugs, hundreds of 2D and 3D molecular descriptors for medicines are now available, while for patients, large data sets related to genetic/proteomic and metabolomics profiles of the patients are now available, as well as the more traditional data relating to the histology, history of treatments, pretreatment state of the organism, etc. Moreover, during disease progression, the genetic profile can change. Thus, the ability to optimize drug combinations for each patient is rapidly moving beyond the comprehension and capabilities of an individual physician. This is the reason, that biomedical informatics methods have been developed and one of the more promising directions in this field is the application of artificial intelligence (AI). In this review, we discuss several AI methods that have been successfully implemented in several instances of combination drug therapy from HIV, hypertension, infectious diseases to cancer. The data clearly show that the combination of rule-based expert systems with machine learning algorithms may be promising direction in this field. © The Author(s) 2018. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. Internet of Things Platform for Smart Farming: Experiences and Lessons Learnt.

    Science.gov (United States)

    Jayaraman, Prem Prakash; Yavari, Ali; Georgakopoulos, Dimitrios; Morshed, Ahsan; Zaslavsky, Arkady

    2016-11-09

    crop recommendations for any particular farm. SmartFarmNet can integrate virtually any IoT device, including commercially available sensors, cameras, weather stations, etc., and store their data in the cloud for performance analysis and recommendations. An evaluation of the SmartFarmNet platform and our experiences and lessons learnt in developing this system concludes the paper. SmartFarmNet is the first and currently largest system in the world (in terms of the number of sensors attached, crops assessed, and users it supports) that provides crop performance analysis and recommendations.

  18. Internet of Things Platform for Smart Farming: Experiences and Lessons Learnt

    Directory of Open Access Journals (Sweden)

    Prem Prakash Jayaraman

    2016-11-01

    and personalised crop recommendations for any particular farm. SmartFarmNet can integrate virtually any IoT device, including commercially available sensors, cameras, weather stations, etc., and store their data in the cloud for performance analysis and recommendations. An evaluation of the SmartFarmNet platform and our experiences and lessons learnt in developing this system concludes the paper. SmartFarmNet is the first and currently largest system in the world (in terms of the number of sensors attached, crops assessed, and users it supports that provides crop performance analysis and recommendations.

  19. Genetic diversity in cultivated carioca common beans based on molecular marker analysis

    Directory of Open Access Journals (Sweden)

    Juliana Morini Küpper Cardoso Perseguini

    2011-01-01

    Full Text Available A wide array of molecular markers has been used to investigate the genetic diversity among common bean species. However, the best combination of markers for studying such diversity among common bean cultivars has yet to be determined. Few reports have examined the genetic diversity of the carioca bean, commercially one of the most important common beans in Brazil. In this study, we examined the usefulness of two molecular marker systems (simple sequence repeats - SSRs and amplified fragment length polymorphisms - AFLPs for assessing the genetic diversity of carioca beans. The amount of information provided by Roger's modified genetic distance was used to analyze SSR data and Jaccards similarity coefficient was used for AFLP data. Seventy SSRs were polymorphic and 20 AFLP primer combinations produced 635 polymorphic bands. Molecular analysis showed that carioca genotypes were quite diverse. AFLPs revealed greater genetic differentiation and variation within the carioca genotypes (Gst = 98% and Fst = 0.83, respectively than SSRs and provided better resolution for clustering the carioca genotypes. SSRs and AFLPs were both suitable for assessing the genetic diversity of Brazilian carioca genotypes since the number of markers used in each system provided a low coefficient of variation. However, fingerprint profiles were generated faster with AFLPs, making them a better choice for assessing genetic diversity in the carioca germplasm.

  20. Genetic architecture of the Delis-Kaplan Executive Function System Trail Making Test: evidence for distinct genetic influences on executive function.

    Science.gov (United States)

    Vasilopoulos, Terrie; Franz, Carol E; Panizzon, Matthew S; Xian, Hong; Grant, Michael D; Lyons, Michael J; Toomey, Rosemary; Jacobson, Kristen C; Kremen, William S

    2012-03-01

    To examine how genes and environments contribute to relationships among Trail Making Test (TMT) conditions and the extent to which these conditions have unique genetic and environmental influences. Participants included 1,237 middle-aged male twins from the Vietnam Era Twin Study of Aging. The Delis-Kaplan Executive Function System TMT included visual searching, number and letter sequencing, and set-shifting components. Phenotypic correlations among TMT conditions ranged from 0.29 to 0.60, and genes accounted for the majority (58-84%) of each correlation. Overall heritability ranged from 0.34 to 0.62 across conditions. Phenotypic factor analysis suggested a single factor. In contrast, genetic models revealed a single common genetic factor but also unique genetic influences separate from the common factor. Genetic variance (i.e., heritability) of number and letter sequencing was completely explained by the common genetic factor while unique genetic influences separate from the common factor accounted for 57% and 21% of the heritabilities of visual search and set shifting, respectively. After accounting for general cognitive ability, unique genetic influences accounted for 64% and 31% of those heritabilities. A common genetic factor, most likely representing a combination of speed and sequencing, accounted for most of the correlation among TMT 1-4. Distinct genetic factors, however, accounted for a portion of variance in visual scanning and set shifting. Thus, although traditional phenotypic shared variance analysis techniques suggest only one general factor underlying different neuropsychological functions in nonpatient populations, examining the genetic underpinnings of cognitive processes with twin analysis can uncover more complex etiological processes.

  1. Patience, persistence and pragmatism: experiences and lessons learnt from the implementation of clinically integrated teaching and learning of evidence-based health care - a qualitative study.

    Directory of Open Access Journals (Sweden)

    Taryn Young

    Full Text Available Clinically integrated teaching and learning are regarded as the best options for improving evidence-based healthcare (EBHC knowledge, skills and attitudes. To inform implementation of such strategies, we assessed experiences and opinions on lessons learnt of those involved in such programmes.We conducted semi-structured interviews with 24 EBHC programme coordinators from around the world, selected through purposive sampling. Following data transcription, a multidisciplinary group of investigators carried out analysis and data interpretation, using thematic content analysis. Successful implementation of clinically integrated teaching and learning of EBHC takes much time. Student learning needs to start in pre-clinical years with consolidation, application and assessment following in clinical years. Learning is supported through partnerships between various types of staff including the core EBHC team, clinical lecturers and clinicians working in the clinical setting. While full integration of EBHC learning into all clinical rotations is considered necessary, this was not always achieved. Critical success factors were pragmatism and readiness to use opportunities for engagement and including EBHC learning in the curriculum; patience; and a critical mass of the right teachers who have EBHC knowledge and skills and are confident in facilitating learning. Role modelling of EBHC within the clinical setting emerged as an important facilitator. The institutional context exerts an important influence; with faculty buy-in, endorsement by institutional leaders, and an EBHC-friendly culture, together with a supportive community of practice, all acting as key enablers. The most common challenges identified were lack of teaching time within the clinical curriculum, misconceptions about EBHC, resistance of staff, lack of confidence of tutors, lack of time, and negative role modelling.Implementing clinically integrated EBHC curricula requires institutional

  2. Genetic and environmental effects of mortality before age 70 years

    DEFF Research Database (Denmark)

    Petersen, Liselotte; Andersen, Per Kragh; Sørensen, Thorkild I.A.

    2008-01-01

    BACKGROUND:: There is a familial influence on risk of many diseases and on mortality in general, which, according to studies of twins, is due to a combination of genetic and environmental effects. Adoption studies, which rest on different assumptions, may also be used to estimate separately...... the genetic and environmental effects on rate of dying. METHODS:: The genetic influence on the rate of dying before age 70 years was investigated by estimation of the associations in total and cause-specific mortality of Danish adoptees and their biologic full and half siblings. Familial environmental...

  3. Use of net reclassification improvement (NRI method confirms the utility of combined genetic risk score to predict type 2 diabetes.

    Directory of Open Access Journals (Sweden)

    Claudia H T Tam

    Full Text Available BACKGROUND: Recent genome-wide association studies (GWAS identified more than 70 novel loci for type 2 diabetes (T2D, some of which have been widely replicated in Asian populations. In this study, we investigated their individual and combined effects on T2D in a Chinese population. METHODOLOGY: We selected 14 single nucleotide polymorphisms (SNPs in T2D genes relating to beta-cell function validated in Asian populations and genotyped them in 5882 Chinese T2D patients and 2569 healthy controls. A combined genetic score (CGS was calculated by summing up the number of risk alleles or weighted by the effect size for each SNP under an additive genetic model. We tested for associations by either logistic or linear regression analysis for T2D and quantitative traits, respectively. The contribution of the CGS for predicting T2D risk was evaluated by receiver operating characteristic (ROC analysis and net reclassification improvement (NRI. RESULTS: We observed consistent and significant associations of IGF2BP2, WFS1, CDKAL1, SLC30A8, CDKN2A/B, HHEX, TCF7L2 and KCNQ1 (8.5×10(-18

  4. Melanoma risk prediction using a multilocus genetic risk score in the Women's Health Initiative cohort.

    Science.gov (United States)

    Cho, Hyunje G; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Assimes, Themistocles; Han, Jiali; Stefanick, Marcia; Tang, Jean Y; Sarin, Kavita Y

    2018-07-01

    Single-nucleotide polymorphisms (SNPs) associated with melanoma have been identified though genome-wide association studies. However, the combined impact of these SNPs on melanoma development remains unclear, particularly in postmenopausal women who carry a lower melanoma risk. We examine the contribution of a combined polygenic risk score on melanoma development in postmenopausal women. Genetic risk scores were calculated using 21 genome-wide association study-significant SNPs. Their combined effect on melanoma development was evaluated in 19,102 postmenopausal white women in the clinical trial and observational study arms of the Women's Health Initiative dataset. Compared to the tertile of weighted genetic risk score with the lowest genetic risk, the women in the tertile with the highest genetic risk were 1.9 times more likely to develop melanoma (95% confidence interval 1.50-2.42). The incremental change in c-index from adding genetic risk scores to age were 0.075 (95% confidence interval 0.041-0.109) for incident melanoma. Limitations include a lack of information on nevi count, Fitzpatrick skin type, family history of melanoma, and potential reporting and selection bias in the Women's Health Initiative cohort. Higher genetic risk is associated with increased melanoma prevalence and incidence in postmenopausal women, but current genetic information may have a limited role in risk prediction when phenotypic information is available. Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  5. Detection of Healthcare-Related Extended-Spectrum Beta-Lactamase-Producing Escherichia coli Transmission Events Using Combined Genetic and Phenotypic Epidemiology.

    Directory of Open Access Journals (Sweden)

    Anne F Voor In 't Holt

    Full Text Available Since the year 2000 there has been a sharp increase in the prevalence of healthcare-related infections caused by extended-spectrum beta-lactamase (ESBL-producing Escherichia coli. However, the high community prevalence of ESBL-producing E. coli isolates means that many E. coli typing techniques may not be suitable for detecting E. coli transmission events. Therefore, we investigated if High-throughput MultiLocus Sequence Typing (HiMLST and/or Raman spectroscopy were suitable techniques for detecting recent E. coli transmission events.This study was conducted from January until December 2010 at Erasmus University Medical Center, Rotterdam, the Netherlands. Isolates were typed using HiMLST and Raman spectroscopy. A genetic cluster was defined as two or more patients carrying identical isolates. We used predefined definitions for epidemiological relatedness to assess healthcare-related transmission.We included 194 patients; strains of 112 patients were typed using HiMLST and strains of 194 patients were typed using Raman spectroscopy. Raman spectroscopy identified 16 clusters while HiMLST identified 10 clusters. However, no healthcare-related transmission events were detected. When combining data from both typing techniques, we identified eight clusters (n = 34 patients, as well as 78 patients with a non-cluster isolate. However, we could not detect any healthcare-related transmission in these 8 clusters.Although clusters were genetically detected using HiMLST and Raman spectroscopy, no definite epidemiological relationships could be demonstrated which makes the possibility of healthcare-related transmission events highly unlikely. Our results suggest that typing of ESBL-producing E. coli using HiMLST and/or Raman spectroscopy is not helpful in detecting E. coli healthcare-related transmission events.

  6. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

    NARCIS (Netherlands)

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M.; Papatheodorou, Efstathios; Ware, James S.; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R.; Crawford, Jackie; Love, Donald R.; Pua, Chee J.; Soh, Bee Y.; Bhalshankar, Jaydutt D.; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G.; van der Werf, Christian; Wijeyeratne, Yanushi D.; Mellor, Greg; Till, Jan; Cohen, Marta C.; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A. M.; Cook, Stuart A.; Bezzina, Connie R.; Sheppard, Mary N.; Behr, Elijah R.

    2017-01-01

    Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and

  7. Cultural transmission of tool use combined with habitat specializations leads to fine-scale genetic structure in bottlenose dolphins

    NARCIS (Netherlands)

    Kopps, Anna M.; Ackermann, Corinne Y.; Sherwin, William B.; Allen, Simon J.; Bejder, Lars; Kruetzen, Michael

    2014-01-01

    Socially learned behaviours leading to genetic population structure have rarely been described outside humans. Here, we provide evidence of fine-scale genetic structure that has probably arisen based on socially transmitted behaviours in bottlenose dolphins (Tursiops sp.) in western Shark Bay,

  8. Intratumor heterogeneity alters most effective drugs in designed combinations.

    Science.gov (United States)

    Zhao, Boyang; Hemann, Michael T; Lauffenburger, Douglas A

    2014-07-22

    The substantial spatial and temporal heterogeneity observed in patient tumors poses considerable challenges for the design of effective drug combinations with predictable outcomes. Currently, the implications of tissue heterogeneity and sampling bias during diagnosis are unclear for selection and subsequent performance of potential combination therapies. Here, we apply a multiobjective computational optimization approach integrated with empirical information on efficacy and toxicity for individual drugs with respect to a spectrum of genetic perturbations, enabling derivation of optimal drug combinations for heterogeneous tumors comprising distributions of subpopulations possessing these perturbations. Analysis across probabilistic samplings from the spectrum of various possible distributions reveals that the most beneficial (considering both efficacy and toxicity) set of drugs changes as the complexity of genetic heterogeneity increases. Importantly, a significant likelihood arises that a drug selected as the most beneficial single agent with respect to the predominant subpopulation in fact does not reside within the most broadly useful drug combinations for heterogeneous tumors. The underlying explanation appears to be that heterogeneity essentially homogenizes the benefit of drug combinations, reducing the special advantage of a particular drug on a specific subpopulation. Thus, this study underscores the importance of considering heterogeneity in choosing drug combinations and offers a principled approach toward designing the most likely beneficial set, even if the subpopulation distribution is not precisely known.

  9. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

    DEFF Research Database (Denmark)

    Grarup, Niels; Sulem, Patrick; Sandholt, Camilla H

    2013-01-01

    of the underlying biology of human traits and diseases. Here, we used a large Icelandic whole genome sequence dataset combined with Danish exome sequence data to gain insight into the genetic architecture of serum levels of vitamin B12 (B12) and folate. Up to 22.9 million sequence variants were analyzed in combined...... in serum B12 or folate levels do not modify the risk of developing these conditions. Yet, the study demonstrates the value of combining whole genome and exome sequencing approaches to ascertain the genetic and molecular architectures underlying quantitative trait associations....

  10. Common Genetic Variants Found in HLA and KIR Immune Genes in Autism Spectrum Disorder

    OpenAIRE

    Torres, Anthony R.; Sweeten, Thayne L.; Johnson, Randall C.; Odell, Dennis; Westover, Jonna B.; Bray-Ward, Patricia; Ward, David C.; Davies, Christopher J.; Thomas, Aaron J.; Croen, Lisa A.; Benson, Michael

    2016-01-01

    The common variant - common disease hypothesis was proposed to explain diseases with strong inheritance. This model suggests that a genetic disease is the result of the combination of several common genetic variants. Common genetic variants are described as a 5% frequency differential between diseased versus matched control populations. This theory was recently supported by an epidemiology paper stating that about 50% of genetic risk for autism resides in common variants. However, rare va...

  11. Optimal Design of Passive Power Filters Based on Pseudo-parallel Genetic Algorithm

    Science.gov (United States)

    Li, Pei; Li, Hongbo; Gao, Nannan; Niu, Lin; Guo, Liangfeng; Pei, Ying; Zhang, Yanyan; Xu, Minmin; Chen, Kerui

    2017-05-01

    The economic costs together with filter efficiency are taken as targets to optimize the parameter of passive filter. Furthermore, the method of combining pseudo-parallel genetic algorithm with adaptive genetic algorithm is adopted in this paper. In the early stages pseudo-parallel genetic algorithm is introduced to increase the population diversity, and adaptive genetic algorithm is used in the late stages to reduce the workload. At the same time, the migration rate of pseudo-parallel genetic algorithm is improved to change with population diversity adaptively. Simulation results show that the filter designed by the proposed method has better filtering effect with lower economic cost, and can be used in engineering.

  12. On-line monitoring of extraction process of Flos Lonicerae Japonicae using near infrared spectroscopy combined with synergy interval PLS and genetic algorithm

    Science.gov (United States)

    Yang, Yue; Wang, Lei; Wu, Yongjiang; Liu, Xuesong; Bi, Yuan; Xiao, Wei; Chen, Yong

    2017-07-01

    There is a growing need for the effective on-line process monitoring during the manufacture of traditional Chinese medicine to ensure quality consistency. In this study, the potential of near infrared (NIR) spectroscopy technique to monitor the extraction process of Flos Lonicerae Japonicae was investigated. A new algorithm of synergy interval PLS with genetic algorithm (Si-GA-PLS) was proposed for modeling. Four different PLS models, namely Full-PLS, Si-PLS, GA-PLS, and Si-GA-PLS, were established, and their performances in predicting two quality parameters (viz. total acid and soluble solid contents) were compared. In conclusion, Si-GA-PLS model got the best results due to the combination of superiority of Si-PLS and GA. For Si-GA-PLS, the determination coefficient (Rp2) and root-mean-square error for the prediction set (RMSEP) were 0.9561 and 147.6544 μg/ml for total acid, 0.9062 and 0.1078% for soluble solid contents, correspondingly. The overall results demonstrated that the NIR spectroscopy technique combined with Si-GA-PLS calibration is a reliable and non-destructive alternative method for on-line monitoring of the extraction process of TCM on the production scale.

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    linkage map; quantitative trait loci; stomata; stress tolerance; eucalyptus ... Correlation of stomatal traits when combined with growth and wood properties would have greater implications for generation of stress tolerant eucalypt hybrids with higher ... Institute of Forest Genetics and Tree Breeding, Coimbatore 641 002, India ...

  14. Radiation application on development of marker genes for genetic manipulation

    International Nuclear Information System (INIS)

    Lee, Young Il

    1997-04-01

    This state of art report was dealt with the recent progress of genetic engineering techniques and prospect of gene manipulation. Especially the selection of new genetic marker genes such as variants to environmental stress, pest or insect resistance, herbicide resistance and nutritional requirement was reviewed by using plant cell and tissue culture combined with radiation mutation induction. Biotechnology has taken us from the era hybrid plants to the era of transgenic plants. Although there are still many problems to solve in transformation method and the regeneration of transformed cell and tissue. Genetic marker genes are very important material to improve the technique of genetic manipulation. Most of the genes have been developed by radiation. (author). 180 refs., 6 tabs

  15. COMBINATION OF GENETIC ALGORITHM AND DEMPSTER-SHAFER THEORY OF EVIDENCE FOR LAND COVER CLASSIFICATION USING INTEGRATION OF SAR AND OPTICAL SATELLITE IMAGERY

    Directory of Open Access Journals (Sweden)

    H. T. Chu

    2012-07-01

    Full Text Available The integration of different kinds of remotely sensed data, in particular Synthetic Aperture Radar (SAR and optical satellite imagery, is considered a promising approach for land cover classification because of the complimentary properties of each data source. However, the challenges are: how to fully exploit the capabilities of these multiple data sources, which combined datasets should be used and which data processing and classification techniques are most appropriate in order to achieve the best results. In this paper an approach, in which synergistic use of a feature selection (FS methods with Genetic Algorithm (GA and multiple classifiers combination based on Dempster-Shafer Theory of Evidence, is proposed and evaluated for classifying land cover features in New South Wales, Australia. Multi-date SAR data, including ALOS/PALSAR, ENVISAT/ASAR and optical (Landsat 5 TM+ images, were used for this study. Textural information were also derived and integrated with the original images. Various combined datasets were generated for classification. Three classifiers, namely Artificial Neural Network (ANN, Support Vector Machines (SVMs and Self-Organizing Map (SOM were employed. Firstly, feature selection using GA was applied for each classifier and dataset to determine the optimal input features and parameters. Then the results of three classifiers on particular datasets were combined using the Dempster-Shafer theory of Evidence. Results of this study demonstrate the advantages of the proposed method for land cover mapping using complex datasets. It is revealed that the use of GA in conjunction with the Dempster-Shafer Theory of Evidence can significantly improve the classification accuracy. Furthermore, integration of SAR and optical data often outperform single-type datasets.

  16. Kallmann syndrome and paranoid schizophrenia: A rare combination

    NARCIS (Netherlands)

    W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); J.E.J.M. Hovens (Hans); E.H. Hoefsloot (Lies)

    2013-01-01

    textabstractKallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been

  17. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  18. Genetic parameters and genetic trends in the Chinese × European Tiameslan composite pig line. II. Genetic trends

    Directory of Open Access Journals (Sweden)

    Legault Christian

    2000-01-01

    Full Text Available Abstract The Tiameslan line was created between 1983 and 1985 by mating Meishan × Jiaxing crossbred Chinese boars with sows from the Laconie composite male line. The Tiameslan line has been selected since then on an index combining average backfat thickness (ABT and days from 20 to 100 kg (DT. Direct and correlated responses to 11 years of selection were estimated using BLUP methodology applied to a multiple trait animal model. A total of 11 traits were considered, i.e.: ABT, DT, body weight at 4 (W4w, 8 (W8w and 22 (W22w weeks of age, teat number (TEAT, number of good teats (GTEAT, total number of piglets born (TNB, born alive (NBA and weaned (NW per litter, and birth to weaning survival rate (SURV. Performance data from a total of 4 881 males and 4 799 females from 1 341 litters were analysed. The models included both direct and maternal effects for ABT, W4w and W8w. Male and female performances were considered as different traits for W22w, DT and ABT. Genetic parameters estimated in another paper (Zhang et al., Genet. Sel. Evol. 32 (2000 41-56 were used to perform the analyses. Favourable phenotypic (ΔP and direct genetic trends (ΔGd were obtained for post-weaning growth traits and ABT. Trends for maternal effects were limited. Phenotypic and genetic trends were larger in females than in males for ABT (e.g. ΔGd = -0.48 vs. -0.38 mm/year, were larger in males for W22w (ΔGd = 0.90 vs. 0.58 kg/year and were similar in both sexes for DT (ΔGd = -0.54 vs. -0.55 day/year. Phenotypic and genetic trends were slightly favourable for W4w, W8w, TEAT and GTEAT and close to zero for reproductive traits.

  19. 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

  20. 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.

  1. Genetic engineering, a hope for sustainable biofuel production: review

    Directory of Open Access Journals (Sweden)

    Sudip Paudel

    2014-06-01

    Full Text Available The use of recently developed genetic engineering tools in combination with organisms that have the potential to produce precursors for the production of biodiesel, promises a sustainable and environment friendly energy source. Enhanced lipid production in wild type and/or genetically engineered organisms can offer sufficient raw material for industrial transesterification of plant-based triglycerides. Bio-diesel, produced with the help of genetically modified organisms, might be one of the best alternatives to fossil fuels and to mitigate various environmental hazards. DOI: http://dx.doi.org/10.3126/ije.v3i2.10644 International Journal of the Environment Vol.3(2 2014: 311-323

  2. Is the Experience of Thermal Pain Genetics Dependent?

    Directory of Open Access Journals (Sweden)

    Emilia Horjales-Araujo

    2015-01-01

    Full Text Available It is suggested that genetic variations explain a significant portion of the variability in pain perception; therefore, increased understanding of pain-related genetic influences may identify new targets for therapies and treatments. The relative contribution of the different genes to the variance in clinical and experimental pain responses remains unknown. It is suggested that the genetic contributions to pain perception vary across pain modalities. For example, it has been suggested that more than 60% of the variance in cold pressor responses can be explained by genetic factors; in comparison, only 26% of the variance in heat pain responses is explained by these variations. Thus, the selection of pain model might markedly influence the magnitude of the association between the pain phenotype and genetic variability. Thermal pain sensation is complex with multiple molecular and cellular mechanisms operating alone and in combination within the peripheral and central nervous system. It is thus highly probable that the thermal pain experience is affected by genetic variants in one or more of the pathways involved in the thermal pain signaling. This review aims to present and discuss some of the genetic variations that have previously been associated with different experimental thermal pain models.

  3. Direct-to-consumer sales of genetic services on the Internet.

    Science.gov (United States)

    Gollust, Sarah E; Wilfond, Benjamin S; Hull, Sara Chandros

    2003-01-01

    PURPOSE The increasing use of the Internet to obtain genetics information and to order medical services without a prescription, combined with a rise in direct-to-consumer marketing for genetic testing, suggests the potential for the Internet to be used to sell genetic services. METHODS A systematic World Wide Web search was conducted in May 2002 to assess the availability of genetic services sold directly to consumers on the Internet. RESULTS Out of 105 sites that offered genetic services directly, most offered non-health-related services, including parentage confirmation testing (83%), identity testing (56%), and DNA banking (24%); however, health-related genetic tests were offered through 14 sites (13%). The health-related genetic tests available ranged from standard tests, such as hemochromatosis and cystic fibrosis, to more unconventional tests related to nutrition, behavior, and aging. Of these 14 sites, 5 described risks associated with the genetic services and 6 described the availability of counseling. CONCLUSIONS The availability of direct sales of health-related genetic tests creates the potential for inadequate pretest decision making, misunderstanding test results, and access to tests of questionable clinical value.

  4. Clonal growth and fine-scale genetic structure in tanoak (Notholithocarpus densiflorus: Fagaceae)

    Science.gov (United States)

    Richard S. Dodd; Wasima Mayer; Alejandro Nettel; Zara Afzal-Rafii

    2013-01-01

    The combination of sprouting and reproduction by seed can have important consequences on fine-scale spatial distribution of genetic structure (SGS). SGS is an important consideration for species’ restoration because it determines the minimum distance among seed trees to maximize genetic diversity while not prejudicing locally adapted genotypes. Local environmental...

  5. The power of stories in Pediatrics and Genetics.

    Science.gov (United States)

    Opitz, John M; Pavone, Lorenzo; Corsello, Giovanni

    2016-04-05

    On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was "Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel". The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world.

  6. QTL mapping of combining ability and heterosis of agronomic traits in rice backcross recombinant inbred lines and hybrid crosses.

    Directory of Open Access Journals (Sweden)

    Zhen Qu

    Full Text Available BACKGROUND: Combining ability effects are very effective genetic parameters in deciding the next phase of breeding programs. Although some breeding strategies on the basis of evaluating combining ability have been utilized extensively in hybrid breeding, little is known about the genetic basis of combining ability. Combining ability is a complex trait that is controlled by polygenes. With the advent and development of molecular markers, it is feasible to evaluate the genetic bases of combining ability and heterosis of elite rice hybrids through QTL analysis. METHODOLOGY/PRINCIPAL FINDINGS: In the present study, we first developed a QTL-mapping method for dissecting combining ability and heterosis of agronomic traits. With three testcross populations and a BCRIL population in rice, biometric and QTL analyses were conducted for ten agronomic traits. The significance of general combining ability and special combining ability for most of the traits indicated the importance of both additive and non-additive effects on expression levels. A large number of additive effect QTLs associated with performance per se of BCRIL and general combining ability, and dominant effect QTLs associated with special combining ability and heterosis were identified for the ten traits. CONCLUSIONS/SIGNIFICANCE: The combining ability of agronomic traits could be analyzed by the QTL mapping method. The characteristics revealed by the QTLs for combining ability of agronomic traits were similar with those by multitudinous QTLs for agronomic traits with performance per se of BCRIL. Several QTLs (1-6 in this study were identified for each trait for combining ability. It demonstrated that some of the QTLs were pleiotropic or linked tightly with each other. The identification of QTLs responsible for combining ability and heterosis in the present study provides valuable information for dissecting genetic basis of combining ability.

  7. Coffee, Genetic Variants, and Parkinson's Disease: Gene–Environment Interactions

    OpenAIRE

    Yamada-Fowler, Naomi; Söderkvist, Peter

    2015-01-01

    Studies of gene–environment interactions may help us to understand the disease mechanisms of common and complex diseases such as Parkinson's disease (PD). Sporadic PD, the common form of PD, is thought to be a multifactorial disorder caused by combinations of multiple genetic factors and environmental or life-style exposures. Since one of the most extensively studied life-style factors in PD is coffee/caffeine intake, here, the studies of genetic polymorphisms with life-style interactions of ...

  8. Genetic analysis of fibre quality traits in upland cotton

    International Nuclear Information System (INIS)

    Khan, I.A.; Shakeel, A.; Azhar, F.M.

    2001-01-01

    Five-parent diallel cross data were analysed following Hayman-Jinks genetic model in order to study pattern of inheritance of staple length, fibre strength, fibre fineness and fibre uniformity of upland cotton. The regression analysis of the F/sub 1/ data revealed that the simple additive dominance model was adequate for genetic analysis. Graphic analysis showed the presence of over-dominance type of gene action in the inheritance e of all the traits. The comparison of array means indicated that varieties Co-2-1 and B-682 had good general combining ability for staple length and fibre strength respectively, whilst CIM-443 showed better general combining ability for fibre fineness and fibre uniformity than the other varieties. The cross combination of Co-2-1 and CIM-443 with B-682 expressed best specific combining ability for staple length and fibre uniformity respectively. Similarly variety B-682 nickel well with DPL 7740-424 for the fibre strength, and coker-307 with CO-2-1 for fibre fineness. The type of gene action controlling inheritance of these characters, and better performance of some of the hybrids suggest that improvement may be possible by developing on appropriate breeding programme. (author)

  9. Logic analysis and verification of n-input genetic logic circuits

    DEFF Research Database (Denmark)

    Baig, Hasan; Madsen, Jan

    2017-01-01

    . In this paper, we present an approach to analyze and verify the Boolean logic of a genetic circuit from the data obtained through stochastic analog circuit simulations. The usefulness of this analysis is demonstrated through different case studies illustrating how our approach can be used to verify the expected......Nature is using genetic logic circuits to regulate the fundamental processes of life. These genetic logic circuits are triggered by a combination of external signals, such as chemicals, proteins, light and temperature, to emit signals to control other gene expressions or metabolic pathways...... accordingly. As compared to electronic circuits, genetic circuits exhibit stochastic behavior and do not always behave as intended. Therefore, there is a growing interest in being able to analyze and verify the logical behavior of a genetic circuit model, prior to its physical implementation in a laboratory...

  10. Determination of genetic diversity among some almond accessions

    Directory of Open Access Journals (Sweden)

    Pinar Hasan

    2015-01-01

    Full Text Available More recently the use of different molecular markers in fruit species to determine particularly genetic diversity, genetic relationships and cultivar identification has been gained more importance. In the study, 13 randomly amplified polimorfic DNA (RAPD and 4 inter-simple sequence repeat (ISSR markers were used to evaluate genetic relationships among 95 almong accessions (26 foreign cultivars and 69 national cultivars and selections. The all plant material found in Almond Germplasm Repository in Gaziantep, Turkey. Both RAPD and ISSR markers distinguished the almond cultivars and selections in various levels. 17 RAPD and ISSR markers yielded a total of 73 scorable bands, which 51 are polymorphic. The two marker system exhibited variation with regard to average band sizes and polymorphism ratio. The average polymorphism was higher in ISSR (88% compared to RAPD (74%. RAPD and ISSR marker systems were found to be useful for determining genetic diversity among almong genotypes and cultivars. Combining of two dendrograms obtained through these markers show different clustering of 96 almond specimens without geographical isolation. These results supported that almonds in Turkey indicated considerable genetic diversity.

  11. Patience, Persistence and Pragmatism: Experiences and Lessons Learnt from the Implementation of Clinically Integrated Teaching and Learning of Evidence-Based Health Care – A Qualitative Study

    Science.gov (United States)

    Young, Taryn; Rohwer, Anke; van Schalkwyk, Susan; Volmink, Jimmy; Clarke, Mike

    2015-01-01

    Background Clinically integrated teaching and learning are regarded as the best options for improving evidence-based healthcare (EBHC) knowledge, skills and attitudes. To inform implementation of such strategies, we assessed experiences and opinions on lessons learnt of those involved in such programmes. Methods and Findings We conducted semi-structured interviews with 24 EBHC programme coordinators from around the world, selected through purposive sampling. Following data transcription, a multidisciplinary group of investigators carried out analysis and data interpretation, using thematic content analysis. Successful implementation of clinically integrated teaching and learning of EBHC takes much time. Student learning needs to start in pre-clinical years with consolidation, application and assessment following in clinical years. Learning is supported through partnerships between various types of staff including the core EBHC team, clinical lecturers and clinicians working in the clinical setting. While full integration of EBHC learning into all clinical rotations is considered necessary, this was not always achieved. Critical success factors were pragmatism and readiness to use opportunities for engagement and including EBHC learning in the curriculum; patience; and a critical mass of the right teachers who have EBHC knowledge and skills and are confident in facilitating learning. Role modelling of EBHC within the clinical setting emerged as an important facilitator. The institutional context exerts an important influence; with faculty buy-in, endorsement by institutional leaders, and an EBHC-friendly culture, together with a supportive community of practice, all acting as key enablers. The most common challenges identified were lack of teaching time within the clinical curriculum, misconceptions about EBHC, resistance of staff, lack of confidence of tutors, lack of time, and negative role modelling. Conclusions Implementing clinically integrated EBHC curricula

  12. The complete nucleotide sequences of the 5 genetically distinct plastid genomes of Oenothera, subsection Oenothera: II. A microevolutionary view using bioinformatics and formal genetic data.

    Science.gov (United States)

    Greiner, Stephan; Wang, Xi; Herrmann, Reinhold G; Rauwolf, Uwe; Mayer, Klaus; Haberer, Georg; Meurer, Jörg

    2008-09-01

    A unique combination of genetic features and a rich stock of information make the flowering plant genus Oenothera an appealing model to explore the molecular basis of speciation processes including nucleus-organelle coevolution. From representative species, we have recently reported complete nucleotide sequences of the 5 basic and genetically distinguishable plastid chromosomes of subsection Oenothera (I-V). In nature, Oenothera plastid genomes are associated with 6 distinct, either homozygous or heterozygous, diploid nuclear genotypes of the 3 basic genomes A, B, or C. Artificially produced plastome-genome combinations that do not occur naturally often display interspecific plastome-genome incompatibility (PGI). In this study, we compare formal genetic data available from all 30 plastome-genome combinations with sequence differences between the plastomes to uncover potential determinants for interspecific PGI. Consistent with an active role in speciation, a remarkable number of genes have high Ka/Ks ratios. Different from the Solanacean cybrid model Atropa/tobacco, RNA editing seems not to be relevant for PGIs in Oenothera. However, predominantly sequence polymorphisms in intergenic segments are proposed as possible sources for PGI. A single locus, the bidirectional promoter region between psbB and clpP, is suggested to contribute to compartmental PGI in the interspecific AB hybrid containing plastome I (AB-I), consistent with its perturbed photosystem II activity.

  13. Lifestyle Advice Combined with Personalized Estimates of Genetic or Phenotypic Risk of Type 2 Diabetes, and Objectively Measured Physical Activity: A Randomized Controlled Trial.

    Directory of Open Access Journals (Sweden)

    Job G Godino

    2016-11-01

    Full Text Available Information about genetic and phenotypic risk of type 2 diabetes is now widely available and is being incorporated into disease prevention programs. Whether such information motivates behavior change or has adverse effects is uncertain. We examined the effect of communicating an estimate of genetic or phenotypic risk of type 2 diabetes in a parallel group, open, randomized controlled trial.We recruited 569 healthy middle-aged adults from the Fenland Study, an ongoing population-based, observational study in the east of England (Cambridgeshire, UK. We used a computer-generated random list to assign participants in blocks of six to receive either standard lifestyle advice alone (control group, n = 190 or in combination with a genetic (n = 189 or a phenotypic (n = 190 risk estimate for type 2 diabetes (intervention groups. After 8 wk, we measured the primary outcome, objectively measured physical activity (kJ/kg/day, and also measured several secondary outcomes (including self-reported diet, self-reported weight, worry, anxiety, and perceived risk. The study was powered to detect a between-group difference of 4.1 kJ/kg/d at follow-up. 557 (98% participants completed the trial. There were no significant intervention effects on physical activity (difference in adjusted mean change from baseline: genetic risk group versus control group 0.85 kJ/kg/d (95% CI -2.07 to 3.77, p = 0.57; phenotypic risk group versus control group 1.32 (95% CI -1.61 to 4.25, p = 0.38; and genetic risk group versus phenotypic risk group -0.47 (95% CI -3.40 to 2.46, p = 0.75. No significant differences in self-reported diet, self-reported weight, worry, and anxiety were observed between trial groups. Estimates of perceived risk were significantly more accurate among those who received risk information than among those who did not. Key limitations include the recruitment of a sample that may not be representative of the UK population, use of self-reported secondary outcome

  14. Genetic architecture of plant stress resistance : Multi-trait genome-wide association mapping

    NARCIS (Netherlands)

    Thoen, Manus P M; Davila Olivas, Nelson H.; Kloth, Karen J.; Coolen, Silvia; Huang, Ping Ping; Aarts, Mark G M; Bac-Molenaar, Johanna A.; Bakker, Jaap; Bouwmeester, Harro J.; Broekgaarden, Colette; Bucher, Johan; Busscher-Lange, Jacqueline; Cheng, Xi; Fradin, Emilie F.; Jongsma, Maarten A.; Julkowska, Magdalena M.; Keurentjes, Joost J B; Ligterink, Wilco; Pieterse, Corné M J; Ruyter-Spira, Carolien; Smant, Geert; Testerink, Christa; Usadel, Björn; van Loon, Joop J A; van Pelt, Johan A.; van Schaik, Casper C.; van Wees, Saskia C M; Visser, Richard G F; Voorrips, Roeland; Vosman, Ben; Vreugdenhil, Dick; Warmerdam, Sonja; Wiegers, Gerrie L.; van Heerwaarden, Joost; Kruijer, Willem; van Eeuwijk, Fred A.; Dicke, Marcel

    2017-01-01

    Plants are exposed to combinations of various biotic and abiotic stresses, but stress responses are usually investigated for single stresses only. Here, we investigated the genetic architecture underlying plant responses to 11 single stresses and several of their combinations by phenotyping 350

  15. Roads, interrupted dispersal, and genetic diversity in timber rattlesnakes.

    Science.gov (United States)

    Clark, Rulon W; Brown, William S; Stechert, Randy; Zamudio, Kelly R

    2010-08-01

    Anthropogenic habitat modification often creates barriers to animal movement, transforming formerly contiguous habitat into a patchwork of habitat islands with low connectivity. Roadways are a feature of most landscapes that can act as barriers or filters to migration among local populations. Even small and recently constructed roads can have a significant impact on population genetic structure of some species, but not others. We developed a research approach that combines fine-scale molecular genetics with behavioral and ecological data to understand the impacts of roads on population structure and connectivity. We used microsatellite markers to characterize genetic variation within and among populations of timber rattlesnakes (Crotalus horridus) occupying communal hibernacula (dens) in regions bisected by roadways. We examined the impact of roads on seasonal migration, genetic diversity, and gene flow among populations. Snakes in hibernacula isolated by roads had significantly lower genetic diversity and higher genetic differentiation than snakes in hibernacula in contiguous habitat. Genetic-assignment analyses revealed that interruption to seasonal migration was the mechanism underlying these patterns. Our results underscore the sizeable impact of roads on this species, despite their relatively recent construction at our study sites (7 to 10 generations of rattlesnakes), the utility of population genetics for studies of road ecology, and the need for mitigating effects of roads.

  16. Lessons learnt from the first EMEP intensive measurement periods

    Directory of Open Access Journals (Sweden)

    W. Aas

    2012-09-01

    explained by an underestimation of residential wood burning sources. It should be noted that both primary and secondary OC has been included in the calculations for the first time, showing promising results. Mineral dust is important, especially in southern Europe, and the model seems to capture the dust episodes well. The lack of measurements of mineral dust hampers the possibility for model evaluation for this highly uncertain PM component.

    There are also lessons learnt regarding improved measurements for future intensive periods. There is a need for increased comparability between the measurements at different sites. For the nitrogen compounds it is clear that more measurements using artefact free methods based on continuous measurement methods and/or denuders are needed. For EC/OC, a reference methodology (both in field and laboratory was lacking during these periods giving problems with comparability, though measurement protocols have recently been established and these should be followed by the Parties to the EMEP Protocol. For measurements with no defined protocols, it might be a good solution to use centralised laboratories to ensure comparability across the network. To cope with the introduction of these new measurements, new reporting guidelines have been developed to ensure that all proper information about the methodologies and data quality is given.

  17. Genetic variation facilitates seedling establishment but not population growth rate of a perennial invader.

    Science.gov (United States)

    Li, Shou-Li; Vasemägi, Anti; Ramula, Satu

    2016-01-01

    Assessing the demographic consequences of genetic variation is fundamental to invasion biology. However, genetic and demographic approaches are rarely combined to explore the effects of genetic variation on invasive populations in natural environments. This study combined population genetics, demographic data and a greenhouse experiment to investigate the consequences of genetic variation for the population fitness of the perennial, invasive herb Lupinus polyphyllus. Genetic and demographic data were collected from 37 L. polyphyllus populations representing different latitudes in Finland, and genetic variation was characterized based on 13 microsatellite loci. Associations between genetic variation and population size, population density, latitude and habitat were investigated. Genetic variation was then explored in relation to four fitness components (establishment, survival, growth, fecundity) measured at the population level, and the long-term population growth rate (λ). For a subset of populations genetic variation was also examined in relation to the temporal variability of λ. A further assessment was made of the role of natural selection in the observed variation of certain fitness components among populations under greenhouse conditions. It was found that genetic variation correlated positively with population size, particularly at higher latitudes, and differed among habitat types. Average seedling establishment per population increased with genetic variation in the field, but not under greenhouse conditions. Quantitative genetic divergence (Q(ST)) based on seedling establishment in the greenhouse was smaller than allelic genetic divergence (F'(ST)), indicating that unifying selection has a prominent role in this fitness component. Genetic variation was not associated with average survival, growth or fecundity measured at the population level, λ or its variability. The study suggests that although genetic variation may facilitate plant invasions by

  18. [Advance in the methods of preimplantation genetic diagnosis for single gene diseases].

    Science.gov (United States)

    Ren, Yixin; Qiao, Jie; Yan, Liying

    2017-06-10

    More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.

  19. [The study of tomato fruit weight quantitative trait locus and its application in genetics teaching].

    Science.gov (United States)

    Wang, Hai-yan

    2015-08-01

    The classical research cases, which have greatly promoted the development of genetics in history, can be combined with the content of courses in genetics teaching to train students' ability of scientific thinking and genetic analysis. The localization and clone of gene controlling tomato fruit weight is a pioneer work in quantitative trait locus (QTL) studies and represents a complete process of QTL research in plants. Application of this integrated case in genetics teaching, which showed a wonderful process of scientific discovery and the fascination of genetic research, has inspired students' interest in genetics and achieved a good teaching effect.

  20. Genetic diversity of Pogonatherum paniceum (Lam.) Hack. in ...

    African Journals Online (AJOL)

    Amplified fragment length polymorphism (AFLP) markers were used to estimate the genetic diversity of Pogonatherum paniceum (Lam.) Hack. from Sichuan Province, Yunnan Province, Chongqing City and. Guangxi Zhuang autonomous Region in China. 10 primer combinations were carried out on 180 different individuals ...

  1. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

    Directory of Open Access Journals (Sweden)

    Valdivielso Pedro

    2010-04-01

    Full Text Available Abstract Background Hypertriglyceridemia (HTG is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. Methods A subgroup of the ICARIA study comprising 1825 Spanish subjects (80% men, mean age 36 years was genotyped for the LPL-HindIII (rs320, S447X (rs328, D9N (rs1801177 and N291S (rs268 polymorphisms, the APOA5-S19W (rs3135506 and -1131T/C (rs662799 variants, and the APOE polymorphism (rs429358; rs7412 using PCR and restriction analysis and TaqMan assays. We used regression analyses to examine their combined effects on TG levels (with the log-transformed variable and the association of variant combinations with TG levels and hypertriglyceridemia (TG ≥ 1.69 mmol/L, including the covariates: gender, age, waist circumference, blood glucose, blood pressure, smoking and alcohol consumption. Results We found a significant lowering effect of the LPL-HindIII and S447X polymorphisms (p APOE-ε4 allele were significantly associated with an independent additive TG-raising effect (p p p p p p p = 0.042 and having one single raising polymorphism (OR = 1.20; 95% CI, 1.39-2.87; p p Conclusion Our results showed a significant independent additive effect on TG levels of the LPL polymorphisms HindIII, S447X, D9N and N291S; the S19W and -1131T/C variants of APOA5, and the ε4 allele of APOE in our study population. Moreover, some of the variant combinations studied were significantly associated with the absence or the presence of hypertriglyceridemia.

  2. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Cotranslational protein folding reveals the selective use of synonymous codons along the coding sequence of a low expression gene ... Genetic analysis to identify good combiners for ToLCV resistance and yield components in tomato ... The colocation of O. nivara-derived yield QTL with yield meta-QTL on chromosomes 1, ...

  3. Genetics of Valvular Heart Disease

    Science.gov (United States)

    LaHaye, Stephanie; Lincoln, Joy

    2015-01-01

    Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease. PMID:24743897

  4. The Combined Multi-objective Optimization Design for a Light Guide Rod

    International Nuclear Information System (INIS)

    Yang, Yu-Sen; Fung, Rong-Fong; Shih, Chun-Yao; Chien, Hong-Yao

    2013-01-01

    The light guide rod (LGR) has been popularly used for the vehicles, and the automobile lamp industries need mass production to match this trend. This paper aims to develop a systemic way to find the best parameters' combination for the LGR, and the parameters are usually restricted to some levels and random values. In this paper, the LGR example with two optical performances of illuminance flux and uniformity is to be optimized by use of the real-coded genetic algorithm (RGA) and grey relational analysis (GRA). The illuminance flux and uniformity of the best parameters' combination are obtained and compared with the initial set. Comparisons with Taguchi-Grey can improve 5% of gain and comparisons with Pareto genetic algorithm (PaGA) can improve 1.7% of gain. The combined multi-objective optimization can saving 7% time and it is found that the new proposed method has positive gains in performances.

  5. Keloid Scarring: Understanding the Genetic Basis, Advances, and Prospects

    Directory of Open Access Journals (Sweden)

    Ahmad Sukari Halim

    2012-05-01

    Full Text Available Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.

  6. Combining ability of phenological traits and seed yield in spring rapeseed genotypes

    Directory of Open Access Journals (Sweden)

    Rameeh Valiollah

    2015-12-01

    Full Text Available Six parents and their 15 F2 diallel progenies, totally 21 genotypes, were evaluated for genetic parameters of quantitative characteristics. The traits of interest were growing degree days (GDDs from sowing to the flowering (DDF, to end of flowering (DDE, flowering period (DFP, to maturity (DDM and seed yield (SY. Significant mean squares of general combining ability (GCA was exhibited for DDF, DDE, DFP, DDM and seed yield indicating significant differences of GCA effects of parents for these traits. Significant mean squares of specific combining ability (SCA for all the traits exhibited the importance of non additive genetic effects for the traits. Significant ratio of MS(GCA/MS(SCA and high narrow sense heritability estimates for DDF, DDE, DDM indicating the prime importance of additive genetic effects for controlling these traits. DFP was also less heritable than the other phonological traits, so the efficiency of selection for this trait will be low. All of the combinations with significant negative SCA effects for DDM had at least one parent with significant negative GCA effect for this trait. PF7045/91 with significant positive GCA effect of SY, was best combiner for improving SY. Significant positive correlation between DDM and each of two traits including DDF and DDE, indicating these traits can be used as indirect selection criteria for improving DDM.

  7. 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.

  8. Lessons learnt form PSAS for new and advanced reactors in Russia

    International Nuclear Information System (INIS)

    Morozov, V.; Tokmachev, G.

    2012-01-01

    'best estimate' approach recommended by regulatory guides. Fourthly, the PSA development for advanced NPPs has raised some issues originated from unknown new components, processes and technologies incorporated into the design of an advanced plant. This is a challenge to PSA developers. The paper addresses some issues resolved while carrying out PSAs for advanced NPPs. They include the reliability estimation for new components, long-term mission time modeling, assessment of defense against common cause failures, software reliability treatment, etc. Finally, some PSA results for new advanced VVER plants under construction and the first lessons learnt from the Fukushima accident are discussed. (authors)

  9. Dominance genetic and maternal effects for genetic evaluation of egg production traits in dual-purpose chickens.

    Science.gov (United States)

    Jasouri, M; Zamani, P; Alijani, S

    2017-10-01

    1. A study was conducted to study direct dominance genetic and maternal effects on genetic evaluation of production traits in dual-purpose chickens. The data set consisted of records of body weight and egg production of 49 749 Mazandaran fowls from 19 consecutive generations. Based on combinations of different random effects, including direct additive and dominance genetic and maternal additive genetic and environmental effects, 8 different models were compared. 2. Inclusion of a maternal genetic effect in the models noticeably improved goodness of fit for all traits. Direct dominance genetic effect did not have noticeable effects on goodness of fit but simultaneous inclusion of both direct dominance and maternal additive genetic effects improved fitting criteria and accuracies of genetic parameter estimates for hatching body weight and egg production traits. 3. Estimates of heritability (h 2 ) for body weights at hatch, 8 weeks and 12 weeks of age (BW0, BW8 and BW12, respectively), age at sexual maturity (ASM), average egg weights at 28-32 weeks of laying period (AEW), egg number (EN) and egg production intensity (EI) were 0.08, 0.21, 0.22, 0.22, 0.21, 0.09 and 0.10, respectively. For BW0, BW8, BW12, ASM, AEW, EN and EI, proportion of dominance genetic to total phenotypic variance (d 2 ) were 0.06, 0.08, 0.01, 0.06, 0.06, 0.08 and 0.07 and maternal heritability estimates (m 2 ) were 0.05, 0.04, 0.03, 0.13, 0.21, 0.07 and 0.03, respectively. Negligible coefficients of maternal environmental effect (c 2 ) from 0.01 to 0.08 were estimated for all traits, other than BW0, which had an estimate of 0.30. 4. Breeding values (BVs) estimated for body weights at early ages (BW0 and BW8) were considerably affected by components of the models, but almost similar BVs were estimated by different models for higher age body weight (BW12) and egg production traits (ASM, AEW, EN and EI). Generally, it could be concluded that inclusion of maternal effects (both genetic and

  10. A combined evidence Bayesian method for human ancestry inference applied to Afro-Colombians.

    Science.gov (United States)

    Rishishwar, Lavanya; Conley, Andrew B; Vidakovic, Brani; Jordan, I King

    2015-12-15

    Uniparental genetic markers, mitochondrial DNA (mtDNA) and Y chromosomal DNA, are widely used for the inference of human ancestry. However, the resolution of ancestral origins based on mtDNA haplotypes is limited by the fact that such haplotypes are often found to be distributed across wide geographical regions. We have addressed this issue here by combining two sources of ancestry information that have typically been considered separately: historical records regarding population origins and genetic information on mtDNA haplotypes. To combine these distinct data sources, we applied a Bayesian approach that considers historical records, in the form of prior probabilities, together with data on the geographical distribution of mtDNA haplotypes, formulated as likelihoods, to yield ancestry assignments from posterior probabilities. This combined evidence Bayesian approach to ancestry assignment was evaluated for its ability to accurately assign sub-continental African ancestral origins to Afro-Colombians based on their mtDNA haplotypes. We demonstrate that the incorporation of historical prior probabilities via this analytical framework can provide for substantially increased resolution in sub-continental African ancestry assignment for members of this population. In addition, a personalized approach to ancestry assignment that involves the tuning of priors to individual mtDNA haplotypes yields even greater resolution for individual ancestry assignment. Despite the fact that Colombia has a large population of Afro-descendants, the ancestry of this community has been understudied relative to populations with primarily European and Native American ancestry. Thus, the application of the kind of combined evidence approach developed here to the study of ancestry in the Afro-Colombian population has the potential to be impactful. The formal Bayesian analytical framework we propose for combining historical and genetic information also has the potential to be widely applied

  11. Association analysis of multiple traits by an approach of combining ...

    Indian Academy of Sciences (India)

    Lili Chen

    diseases. Joint analysis of multiple traits can increase statistical power of association analysis and uncover the underlying genetic ... genthaler and Thilly 2007), the combined multivariate and ... Because of using reverse regression model, our.

  12. The Transmission Disequilibrium/Heterogeneity Test with Parental-Genotype Reconstruction for Refined Genetic Mapping of Complex Diseases

    Directory of Open Access Journals (Sweden)

    Jing Han

    2012-01-01

    Full Text Available In linkage analysis for mapping genetic diseases, the transmission/disequilibrium test (TDT uses the linkage disequilibrium (LD between some marker and trait loci for precise genetic mapping while avoiding confounding due to population stratification. The sib-TDT (S-TDT and combined-TDT (C-TDT proposed by Spielman and Ewens can combine data from families with and without parental marker genotypes (PMGs. For some families with missing PMG, the reconstruction-combined TDT (RC-TDT proposed by Knapp may be used to reconstruct missing parental genotypes from the genotypes of their offspring to increase power and to correct for potential bias. In this paper, we propose a further extension of the RC-TDT, called the reconstruction-combined transmission disequilibrium/heterogeneity (RC-TDH test, to take into account the identical-by-descent (IBD sharing information in addition to the LD information. It can effectively utilize families with missing or incomplete parental genetic marker information. An application of this proposed method to Genetic Analysis Workshop 14 (GAW14 data sets and extensive simulation studies suggest that this approach may further increase statistical power which is particularly valuable when LD is unknown and/or when some or all PMGs are not available.

  13. Noninvasive monitoring of the genetic evolution of EGFR-mutant non-small-cell lung cancer by analyzing circulating tumor DNA during combination chemotherapy with gefitinib and pemetrexed or S-1

    Directory of Open Access Journals (Sweden)

    Nakahara Y

    2016-08-01

    Full Text Available Yoshiro Nakahara,1,2 Yusuke Takagi,1,3 Yukio Hosomi,1 Akiko Kagei,4 Tomohiro Yamamoto,4 Takeshi Sawada,5 Makiko Yomota,1 Yusuke Okuma,1 Shinichiro Mikura,1,6 Tatsuru Okamura1 1Department of Thoracic Oncology and Respiratory Medicine, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, 2Department of Respiratory Medicine, Kitasato University School of Medicine, Sagamihara, 3Oncology Scientific Affairs, Merck Sharp & Dohme Corp, 4GeneticLab Co., Ltd., Sapporo, 5Department of Medical Oncology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, 6Department of Respiratory Medicine, Fujieda Municipal General Hospital, Fujieda, Japan Background: Repetitive genotyping is useful to assess the genetic evolution of non-small-cell lung cancer (NSCLC during treatment, but the need for sampling by biopsy is a major obstacle. Digital polymerase chain reaction (PCR is a promising procedure for the detection of mutant alleles in plasma of cancer patients.Methods: This prospective study enrolled patients with NSCLC and known epidermal growth factor receptor (EGFR mutations and who had experienced disease progression during ongoing EGFR-tyrosine kinase inhibitor (TKI therapy. Eligible patients received daily gefitinib and either pemetrexed or S-1 every 3 weeks until disease progression or the development of unacceptable toxicity. Peripheral blood was collected before and after the combination therapy for digital PCR and hepatocyte growth factor measurement.Results: From May 2012 to January 2014, nine patients with a median age of 67 (range 52–80 years were enrolled. Patterns of disease progression during adjacent EGFR-TKI therapy were acquired resistance, observed in seven patients, and primary resistance, observed in two patients. Known EGFR mutations were detected in plasma samples of six (67% patients at study enrollment. Of these, T790M mutation was concurrently detected in three (50% patients

  14. Decommissioning costing approach based on the standardised list of costing items. Lessons learnt by the OMEGA computer code

    International Nuclear Information System (INIS)

    Daniska, Vladimir; Rehak, Ivan; Vasko, Marek; Ondra, Frantisek; Bezak, Peter; Pritrsky, Jozef; Zachar, Matej; Necas, Vladimir

    2011-01-01

    The document 'A Proposed Standardised List of Items for Costing Purposes' was issues in 1999 by OECD/NEA, IAEA and European Commission (EC) for promoting the harmonisation in decommissioning costing. It is a systematic list of decommissioning activities classified in chapters 01 to 11 with three numbered levels. Four cost group are defined for cost at each level. Document constitutes the standardised matrix of decommissioning activities and cost groups with definition of content of items. Knowing what is behind the items makes the comparison of cost for decommissioning projects transparent. Two approaches are identified for use of the standardised cost structure. First approach converts the cost data from existing specific cost structures into the standardised cost structure for the purpose of cost presentation. Second approach uses the standardised cost structure as the base for the cost calculation structure; the calculated cost data are formatted in the standardised cost format directly; several additional advantages may be identified in this approach. The paper presents the costing methodology based on the standardised cost structure and lessons learnt from last ten years of the implementation of the standardised cost structure as the cost calculation structure in the computer code OMEGA. Code include also on-line management of decommissioning waste, decay of radioactively, evaluation of exposure, generation and optimisation of the Gantt chart of a decommissioning project, which makes the OMEGA code an effective tool for planning and optimisation of decommissioning processes. (author)

  15. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto

    2010-11-01

    Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

  16. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Science.gov (United States)

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  17. Genetic variability in local Brazilian horse lines using microsatellite markers.

    Science.gov (United States)

    Silva, A C M; Paiva, S R; Albuquerque, M S M; Egito, A A; Santos, S A; Lima, F C; Castro, S T; Mariante, A S; Correa, P S; McManus, C M

    2012-04-10

    Genetic variability at 11 microsatellite markers was analyzed in five naturalized/local Brazilian horse breeds or genetic groups. Blood samples were collected from 328 animals of the breeds Campeira (Santa Catarina State), Lavradeira (Roraima State), Pantaneira (Pantanal Mato-Grossense), Mangalarga Marchador (Minas Gerais State), as well as the genetic group Baixadeiro (Maranhão State), and the exotic breeds English Thoroughbred and Arab. We found significant genetic variability within evaluated microsatellite loci, with observed heterozygosis varying between 0.426 and 0.768 and polymorphism information content values of 0.751 to 0.914. All breeds showed high inbreeding coefficients and were not in Hardy-Weinberg equilibrium. The smallest genetic distance was seen between the Pantaneira and Arab breeds. The principal component analyzes and Bayesian approach demonstrated that the exotic breeds have had a significant influence on the genetic formation of the local breeds, with introgression of English Throroughbred in Pantaneira and Lavradeira, as well as genetic proximity between the Arab, Pantaneira and Mangalarga Marchador populations. This study shows the need to conserve traits acquired by naturalized horse breeds over centuries of natural selection in Brazil due to the genetic uniqueness of each group, suggesting a reduced gene flow between them. These results reinforce the need to include these herds in animal genetic resource conservation programs to maximize the genetic variability and conserve useful allele combinations.

  18. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

    2017-01-01

    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  19. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  20. Population genetic data for six non-combined DNA index system ...

    African Journals Online (AJOL)

    The respective values for the combined power of exclusion in these populations were 0.94 and 0.99. The allele frequency data generated can be used for estimating DNA profile frequencies for the studied populations residing in South Africa. Key words: Allele frequencies, MiniSTR, DNA typing, population data, South Africa ...

  1. Susceptibility of Biomphalaria spp. to infection with Schistosoma mansoni in sympatric and allopatric combinations with observations on the genetic variability between snails.

    Science.gov (United States)

    Mostafa, Osama M S; El-Dafrawy, Shadia M

    2011-08-25

    This investigation was carried out to study the susceptibility of Saudi Biomphalaria arabica to Egyptian Schistosoma mansoni in comparison with the susceptibility of Egyptian Biomphalaria alexandrina to the same parasite. This was in order to know the possibility that the parasite might be able to spread into Saudi Arabia and to determine the genetic variability between Egyptian B. alexandrina and Saudi Biomphalaria arabica snails. Lab bred Egyptian B. alexandrina and Saudi B. arabica snails were exposed individually to 10 freshly hatched Egyptian S. mansoni miracidia/snail. The mortality rate, infection rate, prepatent period, duration of cercarial shedding and cercariae production per snail were recorded in both the sympatric couple (Egyptian B. alexandrina and Egyptian S. mansoni) and in the allopatric combination (Saudi B. arabica and Egyptian S. mansoni). The results revealed that, the survival rate of snails exposed to Egyptian S. mansoni miracidia at 34th day post-exposure (at first cercarial shedding) was higher in B. arabica than in B. alexandrina. After shedding, the mortality rate was higher in the B. arabica, compared to B. alexandrina. The infection rate was higher in B. arabica than B. alexandrina; the mean of prepatent period was shorter in the B. arabica than in the B. alexandrina. However, the duration of cercarial shedding was longer in the Egyptian snails and the cercarial production per snail was higher in B. alexandrina snails than in B. arabica. To study the genetic variability between B. alexandrina and B. arabica, RAPD-PCR on the genomic DNA of snails was done. RAPD-PCR revealed significant variation between the two snail species. In conclusion, the results suggest that B. arabica can play a role in the transmission of Egyptian S. mansoni in Saudi Arabia and therefore this parasite might be able to spread into the Kingdom. In addition, the RAPD-PCR results demonstrated genetic variability between the two species which may be related to the

  2. Event Processing and Variable Part of Sample Period Determining in Combined Systems Using GA

    Science.gov (United States)

    Strémy, Maximilián; Závacký, Pavol; Jedlička, Martin

    2011-01-01

    This article deals with combined dynamic systems and usage of modern techniques in dealing with these systems, focusing particularly on sampling period design, cyclic processing tasks and related processing algorithms in the combined event management systems using genetic algorithms.

  3. Genetic variability in common wheat germplasm based on coefficients of parentage

    Directory of Open Access Journals (Sweden)

    Fernanda Bered

    2002-01-01

    Full Text Available The characterization of genetic variability and an estimate of the genetic relationship among varieties are essential to any breeding program, because artificial crosses among less similar parents allow a larger segregation and the combination of different favorable alleles. Genetic variability can be evaluated in different ways, including the Coefficient of Parentage (COP, which estimates the probability of two alleles in two different individuals being identical by descent. In this study, we evaluated the degree of genetic relationship among 53 wheat genotypes, and identified the ancestor genotypes which contributed the most to the current wheat germplasm, as a prediction of the width of the genetic base of this cereal. The results revealed a mean COP of 0.07 and the formation of 22 similarity groups. The ancestor genotypes Ciano 67 and Mentana were those which contributed the most to the current wheat germplasm. According to the COP analyses, the genetic base of wheat rests on a small number of ancestral genotypes.

  4. Genetics and southern African prehistory: an archaeological view.

    Science.gov (United States)

    Mitchell, Peter

    2010-01-01

    Southern African populations speaking languages that are often - but inaccurately - grouped together under the label 'Khoisan' are an important focus of molecular genetic research, not least in tracking the early stages of human genetic diversification. This paper reviews these studies from an archaeological standpoint, concentrating on modern human origins, the introduction of pastoralism to southern Africa and admixture between the region's indigenous foragers and incoming Bantu-speaking farmers. To minimise confusion and facilitate correlation with anthropological, linguistic and archaeological data it emphasises the need to use ethnolinguistic labels accurately and with due regard for the particular histories of individual groups. It also stresses the geographically and culturally biased nature of the genetic studies undertaken to date, which employ data from only a few 'Khoisan' groups. Specific topics for which the combined deployment of genetic and archaeological methods would be particularly useful include the early history of Ju-Hoan- and Tuu-speaking hunter-gatherers, the expansion of Khoe-speaking populations, the chronology of genetic exchange between hunter-gatherers and farmers, and the origins of the Sotho/Tswana- and Nguni-speaking populations that dominate much of southern Africa today.

  5. Genetic Variance in Homophobia: Evidence from Self- and Peer Reports.

    Science.gov (United States)

    Zapko-Willmes, Alexandra; Kandler, Christian

    2018-01-01

    The present twin study combined self- and peer assessments of twins' general homophobia targeting gay men in order to replicate previous behavior genetic findings across different rater perspectives and to disentangle self-rater-specific variance from common variance in self- and peer-reported homophobia (i.e., rater-consistent variance). We hypothesized rater-consistent variance in homophobia to be attributable to genetic and nonshared environmental effects, and self-rater-specific variance to be partially accounted for by genetic influences. A sample of 869 twins and 1329 peer raters completed a seven item scale containing cognitive, affective, and discriminatory homophobic tendencies. After correction for age and sex differences, we found most of the genetic contributions (62%) and significant nonshared environmental contributions (16%) to individual differences in self-reports on homophobia to be also reflected in peer-reported homophobia. A significant genetic component, however, was self-report-specific (38%), suggesting that self-assessments alone produce inflated heritability estimates to some degree. Different explanations are discussed.

  6. Multivariate Survival Mixed Models for Genetic Analysis of Longevity Traits

    DEFF Research Database (Denmark)

    Pimentel Maia, Rafael; Madsen, Per; Labouriau, Rodrigo

    2014-01-01

    A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented co...... applications. The methods presented are implemented in such a way that large and complex quantitative genetic data can be analyzed......A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented...... concentrates on longevity studies. The framework presented allows to combine models based on continuous time with models based on discrete time in a joint analysis. The continuous time models are approximations of the frailty model in which the hazard function will be assumed to be piece-wise constant...

  7. Multivariate Survival Mixed Models for Genetic Analysis of Longevity Traits

    DEFF Research Database (Denmark)

    Pimentel Maia, Rafael; Madsen, Per; Labouriau, Rodrigo

    2013-01-01

    A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented co...... applications. The methods presented are implemented in such a way that large and complex quantitative genetic data can be analyzed......A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented...... concentrates on longevity studies. The framework presented allows to combine models based on continuous time with models based on discrete time in a joint analysis. The continuous time models are approximations of the frailty model in which the hazard function will be assumed to be piece-wise constant...

  8. Reactor controller design using genetic algorithms with simulated annealing

    International Nuclear Information System (INIS)

    Erkan, K.; Buetuen, E.

    2000-01-01

    This chapter presents a digital control system for ITU TRIGA Mark-II reactor using genetic algorithms with simulated annealing. The basic principles of genetic algorithms for problem solving are inspired by the mechanism of natural selection. Natural selection is a biological process in which stronger individuals are likely to be winners in a competing environment. Genetic algorithms use a direct analogy of natural evolution. Genetic algorithms are global search techniques for optimisation but they are poor at hill-climbing. Simulated annealing has the ability of probabilistic hill-climbing. Thus, the two techniques are combined here to get a fine-tuned algorithm that yields a faster convergence and a more accurate search by introducing a new mutation operator like simulated annealing or an adaptive cooling schedule. In control system design, there are currently no systematic approaches to choose the controller parameters to obtain the desired performance. The controller parameters are usually determined by test and error with simulation and experimental analysis. Genetic algorithm is used automatically and efficiently searching for a set of controller parameters for better performance. (orig.)

  9. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Genetic Basis of Positive and Negative Symptom Domains in Schizophrenia.

    Science.gov (United States)

    Xavier, Rose Mary; Vorderstrasse, Allison

    2017-10-01

    Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile. Examining the genetic basis of schizophrenia subphenotypes, such as those based on particular symptoms, is thus a useful strategy for decoding the underlying mechanisms. This review of literature examines the recent advances (from 2011) in genetic exploration of positive and negative symptoms in schizophrenia. We searched electronic databases PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health Literature using key words schizophrenia, symptoms, positive symptoms, negative symptoms, cognition, genetics, genes, genetic predisposition, and genotype in various combinations. We identified 115 articles, which are included in the review. Evidence from these studies, most of which are genetic association studies, identifies shared and unique gene associations for the symptom domains. Genes associated with neurotransmitter systems and neuronal development/maintenance primarily constitute the shared associations. Needed are studies that examine the genetic basis of specific symptoms within the broader domains in addition to functional mechanisms. Such investigations are critical to developing precision treatment and care for individuals afflicted with schizophrenia.

  11. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno

    2001-06-01

    Full Text Available Recent reports have brought to public attention concerns about Bt corn and genetically modified organisms (GMO in general. The timing, it seems, is most appropriate considering two related developments early this year: the final approval of the Cartagena Protocol on Biosafety in Montreal on January 29, 2001, and the OECD Edinburgh Conference on GM food safety last February 28- March 1, 2001. The protocol makes clear that GMOs include all living modified organisms (LMO defined as "any living organism that possesses a novel combination of genetic material obtained through the use of modern biotechnology". This includes seeds, live fish, and other organisms intentionally obtained for release to the environment. It would seem that the common understanding about GMOs as referring to farm-to-table products is perforce expanded to embrace genetically modified farm animals and aquatic resources. Being a trade agreement, the Montreal accord primarily deals with the safety issues related to the transboundary movement of LMOs around the globe. The OECD conference on the other hand, called for an international body "to address all sides of the GM debate" in response to the public outcry, particularly in Western Europe, regarding the risks the new products pose to human health and the environment. Some points of contention, which remain unresolved, include issues such as whether countries should be allowed to develop their own GM food based on their needs, and whether a global moratorium on GMOs and mandatory labeling should be enforced worldwide.

  12. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

    NARCIS (Netherlands)

    C.M. Freitag (Christine); A.S. Butterworth (Adam); J. Willeit (Johann); J.M.M. Howson (Joanna M.M.); S. Burgess (Stephen); S. Kaptoge (Stephen); R. Young (Robin); W.K. Ho (Weang Kee); A.M. Wood (Angela); M. Sweeting (Michael); S. Spackman (Sarah); J.R. Staley (James R.); A. Ramond (Anna); E. Harshfield (Eric); S.F. Nielsen (Sune); P. Grande (Peer); L.A. Lange (Leslie); M.J. Bown (Matthew J.); G.T. Jones (Gregory); R.A. Scott (Robert); S. Bevan (Steve); E. Porcu (Eleonora); G. Thorleifsson (Gudmar); L. Zeng (Lingyao); T. Kessler (Thorsten); M. Nikpay (Majid); R. Do (Ron); W. Zhang (Weihua); J. Hopewell; M.E. Kleber (Marcus); G. Delgado; C.P. Nelson (Christopher P.); A. Goel (Anuj); J.C. Bis (Joshua); A. Dehghan (Abbas); S. Ligthart (Symen); G.D. Smith; L. Qu (Liming); F.N.G. Van 'T Hof (Femke); P.I.W. de Bakker (Paul); A.F. Baas (Annette); A.M. van Rij (Andre); G. Tromp (Gerard); H. Kuivaniemi (Helena); M.D. Ritchie (Marylyn D.); S.S. Verma (Shefali S.); D.C. Crawford (Dana); J. Malinowski (Jennifer); M. de Andrade (Mariza); I. Kullo (Iftikhar); P.L. Peissig (Peggy L.); C.A. McCarty (Catherine A.); E.P. Bottinger (Erwin); R.F. Gottesman (Rebecca); D.R. Crosslin (David); D.S. Carrell (David); L.J. Rasmussen-Torvik (Laura); J.A. Pacheco (Jennifer A.); J. Huang (Jie); N.J. Timpson (Nicholas); J. Kettunen (Johannes); M. Ala-Korpela (Mika); G.F. Mitchell (Gary); A. Parsa (Afshin); I.B. Wilkinson (Ian B.); M. Gorski (Mathias); Y. Li (Yong); N. Franceschini (Nora); M.F. Keller (Margaux); S.K. Ganesh (Santhi); C.D. Langefeld (Carl); L. Bruijn (Lucie); M.A. Brown (Matthew); D.M. Evans (David M.); S. Baltic (Svetlana); M.A. Ferreira (Manuel); H. Baurecht (Hansjörg); S. Weidinger (Stephan); A. Franke (Andre); S.A. Lubitz (Steven); M. Müller-Nurasyid (Martina); J.F. Felix (Janine); N.L. Smith (Nicholas); M. Sudman (Marc); S.D. Thompson (Susan D.); E. Zeggini (Eleftheria); K. Panoutsopoulou (Kalliope); M.A. Nalls (Michael); A. Singleton (Andrew); C. Polychronakos (Constantin); J.P. Bradfield (Jonathan); H. Hakonarson (Hakon); D.F. Easton (Douglas); D. Thompson (Deborah); I.P. Tomlinson (Ian); M. Dunlop (Malcolm); K. Hemminki (Kari); G. Morgan (Gareth); T. Eisen (Timothy); H. Goldschmidt (Hartmut); J.M. Allan (James); M. Henrion (Marc); N. Whiffin (Nicola); Y. Wang (Yufei); D. Chubb (Daniel); M.M. Iles (Mark M.); D.T. Bishop (David Timothy); M.H. Law (Matthew H.); N. Hayward (Nick); Y. Luo (Yang); S. Nejentsev (Sergey); M. Barbalic (maja); D. Crossman (David); S. Sanna (Serena); N. Soranzo (Nicole); H.S. Markus (Hugh); N.J. Wareham (Nick); D.J. Rader (Daniel); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); T.B. Harris (Tamara B.); A. Hofman (Albert); O.H. Franco (Oscar); V. Gudnason (Vilmundur); R.P. Tracy (Russell); B.M. Psaty (Bruce); M. Farrall (Martin); H. Watkins (Hugh); A.S. Hall (Alistair); N.J. Samani (Nilesh); W. März (Winfried); R. Clarke (Robert); F.S. Collins (Francis); J.S. Kooner (Jaspal S.); J.C. Chambers (John C.); S. Kathiresan (Sekar); R. McPherson (Ruth); J. Erdmann (Jeanette); A. Kastrati (Adnan); H. Schunkert (Heribert); J-A. Zwart (John-Anker); U. Thorsteinsdottir (Unnur); J. Walston (Jeremy); A. Tybjaerg-Hansen; D.S. Alam (Dewan S.); A. Al Shafi Majumder (Abdullah); E.D. Angelantonio (Emanuele Di); R. Chowdhury (Rajiv); B.G. Nordestgaard (Børge); D. Saleheen; S.G. Thompson (Simon); J. Danesh (John); R. Houlston (Richard)

    2015-01-01

    textabstractTo investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of

  13. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : A Mendelian randomisation analysis

    NARCIS (Netherlands)

    Freitag, Daniel; Butterworth, Adam S.; Willeit, Peter; Howson, Joanna M M; Burgess, Stephen; Kaptoge, Stephen; Young, Robin; Ho, Weang Kee; Wood, Angela M.; Sweeting, Michael; Spackman, Sarah; Staley, James R.; Ramond, Anna; Harshfield, Eric; Nielsen, Sune F.; Grande, Peer; Lange, Leslie A.; Bown, Matthew J.; Jones, Gregory T.; Scott, Robert A.; Bevan, Steve; Porcu, Eleonora; Thorleifsson, Gudmar; Zeng, Lingyao; Kessler, Thorsten; Nikpay, Majid; Do, Ron; Zhang, Weihua; Hopewell, Jemma C.; Kleber, Marcus; Delgado, Graciela E.; Nelson, Christopher P.; Goel, Anuj; Bis, Joshua C.; Dehghan, Abbas; Ligthart, Symen; Smith, Albert V.; Qu, Liming; van 't Hof, Femke N G; de Bakker, Paul I W; Baas, Annette F.; van Rij, Andre; Tromp, Gerard; Kuivaniemi, Helena; Ritchie, Marylyn D.; Verma, Shefali S.; Crawford, Dana C.; Malinowski, Jennifer; de Andrade, Mariza; Kullo, Iftikhar J.; Peissig, Peggy L.; McCarty, Catherine A.; Böttinger, Erwin P.; Gottesman, Omri; Crosslin, David R.; Carrell, David S.; Rasmussen-Torvik, Laura J.; Pacheco, Jennifer A.; Huang, Jie; Timpson, Nicholas J.; Kettunen, Johannes; Ala-Korpela, Mika; Mitchell, Gary F.; Parsa, Afshin; Wilkinson, Ian B.; Gorski, Mathias; Li, Yong; Franceschini, Nora; Keller, Margaux F.; Ganesh, Santhi K.; Langefeld, Carl D.; Bruijn, Lucie; Brown, Matthew A.; Evans, David M.; Baltic, Svetlana; Ferreira, Manuel A.; Baurecht, Hansjörg; Weidinger, Stephan; Franke, Andre; Lubitz, Steven A.; Müller-Nurasyid, Martina; Felix, Janine F.; Smith, Nicholas L.; Sudman, Marc; Thompson, Susan D.; Zeggini, Eleftheria; Panoutsopoulou, Kalliope; Nalls, Mike A.; Singleton, Andrew; Polychronakos, Constantin; Bradfield, Jonathan P.; Hakonarson, Hakon; Easton, Douglas F.; Thompson, Deborah; Tomlinson, Ian P.; Dunlop, Malcolm; Hemminki, Kari; Morgan, Gareth; Eisen, Timothy; Goldschmidt, Hartmut; Allan, James M.; Henrion, Marc; Whiffin, Nicola; Wang, Yufei; Chubb, Daniel; Iles, Mark M.; Bishop, D. Timothy; Law, Matthew H.; Hayward, Nicholas K.; Luo, Yang; Nejentsev, Sergey; Barbalic, Maja; Crossman, David; Sanna, Serena; Soranzo, Nicole; Markus, Hugh S.; Wareham, Nicholas J.; Rader, Daniel J.; Reilly, Muredach; Assimes, Themistocles; Harris, Tamara B.; Hofman, Albert; Franco, Oscar H.; Gudnason, Vilmundur; Tracy, Russell; Psaty, Bruce M.; Farrall, Martin; Watkins, Hugh; Hall, Alistair S.; Samani, Nilesh J.; März, Winfried; Clarke, Robert; Collins, Rory; Kooner, Jaspal S.; Chambers, John C.; Kathiresan, Sekar; McPherson, Ruth; Erdmann, Jeanette; Kastrati, Adnan; Schunkert, Heribert; Stefánsson, Kári; Thorsteinsdottir, Unnur; Walston, Jeremy D.; Tybjærg-Hansen, Anne; Alam, Dewan S.; Al Shafi Majumder, Abdullah; Angelantonio, Emanuele Di; Chowdhury, Rajiv; Nordestgaard, Børge G.; Saleheen, Danish; Thompson, Simon G.; Danesh, John; Houlston, Richard S.

    2015-01-01

    To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of two common

  14. Combined genetic effects of chemicals and radiation

    International Nuclear Information System (INIS)

    Kada, T.; Inoue, T.; Yokoiyama, A.; Russell, L.B.

    1979-01-01

    The interactions of chemicals and radiation are complex, and there may exist other unexpected patterns. The photodynamic induction of mutation by fluorescein dyes, and the radiosensitization with iodine compounds are classified as the interactions of chemicals and radiation outside cells. On the other hand, the antimutagenic effects of cobaltous chloride is concerned with the events taking place in the cells that had already been exposed to mutagenic agents. It is likely that the action of mutagenic agents is not direct, and that cellular functions, such as mutators or repair systems, are involved in the mutagenesis initiated by the agents. Such cellular functions can be affected by a second agent. In sexually reproducing organisms, two agents can also act on separate cells (male and female germ cells) which subsequently fuse. In mice, the experiments combining the radiation applied to one sex with the chemicals given to the other sex are only in early stages. Males were irradiated with X-ray (spermatozoa and spermatids sampled) and females (mature oocytes) were treated with caffeine. When the endpoint was dominant lethal, the level of X-ray effect induced in the male genome was independent of the caffeine treatment of the female. However, when the endpoint was sex-chromosome-loss, and a different strain of female was used, the caffeine potentiation was statistically significant at 5% level. (Yamashita, S.)

  15. Genetic relationships among alfalfa gemplasms resistant to common ...

    African Journals Online (AJOL)

    Genetic relationships among 26 alfalfa cultivars, of which, 12 were of high resistance to common leaf spot (CLS), were assessed using sequence-related amplified polymorphism (SRAP) markers. 34 SRAP primer combinations were selected for fingerprinting of these cultivars and a total of 281 bands were observed, among ...

  16. Learning from nuclear regulatory self-assessment. International peer review of the CSN report on lessons learnt from the essential service water system degradation event at the Vandellos nuclear power plant

    International Nuclear Information System (INIS)

    2006-01-01

    Nuclear regulatory self-assessment together with the benchmarking of regulatory practices against those of other countries operating nuclear power plants are key elements in maintaining a high level of nuclear safety. In that light, the Spanish Consejo de Seguridad Nuclear (CSN) formally asked the OECD Nuclear Energy Agency (NEA) to establish an international peer review team to assess the CSN report on the lessons learnt as a result of the 2004 Vandellos II event involving essential service water system degradation. The International Review Team considers the CSN report prepared in follow-up to the Vandellos event to be a commendable effort in regulatory self-assessment. The report, complemented by this international peer review, should enable the CSN to take appropriate action to ensure that its regulatory supervision is in line with best international practice. (authors)

  17. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  18. Combining phylogenetic and demographic inferences to assess the origin of the genetic diversity in an isolated wolf population.

    Directory of Open Access Journals (Sweden)

    Luca Montana

    Full Text Available The survival of isolated small populations is threatened by both demographic and genetic factors. Large carnivores declined for centuries in most of Europe due to habitat changes, overhunting of their natural prey and direct persecution. However, the current rewilding trends are driving many carnivore populations to expand again, possibly reverting the erosion of their genetic diversity. In this study we reassessed the extent and origin of the genetic variation of the Italian wolf population, which is expanding after centuries of decline and isolation. We genotyped wolves from Italy and other nine populations at four mtDNA regions (control-region, ATP6, COIII and ND4 and 39 autosomal microsatellites. Results of phylogenetic analyses and assignment procedures confirmed in the Italian wolves a second private mtDNA haplotype, which belongs to a haplogroup distributed mostly in southern Europe. Coalescent analyses showed that the unique mtDNA haplotypes in the Italian wolves likely originated during the late Pleistocene. ABC simulations concordantly showed that the extant wolf populations in Italy and in south-western Europe started to be isolated and declined right after the last glacial maximum. Thus, the standing genetic variation in the Italian wolves principally results from the historical isolation south of the Alps.

  19. Combining field performance with controlled environment plant imaging to identify the genetic control of growth and transpiration underlying yield response to water-deficit stress in wheat.

    Science.gov (United States)

    Parent, Boris; Shahinnia, Fahimeh; Maphosa, Lance; Berger, Bettina; Rabie, Huwaida; Chalmers, Ken; Kovalchuk, Alex; Langridge, Peter; Fleury, Delphine

    2015-09-01

    Crop yield in low-rainfall environments is a complex trait under multigenic control that shows significant genotype×environment (G×E) interaction. One way to understand and track this trait is to link physiological studies to genetics by using imaging platforms to phenotype large segregating populations. A wheat population developed from parental lines contrasting in their mechanisms of yield maintenance under water deficit was studied in both an imaging platform and in the field. We combined phenotyping methods in a common analysis pipeline to estimate biomass and leaf area from images and then inferred growth and relative growth rate, transpiration, and water-use efficiency, and applied these to genetic analysis. From the 20 quantitative trait loci (QTLs) found for several traits in the platform, some showed strong effects, accounting for between 26 and 43% of the variation on chromosomes 1A and 1B, indicating that the G×E interaction could be reduced in a controlled environment and by using dynamic variables. Co-location of QTLs identified in the platform and in the field showed a possible common genetic basis at some loci. Co-located QTLs were found for average growth rate, leaf expansion rate, transpiration rate, and water-use efficiency from the platform with yield, spike number, grain weight, grain number, and harvest index in the field. These results demonstrated that imaging platforms are a suitable alternative to field-based screening and may be used to phenotype recombinant lines for positional cloning. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  20. Genetic and bioinformatic analysis of 41C and the 2R heterochromatin of Drosophila melanogaster: a window on the heterochromatin-euchromatin junction.

    OpenAIRE

    Myster, Steven H; Wang, Fei; Cavallo, Robert; Christian, Whitney; Bhotika, Seema; Anderson, Charles T; Peifer, Mark

    2004-01-01

    Genomic sequences provide powerful new tools in genetic analysis, making it possible to combine classical genetics with genomics to characterize the genes in a particular chromosome region. These approaches have been applied successfully to the euchromatin, but analysis of the heterochromatin has lagged somewhat behind. We describe a combined genetic and bioinformatics approach to the base of the right arm of the Drosophila melanogaster second chromosome, at the boundary between pericentric h...

  1. Monitoring Species of Concern Using Noninvasive Genetic Sampling and Capture-Recapture Methods

    Science.gov (United States)

    2016-11-01

    RC-201205) Monitoring Species of Concern Using Noninvasive Genetic Sampling and Capture- Recapture Methods November 2016 This document has been...From - To) Apr 25 2012-Jan 31 2016 4. TITLE AND SUBTITLE Monitoring Species of Concern Using Noninvasive Genetic Sampling and Capture- Recapture...NGS-CR) modeling to evaluate the status of species of conservation concern . A secondary objective was to demonstrate the combination of NGS with

  2. Optimization of Pressurizer Based on Genetic-Simplex Algorithm

    International Nuclear Information System (INIS)

    Wang, Cheng; Yan, Chang Qi; Wang, Jian Jun

    2014-01-01

    Pressurizer is one of key components in nuclear power system. It's important to control the dimension in the design of pressurizer through optimization techniques. In this work, a mathematic model of a vertical electric heating pressurizer was established. A new Genetic-Simplex Algorithm (GSA) that combines genetic algorithm and simplex algorithm was developed to enhance the searching ability, and the comparison among modified and original algorithms is conducted by calculating the benchmark function. Furthermore, the optimization design of pressurizer, taking minimization of volume and net weight as objectives, was carried out considering thermal-hydraulic and geometric constraints through GSA. The results indicate that the mathematical model is agreeable for the pressurizer and the new algorithm is more effective than the traditional genetic algorithm. The optimization design shows obvious validity and can provide guidance for real engineering design

  3. Demonstrating safety: Lessons learnt by InSOTEC

    International Nuclear Information System (INIS)

    Kallenbach-Herbert, Beate; Brohmann, Bettina

    2014-01-01

    InSOTEC is a three-year collaborative social sciences research project funded under the European Atomic Energy Community's 7. Framework Programme FP7/2007-2011, under grant agreement no. 2699009.1 The project aims to generate a better understanding of the complex interplay between the technical and the social in radioactive waste management (RWM) and, in particular, in the context of the design and implementation of geological disposal. In doing so, InSOTEC wants to move beyond the social and technical division by treating RWM and geological disposal as 'socio-technical' challenges and in following the relationship and describing the context, one can identify the dependency as a socio-technical combination. InSOTEC focuses on situations and issues where the relationship between the technical and social components of geological disposal are still unstable, ambiguous or controversial, and where negotiations are taking place in terms of problem definitions and preferred solutions. Some concrete examples of socio-technical challenges are the question of siting and of introducing the notion of reversibility and retrievability or long-term repository monitoring into the concept of geological disposal. These examples show that the concept of geological disposal develops over time, not only because of evolutions in scientific knowledge, but also as a consequence of debates on how to implement this technology in the light of societal requirements. During the first year of the project, various research activities in the national context of InSOTEC partner countries as well as on the European and international levels contributed to the identification of the main socio-technical challenges in geological disposal. On this basis four topics were selected for in-depth analysis: - reversibility and retrievability; - demonstrating safety; - siting; - technology transfer; The aim of these analyses is to come to a better understanding of the relationships between social and technical

  4. Analysis of the genetic diversity of super sweet corn inbred lines using SSR and SSAP markers.

    Science.gov (United States)

    Ko, W R; Sa, K J; Roy, N S; Choi, H-J; Lee, J K

    2016-01-22

    In this study, we compared the efficiency of simple sequence repeat (SSR) and sequence specific amplified polymorphism (SSAP) markers for analyzing genetic diversity, genetic relationships, and population structure of 87 super sweet corn inbred lines from different origins. SSR markers showed higher average gene diversity and Shannon's information index than SSAP markers. To assess genetic relationships and characterize inbred lines using SSR and SSAP markers, genetic similarity (GS) matrices were constructed. The dendrogram using SSR marker data showed a complex pattern with nine clusters and a GS of 53.0%. For SSAP markers, three clusters were observed with a GS of 50.8%. Results of combined marker data showed six clusters with 53.5% GS. To analyze the genetic population structure of SSR and SSAP marker data, the 87 inbred lines were divided into groups I, II, and admixed based on the membership probability threshold of 0.8. Using combined marker data, the population structure was K = 3 and was divided into groups I, II, III, and admixed. This study represents a comparative analysis of SSR and SSAP marker data for the study of genetic diversity and genetic relationships in super sweet corn inbred lines. Our results would be useful for maize-breeding programs in Korea.

  5. Genetic variants of ghrelin in metabolic disorders.

    Science.gov (United States)

    Ukkola, Olavi

    2011-11-01

    An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

  6. Genetics: A New Landscape for Medical Geography

    Science.gov (United States)

    Carrel, Margaret; Emch, Michael

    2014-01-01

    The emergence and re-emergence of human pathogens resistant to medical treatment will present a challenge to the international public health community in the coming decades. Geography is uniquely positioned to examine the progressive evolution of pathogens across space and through time, and to link molecular change to interactions between population and environmental drivers. Landscape as an organizing principle for the integration of natural and cultural forces has a long history in geography, and, more specifically, in medical geography. Here, we explore the role of landscape in medical geography, the emergent field of landscape genetics, and the great potential that exists in the combination of these two disciplines. We argue that landscape genetics can enhance medical geographic studies of local-level disease environments with quantitative tests of how human-environment interactions influence pathogenic characteristics. In turn, such analyses can expand theories of disease diffusion to the molecular scale and distinguish the important factors in ecologies of disease that drive genetic change of pathogens. PMID:24558292

  7. Fluorescent genetic barcoding in mammalian cells for enhanced multiplexing capabilities in flow cytometry.

    Science.gov (United States)

    Smurthwaite, Cameron A; Hilton, Brett J; O'Hanlon, Ryan; Stolp, Zachary D; Hancock, Bryan M; Abbadessa, Darin; Stotland, Aleksandr; Sklar, Larry A; Wolkowicz, Roland

    2014-01-01

    The discovery of the green fluorescent protein from Aequorea victoria has revolutionized the field of cell and molecular biology. Since its discovery a growing panel of fluorescent proteins, fluorophores and fluorescent-coupled staining methodologies, have expanded the analytical capabilities of flow cytometry. Here, we exploit the power of genetic engineering to barcode individual cells with genes encoding fluorescent proteins. For genetic engineering, we utilize retroviral technology, which allows for the expression of ectopic genetic information in a stable manner in mammalian cells. We have genetically barcoded both adherent and nonadherent cells with different fluorescent proteins. Multiplexing power was increased by combining both the number of distinct fluorescent proteins, and the fluorescence intensity in each channel. Moreover, retroviral expression has proven to be stable for at least a 6-month period, which is critical for applications such as biological screens. We have shown the applicability of fluorescent barcoded multiplexing to cell-based assays that rely themselves on genetic barcoding, or on classical staining protocols. Fluorescent genetic barcoding gives the cell an inherited characteristic that distinguishes it from its counterpart. Once cell lines are developed, no further manipulation or staining is required, decreasing time, nonspecific background associated with staining protocols, and cost. The increasing number of discovered and/or engineered fluorescent proteins with unique absorbance/emission spectra, combined with the growing number of detection devices and lasers, increases multiplexing versatility, making fluorescent genetic barcoding a powerful tool for flow cytometry-based analysis. © 2013 International Society for Advancement of Cytometry.

  8. Liposarcoma or lipoma: Does genetics change classic imaging criteria?

    International Nuclear Information System (INIS)

    Bidault, F.; Vanel, D.; Terrier, Ph.; Jalaguier, A.; Bonvalot, S.; Pedeutour, F.; Couturier, J.M.; Dromain, C.

    2009-01-01

    Differentiating benign from malignant fatty tumours has always been very difficult for both radiologists and pathologists. Cytogenetic and molecular genetic analyses provide complementary tools for differentiating soft tissue tumours. Our objective was to compare imaging criteria of malignancy with a new diagnostic gold standard, namely, pathological analysis combined with cytogenetic and molecular genetic analyses. Nineteen patients with a fatty tumour were included. All had computed tomography and/or magnetic resonance imaging examination before any biopsy or surgery. All had histopathological and cytogenetic and/or molecular genetic analyses. The imaging diagnosis of benign or malignant lesions was accurate in 15 cases, with 4 false positives for malignancy. Erroneous criteria were a large size (4 cases), and a mass that was not purely fatty. In conclusion, the main pitfall for a false positive radiological diagnosis of liposarcoma is certainly a large-sized tumour. Cytogenetic and molecular genetic analyses contribute to the diagnosis and can be performed at the same time with a core biopsy.

  9. 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.

  10. What is there to be learnt from the 1950s and 1960s for contemporary trainee teachers in Further Education?

    Directory of Open Access Journals (Sweden)

    Parfitt, Anne

    2010-06-01

    Full Text Available In this paper, some stories of staff who became Further Education (FE lecturers during the 1950s and 1960s are reported upon. What emerges is that this period when FE was being established was heavily reliant on the imagination of the actors in their community settings. Moreover, these pioneers in the sector, often from strong occupational backgrounds but with limited formal qualifications, were employed because it was considered that they would be able to use their creative wisdom to forge the necessary links with local industry and other relevant stakeholders, so as to give the FE brand a high profile in its respective local communities. It is contended that in the current, most likely prolonged, period of austerity there is much to be drawn from these experiences of yesteryear, in that what is revealed in the following is very much a perspective that funding was not necessarily the be-all and end-all when these practitioners were endeavouring to deliver excellence. In particular, it is argued that lessons can be learnt from former times and thus, by recalling these and other such narratives and including them in FE lecturers’ Initial Teacher Training(ITT and ongoing Continuing Professional Development (CPD programmes, we may stimulate our imaginations in relation to how FE can be further integrated into the local setting, despite the aforementioned contemporary financial constraints.

  11. Support Vector Regression and Genetic Algorithm for HVAC Optimal Operation

    Directory of Open Access Journals (Sweden)

    Ching-Wei Chen

    2016-01-01

    Full Text Available This study covers records of various parameters affecting the power consumption of air-conditioning systems. Using the Support Vector Machine (SVM, the chiller power consumption model, secondary chilled water pump power consumption model, air handling unit fan power consumption model, and air handling unit load model were established. In addition, it was found that R2 of the models all reached 0.998, and the training time was far shorter than that of the neural network. Through genetic programming, a combination of operating parameters with the least power consumption of air conditioning operation was searched. Moreover, the air handling unit load in line with the air conditioning cooling load was predicted. The experimental results show that for the combination of operating parameters with the least power consumption in line with the cooling load obtained through genetic algorithm search, the power consumption of the air conditioning systems under said combination of operating parameters was reduced by 22% compared to the fixed operating parameters, thus indicating significant energy efficiency.

  12. Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics

    DEFF Research Database (Denmark)

    Koutnikova, Hana; Laakso, Markku; Lu, Lu

    2009-01-01

    complementarities of mouse and human genetic approaches, identifies the UBP1 locus as a critical blood pressure determinant. UBP1 plays a role in cholesterol and steroid metabolism via the transcriptional activation of CYP11A, the rate-limiting enzyme in pregnenolone and aldosterone biosynthesis. We suggest......Hypertension is a major health problem of largely unknown genetic origins. To identify new genes responsible for hypertension, genetic analysis of recombinant inbred strains of mice followed by human association studies might prove powerful and was exploited in our current study. Using a set of 27...... recombinant BXD strains of mice we identified a quantitative trait locus (QTL) for blood pressure (BP) on distal chromosome 9. The association analysis of markers encompassing the syntenic region on human chromosome 3 gave in an additive genetic model the strongest association for rs17030583 C/T and rs2291897...

  13. Semiochemical compounds of preen secretion reflect genetic make-up in a seabird species

    Science.gov (United States)

    Leclaire, S.; Merkling, T.; Raynaud, C.; Mulard, Hervé; Bessiere, J.-M.; Lhuillier, E.M.; Hatch, Shyla A.; Danchin, E.

    2012-01-01

    Several vertebrates choose their mate according to genetic heterozygosity and relatedness, and use odour cues to assess their conspecifics' genetic make-up. In birds, although several species (including the blacklegged kittiwake) exhibit non-random mating according to genetic traits, the cues used to assess genetic characteristics remain unknown. The importance of olfaction in birds' social behaviour is gaining attention among researchers, and it has been suggested that, as in other vertebrates, bird body scent may convey information about genetic traits. Here, we combined gas chromatography data and genetic analyses at microsatellite loci to test whether semiochemical messages in preen secretion of kittiwakes carried information about genetic heterozygosity and relatedness. Semiochemical profile was correlated with heterozygosity in males and females, while semiochemical distance was correlated with genetic distance only in male-male dyads. Our study is the first to demonstrate a link between odour and genetics in birds, which sets the stage for the existence of sophisticated odour-based mechanisms of mate choice also in birds. ?? 2011 The Royal Society.

  14. Combinations of SNP genotypes from the Wellcome Trust Case Control Study of bipolar patients

    DEFF Research Database (Denmark)

    Mellerup, Erling; Jørgensen, Martin Balslev; Dam, Henrik

    2018-01-01

    Objectives: Combinations of genetic variants are the basis for polygenic disorders. We examined combinations of SNP genotypes taken from the 446 729 SNPs in The Wellcome Trust Case Control Study of bipolar patients. Methods: Parallel computing by graphics processing units, cloud computing, and data...

  15. Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Jacobsen, Rune; Sørensen, Mette

    2013-01-01

    The analysis of age-specific genetic effects on human survival over extreme ages is confronted with a deceleration pattern in mortality that deviates from traditional survival models and sparse genetic data available. As human late life is a distinct phase of life history, exploring the genetic...... effects on extreme age survival can be of special interest to evolutionary biology and health science. We introduce a non-parametric survival analysis approach that combines population survival information with individual genotype data in assessing the genetic effects in cohort-based longitudinal studies...

  16. DataGenno: building a new tool to bridge molecular and clinical genetics

    Directory of Open Access Journals (Sweden)

    Fabricio F Costa

    2011-03-01

    Full Text Available Fabricio F Costa1,2, Luciano S Foly1, Marcelo P Coutinho11DataGenno Interactive Research Ltd., Itaperuna, Rio de Janeiro, Brazil; 2Cancer Biology and Epigenomics Program, Children's Memorial Research Center, Northwestern University's Feinberg School of Medicine, Chicago, IL, USAAbstract: Clinical genetics is one of the most challenging fields in medicine, with thousands of children born every year with congenital defects that have no satisfactory diagnosis. There are more than 6,000 known single-gene disorders that can cause birth defects or diseases in approximately 1 in every 200 births. Clinical and molecular information on genetic diseases and syndromes are widespread in the literature, and there are few databases combining this information. Therefore, it is very challenging for health care professionals and researchers to translate the latest advances in science and medicine into effective clinical interventions and new treatments. In order to overcome this obstacle and promote networking, we are building DataGenno, an online medical and scientific portal. DataGenno has been developed to be a source of information on genetic diseases and syndromes for the needs of all heath care professionals and researchers. Our database will be able to integrate both clinical and molecular aspects of genetic diseases in a fully interactive environment. DataGenno’s system already contains clinical and molecular information for 300 diseases, with approximately 6,000 signs and symptoms of these diseases in a database combined with a search engine. Our main goal is to cover all genetic diseases described to date, providing not only clinical information such as morphological and anatomical features but also the most comprehensive molecular genetics/genomics features and available testing information. We are also developing ways to connect DataGenno’s portal with Electronic Health Records in order to improve the efficiency of patient care. Additionally

  17. Genetic and epidemiological aspect of Complex Regional Pain Syndrome

    NARCIS (Netherlands)

    Rooij, Annetje Monique de

    2010-01-01

    Complex Regional Pain Syndrome (CRPS) is a painful disorder affecting one or more extremities. CRPS is characterized by various combinations of sensory, autonomic and motor disturbances. Genetic factors are suggested to play a role in CRPS, but this has not been extensively studied. Therefore the

  18. A Systems Genetic Approach to Identify Low Dose Radiation-Induced Lymphoma Susceptibility/DOE2013FinalReport

    Energy Technology Data Exchange (ETDEWEB)

    Balmain, Allan [University of California, San Francisco; Song, Ihn Young [University of California, San Francisco

    2013-05-15

    The ultimate goal of this project is to identify the combinations of genetic variants that confer an individual's susceptibility to the effects of low dose (0.1 Gy) gamma-radiation, in particular with regard to tumor development. In contrast to the known effects of high dose radiation in cancer induction, the responses to low dose radiation (defined as 0.1 Gy or less) are much less well understood, and have been proposed to involve a protective anti-tumor effect in some in vivo scientific models. These conflicting results confound attempts to develop predictive models of the risk of exposure to low dose radiation, particularly when combined with the strong effects of inherited genetic variants on both radiation effects and cancer susceptibility. We have used a Systems Genetics approach in mice that combines genetic background analysis with responses to low and high dose radiation, in order to develop insights that will allow us to reconcile these disparate observations. Using this comprehensive approach we have analyzed normal tissue gene expression (in this case the skin and thymus), together with the changes that take place in this gene expression architecture a) in response to low or high- dose radiation and b) during tumor development. Additionally, we have demonstrated that using our expression analysis approach in our genetically heterogeneous/defined radiation-induced tumor mouse models can uniquely identify genes and pathways relevant to human T-ALL, and uncover interactions between common genetic variants of genes which may lead to tumor susceptibility.

  19. Pesticide leaching through sandy and loamy fields – Long-term lessons learnt from the Danish Pesticide Leaching Assessment Programme

    International Nuclear Information System (INIS)

    Rosenbom, Annette E.; Olsen, Preben; Plauborg, Finn; Grant, Ruth; Juhler, René K.; Brüsch, Walter; Kjær, Jeanne

    2015-01-01

    The European Union authorization procedure for pesticides includes an assessment of the leaching risk posed by pesticides and their degradation products (DP) with the aim of avoiding any unacceptable influence on groundwater. Twelve-year's results of the Danish Pesticide Leaching Assessment Programme reveal shortcomings to the procedure by having assessed leaching into groundwater of 43 pesticides applied in accordance with current regulations on agricultural fields, and 47 of their DP. Three types of leaching scenario were not fully captured by the procedure: long-term leaching of DP of pesticides applied on potato crops cultivated in sand, leaching of strongly sorbing pesticides after autumn application on loam, and leaching of various pesticides and their DP following early summer application on loam. Rapid preferential transport that bypasses the retardation of the plow layer primarily in autumn, but also during early summer, seems to dominate leaching in a number of those scenarios. - Highlights: • Field-results reveal shortcomings in the EU authorization procedure for pesticides. • The plough layer can be bypassed via preferential transport in e.g. wormholes. • Pesticides properties are decisive for leaching pattern on the sandy fields. • The hydrogeological settings control the leaching patterns on the loamy fields. • Pesticide detection frequency seems to be independent of the month of the year. - Long-term lessons learnt from the Danish Pesticide Leaching Assessment Programme reveals shortcomings in the European Union authorization procedure for pesticides

  20. Preimplantation Genetic Diagnosis in Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    N. F. Vlahos

    2013-01-01

    Full Text Available Marfan syndrome (MFS is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (COH, in vitro fertilization (IVF combined with preimplantation genetic diagnosis (PGD, and a singleton pregnancy with positive fetal heart rate was revealed. At 34 weeks’ gestation she delivered vaginally a healthy premature male infant weighting 2440 gr. The patient remained asymptomatic during pregnancy, delivery, and 3 months postpartum. It is has to be mentioned that the availability of PGD is essential to prevent the transmission of disease to the next generation.

  1. The genetic component of human longevity

    DEFF Research Database (Denmark)

    Dato, Serena; Thinggaard, Mette Sørensen; De Rango, Francesco

    2018-01-01

    In human longevity studies, single nucleotide polymorphism (SNP) analysis identified a large number of genetic variants with small effects, yet not easily replicable in different populations. New insights may come from the combined analysis of different SNPs, especially when grouped by metabolic...... pathway. We applied this approach to study the joint effect on longevity of SNPs belonging to three candidate pathways, the insulin/insulin-like growth factor signalling (IIS), DNA repair and pro/antioxidant. We analysed data from 1,058 tagging SNPs in 140 genes, collected in 1825 subjects (1......, was further found influencing longitudinal survival in nonagenarian females (p = .026). Results here presented highlight the validity of SNP-SNP interactions analyses for investigating the genetics of human longevity, confirming previously identified markers but also pointing to novel genes as central nodes...

  2. Induced polygenic variability using combination treatment of gamma ...

    African Journals Online (AJOL)

    Induced mutation in plant improvement has been proven to be one of the alternative ways to generate new sources of genetic variation in blackgram. In this study, dry seeds of VBN 4 blackgram were treated with combination treatment of both gamma rays (400, 500 and 600 Gy) and ethyl methane sulphonate (EMS) (50, ...

  3. Genetic Structure in a Small Pelagic Fish Coincides with a Marine Protected Area: Seascape Genetics in Patagonian Fjords.

    Directory of Open Access Journals (Sweden)

    Cristian B Canales-Aguirre

    Full Text Available Marine environmental variables can play an important role in promoting population genetic differentiation in marine organisms. Although fjord ecosystems have attracted much attention due to the great oscillation of environmental variables that produce heterogeneous habitats, species inhabiting this kind of ecosystem have received less attention. In this study, we used Sprattus fuegensis, a small pelagic species that populates the inner waters of the continental shelf, channels and fjords of Chilean Patagonia and Argentina, as a model species to test whether environmental variables of fjords relate to population genetic structure. A total of 282 individuals were analyzed from Chilean Patagonia with eight microsatellite loci. Bayesian and non-Bayesian analyses were conducted to describe the genetic variability of S. fuegensis and whether it shows spatial genetic structure. Results showed two well-differentiated genetic clusters along the Chilean Patagonia distribution (i.e. inside the embayment area called TicToc, and the rest of the fjords, but no spatial isolation by distance (IBD pattern was found with a Mantel test analysis. Temperature and nitrate were correlated to the expected heterozygosities and explained the allelic frequency variation of data in the redundancy analyses. These results suggest that the singular genetic differences found in S. fuegensis from inside TicToc Bay (East of the Corcovado Gulf are the result of larvae retention bya combination of oceanographic mesoscale processes (i.e. the west wind drift current reaches the continental shelf exactly in this zone, and the local geographical configuration (i.e. embayment area, islands, archipelagos. We propose that these features generated an isolated area in the Patagonian fjords that promoted genetic differentiation by drift and a singular biodiversity, adding support to the existence of the largest marine protected area (MPA of continental Chile, which is the Tic-Toc MPA.

  4. Genetic Structure in a Small Pelagic Fish Coincides with a Marine Protected Area: Seascape Genetics in Patagonian Fjords.

    Science.gov (United States)

    Canales-Aguirre, Cristian B; Ferrada-Fuentes, Sandra; Galleguillos, Ricardo; Hernández, Cristián E

    2016-01-01

    Marine environmental variables can play an important role in promoting population genetic differentiation in marine organisms. Although fjord ecosystems have attracted much attention due to the great oscillation of environmental variables that produce heterogeneous habitats, species inhabiting this kind of ecosystem have received less attention. In this study, we used Sprattus fuegensis, a small pelagic species that populates the inner waters of the continental shelf, channels and fjords of Chilean Patagonia and Argentina, as a model species to test whether environmental variables of fjords relate to population genetic structure. A total of 282 individuals were analyzed from Chilean Patagonia with eight microsatellite loci. Bayesian and non-Bayesian analyses were conducted to describe the genetic variability of S. fuegensis and whether it shows spatial genetic structure. Results showed two well-differentiated genetic clusters along the Chilean Patagonia distribution (i.e. inside the embayment area called TicToc, and the rest of the fjords), but no spatial isolation by distance (IBD) pattern was found with a Mantel test analysis. Temperature and nitrate were correlated to the expected heterozygosities and explained the allelic frequency variation of data in the redundancy analyses. These results suggest that the singular genetic differences found in S. fuegensis from inside TicToc Bay (East of the Corcovado Gulf) are the result of larvae retention bya combination of oceanographic mesoscale processes (i.e. the west wind drift current reaches the continental shelf exactly in this zone), and the local geographical configuration (i.e. embayment area, islands, archipelagos). We propose that these features generated an isolated area in the Patagonian fjords that promoted genetic differentiation by drift and a singular biodiversity, adding support to the existence of the largest marine protected area (MPA) of continental Chile, which is the Tic-Toc MPA.

  5. Assessment of genetic diversity in Chinese eared pheasant using fluorescent-AFLP markers

    DEFF Research Database (Denmark)

    Li, Xiujuan; Zhu, Yaohong; Liu, Panqi

    2010-01-01

    on the list of the world’s threatened species. In this paper, 74 individuals from the four eared pheasant species were assessed for population genetic diversity by means of fluorescent-AFLP markers. A total of 429 AFLP peaks were amplified by 11 pairs of fluorescent EcoRI/TaqI primer combinations. Out of all...... using Jaccard’s similarity coefficients (SC) and the corresponding dendrogram. It was found that there was a moderate genetic distance between the four species (SC = 0.674–0.832). Brown eared pheasant was genetically closely related to blue eared pheasant (SC = 0.832), while white eared pheasant...

  6. Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.

    Science.gov (United States)

    Riley, Jacquelyn D; Procop, Gary W; Kottke-Marchant, Kandice; Wyllie, Robert; Lacbawan, Felicitas L

    2015-05-01

    The ordering of molecular genetic tests by health providers not well trained in genetics may have a variety of untoward effects. These include the selection of inappropriate tests, the ordering of panels when the assessment of individual or fewer genes would be more appropriate, inaccurate result interpretation and inappropriate patient guidance, and significant unwarranted cost expenditure. We sought to improve the utilization of molecular genetic tests by requiring providers without specialty training in genetics to use genetic counselors and molecular genetic pathologists to assist in test selection. We used a genetic and genomic test review process wherein the laboratory-based genetic counselor performed the preanalytic assessment of test orders and test triage. Test indication and clinical findings were evaluated against the test panel composition, methods, and test limitations under the supervision of the molecular genetic pathologist. These test utilization management efforts resulted in a decrease in genetic test ordering and a gross cost savings of $1,531,913 since the inception of these programs in September 2011 through December 2013. The combination of limiting the availability of complex genetic tests and providing guidance regarding appropriate test strategies is an effective way to improve genetic tests, contributing to judicious use of limited health care resources. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  7. Eco-genetic modeling of contemporary life-history evolution.

    Science.gov (United States)

    Dunlop, Erin S; Heino, Mikko; Dieckmann, Ulf

    2009-10-01

    We present eco-genetic modeling as a flexible tool for exploring the course and rates of multi-trait life-history evolution in natural populations. We build on existing modeling approaches by combining features that facilitate studying the ecological and evolutionary dynamics of realistically structured populations. In particular, the joint consideration of age and size structure enables the analysis of phenotypically plastic populations with more than a single growth trajectory, and ecological feedback is readily included in the form of density dependence and frequency dependence. Stochasticity and life-history trade-offs can also be implemented. Critically, eco-genetic models permit the incorporation of salient genetic detail such as a population's genetic variances and covariances and the corresponding heritabilities, as well as the probabilistic inheritance and phenotypic expression of quantitative traits. These inclusions are crucial for predicting rates of evolutionary change on both contemporary and longer timescales. An eco-genetic model can be tightly coupled with empirical data and therefore may have considerable practical relevance, in terms of generating testable predictions and evaluating alternative management measures. To illustrate the utility of these models, we present as an example an eco-genetic model used to study harvest-induced evolution of multiple traits in Atlantic cod. The predictions of our model (most notably that harvesting induces a genetic reduction in age and size at maturation, an increase or decrease in growth capacity depending on the minimum-length limit, and an increase in reproductive investment) are corroborated by patterns observed in wild populations. The predicted genetic changes occur together with plastic changes that could phenotypically mask the former. Importantly, our analysis predicts that evolutionary changes show little signs of reversal following a harvest moratorium. This illustrates how predictions offered by

  8. German politics of genetic engineering and its deconstruction.

    Science.gov (United States)

    Gottweis, H

    1995-05-01

    Policy-making, as exemplified by biotechnology policy, can be understood as an attempt to manage a field of discursivity, to construct regularity in a dispersed multitude of combinable elements. Following this perspective of politics as a textual process, the paper interprets the politicization of genetic engineering in Germany as a defence of the political as a regime of heterogeneity, as a field of 'dissensus' rather than 'consensus', and a rejection of the idea that the framing of technological transformation is an autonomous process. From its beginning in the early 1970s, genetic engineering was symbolically entrenched as a key technology of the future, and as an integral element of the German politics of modernization. Attempts by new social movements and the Green Party to displace the egalitarian imaginary of democratic discourse into the politics of genetic engineering were construed by the political élites as an attack on the political order of post-World War II Germany. The 1990 Genetic Engineering Law attempted a closure of this controversy. But it is precisely the homogenizing idiom of this 'settlement' which continues to nourish the social movements and their radical challenge to the definitions and codings of the politics of genetic engineering.

  9. Invited commentary: genetic variants and individual- and societal-level risk factors.

    Science.gov (United States)

    Coughlin, Steven S

    2010-01-01

    Over the past decade, leading epidemiologists have noted the importance of social factors in studying and understanding the distribution and determinants of disease in human populations; but to what extent are epidemiologic studies integrating genetic information and other biologic variables with information about individual-level risk factors and group-level or societal factors related to the broader residential, behavioral, or cultural context? There remains a need to consider ways to integrate genetic information with social and contextual information in epidemiologic studies, partly to combat the overemphasis on the importance of genetic factors as determinants of disease in human populations. Even in genome-wide association studies of coronary heart disease and other common complex diseases, only a small proportion of heritability is explained by the genetic variants identified to date. It is possible that familial clustering due to genetic factors has been overestimated and that important environmental or social influences (acting alone or in combination with genetic variants) have been overlooked. The accompanying article by Bressler et al. (Am J Epidemiol. 2010;171(1):14-23) highlights some of these important issues.

  10. Research on NC laser combined cutting optimization model of sheet metal parts

    Science.gov (United States)

    Wu, Z. Y.; Zhang, Y. L.; Li, L.; Wu, L. H.; Liu, N. B.

    2017-09-01

    The optimization problem for NC laser combined cutting of sheet metal parts was taken as the research object in this paper. The problem included two contents: combined packing optimization and combined cutting path optimization. In the problem of combined packing optimization, the method of “genetic algorithm + gravity center NFP + geometric transformation” was used to optimize the packing of sheet metal parts. In the problem of combined cutting path optimization, the mathematical model of cutting path optimization was established based on the parts cutting constraint rules of internal contour priority and cross cutting. The model played an important role in the optimization calculation of NC laser combined cutting.

  11. Key Issues in Essential Tremor Genetics Research: Where Are We Now and How Can We Move Forward?

    Directory of Open Access Journals (Sweden)

    Claudia M. Testa

    2013-03-01

    Full Text Available Genetics research is an avenue towards understanding essential tremor (ET. Advances have been made in genetic linkage and association: there are three reported ET susceptibility loci, and mixed but growing data on risk associations. However, causal mutations have not been forthcoming. This disappointing lack of progress has opened productive discussions on challenges in ET genetics research, including fundamental assumptions in the field. This article reviews the ET genetics literature, results to date, the open questions in ET genetics and the current challenges in addressing them. Several inherent ET features complicate genetic linkage and association studies: high potential phenocopy rates, inaccurate tremor self-reporting, and ET misdiagnoses are examples. Increasing use of direct exam data for subjects, family members and controls is one current response. Smaller moves towards expanding ET phenotype research concepts into non-tremor features, clinically disputed ET subsets, and testing phenotype features instead of clinical diagnosis against genetic data are gradually occurring. The field has already moved to considering complex trait mechanisms requiring detection of combinations of rare genetic variants. Hypotheses may move further to consider novel mechanisms of inheritance, such as epigenetic. It is an exciting time in ET genetics as investigators start moving past assumptions underlying both phenotype and genetics experimental contributions, overcoming challenges to collaboration, and engaging the ET community. Multicenter collaborative efforts comprising rich longitudinal prospective phenotype data and neuropathologic analysis combined with the latest in genetics experimental design and technology will be the next wave in the field.

  12. Combining Induced Pluripotent Stem Cells and Genome Editing Technologies for Clinical Applications.

    Science.gov (United States)

    Chang, Chia-Yu; Ting, Hsiao-Chien; Su, Hong-Lin; Jeng, Jing-Ren

    2018-01-01

    In this review, we introduce current developments in induced pluripotent stem cells (iPSCs), site-specific nuclease (SSN)-mediated genome editing tools, and the combined application of these two novel technologies in biomedical research and therapeutic trials. The sustainable pluripotent property of iPSCs in vitro not only provides unlimited cell sources for basic research but also benefits precision medicines for human diseases. In addition, rapidly evolving SSN tools efficiently tailor genetic manipulations for exploring gene functions and can be utilized to correct genetic defects of congenital diseases in the near future. Combining iPSC and SSN technologies will create new reliable human disease models with isogenic backgrounds in vitro and provide new solutions for cell replacement and precise therapies.

  13. Combined amplification and hybridization techniques for genome scanning in vegetatively propagated crops

    International Nuclear Information System (INIS)

    Kahl, G.; Ramser, J.; Terauchi, R.; Lopez-Peralta, C.; Asemota, H.N.; Weising, K.

    1998-01-01

    A combination of PCR- and hybridization-based genome scanning techniques and sequence comparisons between non-coding chloroplast DNA flanking tRNA genes has been employed to screen Dioscorea species for intra- and interspecific genetic diversity. This methodology detected extensive polymorphisms within Dioscorea bulbifera L., and revealed taxonomic and phylogenetic relationships among cultivated Guinea yams varieties and their potential wild progenitors. Finally, screening of yam germplasm grown in Jamaica permitted reliable discrimination between all major cultivars. Genome scanning by micro satellite-primed PCR (MP-PCR) and random amplified polymorphic DNA (RAPD) analysis in combination with the novel random amplified micro satellite polymorphisms (RAMPO) hybridization technique has shown high potential for the genetic analysis of yams, and holds promise for other vegetatively propagated orphan crops. (author)

  14. Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

    Science.gov (United States)

    Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E

    2018-02-01

    PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

  15. Present, past and future of the European rock fern Asplenium fontanum: combining distribution modelling and population genetics to study the effect of climate change on geographic range and genetic diversity.

    Science.gov (United States)

    Bystriakova, Nadia; Ansell, Stephen W; Russell, Stephen J; Grundmann, Michael; Vogel, Johannes C; Schneider, Harald

    2014-02-01

    Climate change is expected to alter the geographic range of many plant species dramatically. Predicting this response will be critical to managing the conservation of plant resources and the effects of invasive species. The aim of this study was to predict the response of temperate homosporous ferns to climate change. Genetic diversity and changes in distribution range were inferred for the diploid rock fern Asplenium fontanum along a South-North transect, extending from its putative last glacial maximum (LGM) refugia in southern France towards southern Germany and eastern-central France. This study reconciles observations from distribution models and phylogeographic analyses derived from plastid and nuclear diversity. Genetic diversity distribution and niche modelling propose that genetic diversity accumulates in the LGM climate refugium in southern France with the formation of a diversity gradient reflecting a slow, post-LGM range expansion towards the current distribution range. Evidence supports the fern's preference for outcrossing, contradicting the expectation that homosporous ferns would populate new sites by single-spore colonization. Prediction of climate and distribution range change suggests that a dramatic loss of range and genetic diversity in this fern is possible. The observed migration is best described by the phalanx expansion model. The results suggest that homosporous ferns reproducing preferentially by outcrossing accumulate genetic diversity primarily in LGM climate refugia and may be threatened if these areas disappear due to global climate change.

  16. Selection on Optimal Haploid Value Increases Genetic Gain and Preserves More Genetic Diversity Relative to Genomic Selection

    OpenAIRE

    Daetwyler, Hans D.; Hayden, Matthew J.; Spangenberg, German C.; Hayes, Ben J.

    2015-01-01

    Doubled haploids are routinely created and phenotypically selected in plant breeding programs to accelerate the breeding cycle. Genomic selection, which makes use of both phenotypes and genotypes, has been shown to further improve genetic gain through prediction of performance before or without phenotypic characterization of novel germplasm. Additional opportunities exist to combine genomic prediction methods with the creation of doubled haploids. Here we propose an extension to genomic selec...

  17. 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.

  18. Biochemistry and genetics of inositol phosphate metabolism in Dictyostelium

    NARCIS (Netherlands)

    vanHaastert, PJM; van Dijken, P.

    1997-01-01

    Biochemical and genetic data on the metabolism of inositol phosphates in the microorganism Dictyostelium are combined in a scheme composed of in five subroutes. The first subroute is the inositol cycle as found in other organisms:inositol is incorporated into phospholipids that are hydrolysed by PLC

  19. Critical roles for a genetic code alteration in the evolution of the genus Candida.

    Science.gov (United States)

    Silva, Raquel M; Paredes, João A; Moura, Gabriela R; Manadas, Bruno; Lima-Costa, Tatiana; Rocha, Rita; Miranda, Isabel; Gomes, Ana C; Koerkamp, Marian J G; Perrot, Michel; Holstege, Frank C P; Boucherie, Hélian; Santos, Manuel A S

    2007-10-31

    During the last 30 years, several alterations to the standard genetic code have been discovered in various bacterial and eukaryotic species. Sense and nonsense codons have been reassigned or reprogrammed to expand the genetic code to selenocysteine and pyrrolysine. These discoveries highlight unexpected flexibility in the genetic code, but do not elucidate how the organisms survived the proteome chaos generated by codon identity redefinition. In order to shed new light on this question, we have reconstructed a Candida genetic code alteration in Saccharomyces cerevisiae and used a combination of DNA microarrays, proteomics and genetics approaches to evaluate its impact on gene expression, adaptation and sexual reproduction. This genetic manipulation blocked mating, locked yeast in a diploid state, remodelled gene expression and created stress cross-protection that generated adaptive advantages under environmental challenging conditions. This study highlights unanticipated roles for codon identity redefinition during the evolution of the genus Candida, and strongly suggests that genetic code alterations create genetic barriers that speed up speciation.

  20. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

    Science.gov (United States)

    Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat

    2015-06-01

    To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.

  1. A GUIDED SWAT MODEL APPLICATION ON SEDIMENT YIELD MODELING IN PANGANI RIVER BASIN: LESSONS LEARNT

    Directory of Open Access Journals (Sweden)

    Preksedis Marco Ndomba

    2008-12-01

    Full Text Available The overall objective of this paper is to report on the lessons learnt from applying Soil and Water Assessment Tool (SWAT in a well guided sediment yield modelling study. The study area is the upstream of Pangani River Basin (PRB, the Nyumba Ya Mungu (NYM reservoir catchment, located in the North Eastern part of Tanzania. It should be noted that, previous modeling exercises in the region applied SWAT with preassumption that inter-rill or sheet erosion was the dominant erosion type. In contrast, in this study SWAT model application was guided by results of analysis of high temporal resolution of sediment flow data and hydro-meteorological data. The runoff component of the SWAT model was calibrated from six-years (i.e. 1977–1982 of historical daily streamflow data. The sediment component of the model was calibrated using one-year (1977–1988 daily sediment loads estimated from one hydrological year sampling programme (between March and November, 2005 rating curve. A long-term period over 37 years (i.e. 1969–2005 simulation results of the SWAT model was validated to downstream NYM reservoir sediment accumulation information. The SWAT model captured 56 percent of the variance (CE and underestimated the observed daily sediment loads by 0.9 percent according to Total Mass Control (TMC performance indices during a normal wet hydrological year, i.e., between November 1, 1977 and October 31, 1978, as the calibration period. SWAT model predicted satisfactorily the long-term sediment catchment yield with a relative error of 2.6 percent. Also, the model has identified erosion sources spatially and has replicated some erosion processes as determined in other studies and field observations in the PRB. This result suggests that for catchments where sheet erosion is dominant SWAT model may substitute the sediment-rating curve. However, the SWAT model could not capture the dynamics of sediment load delivery in some seasons to the catchment outlet.

  2. A GUIDED SWAT MODEL APPLICATION ON SEDIMENT YIELD MODELING IN PANGANI RIVER BASIN: LESSONS LEARNT

    Directory of Open Access Journals (Sweden)

    Preksedis M. Ndomba

    2008-01-01

    Full Text Available The overall objective of this paper is to report on the lessons learnt from applying Soil and Water Assessment Tool (SWAT in a well guided sediment yield modelling study. The study area is the upstream of Pangani River Basin (PRB, the Nyumba Ya Mungu (NYM reservoir catchment, located in the North Eastern part of Tanzania. It should be noted that, previous modeling exercises in the region applied SWAT with preassumption that inter-rill or sheet erosion was the dominant erosion type. In contrast, in this study SWAT model application was guided by results of analysis of high temporal resolution of sediment flow data and hydro-meteorological data. The runoff component of the SWAT model was calibrated from six-years (i.e. 1977¿1982 of historical daily streamflow data. The sediment component of the model was calibrated using one-year (1977-1988 daily sediment loads estimated from one hydrological year sampling programme (between March and November, 2005 rating curve. A long-term period over 37 years (i.e. 1969-2005 simulation results of the SWAT model was validated to downstream NYM reservoir sediment accumulation information. The SWAT model captured 56 percent of the variance (CE and underestimated the observed daily sediment loads by 0.9 percent according to Total Mass Control (TMC performance indices during a normal wet hydrological year, i.e., between November 1, 1977 and October 31, 1978, as the calibration period. SWAT model predicted satisfactorily the long-term sediment catchment yield with a relative error of 2.6 percent. Also, the model has identified erosion sources spatially and has replicated some erosion processes as determined in other studies and field observations in the PRB. This result suggests that for catchments where sheet erosion is dominant SWAT model may substitute the sediment-rating curve. However, the SWAT model could not capture the dynamics of sediment load delivery in some seasons to the catchment outlet.

  3. MICROSATELLITE GENETIC VARIATION IN CULTURED POPULATIONS OF AFRICAN CATFISH (Clarias gariepinus IN INDONESIA

    Directory of Open Access Journals (Sweden)

    Imron Imron

    2011-06-01

    Full Text Available African catfish, Clarias gariepinus, is one of economically important farmed species in Indonesia. To support the development of aquaculture industry, high genetic quality of both broodstock and seeds is required and breeding program is considered as viable option. Information on genetic variation of the populations being considered to form a base population may give insight toward the appropriate strategy to be implemented in breeding program. This study was aimed to assess genetic variation in farmed populations of catfish in Indonesia using microsatellite markers with special emphasis on their use to develop breeding program. Three populations of farmed catfish, namely Dumbo, Paiton, and Sangkuriang were collected. Fifteen individuals representing each population were screened for microsatellite variability using seven primer sets (cga01, cga02, cga03, cga05, cga06, cga09, cga10. Results found that with exception of two loci (cga01 and cg02 which had a slight increase, the other four loci showed reduction in the number of alleles ranging from 35% to 80% depending on loci. Farmed populations also showed heterozygote deficient and inbreeding level, being the highest was found in Sangkuriang and the least was observed in Dumbo population. Individuals within populations contributed most (95% while interpopulation variation accounted for only 5% of the total genetic variation. Populations of Dumbo and Sangkuriang were genetically similar while populations of Paiton were genetically different from both Dumbo and Sangkuriang. Viewed from genetic perspective, by combining all information emerging from this study, the best possible strategy to establish a base population with broad genetic base and less inbreeding would be to combine all the populations into a synthetic base population.

  4. Characterization of genetic diversity of bird-of-paradise accessions

    Directory of Open Access Journals (Sweden)

    Alessandro Aparecido Brito dos Santos

    2018-04-01

    Full Text Available This study aimed to characterize genetic diversity in the bird-of-paradise (Strelitzia reginae collection at the Universidade do Estado de Mato Grosso Carlos Alberto Reyes Maldonado (UNEMAT by estimating genetic divergence among genotypes based on agronomic characteristics. Seven agronomic characters were evaluated with average Euclidean distance. The UPGMA (Unweighted Pair Group Method with Arithmetic Mean hierarchical clustering method was used between groups, as well as Tocher’s optimization clustering method and principal component analysis (PCA, in order to classify the genotypes with maximum similarity between groups. Measures of genetic dissimilarity with average Euclidean distance verified the existence of genetic variability among accessions since the amplitude of dissimilarity values ranged from 1.09 to 36.97. Tocher’s clustering method verified the formation of two distinct groups. UPGMA hierarchical clustering, based on the dissimilarity matrix, verified the formation of three groups with 30% cutoff point. Based on the main components analysis, we verified genetic divergence between the bird-of-paradise accessions in the UNEMAT Collection. The most promising combinations for future crosses in breeding programs comprise accessions 1, 11, and 23 and accession 1 as the most divergent among the accessions evaluated.

  5. Sparse redundancy analysis of high-dimensional genetic and genomic data

    NARCIS (Netherlands)

    Csala, Attila; Voorbraak, Frans P. J. M.; Zwinderman, Aeilko H.; Hof, Michel H.

    2017-01-01

    Motivation: Recent technological developments have enabled the possibility of genetic and genomic integrated data analysis approaches, where multiple omics datasets from various biological levels are combined and used to describe (disease) phenotypic variations. The main goal is to explain and

  6. Performance impact of mutation operators of a subpopulation-based genetic algorithm for multi-robot task allocation problems.

    Science.gov (United States)

    Liu, Chun; Kroll, Andreas

    2016-01-01

    Multi-robot task allocation determines the task sequence and distribution for a group of robots in multi-robot systems, which is one of constrained combinatorial optimization problems and more complex in case of cooperative tasks because they introduce additional spatial and temporal constraints. To solve multi-robot task allocation problems with cooperative tasks efficiently, a subpopulation-based genetic algorithm, a crossover-free genetic algorithm employing mutation operators and elitism selection in each subpopulation, is developed in this paper. Moreover, the impact of mutation operators (swap, insertion, inversion, displacement, and their various combinations) is analyzed when solving several industrial plant inspection problems. The experimental results show that: (1) the proposed genetic algorithm can obtain better solutions than the tested binary tournament genetic algorithm with partially mapped crossover; (2) inversion mutation performs better than other tested mutation operators when solving problems without cooperative tasks, and the swap-inversion combination performs better than other tested mutation operators/combinations when solving problems with cooperative tasks. As it is difficult to produce all desired effects with a single mutation operator, using multiple mutation operators (including both inversion and swap) is suggested when solving similar combinatorial optimization problems.

  7. Identifying Genotype-by-Environment Interactions in the Metabolism of Germinating Arabidopsis Seeds Using Generalized Genetical Genomics

    NARCIS (Netherlands)

    Joosen, Ronny Viktor Louis; Arends, Danny; Li, Yang; Willems, Leo A. J.; Keurentjes, Joost J. B.; Ligterink, Wilco; Jansen, Ritsert C.; Hilhorst, Henk W. M.

    A complex phenotype such as seed germination is the result of several genetic and environmental cues and requires the concerted action of many genes. The use of well-structured recombinant inbred lines in combination with "omics" analysis can help to disentangle the genetic basis of such

  8. Genetic and Environmental Continuity in Personality Development: A Meta-Analysis

    Science.gov (United States)

    Briley, Daniel A.; Tucker-Drob, Elliot M.

    2014-01-01

    The longitudinal stability of personality is low in childhood, but increases substantially into adulthood. Theoretical explanations for this trend differ in the emphasis placed on intrinsic maturation and socializing influences. To what extent does the increasing stability of personality result from the continuity and crystallization of genetically influenced individual differences, and to what extent does the increasing stability of life experiences explain increases in personality trait stability? Behavioral genetic studies, which decompose longitudinal stability into sources associated with genetic and environmental variation, can help to address this question. We aggregated effect sizes from 24 longitudinal behavioral genetic studies containing information on a total of 21,057 sibling pairs from six types that varied in terms of genetic relatedness and ranged in age from infancy to old age. A combination of linear and nonlinear meta-analytic regression models were used to evaluate age-trends in levels of heritability and environmentality, stabilities of genetic and environmental effects, and the contributions of genetic and environmental effects to overall phenotypic stability. Both the genetic and environmental influences on personality increase in stability with age. The contribution of genetic effects to phenotypic stability is moderate in magnitude and relatively constant with age, in part because of small-to-moderate decreases in the heritability of personality over child development that offset increases in genetic stability. In contrast, the contribution of environmental effects to phenotypic stability increases from near-zero in early childhood to moderate in adulthood. The lifespan trend of increasing phenotypic stability, therefore, predominantly results from environmental mechanisms. PMID:24956122

  9. Genetic Thinking in the Study of Social Relationships: Five Points of Entry.

    Science.gov (United States)

    Reiss, David

    2010-09-01

    For nearly a generation, researchers studying human behavioral development have combined genetically informed research designs with careful measures of social relationships such as parenting, sibling relationships, peer relationships, marital processes, social class stratifications, and patterns of social engagement in the elderly. In what way have these genetically informed studies altered the construction and testing of social theories of human development? We consider five points of entry where genetic thinking is taking hold. First, genetic findings suggest an alternative scenario for explaining social data. Associations between measures of the social environment and human development may be due to genes that influence both. Second, genetic studies add to other prompts to study the early developmental origins of current social phenomena in midlife and beyond. Third, genetic analyses promise to shed light on understudied social systems, such as sibling relationships, that have an impact on human development independent of genotype. Fourth, genetic analyses anchor in neurobiology individual differences in resilience and sensitivity to both adverse and favorable social environments. Finally, genetic analyses increase the utility of laboratory simulations of human social processes and of animal models. © The Author(s) 2010.

  10. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

  11. Heterosis as investigated in terms of polyploidy and genetic diversity using designed Brassica juncea amphiploid and its progenitor diploid species.

    Directory of Open Access Journals (Sweden)

    Payal Bansal

    Full Text Available Fixed heterosis resulting from favorable interactions between the genes on their homoeologous genomes in an allopolyploid is considered analogous to classical heterosis accruing from interactions between homologous chromosomes in heterozygous plants of a diploid species. It has been hypothesized that fixed heterosis may be one of the causes of low classical heterosis in allopolyploids. We used Indian mustard (Brassica juncea, 2n = 36; AABB as a model system to analyze this hypothesis due to ease of its resynthesis from its diploid progenitors, B. rapa (2n = 20; AA and B. nigra (2n = 16; BB. Both forms of heterosis were investigated in terms of ploidy level, gene action and genetic diversity. To facilitate this, eleven B. juncea genotypes were resynthesized by hybridizing ten near inbred lines of B. rapa and nine of B. nigra. Three half diallel combinations involving resynthesized B. juncea (11×11 and the corresponding progenitor genotypes of B. rapa (10×10 and B. nigra (9×9 were evaluated. Genetic diversity was estimated based on DNA polymorphism generated by SSR primers. Heterosis and genetic diversity in parental diploid species appeared not to predict heterosis and genetic diversity at alloploid level. There was also no association between combining ability, genetic diversity and heterosis across ploidy. Though a large proportion (0.47 of combinations showed positive values, the average fixed heterosis was low for seed yield but high for biomass yield. The genetic diversity was a significant contributor to fixed heterosis for biomass yield, due possibly to adaptive advantage it may confer on de novo alloploids during evolution. Good general/specific combiners at diploid level did not necessarily produce good general/specific combiners at amphiploid level. It was also concluded that polyploidy impacts classical heterosis indirectly due to the negative association between fixed heterosis and classical heterosis.

  12. 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 ...

  13. Characterization of four salsola species and their genetic relationship by aflp

    International Nuclear Information System (INIS)

    Amal, M.E.; Hamid, A.

    2016-01-01

    Amplified length polymorphism (AFLP) technique was used to characterize and detect molecular genetic markers for four Salsola species collected from Al Jouf region in the northern of Saudi Arabia and to shed light on their genetic relationships. Three primer combinations were used for AFLP analysis of the four Salsola species, they generated a total of 181 fragments of which 133 were species specific markers scored across Salsola species. The dendogram produced by Jaccard's coefficient and the UPGMA clustering method showed one main cluster, subdivided into two subclusters. The first sub cluster included Salsola schweinfurthii and Salsola tetrandra. The second sub cluster included Salsola villosa and Salsola cyclophylla. It is worth mentioning that this is the first study to use AFLP markers to characterize and detect molecular genetic markers for the four Salsola species and their genetic relationships. (author)

  14. A multi-perspective view of genetic variation in Cameroon.

    Science.gov (United States)

    Coia, V; Brisighelli, F; Donati, F; Pascali, V; Boschi, I; Luiselli, D; Battaggia, C; Batini, C; Taglioli, L; Cruciani, F; Paoli, G; Capelli, C; Spedini, G; Destro-Bisol, G

    2009-11-01

    In this study, we report the genetic variation of autosomal and Y-chromosomal microsatellites in a large Cameroon population dataset (a total of 11 populations) and jointly analyze novel and previous genetic data (mitochondrial DNA and protein coding loci) taking geographic and cultural factors into consideration. The complex pattern of genetic variation of Cameroon can in part be described by contrasting two geographic areas (corresponding to the northern and southern part of the country), which differ substantially in environmental, biological, and cultural aspects. Northern Cameroon populations show a greater within- and among-group diversity, a finding that reflects the complex migratory patterns and the linguistic heterogeneity of this area. A striking reduction of Y-chromosomal genetic diversity was observed in some populations of the northern part of the country (Podokwo and Uldeme), a result that seems to be related to their demographic history rather than to sampling issues. By exploring patterns of genetic, geographic, and linguistic variation, we detect a preferential correlation between genetics and geography for mtDNA. This finding could reflect a female matrimonial mobility that is less constrained by linguistic factors than in males. Finally, we apply the island model to mitochondrial and Y-chromosomal data and obtain a female-to-male migration Nnu ratio that was more than double in the northern part of the country. The combined effect of the propensity to inter-populational admixture of females, favored by cultural contacts, and of genetic drift acting on Y-chromosomal diversity could account for the peculiar genetic pattern observed in northern Cameroon.

  15. An overview of human genetic privacy

    OpenAIRE

    Shi, Xinghua; Wu, Xintao

    2016-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that nee...

  16. Next generation sequencing and its applications in forensic genetics

    DEFF Research Database (Denmark)

    Børsting, Claus; Morling, Niels

    2015-01-01

    articles and presentations at conferences with forensic aspects of NGS. These contributions have demonstrated that NGS offers new possibilities for forensic genetic case work. More information may be obtained from unique samples in a single experiment by analyzing combinations of markers (STRs, SNPs......It has been almost a decade since the first next generation sequencing (NGS) technologies emerged and quickly changed the way genetic research is conducted. Today, full genomes are mapped and published almost weekly and with ever increasing speed and decreasing costs. NGS methods and platforms have...... matured during the last 10 years, and the quality of the sequences has reached a level where NGS is used in clinical diagnostics of humans. Forensic genetic laboratories have also explored NGS technologies and especially in the last year, there has been a small explosion in the number of scientific...

  17. Rethinking dog domestication by integrating genetics, archeology, and biogeography

    DEFF Research Database (Denmark)

    Larson, Greger; Karlsson, Elinor K.; Perri, Angela

    2012-01-01

    The dog was the first domesticated animal but it remains uncertain when the domestication process began and whether it occurred just once or multiple times across the Northern Hemisphere. To ascertain the value of modern genetic data to elucidate the origins of dog domestication, we analyzed 49......,024 autosomal SNPs in 1,375 dogs (representing 35 breeds) and 19 wolves. After combining our data with previously published data, we contrasted the genetic signatures of 121 breeds with a worldwide archeological assessment of the earliest dog remains. Correlating the earliest archeological dogs......, and New Guinea Singing Dogs) come from regions outside the natural range of Canis lupus (the dog's wild ancestor) and where dogs were introduced more than 10,000 y after domestication. These results demonstrate that the unifying characteristic among all genetically distinct so-called ancient breeds...

  18. Genetic Counseling for Diabetes Mellitus

    Science.gov (United States)

    Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.

    2014-01-01

    Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596

  19. Determinants of genetic structure in a nonequilibrium metapopulation of the plant Silene latifolia.

    Directory of Open Access Journals (Sweden)

    Peter D Fields

    Full Text Available Population genetic differentiation will be influenced by the demographic history of populations, opportunities for migration among neighboring demes and founder effects associated with repeated extinction and recolonization. In natural populations, these factors are expected to interact with each other and their magnitudes will vary depending on the spatial distribution and age structure of local demes. Although each of these effects has been individually identified as important in structuring genetic variance, their relative magnitude is seldom estimated in nature. We conducted a population genetic analysis in a metapopulation of the angiosperm, Silene latifolia, from which we had more than 20 years of data on the spatial distribution, demographic history, and extinction and colonization of demes. We used hierarchical Bayesian methods to disentangle which features of the populations contributed to among population variation in allele frequencies, including the magnitude and direction of their effects. We show that population age, long-term size and degree of connectivity all combine to affect the distribution of genetic variance; small, recently-founded, isolated populations contributed most to increase FST in the metapopulation. However, the effects of population size and population age are best understood as being modulated through the effects of connectivity to other extant populations, i.e. FST diminishes as populations age, but at a rate that depends how isolated the population is. These spatial and temporal correlates of population structure give insight into how migration, founder effect and within-deme genetic drift have combined to enhance and restrict genetic divergence in a natural metapopulation.

  20. Meeting review. Uncovering the genetic basis of adaptive change: on the intersection of landscape genomics and theoretical population genetics.

    Science.gov (United States)

    Joost, Stéphane; Vuilleumier, Séverine; Jensen, Jeffrey D; Schoville, Sean; Leempoel, Kevin; Stucki, Sylvie; Widmer, Ivo; Melodelima, Christelle; Rolland, Jonathan; Manel, Stéphanie

    2013-07-01

    A workshop recently held at the École Polytechnique Fédérale de Lausanne (EPFL, Switzerland) was dedicated to understanding the genetic basis of adaptive change, taking stock of the different approaches developed in theoretical population genetics and landscape genomics and bringing together knowledge accumulated in both research fields. Indeed, an important challenge in theoretical population genetics is to incorporate effects of demographic history and population structure. But important design problems (e.g. focus on populations as units, focus on hard selective sweeps, no hypothesis-based framework in the design of the statistical tests) reduce their capability of detecting adaptive genetic variation. In parallel, landscape genomics offers a solution to several of these problems and provides a number of advantages (e.g. fast computation, landscape heterogeneity integration). But the approach makes several implicit assumptions that should be carefully considered (e.g. selection has had enough time to create a functional relationship between the allele distribution and the environmental variable, or this functional relationship is assumed to be constant). To address the respective strengths and weaknesses mentioned above, the workshop brought together a panel of experts from both disciplines to present their work and discuss the relevance of combining these approaches, possibly resulting in a joint software solution in the future.

  1. What's in a name? Y chromosomes, surnames and the genetic genealogy revolution.

    Science.gov (United States)

    King, Turi E; Jobling, Mark A

    2009-08-01

    Heritable surnames are highly diverse cultural markers of coancestry in human populations. A patrilineal surname is inherited in the same way as the non-recombining region of the Y chromosome and there should, therefore, be a correlation between the two. Studies of Y haplotypes within surnames, mostly of the British Isles, reveal high levels of coancestry among surname cohorts and the influence of confounding factors, including multiple founders for names, non-paternities and genetic drift. Combining molecular genetics and surname analysis illuminates population structure and history, has potential applications in forensic studies and, in the form of 'genetic genealogy', is an area of rapidly growing interest for the public.

  2. 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.

  3. The household contact study design for genetic epidemiological studies of infectious diseases

    Directory of Open Access Journals (Sweden)

    Catherine eStein

    2013-04-01

    Full Text Available Most genetic epidemiological study designs fall into one of two categories: family-based and population-based (case-control. However, recent advances in statistical genetics call for study designs that combine these two approaches. We describe the household contact study design as we have applied it in our several years of study of the epidemiology of tuberculosis. Though we highlight its applicability for genetic epidemiological studies of infectious diseases, there are many facets of this design that are appealing for modern genetic studies, including the simultaneous enrollment of related and unrelated individuals, closely and distantly related individuals, collection of extensive epidemiologic and phenotypic data, and evaluation of effects of shared environment and gene by environment interaction. These study design characteristics are particularly appealing for current sequencing studies.

  4. Combined amplification and hybridization techniques for genome scanning in vegetatively propagated crops

    Energy Technology Data Exchange (ETDEWEB)

    Kahl, G; Ramser, J; Terauchi, R [Biocentre, University of Frankfurt, Frankfurt am Main (Germany); Lopez-Peralta, C [IRGP, Colegio de Postgraduados, Montecillo, Edo. de Mexico, Texcoco (Mexico); Asemota, H N [Biotechnology Centre, University of the West Indies, Mona, Kingston (Jamaica); Weising, K [School of Biological Sciences, University of Auckland, Auckland (New Zealand)

    1998-10-01

    A combination of PCR- and hybridization-based genome scanning techniques and sequence comparisons between non-coding chloroplast DNA flanking tRNA genes has been employed to screen Dioscorea species for intra- and interspecific genetic diversity. This methodology detected extensive polymorphisms within Dioscorea bulbifera L., and revealed taxonomic and phylogenetic relationships among cultivated Guinea yams varieties and their potential wild progenitors. Finally, screening of yam germplasm grown in Jamaica permitted reliable discrimination between all major cultivars. Genome scanning by micro satellite-primed PCR (MP-PCR) and random amplified polymorphic DNA (RAPD) analysis in combination with the novel random amplified micro satellite polymorphisms (RAMPO) hybridization technique has shown high potential for the genetic analysis of yams, and holds promise for other vegetatively propagated orphan crops. (author) 46 refs, 3 figs, 3 tabs

  5. Trapped in the extinction vortex? Strong genetic effects in a declining vertebrate population

    Directory of Open Access Journals (Sweden)

    Larsson Mikael

    2010-02-01

    Full Text Available Abstract Background Inbreeding and loss of genetic diversity are expected to increase the extinction risk of small populations, but detailed tests in natural populations are scarce. We combine long-term population and fitness data with those from two types of molecular markers to examine the role of genetic effects in a declining metapopulation of southern dunlins Calidris alpina schinzii, an endangered shorebird. Results The decline is associated with increased pairings between related individuals, including close inbreeding (as revealed by both field observations of parentage and molecular markers. Furthermore, reduced genetic diversity seems to affect individual fitness at several life stages. Higher genetic similarity between mates correlates negatively with the pair's hatching success. Moreover, offspring produced by related parents are more homozygous and suffer from increased mortality during embryonic development and possibly also after hatching. Conclusions Our results demonstrate strong genetic effects in a rapidly declining population, emphasizing the importance of genetic factors for the persistence of small populations.

  6. Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.

    Science.gov (United States)

    Kimberling, William J

    2005-11-01

    The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection is imperfect and mutations are often missed. This can be especially troublesome when dealing with a recessive disorder where the combination of genetic heterogeneity and missed mutation creates an imprecision in the genotypic assessment of individuals who do not appear to have the expected complement of two pathologic mutations. This article describes a statistical approach to the estimation of the likelihood of a genetic diagnosis under these conditions. In addition to providing a means of testing for missed mutations, it also provides a method of estimating and testing for the presence of genetic heterogeneity in the absence of linkage data. Gene frequencies as well as estimates of sensitivity and specificity can be obtained as well. The test is applied to GJB2 recessive nonsyndromic deafness, Usher syndrome types Ib and IIa, and Pendred-enlarged vestibular aqueduct syndrome. Copyright 2005 Wiley-Liss, Inc.

  7. [Population genetic study of Russian cosmonauts and test subjects: genetic demographic parameters and immunogenetic markers].

    Science.gov (United States)

    Kurbatova, O L; Pobedonostseva, E Iu; Prokhorovskaia, V D; Kholod, O N; Evsiukov, A N; Bogomolov, V V; Voronkov, Iu I; Filatova, L M; Larina, O N; Sidorenko, L A; Morgun, V V; Kasparanskiĭ, R R; Altukhov, Iu P

    2006-10-01

    Genetic demographic characteristics and immunogenetic markers (blood groups ABO, Rhesus, MNSs, P, Duffy, Kidd, and Kell) have been studied in a group of 132 Russian cosmonauts and test subjects (CTSG). Analysis of pedigrees has shown a high exogamy in the preceding generations: almost half of the subjects have mixed ethnic background. According to the results of genetic demographic analysis, a sample from the Moscow population was used as control group (CG). Comparison between the CTSG and CG has demonstrated significant differences in genotype frequencies for several blood group systems. The CTSG is characterized by a decreased proportion of rare interlocus genotypic combinations and an increased man heterozygosity. Analysis of the distributions of individual heterozygosity for loci with codominant expression of alleles has shown that highly heterozygous loci are more frequent in the CTSG. Taking into account that the CTSG has been thoroughly selected from the general population, it is concluded that heterozygosity is related to successful adaptation to a space flight.

  8. Which lesson can be learnt from a historical contamination analysis of the most polluted river in Europe?

    Energy Technology Data Exchange (ETDEWEB)

    Lofrano, Giusy, E-mail: glofrano@unisa.it [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy); Institute of Methodologies for Environmental Analysis, National Research Council (CNR IMA), C. da S. Loja Z.I. Tito Scalo, I-85050 Potenza (Italy); Department of Environmental and Civil Engineering, University of Naples “Federico II”, Via Claudio, 21, 80127 Naples (Italy); Libralato, Giovanni [Department of Environmental Sciences, Informatics and Statistics, University Cà Foscari Venice, Campo della Celestia, 2737/B-30122 Venice (Italy); Institute of Marine Sciences, National Research Council (CNR ISMAR), Arsenale Tesa 104, Castello 2737/F-30122, Venice (Italy); Acanfora, Floriana Giuseppina [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy); Pucci, Luca [Legambiente Campania, Piazza Cavour, 168-80137 Naples (Italy); Carotenuto, Maurizio [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy)

    2015-08-15

    The Sarno River trend analysis during the last 60 years was traced focusing on the socio-economic and environmental issues. The river, originally worshiped as a god by Romans, is affected by an extreme level of environmental degradation, being sadly reputed as the most polluted river in Europe. This is the “not to be followed” example of the worst way a European river can be managed. Data about water, sediment, soil, biota and air contamination were collected from scientific papers, monitoring surveys, and technical reports depicting a sick river. Originally, the river was reputed as a source of livelihood, now it is considered a direct threat for human health. Wastewater can still flow through the river partially or completely untreated, waste production associated with the manufacture of metal products and leather tanning continues to suffer from the historical inadequacy of regional wastewater treatment plants (WWTPs), associated with the partial or no reuse of effluents. All efforts should be devoted to solving the lack of wastewater and waste management, the gap in land planning, improving the capacity of existing WWTPs also via the construction of new sewer sections, restoring Sarno River minimum vital-flow, keeping to a minimum uncontrolled discharges as well as supporting river contracts. The 2015 goal stated by the Water Framework Directive (2000/60/EC) is still far to be reached. The lesson has not been learnt yet. - Highlights: • Sarno River is far from reaching the 2015 goal of Water Framework Directive. • A full knowledge of the health status of Sarno River was provided. • Poor wastewater management and agricultural pressures as main weaknesses • Restoration of vital flow and river contracts as immediate and low cost solutions.

  9. Which lesson can be learnt from a historical contamination analysis of the most polluted river in Europe?

    International Nuclear Information System (INIS)

    Lofrano, Giusy; Libralato, Giovanni; Acanfora, Floriana Giuseppina; Pucci, Luca; Carotenuto, Maurizio

    2015-01-01

    The Sarno River trend analysis during the last 60 years was traced focusing on the socio-economic and environmental issues. The river, originally worshiped as a god by Romans, is affected by an extreme level of environmental degradation, being sadly reputed as the most polluted river in Europe. This is the “not to be followed” example of the worst way a European river can be managed. Data about water, sediment, soil, biota and air contamination were collected from scientific papers, monitoring surveys, and technical reports depicting a sick river. Originally, the river was reputed as a source of livelihood, now it is considered a direct threat for human health. Wastewater can still flow through the river partially or completely untreated, waste production associated with the manufacture of metal products and leather tanning continues to suffer from the historical inadequacy of regional wastewater treatment plants (WWTPs), associated with the partial or no reuse of effluents. All efforts should be devoted to solving the lack of wastewater and waste management, the gap in land planning, improving the capacity of existing WWTPs also via the construction of new sewer sections, restoring Sarno River minimum vital-flow, keeping to a minimum uncontrolled discharges as well as supporting river contracts. The 2015 goal stated by the Water Framework Directive (2000/60/EC) is still far to be reached. The lesson has not been learnt yet. - Highlights: • Sarno River is far from reaching the 2015 goal of Water Framework Directive. • A full knowledge of the health status of Sarno River was provided. • Poor wastewater management and agricultural pressures as main weaknesses • Restoration of vital flow and river contracts as immediate and low cost solutions

  10. Genetic diversity in Kenyan populations of Acacia senegal (L.) willd ...

    African Journals Online (AJOL)

    Acacia senegal belongs to the subgenus, Aculeiferum. It is an African arid and semi arid zone multipurpose tree species, highly valued for gum arabic production, agroforestry and desertification control besides other multiple uses. Genetic variation and resulting variable groupings were assessed using combined ...

  11. Genetic and environmental continuity in personality development: a meta-analysis.

    Science.gov (United States)

    Briley, Daniel A; Tucker-Drob, Elliot M

    2014-09-01

    The longitudinal stability of personality is low in childhood but increases substantially into adulthood. Theoretical explanations for this trend differ in the emphasis placed on intrinsic maturation and socializing influences. To what extent does the increasing stability of personality result from the continuity and crystallization of genetically influenced individual differences, and to what extent does the increasing stability of life experiences explain increases in personality trait stability? Behavioral genetic studies, which decompose longitudinal stability into sources associated with genetic and environmental variation, can help to address this question. We aggregated effect sizes from 24 longitudinal behavioral genetic studies containing information on a total of 21,057 sibling pairs from 6 types that varied in terms of genetic relatedness and ranged in age from infancy to old age. A combination of linear and nonlinear meta-analytic regression models were used to evaluate age trends in levels of heritability and environmentality, stabilities of genetic and environmental effects, and the contributions of genetic and environmental effects to overall phenotypic stability. Both the genetic and environmental influences on personality increase in stability with age. The contribution of genetic effects to phenotypic stability is moderate in magnitude and relatively constant with age, in part because of small-to-moderate decreases in the heritability of personality over child development that offset increases in genetic stability. In contrast, the contribution of environmental effects to phenotypic stability increases from near zero in early childhood to moderate in adulthood. The life-span trend of increasing phenotypic stability, therefore, predominantly results from environmental mechanisms. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  12. Evidence of two genetic clusters of manatees with low genetic diversity in Mexico and implications for their conservation

    Science.gov (United States)

    Nourisson, C.; Morales-Vela, B.; Padilla-Saldivar, J.; Tucker, K.P.; Clark, A.; Olivera-Gomez, L. D.; Bonde, R.; McGuire, P.

    2011-01-01

    The Antillean manatee (Trichechus manatus manatus) occupies the tropical coastal waters of the Greater Antilles and Caribbean, extending from Mexico along Central and South America to Brazil. Historically, manatees were abundant in Mexico, but hunting during the pre-Columbian period, the Spanish colonization and throughout the history of Mexico, has resulted in the significantly reduced population occupying Mexico today. The genetic structure, using microsatellites, shows the presence of two populations in Mexico: the Gulf of Mexico (GMx) and Chetumal Bay (ChB) on the Caribbean coast, with a zone of admixture in between. Both populations show low genetic diversity (GMx: NA=2.69; HE=0.41 and ChB: NA=3.0; HE=0.46). The lower genetic diversity found in the GMx, the largest manatee population in Mexico, is probably due to a combination of a founder effect, as this is the northern range of the sub-species of T. m. manatus, and a bottleneck event. The greater genetic diversity observed along the Caribbean coast, which also has the smallest estimated number of individuals, is possibly due to manatees that come from the GMx and Belize. There is evidence to support limited or unidirectional gene flow between these two important areas. The analyses presented here also suggest minimal evidence of a handful of individual migrants possibly between Florida and Mexico. To address management issues we suggest considering two distinct genetic populations in Mexico, one along the Caribbean coast and one in the riverine systems connected to the GMx. ?? 2011 Springer Science+Business Media B.V.

  13. Evidence of two genetic clusters of manatees with low genetic diversity in Mexico and implications for their conservation.

    Science.gov (United States)

    Nourisson, Coralie; Morales-Vela, Benjamín; Padilla-Saldívar, Janneth; Tucker, Kimberly Pause; Clark, Annmarie; Olivera-Gómez, Leon David; Bonde, Robert; McGuire, Peter

    2011-07-01

    The Antillean manatee (Trichechus manatus manatus) occupies the tropical coastal waters of the Greater Antilles and Caribbean, extending from Mexico along Central and South America to Brazil. Historically, manatees were abundant in Mexico, but hunting during the pre-Columbian period, the Spanish colonization and throughout the history of Mexico, has resulted in the significantly reduced population occupying Mexico today. The genetic structure, using microsatellites, shows the presence of two populations in Mexico: the Gulf of Mexico (GMx) and Chetumal Bay (ChB) on the Caribbean coast, with a zone of admixture in between. Both populations show low genetic diversity (GMx: N(A) = 2.69; H(E) = 0.41 and ChB: N(A) = 3.0; H(E) = 0.46). The lower genetic diversity found in the GMx, the largest manatee population in Mexico, is probably due to a combination of a founder effect, as this is the northern range of the sub-species of T. m. manatus, and a bottleneck event. The greater genetic diversity observed along the Caribbean coast, which also has the smallest estimated number of individuals, is possibly due to manatees that come from the GMx and Belize. There is evidence to support limited or unidirectional gene flow between these two important areas. The analyses presented here also suggest minimal evidence of a handful of individual migrants possibly between Florida and Mexico. To address management issues we suggest considering two distinct genetic populations in Mexico, one along the Caribbean coast and one in the riverine systems connected to the GMx.

  14. Evidence of two genetic clusters of manatees with low genetic diversity in Mexico and implications for their conservation

    Science.gov (United States)

    Nourisson, Coralie; Morales-Vela, Benjamin; Padilla-Saldivar, Janneth; Tucker, Kimberly Pause; Clark, Ann Marie; Olivera-Gomez, Leon David; Bonde, Robert; McGuire, Peter

    2011-01-01

    The Antillean manatee (Trichechus manatus manatus) occupies the tropical coastal waters of the Greater Antilles and Caribbean, extending from Mexico along Central and South America to Brazil. Historically, manatees were abundant in Mexico, but hunting during the pre-Columbian period, the Spanish colonization and throughout the history of Mexico, has resulted in the significantly reduced population occupying Mexico today. The genetic structure, using microsatellites, shows the presence of two populations in Mexico: the Gulf of Mexico (GMx) and Chetumal Bay (ChB) on the Caribbean coast, with a zone of admixture in between. Both populations show low genetic diversity (GMx: NA = 2.69; HE = 0.41 and ChB: NA = 3.0; HE = 0.46). The lower genetic diversity found in the GMx, the largest manatee population in Mexico, is probably due to a combination of a founder effect, as this is the northern range of the sub-species of T. m. manatus, and a bottleneck event. The greater genetic diversity observed along the Caribbean coast, which also has the smallest estimated number of individuals, is possibly due to manatees that come from the GMx and Belize. There is evidence to support limited or unidirectional gene flow between these two important areas. The analyses presented here also suggest minimal evidence of a handful of individual migrants possibly between Florida and Mexico. To address management issues we suggest considering two distinct genetic populations in Mexico, one along the Caribbean coast and one in the riverine systems connected to the GMx.

  15. 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 ...

  16. Importance of rodents for hydrology: lessons learnt from various field experiments

    Science.gov (United States)

    van Schaik, Loes; Zangerlé, Anne; Schneider, Anne-Kathrin; Schröder, Boris; Eccard, Jana

    2017-04-01

    organisms are known to create soil macropores of different sizes and with varying extent and orientation: most commonly earthworms, rodents, moles and roots. Preferential flow through macropore networks is dynamic and typically occurs when short individual macropores become connected at the hillslope scale as the nodes between the macropores become wet. Large lateral macropores may contribute to rapid subsurface stormflow of water and solutes at hillslope scale and supply a significant part of the catchment scale discharge during high intensity rainfall events even under relatively dry catchment state. Outflow from soil pipes, especially in the valley bottom or along the banking near to streams, is frequently observed, however, it remains a challenge to measure the spatial distribution, extent and connectivity of macropores at hill slope scales. We hypothesize that local information on organism abundances may be used as an indicator for spatial variability in infiltration, water storage and fluxes at the small scale and that knowledge on the landscape scale spatial distribution of organisms can provide information on connectivity of macropores at hillslope scale. Here we summarize the lessons learnt during three years of measurements aimed at determining the influence of rodent burrows on soil hydrology in a meso-scale catchment. Within the Attert Catchment (297 km2) in Luxembourg we performed sprinkling experiments with a brilliant blue tracer on twelve plots, of which six directly above rodent burrow openings and six on a surface without a rodent burrow opening, in order to examine the influence of the burrow openings on the infiltration pattern. Then we tested the extent of flow through mice burrows in different forest types, with varying geology and slope, by supplying 5 Liters of water with brilliant blue tracer directly to 24 burrow openings at soil surface. We excavated the burrows to measure how far the water was transported laterally in the burrow. Though

  17. Paradox of Genetic Diversity in the Case of Prionic Diseases in Sheep Breeds from Romania

    Directory of Open Access Journals (Sweden)

    Gheorghe Hrinca

    2016-05-01

    Full Text Available The main target of this debate is the revaluation of the biodiversity concept and especially of its significance in the animal husbandry field. The paper analyzes the genetic diversity at the determinant locus of scrapie (PrP in the sheep breeds from Romania: Palas Merino, Tsigai, Tsurcana, Botosani Karakul, Palas Meat Breed and Palas Milk Breed. The prionic genetic diversity (d has been quantified by means of informational energy (e. This study highlights the impact of increasing the genetic diversity from the PrP locus level on the health status of ovine species and especially on human food safety. The informational statistics processing shows that the resistance / susceptibility to scrapie is in relation to the degree of prionic genetic diversity. The limitation of genetic diversity by selecting the individuals possessing the ARR allele in both homozygous status and in combination with alleles ARQ, ARH AHQ confers to sheep herds certain levels of resistance to contamination with scrapie disease. Instead, promoting to reproduction also individuals possessing the VRQ allele in all possible genotypic combinations (including ARR allele increases genetic diversity but also has as effect increasing the susceptibility of sheep to prion disease onset. From the point of view of morbid phenomenon, the Botosani Karakul breed is clearly advantaged compared to all other indigenous sheep breeds from Romania. For methodological coherency in the interpretative context of this issue, the genetic diversity was analyzed in association with the heterozygosity degree of breeds and their Hardy-Weinberg genetic equilibrium at the PrP locus level. Finally, the paper refers to decisions that the improvers must take to achieve the genetic prophylaxis in the scrapie case taking into account the polymorphism degree of prion protein.

  18. Genetic Programming for the Generation of Crisp and Fuzzy Rule Bases in Classification and Diagnosis of Medical Data

    DEFF Research Database (Denmark)

    Dounias, George; Tsakonas, Athanasios; Jantzen, Jan

    2002-01-01

    This paper demonstrates two methodologies for the construction of rule-based systems in medical decision making. The first approach consists of a method combining genetic programming and heuristic hierarchical rule-base construction. The second model is composed by a strongly-typed genetic...

  19. Combined genome scans for body stature in 6,602 European twins

    DEFF Research Database (Denmark)

    Perola, Markus; Sammalisto, Sampo; Hiekkalinna, Tero

    2007-01-01

    combined and related to the sequence positions using software developed by us, which is publicly available (https://apps.bioinfo.helsinki.fi/software/cartographer.aspx). Variance component linkage analysis was performed with age, sex, and country of origin as covariates. The covariate adjusted heritability....... Several cohorts contributed to the identified loci, suggesting an evolutionarily old genetic variant having effects on stature in European-based populations. To facilitate the genetic studies of stature we have also set up a website that lists all stature genome scans published and their most significant...

  20. Optimization of Neuro-Fuzzy System Using Genetic Algorithm for Chromosome Classification

    Directory of Open Access Journals (Sweden)

    M. Sarosa

    2013-09-01

    Full Text Available Neuro-fuzzy system has been shown to provide a good performance on chromosome classification but does not offer a simple method to obtain the accurate parameter values required to yield the best recognition rate. This paper presents a neuro-fuzzy system where its parameters can be automatically adjusted using genetic algorithms. The approach combines the advantages of fuzzy logic theory, neural networks, and genetic algorithms. The structure consists of a four layer feed-forward neural network that uses a GBell membership function as the output function. The proposed methodology has been applied and tested on banded chromosome classification from the Copenhagen Chromosome Database. Simulation result showed that the proposed neuro-fuzzy system optimized by genetic algorithms offers advantages in setting the parameter values, improves the recognition rate significantly and decreases the training/testing time which makes genetic neuro-fuzzy system suitable for chromosome classification.

  1. Genetic diversity analysis of brassica napus/brassica campestris progenies using microsatellite markers

    International Nuclear Information System (INIS)

    Fayyaz, L.; Farhatullah, A.; Iqbal, S.; Kanwal, M.; Nawaz, I.

    2014-01-01

    Genetic diversity and relationship of F2 segregating progenies of interspecific crosses between B. napus N-501/B. campestris C-118 were studied. A set of 90 genotypes (2 parental lines and their 88 F2 progenies) was characterized separately using 24 microsatellite or SSR markers to cover the diversity as broadly as possibly present in them. In initial screening only 12 out of 24 SSR primers combination amplified DNA fragments, while the remaining 12 SSR primers did not amplify DNA fragment therefore those 12 SSR molecular markers were not used for further analysis. The 12 SSR primer combinations generated a total of 33 alleles, of that 32 were polymorphic loci, whereas only one was monomorphic locus. Primers BRMS-19 and BRMS-40 were highly polymorphic producing 4 bands each. Primer Ra2-D04 was less polymorphic and it produced only one band. The proportion of polymorphic loci was 95.83% which indicates high genetic diversity among the progenies. The average number of polymorphic alleles per locus was 2.66. The PIC values ranged from 0.395 for primer Ra2-E03 to 0.726 for primer BRMS-019 with an average genetic diversity (PIC value) of 0.584 per locus. Seven primers showed PIC values above 0.5 (50%) indicating high genetic diversity in the studied plant materials. Pair-wise similarity indices among 90 genotypes ranged from 0.3 to 0.95. Dendrogram obtained through UPGMA clustering of F2 progenies depicted eight main groups using similarity coefficient of 0.70. The progenies could be similar to their parents if they have the same banding patterns as that of the parents and could be distinguished from each other by the combination of fragments which are repeatedly present in one progeny and absent in the other. Considerable genetic diversity has been found among the F2 segregating progenies and their parents using SSR markers thus, SSR analysis proved to be a useful tool. (author)

  2. Resizing Technique-Based Hybrid Genetic Algorithm for Optimal Drift Design of Multistory Steel Frame Buildings

    Directory of Open Access Journals (Sweden)

    Hyo Seon Park

    2014-01-01

    Full Text Available Since genetic algorithm-based optimization methods are computationally expensive for practical use in the field of structural optimization, a resizing technique-based hybrid genetic algorithm for the drift design of multistory steel frame buildings is proposed to increase the convergence speed of genetic algorithms. To reduce the number of structural analyses required for the convergence, a genetic algorithm is combined with a resizing technique that is an efficient optimal technique to control the drift of buildings without the repetitive structural analysis. The resizing technique-based hybrid genetic algorithm proposed in this paper is applied to the minimum weight design of three steel frame buildings. To evaluate the performance of the algorithm, optimum weights, computational times, and generation numbers from the proposed algorithm are compared with those from a genetic algorithm. Based on the comparisons, it is concluded that the hybrid genetic algorithm shows clear improvements in convergence properties.

  3. Reverse genetics with animal viruses. NSV reverse genetics

    International Nuclear Information System (INIS)

    Mebatsion, T.

    2005-01-01

    New strategies to genetically manipulate the genomes of several important animal pathogens have been established in recent years. This article focuses on the reverse genetics techniques, which enables genetic manipulation of the genomes of non-segmented negative-sense RNA viruses. Recovery of a negative-sense RNA virus entirely from cDNA was first achieved for rabies virus in 1994. Since then, reverse genetic systems have been established for several pathogens of medical and veterinary importance. Based on the reverse genetics technique, it is now possible to design safe and more effective live attenuated vaccines against important viral agents. In addition, genetically tagged recombinant viruses can be designed to facilitate serological differentiation of vaccinated animals from infected animals. The approach of delivering protective immunogens of different pathogens using a single vector was made possible with the introduction of the reverse genetics system, and these novel broad-spectrum vaccine vectors have potential applications in improving animal health in developing countries. (author)

  4. Biological pathways and genetic mechanisms involved in social functioning.

    Science.gov (United States)

    Ordoñana, Juan R; Bartels, Meike; Boomsma, Dorret I; Cella, David; Mosing, Miriam; Oliveira, Joao R; Patrick, Donald L; Veenhoven, Ruut; Wagner, Gert G; Sprangers, Mirjam A G

    2013-08-01

    To describe the major findings in the literature regarding associations between biological and genetic factors and social functioning, paying special attention to: (1) heritability studies on social functioning and related concepts; (2) hypothesized biological pathways and genetic variants that could be involved in social functioning, and (3) the implications of these results for quality-of-life research. A search of Web of Science and PubMed databases was conducted using combinations of the following keywords: genetics, twins, heritability, social functioning, social adjustment, social interaction, and social dysfunction. Variability in the definitions and measures of social functioning was extensive. Moderate to high heritability was reported for social functioning and related concepts, including prosocial behavior, loneliness, and extraversion. Disorders characterized by impairments in social functioning also show substantial heritability. Genetic variants hypothesized to be involved in social functioning are related to the network of brain structures and processes that are known to affect social cognition and behavior. Better knowledge and understanding about the impact of genetic factors on social functioning is needed to help us to attain a more comprehensive view of health-related quality-of-life (HRQOL) and will ultimately enhance our ability to identify those patients who are vulnerable to poor social functioning.

  5. Molecular identification and genetic variation of varieties of Styphnolobium japonicum (Fabaceae) using SRAP markers.

    Science.gov (United States)

    Sun, R X; Zhang, C H; Zheng, Y Q; Zong, Y C; Yu, X D; Huang, P

    2016-05-06

    Thirty-four Styphnolobium japonicum varieties were analyzed using sequence-related amplified polymorphism (SRAP) markers, to investigate genetic variation and test the effectiveness of SRAP markers in DNA fingerprint establishment. Twelve primer pairs were selected from 120 primer combinations for their reproducibility and high polymorphism. We found a total of 430 amplified fragments, of which 415 fragments were considered polymorphic with an average of 34.58 polymorphic fragments for each primer combination. The percentage of polymorphic fragments was 96.60%, and four primer pairs showed 100% polymorphism. Moreover, simple matched coefficients ranged between 0.68 and 0.89, with an average of 0.785, indicating that the genetic variation among varieties was relatively low. This could be because of the narrow genetic basis of the selected breeding material. Based on the similarity coefficient value of 0.76, the varieties were divided into four major groups. In addition, abundant and clear SRAP fingerprints were obtained and could be used to establish DNA fingerprints. In the DNA fingerprints, each variety had its unique pattern that could be easily distinguished from others. The results demonstrated that 34 varieties of S. japonicum had a relatively narrow genetic variation. Hence, a broadening of the genetic basis of breeding material is necessary. We conclude that establishment of DNA fingerprint is feasible by means of SRAP markers.

  6. Habitat Fragmentation Differentially Affects Genetic Variation, Phenotypic Plasticity and Survival in Populations of a Gypsum Endemic

    Directory of Open Access Journals (Sweden)

    Silvia Matesanz

    2017-05-01

    Full Text Available Habitat fragmentation, i.e., fragment size and isolation, can differentially alter patterns of neutral and quantitative genetic variation, fitness and phenotypic plasticity of plant populations, but their effects have rarely been tested simultaneously. We assessed the combined effects of size and connectivity on these aspects of genetic and phenotypic variation in populations of Centaurea hyssopifolia, a narrow endemic gypsophile that previously showed performance differences associated with fragmentation. We grew 111 maternal families sampled from 10 populations that differed in their fragment size and connectivity in a common garden, and characterized quantitative genetic variation, phenotypic plasticity to drought for key functional traits, and plant survival, as a measure of population fitness. We also assessed neutral genetic variation within and among populations using eight microsatellite markers. Although C. hyssopifolia is a narrow endemic gypsophile, we found substantial neutral genetic variation and quantitative variation for key functional traits. The partition of genetic variance indicated that a higher proportion of variation was found within populations, which is also consistent with low population differentiation in molecular markers, functional traits and their plasticity. This, combined with the generally small effect of habitat fragmentation suggests that gene flow among populations is not restricted, despite large differences in fragment size and isolation. Importantly, population’s similarities in genetic variation and plasticity did not reflect the lower survival observed in isolated populations. Overall, our results indicate that, although the species consists of genetically variable populations able to express functional plasticity, such aspects of adaptive potential may not always reflect populations’ survival. Given the differential effects of habitat connectivity on functional traits, genetic variation and fitness

  7. The cellular immune response of Daphnia magna under host-parasite genetic variation and variation in initial dose.

    Science.gov (United States)

    Auld, Stuart K J R; Edel, Kai H; Little, Tom J

    2012-10-01

    In invertebrate-parasite systems, the likelihood of infection following parasite exposure is often dependent on the specific combination of host and parasite genotypes (termed genetic specificity). Genetic specificity can maintain diversity in host and parasite populations and is a major component of the Red Queen hypothesis. However, invertebrate immune systems are thought to only distinguish between broad classes of parasite. Using a natural host-parasite system with a well-established pattern of genetic specificity, the crustacean Daphnia magna and its bacterial parasite Pasteuria ramosa, we found that only hosts from susceptible host-parasite genetic combinations mounted a cellular response following exposure to the parasite. These data are compatible with the hypothesis that genetic specificity is attributable to barrier defenses at the site of infection (the gut), and that the systemic immune response is general, reporting the number of parasite spores entering the hemocoel. Further supporting this, we found that larger cellular responses occurred at higher initial parasite doses. By studying the natural infection route, where parasites must pass barrier defenses before interacting with systemic immune responses, these data shed light on which components of invertebrate defense underlie genetic specificity. © 2012 The Author(s). Evolution© 2012 The Society for the Study of Evolution.

  8. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  9. Analysis of genetic diversity and construction of core collection of ...

    African Journals Online (AJOL)

    Jane

    2011-06-03

    Jun 3, 2011 ... Genetic diversity of 73 local mulberry varieties from Shanxi Province were screened using ISSR markers, with l5 primers combinations selected for their reproducibility and polymorphism. 129 bands were amplified, of which 115 bands showed polymorphism and the ratio of polymorphism bands was.

  10. A genetic algorithm solution for combinatorial problems - the nuclear core reload example

    Energy Technology Data Exchange (ETDEWEB)

    Schirru, R.; Silva, F.C. [Universidade Federal, Rio de Janeiro, RJ (Brazil). Coordenacao dos Programas de Pos-graduacao de Engenharia; Pereira, C.M.N.A. [Instituto de Engenharia Nuclear (IEN), Rio de Janeiro, RJ (Brazil); Chapot, J.L.C. [FURNAS, Rio de Janeiro, RJ (Brazil)

    1997-12-01

    This paper presents a solution to Traveling Salesman Problem based upon genetic algorithms (GA), using the classic crossover, but avoiding the feasibility problem in offspring individuals, allowing the natural evolution of the GA without introduction of heuristics in the genetic crossover operator. The genetic model presented, that we call the List Model (LM) is based on the encoding and decoding genotype in the way to always generate a phenotype that has a valid structure, over which will be applied the fitness, represented by the total distance. The main purpose of this work was to develop the basis for a new genetic model to be used in the reload of nuclear core of a PWR. In a generic way, this problem can be interpreted as a a search of the optimal combination of N different fuel elements in N nuclear core `holes`, where each combination or load pattern, determines the neutron flux shape and its associate peak factor. The goal is to find out the load pattern that minimizes the peak factor and consequently maximize the useful life of the nuclear fuel. The GA with the List Model was applied to the Angra-1 PWR reload problem and the results are remarkably better than the ones used in the last fuel cycle. (author). 12 refs., 3 figs., 2 tabs.

  11. MONITORING OF GENETIC DIVERSITY IN FARMED DEER POPULATIONS USING MICROSATELLITE MARKERS

    Directory of Open Access Journals (Sweden)

    Pavol Bajzík

    2011-12-01

    Full Text Available Deer (Cervidaei belong to the most important species used as farmed animals. We focused on assesing the genetic diversity among five deer populations. Analysis has been performed on a total of 183 animals originating from Czech Republic, Hungary, New Zealand, Poland and Slovak Republic. Genetic variability were investigated using 8 microsatellite markers used in deer. Statistical data of all populations we obtained on the basis of Nei statistics, using by POWERMARKER 3.23 programme. Graphical view of relationships among populations and individuals in the populations was obtained using the Dendroscope software. Molecular genetic data combinated with evaluation in statistical programmes could lead to a complex view of populations and diffrences among them.doi:10.5219/172

  12. Induction of atherosclerosis in mice and hamsters without germline genetic engineering

    DEFF Research Database (Denmark)

    Bjørklund, Martin Mæng; Hollensen, Anne Kruse; Hagensen, Mette Kallestrup

    2014-01-01

    RATIONALE: Atherosclerosis can be achieved in animals by germline genetic engineering, leading to hypercholesterolemia, but such models are constrained to few species and strains, and they are difficult to combine with other powerful techniques involving genetic manipulation or variation. OBJECTIVE......: To develop a method for induction of atherosclerosis without germline genetic engineering. METHODS AND RESULTS: Recombinant adeno-associated viral vectors were engineered to encode gain-of-function proprotein convertase subtilisin/kexin type 9 mutants, and mice were given a single intravenous vector...... injection followed by high-fat diet feeding. Plasma proprotein convertase subtilisin/kexin type 9 and total cholesterol increased rapidly and were maintained at high levels, and after 12 weeks, mice had atherosclerotic lesions in the aorta. Histology of the aortic root showed progression of lesions...

  13. Violence and HIV/AIDS prevention among female out-of-school youths in southwestern Nigeria: lessons learnt from interventions targeted at hawkers and apprentices.

    Science.gov (United States)

    Fawole, O I; Ajuwon, A J; Osungbade, K O

    2004-12-01

    Between 1997 and 2003, four studies on hawkers and apprentices in motor parks and work shops in south west, Nigeria were carried out to evaluate the effectiveness of interventions aimed at preventing HIV infection and gender based violence (GBV). The studies were in 3 phases namely baseline survey, intervention and end line survey. Interventions consisting of:--development and distribution of education materials and training programmes for the police, judiciary, instructors, drivers, traders and apprentices/hawkers, including micro-credit facilities were implemented in some of the studies. The major lessons learnt were that: Young girls working in the informal sector of the Nigerian economy face dual risks of HIV infection and GBV and yet they are seldom targets of intervention; Many had been victims of GBV and did not seek redress either because they accept it is their lot, are afraid of being stigmatized or are put off the prolonged legal system; Perpetrators tend to deny their involvement in violence; Despite the challenges involved, interventions implemented among female apprentices and hawkers, especially those that involve multiple stakeholders, made a difference in protecting this group from dual risks of GBV and HIV/AIDS infection. We recommend more intervention programmes for this population, and regulation of activities in the informal sector of the Nigerian economy.

  14. Steam condenser optimization using Real-parameter Genetic Algorithm for Prototype Fast Breeder Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Jayalal, M.L., E-mail: jayalal@igcar.gov.in [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India); Kumar, L. Satish, E-mail: satish@igcar.gov.in [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India); Jehadeesan, R., E-mail: jeha@igcar.gov.in [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India); Rajeswari, S., E-mail: raj@igcar.gov.in [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India); Satya Murty, S.A.V., E-mail: satya@igcar.gov.in [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India); Balasubramaniyan, V.; Chetal, S.C. [Indira Gandhi Centre for Atomic Research, Kalpakkam 603102, Tamil Nadu (India)

    2011-10-15

    Highlights: > We model design optimization of a vital reactor component using Genetic Algorithm. > Real-parameter Genetic Algorithm is used for steam condenser optimization study. > Comparison analysis done with various Genetic Algorithm related mechanisms. > The results obtained are validated with the reference study results. - Abstract: This work explores the use of Real-parameter Genetic Algorithm and analyses its performance in the steam condenser (or Circulating Water System) optimization study of a 500 MW fast breeder nuclear reactor. Choice of optimum design parameters for condenser for a power plant from among a large number of technically viable combination is a complex task. This is primarily due to the conflicting nature of the economic implications of the different system parameters for maximizing the capitalized profit. In order to find the optimum design parameters a Real-parameter Genetic Algorithm model is developed and applied. The results obtained are validated with the reference study results.

  15. FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain.

    Directory of Open Access Journals (Sweden)

    Thais S Rizzi

    Full Text Available Multiple lines of evidence suggest that fatty acids (FA play an important role in cognitive function. However, little is known about the functional genetic pathways involved in cognition. The main goals of this study were to replicate previously reported interaction effects between breast feeding (BF and FA desaturase (FADS genetic variation on IQ and to investigate the possible mechanisms by which these variants might moderate BF effect, focusing on brain expression. Using a sample of 534 twins, we observed a trend in the moderation of BF effects on IQ by FADS2 variation. In addition, we made use of publicly available gene expression databases from both humans (193 and mice (93 and showed that FADS2 variants also correlate with FADS1 brain expression (P-value<1.1E-03. Our results provide novel clues for the understanding of the genetic mechanisms regulating FA brain expression and improve the current knowledge of the FADS moderation effect on cognition.

  16. Combining ability and mode of inheritance of stem thickness in forage sorghum (Sorghum bicolor L. Moench F1 hybrids

    Directory of Open Access Journals (Sweden)

    Pataki Imre

    2011-01-01

    Full Text Available Aim of this research was determination of mode of inheritance, gene effects components of genetic variance, combining abilities, average contribution of lines and testers and their interactions in expression of stem thickness in forage sorghum F1 generation. Method line x tester was applied. Material comprised of eight genetically divergent A-inbred lines of grain sorghum three R lines-testers of Sudan grass and twenty-four F1 hybrids obtained by crossing lines with testers. Among tested genotypes there were significant differences in mean values of stem thickness. Analysis of variance of combining abilities showed that there were highly significant differences for general combining abilities (GCA and specific combining abilities (SCA non-additive component of genetic variance (dominance and epistasis had greater portion in total genetic variance for stem thickness. During the first research year, interaction between inbred maternal line with testers had the largest contribution in expression of stem thickness of F1 hybrid at both locations, while in the second year at location Rimski Šančevi the largest contribution belongs to lines and at location Mačvanski Prnjavor the largest contribution belongs to testers. Assessment of combining abilities showed that these inbred lines of grain sorghum can be used as mothers: SS-1 646, SS-1 688 and S-8 682 in breeding forage sorghum for thicker stem. According to SCA, promising forage sorghum hybrids are S-8 682 x ST-R lin H and P-21 656 x C-198. This research can be of importance for developing new high-yielding forage sorghum hybrids.

  17. Analysis of genetic relationships of mulberry ( Morus L. ) germplasm ...

    African Journals Online (AJOL)

    ... bands and 6.9 bands per primer combination. Mean gene diversity and PIC were 0.1611 and 0.1353, respectively. The genetic similarity coefficient ranged from 0.6905 to 0.9524, with an average of 0.8330. The phylogenetic tree was obtained using the UPGMA method using the total number of amplified SRAP fragments.

  18. The efficiency of mitochondrial DNA markers in constructing genetic ...

    African Journals Online (AJOL)

    Administrator

    2011-05-30

    May 30, 2011 ... To date, only parts of mitochondrial DNA from cytochrome b, 12S rRNA, 16S rRNA and non-coding D- loop had been sequenced for different species of Oryx. Discrepancy in the genetic relationship among. Oryx species was previously revealed when combinations of these sequences were analyzed. In the.

  19. Dual Sticky Hierarchical Dirichlet Process Hidden Markov Model and Its Application to Natural Language Description of Motions.

    Science.gov (United States)

    Hu, Weiming; Tian, Guodong; Kang, Yongxin; Yuan, Chunfeng; Maybank, Stephen

    2017-09-25

    In this paper, a new nonparametric Bayesian model called the dual sticky hierarchical Dirichlet process hidden Markov model (HDP-HMM) is proposed for mining activities from a collection of time series data such as trajectories. All the time series data are clustered. Each cluster of time series data, corresponding to a motion pattern, is modeled by an HMM. Our model postulates a set of HMMs that share a common set of states (topics in an analogy with topic models for document processing), but have unique transition distributions. For the application to motion trajectory modeling, topics correspond to motion activities. The learnt topics are clustered into atomic activities which are assigned predicates. We propose a Bayesian inference method to decompose a given trajectory into a sequence of atomic activities. On combining the learnt sources and sinks, semantic motion regions, and the learnt sequence of atomic activities, the action represented by the trajectory can be described in natural language in as automatic a way as possible. The effectiveness of our dual sticky HDP-HMM is validated on several trajectory datasets. The effectiveness of the natural language descriptions for motions is demonstrated on the vehicle trajectories extracted from a traffic scene.

  20. The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.

    Science.gov (United States)

    Calafell, Francesc; Larmuseau, Maarten H D

    2017-05-01

    The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research.

  1. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    OpenAIRE

    de la Hoya, Miguel; Soukarieh, Omar; L��pez-Perolio, Irene; Vega, Ana; Walker, Logan C.; van Ierland, Yvette; Baralle, Diana; Santamari��a, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara

    2016-01-01

    A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, ...

  2. Dual gene activation and knockout screen reveals directional dependencies in genetic networks. | Office of Cancer Genomics

    Science.gov (United States)

    Understanding the direction of information flow is essential for characterizing how genetic networks affect phenotypes. However, methods to find genetic interactions largely fail to reveal directional dependencies. We combine two orthogonal Cas9 proteins from Streptococcus pyogenes and Staphylococcus aureus to carry out a dual screen in which one gene is activated while a second gene is deleted in the same cell. We analyze the quantitative effects of activation and knockout to calculate genetic interaction and directionality scores for each gene pair.

  3. Capacidade combinatória, divergência genética entre linhagens de milho e correlação com heterose Combining ability, genetic divergence among maize lines and correlation with heterosis

    Directory of Open Access Journals (Sweden)

    Maria Elisa Ayres Guidetti Zagatto Paterniani

    2008-01-01

    Full Text Available Objetivou-se avaliar o desempenho de híbridos simples de milho (Zea mays L., obtidos de cruzamentos dialélicos entre linhagens divergentes, estimar a capacidade de combinação das linhagens e verificar se a divergência genética entre as linhagens, obtida por marcadores moleculares, é correlacionada com a heterose dos híbridos simples no campo. Trinta e seis híbridos resultantes de um dialelo parcial foram avaliados em Campinas e em Mococa e as 12 linhagens parentais somente em Campinas, a fim de se calcular a heterose dos híbridos. O delineamento experimental empregado foi o de blocos ao acaso, com três repetições e 2 testemunhas comerciais. Avaliaram-se os caracteres: altura da planta (AP, altura da espiga (AE e massa de grãos (MG. Análises de variância foram efetuadas, sendo as médias comparadas entre si pelo teste de Tukey a 5%. A capacidade de combinação das linhagens foi obtida de acordo com o método de Geraldi e Miranda Filho. Estimaram-se as correlações entre heterose, produtividade e capacidade específica de combinação com divergência genética obtida por AFLP e SSR. Destacou-se o híbrido PM624 x IP398, e as linhagens VER266 e L105 revelaram efeitos positivos da capacidade de combinação para produtividade. As estimativas de heterose variaram de -559 a 6.320 kg ha-1. Não houve correlação entre heterose, capacidade específica de combinação e produtividade dos híbridos com a distância genética por AFLP e SSR, indicando que não é possível fazer inferências sobre o comportamento dos híbridos de milho a partir da divergência genética entre as linhagens parentais.The objectives of this research were to evaluate single cross hybrids of maize (Zea mays L. obtained from partial diallel crosses among contrasting inbred lines, to estimate the combining ability of the lines and to verify whether the genetic diversity among those lines assessed by moleculars markers is correlated with single cross hybrid

  4. Lessons learnt during the design, construction and start-up phase of a molten salt testing facility

    International Nuclear Information System (INIS)

    Rodríguez-García, Margarita-Manuela; Herrador-Moreno, Miguel; Zarza Moya, Eduardo

    2014-01-01

    In 2010, CIEMAT (Centro de investigaciones energéticas medioambientales y tecnológicas) signed a turn-key contract to have an experimental plant for thermal storage using molten salts at its PSA (Plataforma Solar de Almeria) facilities. This plant was designed to evaluate components, instrumentation and operation strategies and to give support to the industry in the qualification and evaluation of components. During the design, construction and start-up phases of this plant, many different aspects regarding design, construction and commissioning have been learnt and these will contribute to the improvement of other plants. Among other tips explained in the paper, we recommend the use of venting valves to eliminate the water present in the system after the pressure test or released by the salts during the first melting. The selection of instrumentation with no electronic components near a heat source, thus preventing them from overheating, is also advisable. The heat exchanger design and dimensioning should take into account not only the thermal losses to the atmosphere and through pipes and supports, but any possible reduction in the heat exchange surface that could have detrimental consequences in the thermal performance. Special attention must be paid when dimensioning and installing the EHT and insulation because both components are decisive in the avoidance of plug formation. Its correct installation in valves and supports and the proper positioning of the temperature control sensors, i.e. where no other heat source can distort the readings, are crucial. Recommendations and strategies for the operation and shutdown of this experimental plant are being gathered for a future paper. -- Highlights: • Description of the experimental molten salt storage system built at CIEMAT. • Design technical considerations for an experimental molten salt storage plant. • Hints for piping and heat exchangers design and thermal losses calculation. • Recommendations for

  5. Genetic diversity analysis of common beans based on molecular markers

    Directory of Open Access Journals (Sweden)

    Homar R. Gill-Langarica

    2011-01-01

    Full Text Available A core collection of the common bean (Phaseolus vulgaris L., representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each, as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP +3/+3 primer combinations and seven simple sequence repeats (SSR loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA and molecular variance (AMOVA analyses. AFLP analysis produced 530 bands (88.5% polymorphic while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus. AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  6. Genetic diversity analysis of common beans based on molecular markers

    Directory of Open Access Journals (Sweden)

    Homar R. Gill-Langarica

    Full Text Available A core collection of the common bean (Phaseolus vulgaris L., representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each, as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP +3/+3 primer combinations and seven simple sequence repeats (SSR loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA and molecular variance (AMOVA analyses. AFLP analysis produced 530 bands (88.5% polymorphic while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus. AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  7. Genetic diversity analysis of common beans based on molecular markers.

    Science.gov (United States)

    Gill-Langarica, Homar R; Muruaga-Martínez, José S; Vargas-Vázquez, M L Patricia; Rosales-Serna, Rigoberto; Mayek-Pérez, Netzahualcoyotl

    2011-10-01

    A core collection of the common bean (Phaseolus vulgaris L.), representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico) Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions) was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each), as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP) +3/+3 primer combinations and seven simple sequence repeats (SSR) loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA) and molecular variance (AMOVA) analyses. AFLP analysis produced 530 bands (88.5% polymorphic) while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus). AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  8. A steady-State Genetic Algorithm with Resampling for Noisy Inventory Control

    NARCIS (Netherlands)

    Prestwich, S.; Tarim, S.A.; Rossi, R.; Hnich, B.

    2008-01-01

    Noisy fitness functions occur in many practical applications of evolutionary computation. A standard technique for solving these problems is fitness resampling but this may be inefficient or need a large population, and combined with elitism it may overvalue chromosomes or reduce genetic diversity.

  9. BEGIN Partnership: Using Problem-Based Learning to Teach Genetics & Bioethics

    Science.gov (United States)

    Markowitz, Dina; DuPre, Michael J.; Holt, Susan; Chen, Shaw-Ree; Wischnowski, Michael

    2008-01-01

    A science education center at a university medical school had grant funding to develop a genetics curriculum unit, but needed a dissemination plan. A statewide science teacher organization that provided professional development training was facing decreased funding. These two groups combined their efforts, and created a unique partnership, called…

  10. Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

    Science.gov (United States)

    Raspberry, Kelly; Skinner, Debra

    2007-01-01

    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

  11. Considering genetic characteristics in German Holstein breeding programs.

    Science.gov (United States)

    Segelke, D; Täubert, H; Reinhardt, F; Thaller, G

    2016-01-01

    Recently, several research groups have demonstrated that several haplotypes may cause embryonic loss in the homozygous state. Up to now, carriers of genetic disorders were often excluded from mating, resulting in a decrease of genetic gain and a reduced number of sires available for the breeding program. Ongoing research is very likely to identify additional genetic defects causing embryonic loss and calf mortality by genotyping a large proportion of the female cattle population and sequencing key ancestors. Hence, a clear demand is present to develop a method combining selection against recessive defects (e.g., Holstein haplotypes HH1-HH5) with selection for economically beneficial traits (e.g., polled) for mating decisions. Our proposed method is a genetic index that accounts for the allele frequencies in the population and the economic value of the genetic characteristic without excluding carriers from breeding schemes. Fertility phenotypes from routine genetic evaluations were used to determine the economic value per embryo lost. Previous research has shown that embryo loss caused by HH1 and HH2 occurs later than the loss for HH3, HH4, and HH5. Therefore, an economic value of € 97 was used against HH1 and HH2 and € 70 against HH3, HH4, and HH5. For polled, € 7 per polled calf was considered. Minor allele frequencies of the defects ranged between 0.8 and 3.3%. The polled allele has a frequency of 4.1% in the German Holstein population. A genomic breeding program was simulated to study the effect of changing the selection criteria from assortative mating based on breeding values to selecting the females using the genetic index. Selection for a genetic index on the female path is a useful method to control the allele frequencies by reducing undesirable alleles and simultaneously increasing economical beneficial characteristics maintaining most of the genetic gain in production and functional traits. Additionally, we applied the genetic index to real data and

  12. Analytical optimal pulse shapes obtained with the aid of genetic algorithms

    International Nuclear Information System (INIS)

    Guerrero, Rubén D.; Arango, Carlos A.; Reyes, Andrés

    2015-01-01

    We propose a methodology to design optimal pulses for achieving quantum optimal control on molecular systems. Our approach constrains pulse shapes to linear combinations of a fixed number of experimentally relevant pulse functions. Quantum optimal control is obtained by maximizing a multi-target fitness function using genetic algorithms. As a first application of the methodology, we generated an optimal pulse that successfully maximized the yield on a selected dissociation channel of a diatomic molecule. Our pulse is obtained as a linear combination of linearly chirped pulse functions. Data recorded along the evolution of the genetic algorithm contained important information regarding the interplay between radiative and diabatic processes. We performed a principal component analysis on these data to retrieve the most relevant processes along the optimal path. Our proposed methodology could be useful for performing quantum optimal control on more complex systems by employing a wider variety of pulse shape functions

  13. Analytical optimal pulse shapes obtained with the aid of genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Guerrero, Rubén D., E-mail: rdguerrerom@unal.edu.co [Department of Physics, Universidad Nacional de Colombia, Bogota (Colombia); Arango, Carlos A. [Department of Chemical Sciences, Universidad Icesi, Cali (Colombia); Reyes, Andrés [Department of Chemistry, Universidad Nacional de Colombia, Bogota (Colombia)

    2015-09-28

    We propose a methodology to design optimal pulses for achieving quantum optimal control on molecular systems. Our approach constrains pulse shapes to linear combinations of a fixed number of experimentally relevant pulse functions. Quantum optimal control is obtained by maximizing a multi-target fitness function using genetic algorithms. As a first application of the methodology, we generated an optimal pulse that successfully maximized the yield on a selected dissociation channel of a diatomic molecule. Our pulse is obtained as a linear combination of linearly chirped pulse functions. Data recorded along the evolution of the genetic algorithm contained important information regarding the interplay between radiative and diabatic processes. We performed a principal component analysis on these data to retrieve the most relevant processes along the optimal path. Our proposed methodology could be useful for performing quantum optimal control on more complex systems by employing a wider variety of pulse shape functions.

  14. Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy.

    Science.gov (United States)

    Simpson, Siobhan; Dunning, Mark D; Brownlie, Serena; Patel, Janika; Godden, Megan; Cobb, Malcolm; Mongan, Nigel P; Rutland, Catrin S

    2016-01-01

    Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH) is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM), yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

  15. Multiple Genetic Associations with Irish Wolfhound Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Siobhan Simpson

    2016-01-01

    Full Text Available Cardiac disease is a leading cause of morbidity and mortality in dogs and humans, with dilated cardiomyopathy being a large contributor to this. The Irish Wolfhound (IWH is one of the most commonly affected breeds and one of the few breeds with genetic loci associated with the disease. Mutations in more than 50 genes are associated with human dilated cardiomyopathy (DCM, yet very few are also associated with canine DCM. Furthermore, none of the identified canine loci explain many cases of the disease and previous work has indicated that genotypes at multiple loci may act together to influence disease development. In this study, loci previously associated with DCM in IWH were tested for associations in a new cohort both individually and in combination. We have identified loci significantly associated with the disease individually, but no genotypes individually or in pairs conferred a significantly greater risk of developing DCM than the population risk. However combining three loci together did result in the identification of a genotype which conferred a greater risk of disease than the overall population risk. This study suggests multiple rather than individual genetic factors, cooperating to influence DCM risk in IWH.

  16. "What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

    Science.gov (United States)

    Shaw, Alison; Hurst, Jane A

    2008-08-01

    Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance.

  17. Nitrate leaching from a potato field using fuzzy inference system combined with genetic algorithm

    DEFF Research Database (Denmark)

    Shekofteh, Hosein; Afyuni, Majid M; Hajabbasi, Mohammad-Ali

    2012-01-01

    in MFIS were tuned by Genetic Algorithm. The correlation coefficient, normalized root mean square error and relative mean absolute error percentage between the data obtained by HYDRUS-2D and the estimated values using MFIS model were 0.986, 0.086 and 2.38 respectively. It appears that MFIS can predict......The conventional application of nitrogen fertilizers via irrigation is likely to be responsible for the increased nitrate concentration in groundwater of areas dominated by irrigated agriculture. This requires appropriate water and nutrient management to minimize groundwater pollution...

  18. Accurate recapture identification for genetic mark–recapture studies with error-tolerant likelihood-based match calling and sample clustering

    Science.gov (United States)

    Sethi, Suresh; Linden, Daniel; Wenburg, John; Lewis, Cara; Lemons, Patrick R.; Fuller, Angela K.; Hare, Matthew P.

    2016-01-01

    Error-tolerant likelihood-based match calling presents a promising technique to accurately identify recapture events in genetic mark–recapture studies by combining probabilities of latent genotypes and probabilities of observed genotypes, which may contain genotyping errors. Combined with clustering algorithms to group samples into sets of recaptures based upon pairwise match calls, these tools can be used to reconstruct accurate capture histories for mark–recapture modelling. Here, we assess the performance of a recently introduced error-tolerant likelihood-based match-calling model and sample clustering algorithm for genetic mark–recapture studies. We assessed both biallelic (i.e. single nucleotide polymorphisms; SNP) and multiallelic (i.e. microsatellite; MSAT) markers using a combination of simulation analyses and case study data on Pacific walrus (Odobenus rosmarus divergens) and fishers (Pekania pennanti). A novel two-stage clustering approach is demonstrated for genetic mark–recapture applications. First, repeat captures within a sampling occasion are identified. Subsequently, recaptures across sampling occasions are identified. The likelihood-based matching protocol performed well in simulation trials, demonstrating utility for use in a wide range of genetic mark–recapture studies. Moderately sized SNP (64+) and MSAT (10–15) panels produced accurate match calls for recaptures and accurate non-match calls for samples from closely related individuals in the face of low to moderate genotyping error. Furthermore, matching performance remained stable or increased as the number of genetic markers increased, genotyping error notwithstanding.

  19. Enabling complex genetic circuits to respond to extrinsic environmental signals.

    Science.gov (United States)

    Hoynes-O'Connor, Allison; Shopera, Tatenda; Hinman, Kristina; Creamer, John Philip; Moon, Tae Seok

    2017-07-01

    Genetic circuits have the potential to improve a broad range of metabolic engineering processes and address a variety of medical and environmental challenges. However, in order to engineer genetic circuits that can meet the needs of these real-world applications, genetic sensors that respond to relevant extrinsic and intrinsic signals must be implemented in complex genetic circuits. In this work, we construct the first AND and NAND gates that respond to temperature and pH, two signals that have relevance in a variety of real-world applications. A previously identified pH-responsive promoter and a temperature-responsive promoter were extracted from the E. coli genome, characterized, and modified to suit the needs of the genetic circuits. These promoters were combined with components of the type III secretion system in Salmonella typhimurium and used to construct a set of AND gates with up to 23-fold change. Next, an antisense RNA was integrated into the circuit architecture to invert the logic of the AND gate and generate a set of NAND gates with up to 1168-fold change. These circuits provide the first demonstration of complex pH- and temperature-responsive genetic circuits, and lay the groundwork for the use of similar circuits in real-world applications. Biotechnol. Bioeng. 2017;114: 1626-1631. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  20. Molecular genetic gene-environment studies using candidate genes in schizophrenia: a systematic review.

    Science.gov (United States)

    Modinos, Gemma; Iyegbe, Conrad; Prata, Diana; Rivera, Margarita; Kempton, Matthew J; Valmaggia, Lucia R; Sham, Pak C; van Os, Jim; McGuire, Philip

    2013-11-01

    The relatively high heritability of schizophrenia suggests that genetic factors play an important role in the etiology of the disorder. On the other hand, a number of environmental factors significantly influence its incidence. As few direct genetic effects have been demonstrated, and there is considerable inter-individual heterogeneity in the response to the known environmental factors, interactions between genetic and environmental factors may be important in determining whether an individual develops the disorder. To date, a considerable number of studies of gene-environment interactions (G×E) in schizophrenia have employed a hypothesis-based molecular genetic approach using candidate genes, which have led to a range of different findings. This systematic review aims to summarize the results from molecular genetic candidate studies and to review challenges and opportunities of this approach in psychosis research. Finally, we discuss the potential of future prospects, such as new studies that combine hypothesis-based molecular genetic candidate approaches with agnostic genome-wide association studies in determining schizophrenia risk. © 2013 Elsevier B.V. All rights reserved.

  1. Therapeutic strategies and genetic profile comparisons in small cell carcinoma and large cell neuroendocrine carcinoma of the lung using next-generation sequencing.

    Science.gov (United States)

    Ito, Masaoki; Miyata, Yoshihiro; Hirano, Shoko; Kimura, Shingo; Irisuna, Fumiko; Ikeda, Kyoko; Kushitani, Kei; Tsutani, Yasuhiro; Ueda, Daisuke; Tsubokawa, Norifumi; Takeshima, Yukio; Okada, Morihito

    2017-12-12

    Small cell lung cancer (SCLC) and large cell neuroendocrine carcinoma (LCNEC) of the lung are classified as variants of endocrine carcinoma and subdivided into pure or combined type. Clinical benefit of target therapy has not been established in these tumors. This study aimed to compare genetic and clinicopathological features between SCLC and LCNEC or pure and combined types, and explore the possibility of target therapy using next-generation sequencing. In 13 SCLC and 22 LCNEC cases, 72 point mutations, 19 deletions, and 3 insertions were detected. As therapeutically targetable variants, mutations in EGFR (L858R), KRAS (G12D, G12A, G12V), and PIK3CA (E545K) were detected in 5 cases. The case harboring EGFR mutation showed response to EGFR-tyrosine kinase inhibitor. However, there are no clinicopathological features associated with therapeutically targetable cases. And there was no significant genetic feature between SCLC and LCNEC or pure and combined types. In conclusion, although patients with SCLC and LCNEC may benefit from target therapy, they were not identifiable by clinicopathologic background. And there was not significant genetic difference between SCLC and LCNEC, including between pure and combined types. Classifying SCLC and LCNEC in same category is reasonable. However, distinguishing the pure type from combined type was not validated. Comprehensive genetic analysis should be performed to detect targetable variants in any type of SCLC and LCNEC.

  2. Introduction to focus issue: quantitative approaches to genetic networks.

    Science.gov (United States)

    Albert, Réka; Collins, James J; Glass, Leon

    2013-06-01

    All cells of living organisms contain similar genetic instructions encoded in the organism's DNA. In any particular cell, the control of the expression of each different gene is regulated, in part, by binding of molecular complexes to specific regions of the DNA. The molecular complexes are composed of protein molecules, called transcription factors, combined with various other molecules such as hormones and drugs. Since transcription factors are coded by genes, cellular function is partially determined by genetic networks. Recent research is making large strides to understand both the structure and the function of these networks. Further, the emerging discipline of synthetic biology is engineering novel gene circuits with specific dynamic properties to advance both basic science and potential practical applications. Although there is not yet a universally accepted mathematical framework for studying the properties of genetic networks, the strong analogies between the activation and inhibition of gene expression and electric circuits suggest frameworks based on logical switching circuits. This focus issue provides a selection of papers reflecting current research directions in the quantitative analysis of genetic networks. The work extends from molecular models for the binding of proteins, to realistic detailed models of cellular metabolism. Between these extremes are simplified models in which genetic dynamics are modeled using classical methods of systems engineering, Boolean switching networks, differential equations that are continuous analogues of Boolean switching networks, and differential equations in which control is based on power law functions. The mathematical techniques are applied to study: (i) naturally occurring gene networks in living organisms including: cyanobacteria, Mycoplasma genitalium, fruit flies, immune cells in mammals; (ii) synthetic gene circuits in Escherichia coli and yeast; and (iii) electronic circuits modeling genetic networks

  3. GENETIC DIVERSITY OF WINTER BREAD WHEAT (Triticum aestivum L. ssp. vulgare

    Directory of Open Access Journals (Sweden)

    Sonja Petrović

    2011-06-01

    Full Text Available Diversity was analyzed based on agronomic and morphologic traits and molecular data. The main objectives of this study were: 1. to estimate genetic diversity of wheat germplasm using agronomic and morphologic traits and molecular markers, 2. to investigate the existence of genetic erosion within tested wheat germplasm, 3. to explore potential utilization of combination of agronomic, morphologic and molecular markers in plant breeding. Forty winter bread wheat varieties were used originating from Croatia, Austria, France, Italy and Russia. Field trial was conducted during two vegetation years (2007/2008, 2008/2009 in three replications according to randomized block design. Ten traits were included in agronomic and morphologic analysis. Composition of high molecular weight glutenin subunits (HMW GS was evaluated for 16 varieties, whereas literature data are used for the rest. Starch composition analysis was based on amylose and amylopectin isolation, their quantity and ratio. For the SSR analysis 26 microsatellite primers were used, and for the AFLP analysis four primer combinations. Statistical analysis was performed using SAS Software 9.1.3, NTSYS ver.2.2., Arlequin ver2.0. and Powermarker ver.3.25. Analyzed varieties displayed highly significant differences (p<0,001 for all agronomic traits and for amylose/amylopectin ratio. High variability of HMW GS was found among varieties. Estimation of genetic diversity based on morphologic and molecular data were used to construct dendograms. AMOVA was used to evaluate variability based on molecular data. Genetic diversity was estimated among and within morphologic and molecular data. SSR and AFLP markers showed efficient discrimination power between highly related genotypes. Significant correlation was found out between two molecular methods which showed more accurate estimate of genetic diversity than by agronomic and morphologic data.

  4. Preliminary genetic linkage map of Miscanthus sinensis with RAPD markers

    NARCIS (Netherlands)

    Atienza, S.G.; Satovic, Z.; Petersen, K.K.; Dolstra, O.; Martin, A.

    2002-01-01

    We have used an "offspring cross" mapping strategy in combination with the random amplified polymorphic DNA (RAPD) assay to construct the first genetic map of the species Miscanthus sinensis (2n = 2x = 38). This map is based on an outbred population of 89 individuals resulting from the cross between

  5. Parametric analysis and optimization for a combined power and refrigeration cycle

    International Nuclear Information System (INIS)

    Wang Jiangfeng; Dai Yiping; Gao Lin

    2008-01-01

    A combined power and refrigeration cycle is proposed, which combines the Rankine cycle and the absorption refrigeration cycle. This combined cycle uses a binary ammonia-water mixture as the working fluid and produces both power output and refrigeration output simultaneously with only one heat source. A parametric analysis is conducted to evaluate the effects of thermodynamic parameters on the performance of the combined cycle. It is shown that heat source temperature, environment temperature, refrigeration temperature, turbine inlet pressure, turbine inlet temperature, and basic solution ammonia concentration have significant effects on the net power output, refrigeration output and exergy efficiency of the combined cycle. A parameter optimization is achieved by means of genetic algorithm to reach the maximum exergy efficiency. The optimized exergy efficiency is 43.06% under the given condition

  6. A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.

    Science.gov (United States)

    Khanna, Kashish; Sharma, Shilpa; Pabalan, Noel; Singh, Neetu; Gupta, D K

    2018-01-01

    Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included. A paradigm shift was observed from the earlier studies concentrating on genetic aberrations in specific pathways to genome wide arrays exploring single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) in ARM patients. Rare CNVs (including 79 genes) and SNPs have been found to genetically contribute to ARM. Out of disrupted 79 genes one such putative gene is DKK4. Down regulation of CDX-1 gene has also been implicated in isolated ARM patients. In syndromic ARM de novo microdeletion at 17q12 and a few others have been identified. Major genetic aberrations proposed in the pathogenesis of ARM affect members of the Wnt, Hox (homebox) genes, Sonic hedgehog (Shh) and Gli2, Bmp4, Fgf and CDX1 signalling pathways; probable targets of future molecular gene therapy.

  7. Modeling genetic imprinting effects of DNA sequences with multilocus polymorphism data

    Directory of Open Access Journals (Sweden)

    Staud Roland

    2009-08-01

    Full Text Available Abstract Single nucleotide polymorphisms (SNPs represent the most widespread type of DNA sequence variation in the human genome and they have recently emerged as valuable genetic markers for revealing the genetic architecture of complex traits in terms of nucleotide combination and sequence. Here, we extend an algorithmic model for the haplotype analysis of SNPs to estimate the effects of genetic imprinting expressed at the DNA sequence level. The model provides a general procedure for identifying the number and types of optimal DNA sequence variants that are expressed differently due to their parental origin. The model is used to analyze a genetic data set collected from a pain genetics project. We find that DNA haplotype GAC from three SNPs, OPRKG36T (with two alleles G and T, OPRKA843G (with alleles A and G, and OPRKC846T (with alleles C and T, at the kappa-opioid receptor, triggers a significant effect on pain sensitivity, but with expression significantly depending on the parent from which it is inherited (p = 0.008. With a tremendous advance in SNP identification and automated screening, the model founded on haplotype discovery and statistical inference may provide a useful tool for genetic analysis of any quantitative trait with complex inheritance.

  8. Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry.

    Science.gov (United States)

    Newson, Ainsley J; Tiller, Jane; Keogh, Louise A; Otlowski, Margaret; Lacaze, Paul

    2017-01-01

    Regulating the use of genetic information in insurance is an issue of ongoing international debate. In Australia, providers of life and other mutually rated insurance products can request applicants to disclose all results from any genetic test. Insurers can then use this information to adjust premiums and make policy decisions. The Australian Financial Services Council (FSC; an industry body) developed and maintains the relevant industry standard, which was updated in late 2016. Aims/Objective: To review the 2016 FSC Standard in light of relevant research and determine the legitimacy of the Australian regulatory environment regarding use of genetic information by insurers. We identified five concerns arising from the 2016 FSC Standard: (1) use of results obtained from research; (2) the requirement for an applicant to disclose whether they are "considering" a genetic test; (3) failure to account for genome sequencing and other technology developments; (4) limited evidence regarding adverse selection; and (5) the inappropriateness of industry self-regulation. Industry self-regulation of the use of genetic information by life insurers, combined with a lack of government oversight, is inappropriate and threatens to impede the progress of genomic medicine in Australia. At this critical time, Australia requires closer government oversight of the use of genetic information in insurance. © 2017 S. Karger AG, Basel.

  9. Genetic analysis of floating Enteromorpha prolifera in the Yellow Sea with AFLP marker

    Science.gov (United States)

    Liu, Cui; Zhang, Jing; Sun, Xiaoyu; Li, Jian; Zhang, Xi; Liu, Tao

    2011-09-01

    Extremely large accumulation of green algae Enteromorpha prolifera floated along China' coastal region of the Yellow Sea ever since the summer of 2008. Amplified Fragment Length Polymorphism (AFLP) analysis was applied to assess the genetic diversity and relationships among E. prolifera samples collected from 9 affected areas of the Yellow Sea. Two hundred reproducible fragments were generated with 8 AFLP primer combinations, of which 194 (97%) were polymorphic. The average Nei's genetic diversity, the coefficiency of genetic differentiation (Gst), and the average gene flow estimated from Gst in the 9 populations were 0.4018, 0.6404 and 0.2807 respectively. Cluster analysis based on the unweighed pair group method with arithmetic averages (UPGMA) showed that the genetic relationships within one population or among different populations were all related to their collecting locations and sampling time. Large genetic differentiation was detected among the populations. The E. prolifera originated from different areas and were undergoing a course of mixing.

  10. Social and genetic interactions drive fitness variation in a free-living dolphin population.

    Science.gov (United States)

    Frère, Celine H; Krützen, Michael; Mann, Janet; Connor, Richard C; Bejder, Lars; Sherwin, William B

    2010-11-16

    The evolutionary forces that drive fitness variation in species are of considerable interest. Despite this, the relative importance and interactions of genetic and social factors involved in the evolution of fitness traits in wild mammalian populations are largely unknown. To date, a few studies have demonstrated that fitness might be influenced by either social factors or genes in natural populations, but none have explored how the combined effect of social and genetic parameters might interact to influence fitness. Drawing from a long-term study of wild bottlenose dolphins in the eastern gulf of Shark Bay, Western Australia, we present a unique approach to understanding these interactions. Our study shows that female calving success depends on both genetic inheritance and social bonds. Moreover, we demonstrate that interactions between social and genetic factors also influence female fitness. Therefore, our study represents a major methodological advance, and provides critical insights into the interplay of genetic and social parameters of fitness.

  11. Steam condenser optimization using Real-parameter Genetic Algorithm for Prototype Fast Breeder Reactor

    International Nuclear Information System (INIS)

    Jayalal, M.L.; Kumar, L. Satish; Jehadeesan, R.; Rajeswari, S.; Satya Murty, S.A.V.; Balasubramaniyan, V.; Chetal, S.C.

    2011-01-01

    Highlights: → We model design optimization of a vital reactor component using Genetic Algorithm. → Real-parameter Genetic Algorithm is used for steam condenser optimization study. → Comparison analysis done with various Genetic Algorithm related mechanisms. → The results obtained are validated with the reference study results. - Abstract: This work explores the use of Real-parameter Genetic Algorithm and analyses its performance in the steam condenser (or Circulating Water System) optimization study of a 500 MW fast breeder nuclear reactor. Choice of optimum design parameters for condenser for a power plant from among a large number of technically viable combination is a complex task. This is primarily due to the conflicting nature of the economic implications of the different system parameters for maximizing the capitalized profit. In order to find the optimum design parameters a Real-parameter Genetic Algorithm model is developed and applied. The results obtained are validated with the reference study results.

  12. The multiple genetic causes of central hypothyroidism.

    Science.gov (United States)

    Persani, Luca; Bonomi, Marco

    2017-03-01

    An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in patients with a previously unknown pituitary involvement. A series of genetic defects have been described to account for isolated CeH or combined pituitary hormone defects (CPHDs) with variable clinical characteristics and degrees of severity. The recently identified candidate gene IGSF1 appears frequently involved. This review provides an updated illustration of the different genetic defects accounting for CeH. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Genetics and regulation of combined abiotic and biotic stress tolerance in tomato

    NARCIS (Netherlands)

    Kissoudis, C.

    2016-01-01

    Projections on the impact of climate change on agricultural productivity foresee prolonged and/or increased stress intensities and enlargement of a significant number of pathogens habitats. This significantly raises the occurrence probability of (new) abiotic and biotic stress combinations. With

  14. Abdomen disease diagnosis in CT images using flexiscale curvelet transform and improved genetic algorithm.

    Science.gov (United States)

    Sethi, Gaurav; Saini, B S

    2015-12-01

    This paper presents an abdomen disease diagnostic system based on the flexi-scale curvelet transform, which uses different optimal scales for extracting features from computed tomography (CT) images. To optimize the scale of the flexi-scale curvelet transform, we propose an improved genetic algorithm. The conventional genetic algorithm assumes that fit parents will likely produce the healthiest offspring that leads to the least fit parents accumulating at the bottom of the population, reducing the fitness of subsequent populations and delaying the optimal solution search. In our improved genetic algorithm, combining the chromosomes of a low-fitness and a high-fitness individual increases the probability of producing high-fitness offspring. Thereby, all of the least fit parent chromosomes are combined with high fit parent to produce offspring for the next population. In this way, the leftover weak chromosomes cannot damage the fitness of subsequent populations. To further facilitate the search for the optimal solution, our improved genetic algorithm adopts modified elitism. The proposed method was applied to 120 CT abdominal images; 30 images each of normal subjects, cysts, tumors and stones. The features extracted by the flexi-scale curvelet transform were more discriminative than conventional methods, demonstrating the potential of our method as a diagnostic tool for abdomen diseases.

  15. Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

    Science.gov (United States)

    Aquilino, Carolina; Gonzalez Rubio, Maria Luisa; Seco, Elena Maria; Escudero, Leticia; Corvo, Laura; Soto, Manuel; Fresno, Manuel; Malpartida, Francisco; Bonay, Pedro

    2012-01-01

    Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50) showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

  16. Elucidating the genetic architecture of reproductive ageing in the Japanese population.

    Science.gov (United States)

    Horikoshi, Momoko; Day, Felix R; Akiyama, Masato; Hirata, Makoto; Kamatani, Yoichiro; Matsuda, Koichi; Ishigaki, Kazuyoshi; Kanai, Masahiro; Wright, Hollis; Toro, Carlos A; Ojeda, Sergio R; Lomniczi, Alejandro; Kubo, Michiaki; Ong, Ken K; Perry, John R B

    2018-05-17

    Population studies elucidating the genetic architecture of reproductive ageing have been largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured by common European genetic variation. Here, we report 26 loci (all P Japanese ancestry). Highlighted genes for menopause include GNRH1, which supports a primary, rather than passive, role for hypothalamic-pituitary GnRH signalling in the timing of menopause. For puberty timing, we demonstrate an aetiological role for receptor-like protein tyrosine phosphatases by combining evidence across population genetics and pre- and peri-pubertal changes in hypothalamic gene expression in rodent and primate models. Furthermore, our findings demonstrate widespread differences in allele frequencies and effect estimates between Japanese and European associated variants, highlighting the benefits and challenges of large-scale trans-ethnic approaches.

  17. Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

    OpenAIRE

    Borecki, I B; Lathrop, G M; Bonney, G E; Yaouanq, J; Rao, D C

    1990-01-01

    Characterizing the distribution of parameters of iron metabolism by hemochromatosis genotype remains an important goal vis-à-vis potential screening strategies to identify individuals at genetic risk, since a specific marker to detect the abnormal gene has not been identified as yet. In the present investigation, we analyze serum iron values in ascertained families using a method which incorporates both segregation of the clinical affection status and the HLA linkage information to identify t...

  18. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. combining ability of quality characteristics of wheat cultivars grown

    African Journals Online (AJOL)

    ACSS

    Genetic diversity among promising parents, F1 and F2 progeny can be combined for high quality characteristics through gene pyramiding. ... trouvée parmi les parents, les progégénies F1 et F2 pour toutes les caractéristiques. Dans la progénie F1, Wanda ..... Thus, both kinds of gene effects were important in controlling the.

  20. Denoising of genetic switches based on Parrondo's paradox

    Science.gov (United States)

    Fotoohinasab, Atiyeh; Fatemizadeh, Emad; Pezeshk, Hamid; Sadeghi, Mehdi

    2018-03-01

    Random decision making in genetic switches can be modeled as tossing a biased coin. In other word, each genetic switch can be considered as a game in which the reactive elements compete with each other to increase their molecular concentrations. The existence of a very small number of reactive element molecules has caused the neglect of effects of noise to be inevitable. Noise can lead to undesirable cell fate in cellular differentiation processes. In this paper, we study the robustness to noise in genetic switches by considering another switch to have a new gene regulatory network (GRN) in which both switches have been affected by the same noise and for this purpose, we will use Parrondo's paradox. We introduce two networks of games based on possible regulatory relations between genes. Our results show that the robustness to noise can increase by combining these noisy switches. We also describe how one of the switches in network II can model lysis/lysogeny decision making of bacteriophage lambda in Escherichia coli and we change its fate by another switch.

  1. Weight optimization of plane truss using genetic algorithm

    Science.gov (United States)

    Neeraja, D.; Kamireddy, Thejesh; Santosh Kumar, Potnuru; Simha Reddy, Vijay

    2017-11-01

    Optimization of structure on basis of weight has many practical benefits in every engineering field. The efficiency is proportionally related to its weight and hence weight optimization gains prime importance. Considering the field of civil engineering, weight optimized structural elements are economical and easier to transport to the site. In this study, genetic optimization algorithm for weight optimization of steel truss considering its shape, size and topology aspects has been developed in MATLAB. Material strength and Buckling stability have been adopted from IS 800-2007 code of construction steel. The constraints considered in the present study are fabrication, basic nodes, displacements, and compatibility. Genetic programming is a natural selection search technique intended to combine good solutions to a problem from many generations to improve the results. All solutions are generated randomly and represented individually by a binary string with similarities of natural chromosomes, and hence it is termed as genetic programming. The outcome of the study is a MATLAB program, which can optimise a steel truss and display the optimised topology along with element shapes, deflections, and stress results.

  2. Genetic diversity and population structure of Sitodiplosis mosellana in Northern China.

    Directory of Open Access Journals (Sweden)

    Yun Duan

    Full Text Available The wheat midge, Sitodiplosis mosellana, is an important pest in Northern China. We tested the hypothesis that the population structure of this species arises during a range expansion over the past 30 years. This study used microsatellite and mitochondrial loci to conduct population genetic analysis of S. mosellana across its distribution range in China. We found strong genetic structure among the 16 studied populations, including two genetically distinct groups (the eastern and western groups, broadly consistent with the geography and habitat fragmentation. These results underline the importance of natural barriers in impeding dispersal and gene flow of S. mosellana populations. Low to moderate genetic diversity among the populations and moderate genetic differentiation (F ST = 0.117 between the two groups were also found. The populations in the western group had lower genetic diversity, higher genetic differentiation and lower gene flow (F ST = 0.116, Nm = 1.89 than those in the eastern group (F ST = 0.049, Nm = 4.91. Genetic distance between populations was positively and significantly correlated with geographic distance (r = 0.56, P<0.001. The population history of this species provided no evidence for population expansion or bottlenecks in any of these populations. Our data suggest that the distribution of genetic diversity, genetic differentiation and population structure of S. mosellana have resulted from a historical event, reflecting its adaptation to diverse habitats and forming two different gene pools. These results may be the outcome of a combination of restricted gene flow due to geographical and environmental factors, population history, random processes of genetic drift and individual dispersal patterns. Given the current risk status of this species in China, this study can offer useful information for forecasting outbreaks and designing effective pest management programs.

  3. A comparative phylogenetic study of genetics and folk music.

    Science.gov (United States)

    Pamjav, Horolma; Juhász, Zoltán; Zalán, Andrea; Németh, Endre; Damdin, Bayarlkhagva

    2012-04-01

    Computer-aided comparison of folk music from different nations is one of the newest research areas. We were intrigued to have identified some important similarities between phylogenetic studies and modern folk music. First of all, both of them use similar concepts and representation tools such as multidimensional scaling for modelling relationship between populations. This gave us the idea to investigate whether these connections are merely accidental or if they mirror population migrations from the past. We raised the question; does the complex structure of musical connections display a clear picture and can this system be interpreted by the genetic analysis? This study is the first to systematically investigate the incidental genetic background of the folk music context between different populations. Paternal (42 populations) and maternal lineages (56 populations) were compared based on Fst genetic distances of the Y chromosomal and mtDNA haplogroup frequencies. To test this hypothesis, the corresponding musical cultures were also compared using an automatic overlap analysis of parallel melody styles for 31 Eurasian nations. We found that close musical relations of populations indicate close genetic distances (music; maternal lineages have a more important role in folk music traditions than paternal lineages. Furthermore, the combination of these disciplines establishing a new interdisciplinary research field of "music-genetics" can be an efficient tool to get a more comprehensive picture on the complex behaviour of populations in prehistoric time.

  4. Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus

    DEFF Research Database (Denmark)

    Møller, A M; Jensen, N M; Pildal, J

    2001-01-01

    This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single-s......-tolerant subjects. In conclusion, we found no evidence supporting the hypothesis that genetic variability in the minimal promoter of the GLUT2 is associated with type 2 diabetes or prediabetic phenotypes in the Danish population.......This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single...

  5. Population genetic diversity and fitness in multiple environments

    Directory of Open Access Journals (Sweden)

    McGreevy Thomas J

    2010-07-01

    between AFLP diversity and population fitness overall; however, AFLP markers performed poorly at detecting modest but consequential losses of genetic diversity. High diversity lines in the stressful environment showed some evidence of relative improvement as the experiment progressed while the low diversity lines did not. Conclusions The combined effects of reduced average fitness and increased variability contributed to increased extinction rates for very low diversity populations. More modest losses of genetic diversity resulted in measurable decreases in population fitness; AFLP markers did not always detect these losses. However when AFLP markers indicated lost genetic diversity, these losses were associated with reduced population fitness.

  6. Prediction of breast cancer risk based on profiling with common genetic variants

    DEFF Research Database (Denmark)

    Mavaddat, Nasim; Pharoah, Paul D P; Michailidou, Kyriaki

    2015-01-01

    BACKGROUND: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. M...

  7. Prediction of breast cancer risk based on profiling with common genetic variants

    NARCIS (Netherlands)

    N. Mavaddat (Nasim); P.D.P. Pharoah (Paul); K. Michailidou (Kyriaki); J.P. Tyrer (Jonathan); M.N. Brook (Mark N.); M.K. Bolla (Manjeet); Q. Wang (Qing); J. Dennis (Joe); A.M. Dunning (Alison); M. Shah (Mitul); R.N. Luben (Robert); J. Brown (Judith); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune F.); H. Flyger (Henrik); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mikael); J. Peto (Julian); I. dos Santos Silva (Isabel); F. Dudbridge (Frank); N. Johnson (Nichola); M.K. Schmidt (Marjanka); A. Broeks (Annegien); S. Verhoef; E.J. Rutgers (Emiel J.); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Schoemaker (Minouk); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); L.A. Brinton (Louise); J. Lissowska (Jolanta); F.J. Couch (Fergus); J.E. Olson (Janet); C. Vachon (Celine); V.S. Pankratz (Shane); D. Lambrechts (Diether); H. Wildiers (Hans); C. van Ongeval (Chantal); E. van Limbergen (Erik); V. Kristensen (Vessela); G. Grenaker Alnæs (Grethe); S. Nord (Silje); A.-L. Borresen-Dale (Anne-Lise); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); J. Chang-Claude (Jenny); A. Rudolph (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); B. Burwinkel (Barbara); F. Marme (Federick); A. Schneeweiss (Andreas); C. Sohn (Christof); A. Trentham-Dietz (Amy); P. Newcomb (Polly); L. Titus (Linda); K.M. Egan (Kathleen M.); D. Hunter (David); S. Lindstrom (Stephen); R. Tamimi (Rulla); P. Kraft (Peter); N. Rahman (Nazneen); C. Turnbull (Clare); A. Renwick (Anthony); S. Seal (Sheila); J. Li (Jingmei); J. Liu (Jianjun); M.K. Humphreys (Manjeet); J. Benítez (Javier); M.P. Zamora (Pilar); J.I. Arias Pérez (José Ignacio); P. Menéndez (Primitiva); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska-Bieniek (Katarzyna); K. Durda (Katarzyna); N.V. Bogdanova (Natalia); N.N. Antonenkova (Natalia); T. Dörk (Thilo); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); A. Ziogas (Argyrios); L. Bernstein (Leslie); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); E.K. Khusnutdinova (Elza); M. Bermisheva (Marina); D. Prokofyeva (Darya); Z. Takhirova (Zalina); A. Meindl (Alfons); R.K. Schmutzler (Rita); C. Sutter (Christian); R. Yang (Rongxi); P. Schürmann (Peter); M. Bremer (Michael); H. Christiansen (Hans); T.-W. Park-Simon; P. Hillemanns (Peter); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); M. Sanchez (Marie); P. Radice (Paolo); P. Peterlongo (Paolo); S. Manoukian (Siranoush); V. Pensotti (Valeria); J. Hopper (John); H. Tsimiklis (Helen); C. Apicella (Carmel); M.C. Southey (Melissa); H. Brauch (Hiltrud); T. Brüning (Thomas); Y.-D. Ko (Yon-Dschun); A.J. Sigurdson (Alice); M.M. Doody (Michele M.); U. Hamann (Ute); D. Torres (Diana); H.U. Ulmer (Hans); A. Försti (Asta); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); A. Marie Mulligan (Anna); G. Chenevix-Trench (Georgia); R. Balleine (Rosemary); G.G. Giles (Graham); R.L. Milne (Roger); C.A. McLean (Catriona Ann); A. Lindblom (Annika); S. Margolin (Sara); C.A. Haiman (Christopher); B.E. Henderson (Brian); F. Schumacher (Fredrick); L. Le Marchand (Loic); U. Eilber (Ursula); S. Wang-Gohrke (Shan); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); A.M.W. van den Ouweland (Ans); L.B. Koppert (Lisa); J. Carpenter (Jane); C. Clarke (Christine); R.J. Scott (Rodney J.); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); H. Brenner (Hermann); V. Arndt (Volker); C. Stegmaier (Christa); A. Karina Dieffenbach (Aida); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); M. Grip (Mervi); K. Offit (Kenneth); J. Vijai (Joseph); M. Robson (Mark); R. Rau-Murthy (Rohini); M. Dwek (Miriam); R. Swann (Ruth); K. Annie Perkins (Katherine); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); D. Eccles (Diana); W. Tapper (William); M. Rafiq (Meena); E.M. John (Esther M.); A.S. Whittemore (Alice); S. Slager (Susan); D. Yannoukakos (Drakoulis); A.E. Toland (Amanda); S. Yao (Song); W. Zheng (Wei); S.L. Halverson (Sandra L.); A. González-Neira (Anna); G. Pita (Guillermo); M. Rosario Alonso; N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); C. Baynes (Caroline); S. Ahmed (Shahana); M. Maranian (Melanie); S. Healey (Sue); J. Simard (Jacques); P. Hall (Per); D.F. Easton (Douglas); M. García-Closas (Montserrat)

    2015-01-01

    textabstractBackground: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is

  8. Application of Hybrid Genetic Algorithm Routine in Optimizing Food and Bioengineering Processes

    Directory of Open Access Journals (Sweden)

    Jaya Shankar Tumuluru

    2016-11-01

    Full Text Available Optimization is a crucial step in the analysis of experimental results. Deterministic methods only converge on local optimums and require exponentially more time as dimensionality increases. Stochastic algorithms are capable of efficiently searching the domain space; however convergence is not guaranteed. This article demonstrates the novelty of the hybrid genetic algorithm (HGA, which combines both stochastic and deterministic routines for improved optimization results. The new hybrid genetic algorithm developed is applied to the Ackley benchmark function as well as case studies in food, biofuel, and biotechnology processes. For each case study, the hybrid genetic algorithm found a better optimum candidate than reported by the sources. In the case of food processing, the hybrid genetic algorithm improved the anthocyanin yield by 6.44%. Optimization of bio-oil production using HGA resulted in a 5.06% higher yield. In the enzyme production process, HGA predicted a 0.39% higher xylanase yield. Hybridization of the genetic algorithm with a deterministic algorithm resulted in an improved optimum compared to statistical methods.

  9. [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.

  10. 4th Workshop on Combinations of Intelligent Methods and Applications

    CERN Document Server

    Palade, Vasile; Prentzas, Jim

    2016-01-01

    This volume includes extended and revised versions of the papers presented at the 4th Workshop on “Combinations of Intelligent Methods and Applications” (CIMA 2014) which was intended to become a forum for exchanging experience and ideas among researchers and practitioners dealing with combinations of different intelligent methods in Artificial Intelligence. The aim is to create integrated or hybrid methods that benefit from each of their components. Some of the existing presented efforts combine soft computing methods (fuzzy logic, neural networks and genetic algorithms). Another stream of efforts integrates case-based reasoning or machine learning with soft-computing methods. Some of the combinations have been more widely explored, like neuro-symbolic methods, neuro-fuzzy methods and methods combining rule-based and case-based reasoning. CIMA 2014 was held in conjunction with the 26th IEEE International Conference on Tools with Artificial Intelligence (ICTAI 2014). .

  11. 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 ...

  12. Systematic review genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases

    DEFF Research Database (Denmark)

    Sørensen, Signe Bek; Nielsen, J V; Bo Bojesen, Anders

    2016-01-01

    BACKGROUND: Personalised medicine, including biomarkers for treatment selection, may provide new algorithms for more effective treatment of patients. Genetic variation may impact drug response and genetic markers could help selecting the best treatment strategy for the individual patient. AIM......2430561) [OR = 1.66 (1.05-2.63)], IL6 (rs10499563) [OR = 1.65 (1.04-2.63)] and IL1B (rs4848306) [OR = 1.88 (1.05-3.35)] were significantly associated with response among IBD patients using clinical response criteria. A positive predictive value of 0.96 was achieved by combining five genetic markers...... in an explorative analysis. CONCLUSIONS: There are no genetic markers currently available which are adequately predictive of anti-TNF response for use in the clinic. Genetic markers bear the advantage that they do not change over time. Therefore, hypothesis-free approaches, testing a large number of polymorphisms...

  13. Particle swarm optimization - Genetic algorithm (PSOGA) on linear transportation problem

    Science.gov (United States)

    Rahmalia, Dinita

    2017-08-01

    Linear Transportation Problem (LTP) is the case of constrained optimization where we want to minimize cost subject to the balance of the number of supply and the number of demand. The exact method such as northwest corner, vogel, russel, minimal cost have been applied at approaching optimal solution. In this paper, we use heurisitic like Particle Swarm Optimization (PSO) for solving linear transportation problem at any size of decision variable. In addition, we combine mutation operator of Genetic Algorithm (GA) at PSO to improve optimal solution. This method is called Particle Swarm Optimization - Genetic Algorithm (PSOGA). The simulations show that PSOGA can improve optimal solution resulted by PSO.

  14. Empirical valence bond models for reactive potential energy surfaces: a parallel multilevel genetic program approach.

    Science.gov (United States)

    Bellucci, Michael A; Coker, David F

    2011-07-28

    We describe a new method for constructing empirical valence bond potential energy surfaces using a parallel multilevel genetic program (PMLGP). Genetic programs can be used to perform an efficient search through function space and parameter space to find the best functions and sets of parameters that fit energies obtained by ab initio electronic structure calculations. Building on the traditional genetic program approach, the PMLGP utilizes a hierarchy of genetic programming on two different levels. The lower level genetic programs are used to optimize coevolving populations in parallel while the higher level genetic program (HLGP) is used to optimize the genetic operator probabilities of the lower level genetic programs. The HLGP allows the algorithm to dynamically learn the mutation or combination of mutations that most effectively increase the fitness of the populations, causing a significant increase in the algorithm's accuracy and efficiency. The algorithm's accuracy and efficiency is tested against a standard parallel genetic program with a variety of one-dimensional test cases. Subsequently, the PMLGP is utilized to obtain an accurate empirical valence bond model for proton transfer in 3-hydroxy-gamma-pyrone in gas phase and protic solvent. © 2011 American Institute of Physics

  15. Research and Applications of Shop Scheduling Based on Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    Hang ZHAO

    Full Text Available ABSTRACT Shop Scheduling is an important factor affecting the efficiency of production, efficient scheduling method and a research and application for optimization technology play an important role for manufacturing enterprises to improve production efficiency, reduce production costs and many other aspects. Existing studies have shown that improved genetic algorithm has solved the limitations that existed in the genetic algorithm, the objective function is able to meet customers' needs for shop scheduling, and the future research should focus on the combination of genetic algorithm with other optimized algorithms. In this paper, in order to overcome the shortcomings of early convergence of genetic algorithm and resolve local minimization problem in search process,aiming at mixed flow shop scheduling problem, an improved cyclic search genetic algorithm is put forward, and chromosome coding method and corresponding operation are given.The operation has the nature of inheriting the optimal individual ofthe previous generation and is able to avoid the emergence of local minimum, and cyclic and crossover operation and mutation operation can enhance the diversity of the population and then quickly get the optimal individual, and the effectiveness of the algorithm is validated. Experimental results show that the improved algorithm can well avoid the emergency of local minimum and is rapid in convergence.

  16. Application of the genetic algorithm to blume-emery-griffiths model: Test Cases

    International Nuclear Information System (INIS)

    Erdinc, A.

    2004-01-01

    The equilibrium properties of the Blume-Emery-Griffiths (BEO) model Hamiltonian with the arbitrary bilinear (1), biquadratic (K) and crystal field interaction (D) are studied using the genetic algorithm technique. Results are compared with lowest approximation of the cluster variation method (CVM), which is identical to the mean field approximation. We found that the genetic algorithm to be very efficient for fast search at the average fraction of the spins, especially in the early stages as the system is far from the equilibrium state. A combination of the genetic algorithm followed by one of the well-tested simulation techniques seems to be an optimal approach. The curvature of the inverse magnetic susceptibility is also presented for the stable state of the BEG model

  17. Genetic engineering including superseding microinjection: new ways to make GM pigs.

    Science.gov (United States)

    Galli, Cesare; Perota, Andrea; Brunetti, Dario; Lagutina, Irina; Lazzari, Giovanna; Lucchini, Franco

    2010-01-01

    Techniques for genetic engineering of swine are providing genetically modified animals of importance for the field of xenotransplantation, animal models for human diseases and for a variety of research applications. Many of these modifications have been directed toward avoiding naturally existing cellular and antibody responses to species-specific antigens. A number of techniques are today available to engineering the genome of mammals, these range from the well established less efficient method of DNA microinjection into the zygote, the use of viral vectors, to the more recent use of somatic cell nuclear transfer. The use of enzymatic engineering that are being developed now will refine the precision of the genetic modification combined with the use of new vectors like transposons. The use of somatic cell nuclear transfer is currently the most efficient way to generate genetically modified pigs. The development of enzymatic engineering with zinc-finger nucleases, recombinases and transposons will revolutionize the field. Nevertheless, genetic engineering in large domesticated animals will remain a challenging task. Recent improvements in several fields of cell and molecular biology offer new promises and opportunities toward an easier, cost-effective and efficient generation of transgenic pigs. © 2010 John Wiley & Sons A/S.

  18. Genetic basis of the sterile insect technique

    International Nuclear Information System (INIS)

    Robinson, A.S.

    2005-01-01

    The use of the sterile insect technique (SIT) for insect control relies on the introduction of sterility in the females of the wild population. This sterility is produced following the mating of these females with released males carrying, in their sperm, dominant lethal mutations that have been induced by ionizing radiation. The reasons why the SIT can only be effective when the induced sterility in the released males is in the form of dominant lethal mutations, and not some form of sperm inactivation, are discussed, together with the relationship of dominant lethal mutations to dose, sex, developmental stage and the particular species. The combination of genetic sterility with that induced by radiation is also discussed in relation to the use of genetic sexing strains of the Mediterranean fruit fly Ceratitis capitata (Wiedemann) in area-wide integrated pest management (AW-IPM) programmes that integrate the SIT. A case is made to lower the radiation dose used in such programmes so as to produce a more competitive sterile insect. Increased competitiveness can also be achieved by using different radiation environments. As well as radiation-induced sterility, natural mechanisms can be recruited, especially the use of hybrid sterility exemplified by a successful field trial with tsetse flies Glossina spp. in the 1940s. Genetic transformation will make some impact on the SIT, especially regarding the introduction of markers for released flies, and the construction of genetic sexing strains. It is concluded that using a physical process, such as radiation, will always have significant advantages over genetic and other methods of sterilization for the large-scale application of the SIT. (author)

  19. Accounting for genetic architecture improves sequence based genomic prediction for a Drosophila fitness trait.

    Science.gov (United States)

    Ober, Ulrike; Huang, Wen; Magwire, Michael; Schlather, Martin; Simianer, Henner; Mackay, Trudy F C

    2015-01-01

    The ability to predict quantitative trait phenotypes from molecular polymorphism data will revolutionize evolutionary biology, medicine and human biology, and animal and plant breeding. Efforts to map quantitative trait loci have yielded novel insights into the biology of quantitative traits, but the combination of individually significant quantitative trait loci typically has low predictive ability. Utilizing all segregating variants can give good predictive ability in plant and animal breeding populations, but gives little insight into trait biology. Here, we used the Drosophila Genetic Reference Panel to perform both a genome wide association analysis and genomic prediction for the fitness-related trait chill coma recovery time. We found substantial total genetic variation for chill coma recovery time, with a genetic architecture that differs between males and females, a small number of molecular variants with large main effects, and evidence for epistasis. Although the top additive variants explained 36% (17%) of the genetic variance among lines in females (males), the predictive ability using genomic best linear unbiased prediction and a relationship matrix using all common segregating variants was very low for females and zero for males. We hypothesized that the low predictive ability was due to the mismatch between the infinitesimal genetic architecture assumed by the genomic best linear unbiased prediction model and the true genetic architecture of chill coma recovery time. Indeed, we found that the predictive ability of the genomic best linear unbiased prediction model is markedly improved when we combine quantitative trait locus mapping with genomic prediction by only including the top variants associated with main and epistatic effects in the relationship matrix. This trait-associated prediction approach has the advantage that it yields biologically interpretable prediction models.

  20. Genetic Engineering and the Amelioration of Genetic Defect

    Science.gov (United States)

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…