WorldWideScience

Sample records for current genetic studies

  1. Current status and prospects for the study of Nicotiana genomics, genetics, and nicotine biosynthesis genes.

    Science.gov (United States)

    Wang, Xuewen; Bennetzen, Jeffrey L

    2015-02-01

    Nicotiana, a member of the Solanaceae family, is one of the most important research model plants, and of high agricultural and economic value worldwide. To better understand the substantial and rapid research progress with Nicotiana in recent years, its genomics, genetics, and nicotine gene studies are summarized, with useful web links. Several important genetic maps, including a high-density map of N. tabacum consisting of ~2,000 markers published in 2012, provide tools for genetics research. Four whole genome sequences are from allotetraploid species, including N. benthamiana in 2012, and three N. tabacum cultivars (TN90, K326, and BX) in 2014. Three whole genome sequences are from diploids, including progenitors N. sylvestris and N. tomentosiformis in 2013 and N. otophora in 2014. These and additional studies provide numerous insights into genome evolution after polyploidization, including changes in gene composition and transcriptome expression in N. tabacum. The major genes involved in the nicotine biosynthetic pathway have been identified and the genetic basis of the differences in nicotine levels among Nicotiana species has been revealed. In addition, other progress on chloroplast, mitochondrial, and NCBI-registered projects on Nicotiana are discussed. The challenges and prospects for genomic, genetic and application research are addressed. Hence, this review provides important resources and guidance for current and future research and application in Nicotiana.

  2. Current status and trends of wheat genetic transformation studies in China

    Institute of Scientific and Technical Information of China (English)

    HE Yi; WANG Qiong; ZENG Jian; SUN Tao; YANG Guang-xiao; HE Guang-yuan

    2015-01-01

    More than 20 years have passed since the ifrst report on successful genetic transformation of wheat. With the establishment and improvement of transformation platform, great progresses have been made on wheat genetic transformation both on its fundamental and applied studies in China, especial y driven by the National Major Project for Transgenic Organism Breed-ing, China, initiated in 2008. In this review, wheat genetic transformation platform improvement and transgenic research progresses including new techniques applied and functional studies of wheat quality, yield and stress tolerant related genes and biosafety assessment are summarized. The existing problems and the trends in wheat transformation with traditional methods combined with genomic studies and genome editing technology are also discussed.

  3. Molecular Genetic Studies of Eating Disorders: Current Status and Future Directions

    OpenAIRE

    Klump, Kelly L.; Culbert, Kristen M.

    2007-01-01

    We review association studies that have examined the genetic basis of eating disorders. Overall, findings suggest that serotonin, brain-derived neurotrophic factor, and estrogen genes may be important for the development of the disorders. These neuronal systems influence behavioral and personality characteristics (e.g., anxiety, food intake) that are disrupted in eating disorders. Future studies would benefit from larger sample sizes and inclusion of behavioral and personality covariates in a...

  4. Current developments in canine genetics.

    Science.gov (United States)

    Marschall, Yvonne; Distl, Ottmar

    2010-01-01

    In recent years, canine genetics had made huge progress. In 1999 the first complete karyotype and ideogram of the dog was published. Several linkage and RH maps followed. Using these maps, sets of microsatellite markers for whole genome scans were compiled. In 2003 the sequencing of the DNA of a female Boxer began. Now the second version of the dog genome assembly has been put online, and recently, a microchip SNP array became available. Parallel to these developments, some causal mutations for different traits have been identified. Most of the identified mutations were responsible for monogenic canine hereditary diseases. With the tools available now, it is possible to use the advantages of the population structure of the various dog breeds to unravel complex genetic traits. Furthermore, the dog is a suitable model for the research of a large number of human hereditary diseases and particularly for cancer genetics, heart and neurodegenerative diseases. There are some examples where it was possible to benefit from the knowledge of canine genetics for human research. The search for quantitative trait loci (QTL), the testing of candidate genes and genome-wide association studies can now be performed in dogs. QTL for skeletal size variations and for canine hip dysplasia have been already identified and for these complex traits the responsible genes and their possible interactions can now be identified.

  5. Ocean currents help explain population genetic structure

    Science.gov (United States)

    White, Crow; Selkoe, Kimberly A.; Watson, James; Siegel, David A.; Zacherl, Danielle C.; Toonen, Robert J.

    2010-01-01

    Management and conservation can be greatly informed by considering explicitly how environmental factors influence population genetic structure. Using simulated larval dispersal estimates based on ocean current observations, we demonstrate how explicit consideration of frequency of exchange of larvae among sites via ocean advection can fundamentally change the interpretation of empirical population genetic structuring as compared with conventional spatial genetic analyses. Both frequency of larval exchange and empirical genetic difference were uncorrelated with Euclidean distance between sites. When transformed into relative oceanographic distances and integrated into a genetic isolation-by-distance framework, however, the frequency of larval exchange explained nearly 50 per cent of the variance in empirical genetic differences among sites over scales of tens of kilometres. Explanatory power was strongest when we considered effects of multiple generations of larval dispersal via intermediary locations on the long-term probability of exchange between sites. Our results uncover meaningful spatial patterning to population genetic structuring that corresponds with ocean circulation. This study advances our ability to interpret population structure from complex genetic data characteristic of high gene flow species, validates recent advances in oceanographic approaches for assessing larval dispersal and represents a novel approach to characterize population connectivity at small spatial scales germane to conservation and fisheries management. PMID:20133354

  6. Transcranial Alternating Current Stimulation: A Potential Risk for Genetic Generalized Epilepsy Patients (Study Case)

    Science.gov (United States)

    San-Juan, Daniel; Sarmiento, Carlos Ignacio; Hernandez-Ruiz, Axel; Elizondo-Zepeda, Ernesto; Santos-Vázquez, Gabriel; Reyes-Acevedo, Gerardo; Zúñiga-Gazcón, Héctor; Zamora-Jarquín, Carol Marina

    2016-01-01

    Transcranial alternating current stimulation (tACS) is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to 3 antiepileptic’s drugs characterized by 4 myoclonic and 20 absence seizures monthly. She received tACS at 1 mA at 3 Hz pulse train during 60 min over Fp1–Fp2 (10–20 EEG international system position) during 4 consecutive days using an Endeavor™ IOM Systems device® (Natus Medical Incorporated, Middleton, WI, USA). At the 1-month follow-up, she reported a 75% increase in seizures frequency (only myoclonic and tonic–clonic events) and developed a 24-h myoclonic status epilepticus that resolved with oral clonazepam and intravenous valproate. At the 2-month follow-up, the patient reported a 15-day seizure-free period. PMID:27965623

  7. Transcranial Alternating Current Stimulation: A potential risk for genetic generalized epilepsy patients (Study Case

    Directory of Open Access Journals (Sweden)

    Daniel San Juan Orta

    2016-11-01

    Full Text Available Transcranial alternating current stimulation (tACS is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to three antiepileptic’s drugs characterized by four myoclonic and 20 absence seizures monthly. She received tACS at 1mA@3Hz pulse train during 60 minutes over Fp1-Fp2 (10-20 EEG international system position during 4 consecutive days using an Endeavor™ IOM Systems device® (Natus Medical Incorporated, Middleton, WI, USA. At the one-month follow-up, she reported a 75% increase in seizures frequency (only myoclonic and tonic-clonic events and developed a 24h myoclonic status epilepticus that resolved with oral clonazepam and intravenous valproate. At the two-month follow-up, the patient reported a 15-day seizure-free period.

  8. Quantitative EEG and Current Source Density Analysis of Combined Antiepileptic Drugs and Dopaminergic Agents in Genetic Epilepsy: Two Case Studies.

    Science.gov (United States)

    Emory, Hamlin; Wells, Christopher; Mizrahi, Neptune

    2015-07-01

    Two adolescent females with absence epilepsy were classified, one as attention deficit and the other as bipolar disorder. Physical and cognitive exams identified hypotension, bradycardia, and cognitive dysfunction. Their initial electroencephalograms (EEGs) were considered slightly slow, but within normal limits. Quantitative EEG (QEEG) data included relative theta excess and low alpha mean frequencies. A combined treatment of antiepileptic drugs with a catecholamine agonist/reuptake inhibitor was sequentially used. Both patients' physical and cognitive functions improved and they have remained seizure free. The clinical outcomes were correlated with statistically significant changes in QEEG measures toward normal Z-scores in both anterior and posterior regions. In addition, low resolution electromagnetic tomography (LORETA) Z-scored source correlation analyses of the initial and treated QEEG data showed normalized patterns, supporting a neuroanatomic resolution. This study presents preliminary evidence for a neurophysiologic approach to patients with absence epilepsy and comorbid disorders and may provide a method for further research.

  9. Human Genetics of Diabetic Retinopathy: Current Perspectives

    Directory of Open Access Journals (Sweden)

    Daniel P. K. Ng

    2010-01-01

    Full Text Available Diabetic retinopathy (DR is a most severe microvascular complication which, if left unchecked, can be sight-threatening. With the global prevalence of diabetes being relentlessly projected to rise to 438 million subjects by 2030, DR will undoubtedly pose a major public health concern. Efforts to unravel the human genetics of DR have been undertaken using the candidate gene and linkage approaches, while GWAS efforts are still lacking. Aside from evidence for a few genes including aldose reductase and vascular endothelial growth factor, the genetics of DR remain poorly elucidated. Nevertheless, the promise of impactful scientific discoveries may be realized if concerted and collaborative efforts are mounted to identify the genes for DR. Harnessing new genetic technologies and resources such as the upcoming 1000 Genomes Project will help advance this field of research, and potentially lead to a rich harvest of insights into the biological mechanisms underlying this debilitating complication.

  10. Ocean currents help explain population genetic structure

    National Research Council Canada - National Science Library

    Crow White; Kimberly A. Selkoe; James Watson; David A. Siegel; Danielle C. Zacherl; Robert J. Toonen

    2010-01-01

    .... Using simulated larval dispersal estimates based on ocean current observations, we demonstrate how explicit consideration of frequency of exchange of larvae among sites via ocean advection can...

  11. [Current studies in myotonic dystrophy].

    Science.gov (United States)

    Zhao, Yimeng; Ishiura, Shoichi

    2014-03-01

    Myotonic dystrophy (DM) is a genetic, progressive, multisystemic disease with muscular disorder as its primary symptom. There are two types of DM (DM1 and DM2) caused by mutations in different genes, and in Japan, DM occurs with an incidence of approximately 1 in 20,000. The pathogenic mechanism underlying the disease is RNA toxicity caused by transcripts of aberrantly elongated CTG or CCTG repeats located in the 3' untranslated region or in the intron. The current treatments for DM is limited to symptomatic care. In this review, we will discuss several new therapeutic strategies based on recent studies of RNA toxicity.

  12. Currently Clinical Views on Genetics of Wilson′s Disease

    Directory of Open Access Journals (Sweden)

    Chen Chen

    2015-01-01

    Conclusions: Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

  13. Current challenges in handling genetic data.

    Science.gov (United States)

    Blank, Patricia R; Gutzwiller, Felix

    2014-01-01

    In no other field of biomedicine has such revolutionary change taken place in recent decades as it has in molecular genetics. The accumulated knowledge in this field will not only enable clinicians to make new treatment decisions in future, but will also help to save on healthcare costs. A positive test result will be the prerequisite for carrying out targeted drug treatment (companion diagnostics). Specific molecular diagnostics provide doctors with additional information that was not previously available, enabling them to optimise treatment accordingly. At the same time, prognostic tests mean that targeted preventive measures can be taken. Highly informative non-invasive tests will enable early detection and prevention to play a greater role. Technological breakthroughs, such as high-throughput sequencing, will lead to a flood of data in the future. The challenge lies in the quality of interpretation, which means extracting useful information for doctor and patient. Unlike data collection, interpretation is complex and expensive: it requires a high degree of expertise and a lot of resources. At the same time, experts stress that - as well as improvements in the accuracy and speed of data analysis - defined quality criteria must be generated for reliable interpretation of results. These challenges need to be tackled so that the population can benefit to the utmost from the opportunities offered by these developments: rapidly available and informative tests for targeted therapies based on high-quality data.

  14. Quantitative genetic studies of antisocial behaviour.

    Science.gov (United States)

    Viding, Essi; Larsson, Henrik; Jones, Alice P

    2008-08-12

    This paper will broadly review the currently available twin and adoption data on antisocial behaviour (AB). It is argued that quantitative genetic research can make a significant contribution to further the understanding of how AB develops. Genetically informative study designs are particularly useful for investigating several important questions such as whether: the heritability estimates vary as a function of assessment method or gender; the relative importance of genetic and environmental influences varies for different types of AB; the environmental risk factors are truly environmental; and genetic vulnerability influences susceptibility to environmental risk. While the current data are not yet directly translatable for prevention and treatment programmes, quantitative genetic research has concrete translational potential. Quantitative genetic research can supplement neuroscience research in informing about different subtypes of AB, such as AB coupled with callous-unemotional traits. Quantitative genetic research is also important in advancing the understanding of the mechanisms by which environmental risk operates.

  15. Current Automotive Holometry Studies

    Science.gov (United States)

    Marchi, Mitchell M.; Snyder, D. S.

    1990-04-01

    Holometry studies of automotive body and powertrain components have become a very useful high resolution test methodology to knowledgeable Ford engineering personnel. Current examples of studies that represent the static or dynamic operational conditions of the automotive test component are presented. Continuous wave laser holometry, computer aided holometry (CAH) and pulsed laser holometry were the holometric techniques used to study the following subjects: (1) body in prime (BIP) vibration modes, (2) transmission flexplate stud-torque converter deformation due to engine torque pulses, (3) engine cylinder head and camshaft support structure deformation due to cylinder pressure and (4) engine connecting rod/cap lift-off. Static and dynamic component loading and laboratory techniques required to produce usable and valid test results are discussed along with possible conclusions for the engineering concerns.

  16. Quantitative genetic studies of antisocial behaviour

    OpenAIRE

    Viding, Essi; Larsson, Henrik; Jones, Alice P.

    2008-01-01

    This paper will broadly review the currently available twin and adoption data on antisocial behaviour (AB). It is argued that quantitative genetic research can make a significant contribution to further the understanding of how AB develops. Genetically informative study designs are particularly useful for investigating several important questions such as whether: the heritability estimates vary as a function of assessment method or gender; the relative importance of genetic and environmental ...

  17. Numeral eddy current sensor modelling based on genetic neural network

    Institute of Scientific and Technical Information of China (English)

    Yu A-Long

    2008-01-01

    This paper presents a method used to the numeral eddy current sensor modelling based on the genetic neural network to settle its nonlinear problem. The principle and algorithms of genetic neural network are introduced. In this method, the nonlinear model parameters of the numeral eddy current sensor are optimized by genetic neural network (GNN) according to measurement data. So the method remains both the global searching ability of genetic algorithm and the good local searching ability of neural network. The nonlinear model has the advantages of strong robustness,on-line modelling and high precision.The maximum nonlinearity error can be reduced to 0.037% by using GNN.However, the maximum nonlinearity error is 0.075% using the least square method.

  18. Current evidence and insights about genetics in thoracic aorta disease.

    Science.gov (United States)

    Bisleri, Gianluigi; Bagozzi, Lorenzo; Muneretto, Claudio

    2013-01-01

    Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.

  19. Current Evidence and Insights about Genetics in Thoracic Aorta Disease

    Directory of Open Access Journals (Sweden)

    Gianluigi Bisleri

    2013-01-01

    Full Text Available Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.

  20. Currently Clinical Views on Genetics of Wilson′s Disease

    OpenAIRE

    Chen Chen; Bo Shen; Jia-Jia Xiao; Rong Wu; Sarah Jane Duff Canning; Xiao-Ping Wang

    2015-01-01

    Objective: The objective of this study was to review the research on clinical genetics of Wilson′s disease (WD). Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype. Study Selection: Publications about the ATP7B gene and protein function associated with clinical features were selected. Results: Wilson′s disease, also named hepat...

  1. Eradication of malaria through genetic engineering:the current situation

    Institute of Scientific and Technical Information of China (English)

    Wing-Chui Chong; Rusliza Basir; Yam Mun Fei

    2013-01-01

    Malaria is an intra-cellular parasitic protozoon responsible for millions of deaths annually.Host and parasite genetic factors are crucial in affecting susceptibility to malaria and progression of the disease.Recent increased deployment of vector controls and new artemisinin combination therapies have dramatically reduced the mortality and morbidity of malaria worldwide.However, the gradual emergence of parasite and mosquito resistance has raised alarm regarding the effectiveness of current artemisinin-based therapies.In this review, mechanisms of anti-malarial drug resistance in thePlasmodium parasite and new genetically engineered tools of research priorities are discussed.The complexity of the parasite lifecycle demands novel interventions to achieve global eradication.However, turning laboratory discovered transgenic interventions into functional products entails multiple experimental phases in addition to ethical and safety hurdles.Uncertainty over the regulatory status and public acceptance further discourage the implementation of genetically modified organisms.

  2. Currently Clinical Views on Genetics of Wilson's Disease

    Institute of Scientific and Technical Information of China (English)

    Chen Chen; Bo Shen; Jia-Jia Xiao; Rong Wu; Sarah Jane Duff Canning; Xiao-Ping Wang

    2015-01-01

    Objective:The objective of this study was to review the research on clinical genetics of Wilson's disease (WD).Data Sources:We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic,ATP7B gene,gene mutation,genotype,phenotype.Study Selection:Publications about the ATP7B gene and protein function associated with clinical features were selected.Results:Wilson's disease,also named hepatolenticular degeneration,is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene A TP7B.Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs,including liver,brain,and cornea,finally resulting in liver disease and extrapyramidal symptoms.It is the most common genetic neurological disorder in the onset of adolescents,second to muscular dystrophy in China.Early diagnosis and medical therapy are of great significance for improving the prognosis of WD patients.However,diagnosis of this disease is usually difficult because of its complicated phenotypes.In the last 10 years,an increasing number of clinical studies have used molecular genetics techniques.Improved diagnosis and prediction of the progression of this disease at the molecular level will aid in the development of more individualized and effective interventions,which is a key to transition from molecular genetic research to the clinical study.Conclusions:Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype.Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

  3. A current genetic and epigenetic view on human aging mechanisms.

    Science.gov (United States)

    Ostojić, Sala; Pereza, Nina; Kapović, Miljenko

    2009-06-01

    The process of aging is one of the most complex and intriguing biological phenomenons. Aging is a genetically regulated process in which the organism's maximum lifespan potential is pre-determined, while the rate of aging is influenced by environmental factors and lifestyle. Considering the complexity of mechanisms involved in the regulation of aging process, up to this date there isn't a major, unifying theory which could explain them. As genetic/epigenetic and environmental factors both inevitably influence the aging process, here we present a review on the genetic and epigenetic regulation of the most important molecular and cellular mechanisms involved in the process of aging. Based on the studies on oxidative stress, metabolism, genome stability, epigenetic modifications and cellular senescence in animal models and humans, we give an overview of key genetic and molecular pathways related to aging. As most of genetic manipulations which influence the aging process also affect reproduction, we discuss aging in humans as a post-reproductive genetically determined process. After the age of reproductive success, aging continously progresses which clinically coincides with the onset of most chronic diseases, cancers and dementions. As evolution shapes the genomes for reproductive success and not for post-reproductive survival, aging could be defined as a protective mechanism which ensures the preservation and progress of species through the modification, trasmission and improvement of genetic material.

  4. Eddy current testing probe optimization using a parallel genetic algorithm

    Directory of Open Access Journals (Sweden)

    Dolapchiev Ivaylo

    2008-01-01

    Full Text Available This paper uses the developed parallel version of Michalewicz's Genocop III Genetic Algorithm (GA searching technique to optimize the coil geometry of an eddy current non-destructive testing probe (ECTP. The electromagnetic field is computed using FEMM 2D finite element code. The aim of this optimization was to determine coil dimensions and positions that improve ECTP sensitivity to physical properties of the tested devices.

  5. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

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

    2012-01-01

    enetical 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

  6. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  7. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  8. Genetic improvement of brewer's yeast: current state, perspectives and limits.

    Science.gov (United States)

    Saerens, Sofie M G; Duong, C Thuy; Nevoigt, Elke

    2010-05-01

    Brewer's yeast strain optimisation may lead to a more efficient beer production process, better final quality or healthier beer. However, brewer's yeast genetic improvement is very challenging, especially true when it comes to lager brewer's yeast (Saccharomyces pastorianus) which contributes to 90% of the total beer market. This yeast is a genetic hybrid and allopolyploid. While early studies applying traditional genetic approaches encountered many problems, the development of rational metabolic engineering strategies successfully introduced many desired properties into brewer's yeast. Recently, the first genome sequence of a lager brewer's strain became available. This has opened the door for applying advanced omics technologies and facilitating inverse metabolic engineering strategies. The latter approach takes advantage of natural diversity and aims at identifying and transferring the crucial genetic information for an interesting phenotype. In this way, strains can be optimised by introducing "natural" mutations. However, even when it comes to self-cloned strains, severe concerns about genetically modified organisms used in the food and beverage industry are still a major hurdle for any commercialisation. Therefore, research efforts will aim at developing new sophisticated screening methods for the isolation of natural mutants with the desired properties which are based on the knowledge of genotype-phenotype linkage.

  9. Genetic transformation of fruit trees: current status and remaining challenges.

    Science.gov (United States)

    Gambino, Giorgio; Gribaudo, Ivana

    2012-12-01

    Genetic transformation has emerged as a powerful tool for genetic improvement of fruit trees hindered by their reproductive biology and their high levels of heterozygosity. For years, genetic engineering of fruit trees has focussed principally on enhancing disease resistance (against viruses, fungi, and bacteria), although there are few examples of field cultivation and commercial application of these transgenic plants. In addition, over the years much work has been performed to enhance abiotic stress tolerance, to induce modifications of plant growth and habit, to produce marker-free transgenic plants and to improve fruit quality by modification of genes that are crucially important in the production of specific plant components. Recently, with the release of several genome sequences, studies of functional genomics are becoming increasingly important: by modification (overexpression or silencing) of genes involved in the production of specific plant components is possible to uncover regulatory mechanisms associated with the biosynthesis and catabolism of metabolites in plants. This review focuses on the main advances, in recent years, in genetic transformation of the most important species of fruit trees, devoting particular attention to functional genomics approaches and possible future challenges of genetic engineering for these species in the post-genomic era.

  10. Invited review: Current state of genetic improvement in dairy sheep.

    Science.gov (United States)

    Carta, A; Casu, Sara; Salaris, S

    2009-12-01

    Dairy sheep have been farmed traditionally in the Mediterranean basin in southern Europe, central Europe, eastern Europe, and in Near East countries. Currently, dairy sheep farming systems vary from extensive to intensive according to the economic relevance of the production chain and the specific environment and breed. Modern breeding programs were conceived in the 1960s. The most efficient selection scheme for local dairy sheep breeds is based on pyramidal management of the population with the breeders of nucleus flocks at the top, where pedigree and official milk recording, artificial insemination, controlled natural mating, and breeding value estimation are carried out to generate genetic progress. The genetic progress is then transferred to the commercial flocks through artificial insemination or natural-mating rams. Increasing milk yield is still the most profitable breeding objective for several breeds. Almost all milk is used for cheese production and, consequently, milk content traits are very important. Moreover, other traits are gaining interest for selection: machine milking ability and udder morphology, resistance to diseases (mastitis, internal parasites, scrapie), and traits related to the nutritional value of milk (fatty acid composition). Current breeding programs based on the traditional quantitative approach have achieved appreciable genetic gains for milk yield. In many cases, further selection goals such as milk composition, udder morphology, somatic cell count, and scrapie resistance have been implemented. However, the possibility of including other traits of selective interest is limited by high recording costs. Also, the organizational effort needed to apply the traditional quantitative approach limits the diffusion of current selection programs outside the European Mediterranean area. In this context, the application of selection schemes assisted by molecular information, to improve either traditional dairy traits or traits costly to record

  11. Current perspectives on genetically modified crops and detection methods.

    Science.gov (United States)

    Kamle, Madhu; Kumar, Pradeep; Patra, Jayanta Kumar; Bajpai, Vivek K

    2017-07-01

    Genetically modified (GM) crops are the fastest adopted commodities in the agribiotech industry. This market penetration should provide a sustainable basis for ensuring food supply for growing global populations. The successful completion of two decades of commercial GM crop production (1996-2015) is underscored by the increasing rate of adoption of genetic engineering technology by farmers worldwide. With the advent of introduction of multiple traits stacked together in GM crops for combined herbicide tolerance, insect resistance, drought tolerance or disease resistance, the requirement of reliable and sensitive detection methods for tracing and labeling genetically modified organisms in the food/feed chain has become increasingly important. In addition, several countries have established threshold levels for GM content which trigger legally binding labeling schemes. The labeling of GM crops is mandatory in many countries (such as China, EU, Russia, Australia, New Zealand, Brazil, Israel, Saudi Arabia, Korea, Chile, Philippines, Indonesia, Thailand), whereas in Canada, Hong Kong, USA, South Africa, and Argentina voluntary labeling schemes operate. The rapid adoption of GM crops has increased controversies, and mitigating these issues pertaining to the implementation of effective regulatory measures for the detection of GM crops is essential. DNA-based detection methods have been successfully employed, while the whole genome sequencing using next-generation sequencing (NGS) technologies provides an advanced means for detecting genetically modified organisms and foods/feeds in GM crops. This review article describes the current status of GM crop commercialization and discusses the benefits and shortcomings of common and advanced detection systems for GMs in foods and animal feeds.

  12. [Current status of autism studies].

    Science.gov (United States)

    Kurita, H

    2001-01-01

    The current status of autism studies was reviewed based on English articles published during the 1990s. Although the concepts of autism and pervasive developmental disorders (PDD) are established, diagnostic criteria of PDDNOS or atypical autism, which is frequently difficult to differentiate from autism, need to be established. The prevalence of autism has been estimated as about 0.05% in the U.S and many European countries, while it was reported to be 0.1% or higher in Japan and some European countries, though the reasons for this difference are unclear. High-functioning (IQ > or = 70) autism may not be as rare a condition as previously thought and both its difference from and similarity to Asperger's syndrome, the highest functioning PDD subtype, need clarification. About 20 to 40% of children with autism lose meaningful words by the age of 2 years and display autistic symptoms thereafter. Such autism, called the setback type in Japan, has been demonstrated to have a poorer adolescent/adult outcome compared to autism without setback and its relationship with childhood disintegrative disorder, which displays a clearer regression after normal development for at least the first 2 years of life, needs to be addressed. The etiology of autism is now considered mostly genetic for reasons, such as the significantly higher concordance rate of autism in identical twin pairs (60-80%) than in fraternal twin pairs (0-10%) and an 3-5% incidence of autism among sibs of an autism proband, 30 to 100 times higher than that in the general population. The involvement of several genes is implicated to create susceptibility for autism, yet the responsible genes have not been identified. Although there is no medication to cure autism, some psychotropic drugs, such as antipsychotics and SSRIs, seem effective for behavior problems in autism patients. Psychosocial treatments are the main therapeutic approach to autism, though they are yet to be well systematized. It is important to

  13. [Current methods in genetic analysis : an approach for genetics-based preventive medicine].

    Science.gov (United States)

    Klein, Hans-Georg; Rost, Imma

    2015-02-01

    Modern genetic analysis methods such as DNA arrays (gene chips) or high-throughput DNA sequencing of the next generation (Next Generation Sequencing, NGS) have once again accelerated the pace of innovation that has been powered by genome research over the past 10 years of the "post-genomic era". The present paper introduces array and NGS methods as two important innovation driving methods and provides examples for their application in large-scale scientific projects. However, a broad application of these very powerful technologies for genetic screening for the purpose of disease prevention is currently not yet in sight. The complexity of the interaction of genes, gene products and the environment has so far exceeded all expectations, suggesting that reliable statements about the medical relevance of common genetic variants can presently only be made in a few areas such as pharmacogenetics and oncology. We also discuss ethical issues raised by genetic population screening. The aim of this paper is to provide a brief outline of the development of methods in molecular genetics to the now dominant modern technologies and present their applications in research, in the diagnosis of rare diseases, and in terms of screening approaches.

  14. Current problems regarding abortion, prenatal genetic testing and managing pregnancy

    Directory of Open Access Journals (Sweden)

    Klajn-Tatić Vesna

    2011-01-01

    Full Text Available Current ethical and legal issues with regard to abortion, prenatal genetic testing and managing pregnancy are discussed in this paper. These problems are considered from the legal theory point of view as well as from the standpoint of the Serbian Law, the European Convention for the Protection of Human Rights and Fundamental Freedoms, European Court of Human Rights, legal regulations of several EU countries, the USA, Japan, and their judicial practice. First, the pregnancy termination standards that exist in Serbia are introduced. Then the following issues are explained separately: the pro life and pro choice approaches to abortion; abortion according to the legal approach as a way of survival; the moral and legal status of the fetus; prenatal genetic testing, and finally matters regarding managing pregnancy today. Moral and legal principals of autonomy, namely freedom of choice of the individual, privacy and self-determination give women the right to terminate unwanted pregnancies. In addition, the basic question is whether the right of the woman to abortion clashes with the rights of others. Firstly, with the right of the "fetus to life". Secondly, with the right of the state to intervene in the interest of protecting "the life of the fetus". Third, with the rights of the woman’s partner. The fetus has the moral right to life, but less in relation to the same right of the woman as well as in relation to her right to control her life and her physical and moral integrity. On the other hand, the value of the life of the fetus increases morally and legally with the maturity of gestation; from the third trimester, the interest of the state prevails in the protection of the "life of the fetus" except when the life or health of the pregnant woman are at risk. As regards the rights of the woman’s partner, namely the husband’s opinion, there is no legal significance. The law does not request his participation in the decision on abortion because

  15. Genetic studies in alcohol research

    Energy Technology Data Exchange (ETDEWEB)

    Karp, R.W. [National Institute on Alcohol Abuse and Alcoholism, Rockville, MD (United States)

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  16. Cyanobactins from Cyanobacteria: Current Genetic and Chemical State of Knowledge

    Directory of Open Access Journals (Sweden)

    Joana Martins

    2015-11-01

    Full Text Available Cyanobacteria are considered to be one of the most promising sources of new, natural products. Apart from non-ribosomal peptides and polyketides, ribosomally synthesized and post-translationally modified peptides (RiPPs are one of the leading groups of bioactive compounds produced by cyanobacteria. Among these, cyanobactins have sparked attention due to their interesting bioactivities and for their potential to be prospective candidates in the development of drugs. It is assumed that the primary source of cyanobactins is cyanobacteria, although these compounds have also been isolated from marine animals such as ascidians, sponges and mollusks. The aim of this review is to update the current knowledge of cyanobactins, recognized as being produced by cyanobacteria, and to emphasize their genetic clusters and chemical structures as well as their bioactivities, ecological roles and biotechnological potential.

  17. Cyanobactins from Cyanobacteria: Current Genetic and Chemical State of Knowledge.

    Science.gov (United States)

    Martins, Joana; Vasconcelos, Vitor

    2015-11-13

    Cyanobacteria are considered to be one of the most promising sources of new, natural products. Apart from non-ribosomal peptides and polyketides, ribosomally synthesized and post-translationally modified peptides (RiPPs) are one of the leading groups of bioactive compounds produced by cyanobacteria. Among these, cyanobactins have sparked attention due to their interesting bioactivities and for their potential to be prospective candidates in the development of drugs. It is assumed that the primary source of cyanobactins is cyanobacteria, although these compounds have also been isolated from marine animals such as ascidians, sponges and mollusks. The aim of this review is to update the current knowledge of cyanobactins, recognized as being produced by cyanobacteria, and to emphasize their genetic clusters and chemical structures as well as their bioactivities, ecological roles and biotechnological potential.

  18. Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

    Science.gov (United States)

    Chadda, Karan R; Jeevaratnam, Kamalan; Lei, Ming; Huang, Christopher L-H

    2017-03-06

    Arrhythmias arise from breakdown of orderly action potential (AP) activation, propagation and recovery driven by interactive opening and closing of successive voltage-gated ion channels, in which one or more Na(+) current components play critical parts. Early peak, Na(+) currents (I Na) reflecting channel activation drive the AP upstroke central to cellular activation and its propagation. Sustained late Na(+) currents (I Na-L) include contributions from a component with a delayed inactivation timecourse influencing AP duration (APD) and refractoriness, potentially causing pro-arrhythmic phenotypes. The magnitude of I Na-L can be analysed through overlaps or otherwise in the overall voltage dependences of the steady-state properties and kinetics of activation and inactivation of the Na(+) conductance. This was useful in analysing repetitive firing associated with paramyotonia congenita in skeletal muscle. Similarly, genetic cardiac Na(+) channel abnormalities increasing I Na-L are implicated in triggering phenomena of automaticity, early and delayed afterdepolarisations and arrhythmic substrate. This review illustrates a wide range of situations that may accentuate I Na-L. These include (1) overlaps between steady-state activation and inactivation increasing window current, (2) kinetic deficiencies in Na(+) channel inactivation leading to bursting phenomena associated with repetitive channel openings and (3) non-equilibrium gating processes causing channel re-opening due to more rapid recoveries from inactivation. All these biophysical possibilities were identified in a selection of abnormal human SCN5A genotypes. The latter presented as a broad range of clinical arrhythmic phenotypes, for which effective therapeutic intervention would require specific identification and targeting of the diverse electrophysiological abnormalities underlying their increased I Na-L.

  19. The genetics of premature ovarian failure: current perspectives

    Directory of Open Access Journals (Sweden)

    Chapman C

    2015-09-01

    Full Text Available Chevy Chapman, Lynsey Cree, Andrew N Shelling Department of Obstetrics and Gynecology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand Abstract: Premature ovarian failure (POF is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Many genes have been identified over the past few years that contribute to the development of POF. However, few genes have been identified that can explain a substantial proportion of cases of POF. The unbiased approaches of genome-wide association studies and next-generation sequencing technologies have identified several novel genes implicated in POF. As only a small proportion of genes influencing idiopathic POF have been identified thus far, it remains to be determined how many genes and molecular pathways may influence idiopathic POF development. However, owing to POF’s diverse etiology and genetic heterogeneity, we expect to see the contribution of several new and novel molecular pathways that will greatly enhance our understanding of the regulation of ovarian function. Future genetic studies in large cohorts of well-defined, unrelated, idiopathic POF patients will provide a great opportunity to identify the missing heritability of idiopathic POF. The identification of several causative genes may allow for early detection and would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help direct potential targets for future treatment. Keywords: premature ovarian failure, POF, next-generation sequencing, genome-wide association studies, genetics, ovarian aging

  20. Current studies on megapode phylogeny

    NARCIS (Netherlands)

    Brom, T.G.; Dekker, R.W.R.J.

    1992-01-01

    Hypotheses regarding the phylogenetic relationships between megapodes and other birds are reviewed, and it is concluded that the available evidence supports a sistergroup relationship between megapodes and all other galliforms. Current studies in this direction are discussed. The resolvement of intr

  1. The genetics of premature ovarian failure: current perspectives.

    Science.gov (United States)

    Chapman, Chevy; Cree, Lynsey; Shelling, Andrew N

    2015-01-01

    Premature ovarian failure (POF) is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Many genes have been identified over the past few years that contribute to the development of POF. However, few genes have been identified that can explain a substantial proportion of cases of POF. The unbiased approaches of genome-wide association studies and next-generation sequencing technologies have identified several novel genes implicated in POF. As only a small proportion of genes influencing idiopathic POF have been identified thus far, it remains to be determined how many genes and molecular pathways may influence idiopathic POF development. However, owing to POF's diverse etiology and genetic heterogeneity, we expect to see the contribution of several new and novel molecular pathways that will greatly enhance our understanding of the regulation of ovarian function. Future genetic studies in large cohorts of well-defined, unrelated, idiopathic POF patients will provide a great opportunity to identify the missing heritability of idiopathic POF. The identification of several causative genes may allow for early detection and would provide better opportunity for early intervention, and furthermore, the identification of specific gene defects will help direct potential targets for future treatment.

  2. The molecular genetics of the corneal dystrophies--current status.

    Science.gov (United States)

    Klintworth, Gordon K

    2003-05-01

    The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy). Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities. Genetic studies on inherited diseases affecting the cornea have provided insight into some of these disorders at a basic molecular level and it has become recognized that distinct clinicopathologic phenotypes can result from specific mutations in a particular gene, as well as some different mutations in the same gene. A molecular genetic understanding of inherited corneal diseases is leading to a better appreciation of the

  3. [Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].

    Science.gov (United States)

    Tanaka, Keiko; Sekijima, Yoshiki; Yoshida, Kunihiro; Mizuuchi, Asako; Yamashita, Hiromi; Tamai, Mariko; Ikeda, Shu-ichi; Fukushima, Yoshimitsu

    2013-01-01

    The current status of predictive genetic testing for late-onset hereditary neurological diseases in Japan is largely unknown. In this study, we analyzed data from 73 clients who visited the Division of Clinical and Molecular Genetics, Shinshu University Hospital, for the purpose of predictive genetic testing. The clients consisted of individuals with family histories of familial amyloid polyneuropathy (FAP; n=30), Huntington's disease (HD; n=16), spinocerebellar degeneration (SCD; n=14), myotonic dystrophy type 1 (DM1; n=9), familial amyotrophic lateral sclerosis type 1 (ALS1; n=3), and Alzheimer's disease (AD; n=1). Forty-nine of the 73 (67.1%) clients were in their twenties or thirties. Twenty-seven of the 73 (37.0%) clients visited a medical institution within 3 months after becoming aware of predictive genetic testing. The most common reason for requesting predictive genetic testing was a need for certainty or to reduce uncertainty and anxiety. The decision-making about marriage and having a child was also a main reason in clients in the twenties and thirties. The numbers of clients who actually underwent predictive genetic testing was 22 of 30 (73.3%) in FAP, 3 of 16 (18.8%) in HD, 6 of 10 (60.0%) in SCD, 7 of 9 (77.8%) in DM1, and 0 of 3 (0%) in ALS1 (responsible gene of the disease was unknown in 4 SCD patients and an AD patient). The percentage of test usage was lower in untreatable diseases such as HD and SCD than that in FAP, suggesting that many clients changed their way of thinking on the significance of testing through multiple genetic counseling sessions. In addition, it was obvious that existence of disease-modifying therapy promoted usage of predictive genetic testing in FAP. Improvement of genetic counseling system to manage predictive genetic testing is necessary, as consultation concerning predictive genetic testing is the main motivation to visit genetic counseling clinic in many at-risk clients.

  4. Study Points to Genetic Subtypes of Esophageal Cancer

    Science.gov (United States)

    A Cancer Currents blog post about a study by The Cancer Genome Atlas Research Network that identified distinct genetic and molecular changes in esophageal cancers that could improve their classification and identify potential new treatments.

  5. Provision of genetic services in Europe: current practices and issues.

    Science.gov (United States)

    Godard, Béatrice; Kääriäinen, Helena; Kristoffersson, Ulf; Tranebjaerg, Lisbeth; Coviello, Domenico; Aymé, Ségolène

    2003-12-01

    This paper examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe. Many aspects have been considered, such as the definition and the aims of genetic services, their organization, the quality assessment, public education, as well as the partnership with patients support groups and the multicultural aspects. The methods was primarily the analysis of professional guidelines, legal frameworks and other documents related to the organization of genetic services, mainly from Europe, but also from USA and international organizations. Then, the method was to examine the background data emerging from an updated report produced by the Concerted Action on Genetic Services in Europe, as well as the issues debated by 43 experts from 17 European countries invited to an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Helsinki, Finland, 8 and 9 September 2000. Some conclusions were identified from the ESHG workshop to arrive at outlines for optimal genetic services. Participants were concerned about equal accessibility and effectiveness of clinical genetic services, quality assessment of services, professional education, multidisciplinarity and division of tasks as well as networking. Within European countries, adherence to the organizational principles of prioritization, regionalization and integration into related health services would maximize equal accessibility and effectiveness of genetic actions. There is a need for harmonization of the rules involved in financial coverage of DNA tests in order to make these available to all Europeans. Clear guidelines for the best practice will ensure that the provision of genetic services develops in a way that is beneficial to its customers, be they health professionals or the public, especially since the coordination of clinical, laboratory and research perspectives within a

  6. Current Evidence and Insights about Genetics in Thoracic Aorta Disease

    OpenAIRE

    2013-01-01

    Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also s...

  7. Genetic Analyses in Health Laboratories: Current Status and Expectations

    Science.gov (United States)

    Finotti, Alessia; Breveglieri, Giulia; Borgatti, Monica; Gambari, Roberto

    Genetic analyses performed in health laboratories involve adult patients, newborns, embryos/fetuses, pre-implanted pre-embryos, pre-fertilized oocytes and should meet the major medical needs of hospitals and pharmaceutical companies. Recent data support the concept that, in addition to diagnosis and prognosis, genetic analyses might lead to development of personalized therapy. Novel frontiers in genetic testing involve the development of single cell analyses and non-invasive assays, including those able to predict outcome of cancer pathologies by looking at circulating tumor cells, DNA, mRNA and microRNAs. In this respect, PCR-free diagnostics appears to be one of the most interesting and appealing approaches.

  8. Genetic linkage mapping in fungi: current state, applications, and future trends.

    Science.gov (United States)

    Foulongne-Oriol, Marie

    2012-08-01

    Genetic mapping is a basic tool for eukaryotic genomic research. Linkage maps provide insights into genome organization and can be used for genetic studies of traits of interest. A genetic linkage map is a suitable support for the anchoring of whole genome sequences. It allows the localization of genes of interest or quantitative trait loci (QTL) and map-based cloning. While genetic mapping has been extensively used in plant or animal models, this discipline is more recent in fungi. The present article reviews the current status of genetic linkage map research in fungal species. The process of linkage mapping is detailed, from the development of mapping populations to the construction of the final linkage map, and illustrated based on practical examples. The range of specific applications in fungi is browsed, such as the mapping of virulence genes in pathogenic species or the mapping of agronomically relevant QTL in cultivated edible mushrooms. Future prospects are finally discussed in the context of the most recent advances in molecular techniques and the release of numerous fungal genome sequences.

  9. Ancient Humans Influenced the Current Spatial Genetic Structure of Common Walnut Populations in Asia.

    Directory of Open Access Journals (Sweden)

    Paola Pollegioni

    Full Text Available Common walnut (Juglans regia L is an economically important species cultivated worldwide for its wood and nuts. It is generally accepted that J. regia survived and grew spontaneously in almost completely isolated stands in its Asian native range after the Last Glacial Maximum. Despite its natural geographic isolation, J. regia evolved over many centuries under the influence of human management and exploitation. We evaluated the hypothesis that the current distribution of natural genetic resources of common walnut in Asia is, at least in part, the product of ancient anthropogenic dispersal, human cultural interactions, and afforestation. Genetic analysis combined with ethno-linguistic and historical data indicated that ancient trade routes such as the Persian Royal Road and Silk Road enabled long-distance dispersal of J. regia from Iran and Trans-Caucasus to Central Asia, and from Western to Eastern China. Ancient commerce also disrupted the local spatial genetic structure of autochthonous walnut populations between Tashkent and Samarkand (Central-Eastern Uzbekistan, where the northern and central routes of the Northern Silk Road converged. A significant association between ancient language phyla and the genetic structure of walnut populations is reported even after adjustment for geographic distances that could have affected both walnut gene flow and human commerce over the centuries. Beyond the economic importance of common walnut, our study delineates an alternative approach for understanding how the genetic resources of long-lived perennial tree species may be affected by the interaction of geography and human history.

  10. Studies in genetic discrimination. Final progress report

    Energy Technology Data Exchange (ETDEWEB)

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  11. Noninvasive transcranial direct current stimulation in a genetic absence model

    NARCIS (Netherlands)

    Zobeiri, M.; Luijtelaar, E.L.J.M. van

    2013-01-01

    The proposed area of onset for absence epilepsy characteristic of spontaneously occurring spike and slow-wave discharges (SWDs) in the genetic absence rat model is the subgranular layer of the somatosensory cortex. Modulation of the hyperexcitable cortical foci by bilateral transcranial direct curre

  12. Genetic Breeding and Diversity of the Genus Passiflora: Progress and Perspectives in Molecular and Genetic Studies

    Directory of Open Access Journals (Sweden)

    Carlos Bernard M. Cerqueira-Silva

    2014-08-01

    Full Text Available Despite the ecological and economic importance of passion fruit (Passiflora spp., molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i to present the current condition of the passion fruit crop; (ii to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii to present the contributions of genetic engineering for passion fruit culture; and (iv to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit.

  13. Incorporating Genetics into Your Studies: A Guide for Social Scientists

    Directory of Open Access Journals (Sweden)

    Danielle eDick

    2011-05-01

    Full Text Available AbstractThere has been a surge of interest in recent years in incorporating genetic components into on-going longitudinal, developmental studies and related psychological studies. While this represents an exciting new direction in developmental science, much of the research on genetic topics in developmental science does not reflect the most current practice in genetics. This is likely due, in part, to the rapidly changing landscape of the field of genetics, and the difficulty this presents for developmental scientists who are trying to learn this new area. In this review, we present an overview of the paradigm shifts that have occurred in genetics and we introduce the reader to basic genetic methodologies. We present our view of the current stage of research ongoing at the intersection of genetics and social science, and we provide recommendations for how we could do better. We also address a number of issues that social scientists face as they integrate genetics into their projects, including choice of a study design (candidate gene versus genome-wide association versus sequencing, different methods of DNA collection, and special considerations involved in the analysis of genotypic data. Through this review, we hope to equip social scientists with a deeper understanding of the many considerations that go into genetics research, in an effort to foster more meaningful cross-disciplinary initiatives.

  14. Global Status of Genetically Modified Crops: Current Trends and Prospects

    OpenAIRE

    Hautea, Randy A.

    2002-01-01

    Modern biotechnology-facilitated crop improvement is undoubtedly one of the most significant technological developments in agriculture. The first wave of genetically-modified (GM) or transgenic crops include cultivars with important input traits such as herbicide tolerance and insect resistance. Future products are expected to provide benefits that could include tolerance to environmental stresses and enhanced nutritional content, which can be particularly valuable in crops that are important...

  15. Current and historical drivers of landscape genetic structure differ in core and peripheral salamander populations.

    Directory of Open Access Journals (Sweden)

    Rachael Y Dudaniec

    Full Text Available With predicted decreases in genetic diversity and greater genetic differentiation at range peripheries relative to their cores, it can be difficult to distinguish between the roles of current disturbance versus historic processes in shaping contemporary genetic patterns. To address this problem, we test for differences in historic demography and landscape genetic structure of coastal giant salamanders (Dicamptodon tenebrosus in two core regions (Washington State, United States versus the species' northern peripheral region (British Columbia, Canada where the species is listed as threatened. Coalescent-based demographic simulations were consistent with a pattern of post-glacial range expansion, with both ancestral and current estimates of effective population size being much larger within the core region relative to the periphery. However, contrary to predictions of recent human-induced population decline in the less genetically diverse peripheral region, there was no genetic signature of population size change. Effects of current demographic processes on genetic structure were evident using a resistance-based landscape genetics approach. Among core populations, genetic structure was best explained by length of the growing season and isolation by resistance (i.e. a 'flat' landscape, but at the periphery, topography (slope and elevation had the greatest influence on genetic structure. Although reduced genetic variation at the range periphery of D. tenebrosus appears to be largely the result of biogeographical history rather than recent impacts, our analyses suggest that inherent landscape features act to alter dispersal pathways uniquely in different parts of the species' geographic range, with implications for habitat management.

  16. The Current and Future Use of Ridge Regression for Prediction in Quantitative Genetics

    Directory of Open Access Journals (Sweden)

    Ronald de Vlaming

    2015-01-01

    Full Text Available In recent years, there has been a considerable amount of research on the use of regularization methods for inference and prediction in quantitative genetics. Such research mostly focuses on selection of markers and shrinkage of their effects. In this review paper, the use of ridge regression for prediction in quantitative genetics using single-nucleotide polymorphism data is discussed. In particular, we consider (i the theoretical foundations of ridge regression, (ii its link to commonly used methods in animal breeding, (iii the computational feasibility, and (iv the scope for constructing prediction models with nonlinear effects (e.g., dominance and epistasis. Based on a simulation study we gauge the current and future potential of ridge regression for prediction of human traits using genome-wide SNP data. We conclude that, for outcomes with a relatively simple genetic architecture, given current sample sizes in most cohorts (i.e., N<10,000 the predictive accuracy of ridge regression is slightly higher than the classical genome-wide association study approach of repeated simple regression (i.e., one regression per SNP. However, both capture only a small proportion of the heritability. Nevertheless, we find evidence that for large-scale initiatives, such as biobanks, sample sizes can be achieved where ridge regression compared to the classical approach improves predictive accuracy substantially.

  17. The Current and Future Use of Ridge Regression for Prediction in Quantitative Genetics.

    Science.gov (United States)

    de Vlaming, Ronald; Groenen, Patrick J F

    2015-01-01

    In recent years, there has been a considerable amount of research on the use of regularization methods for inference and prediction in quantitative genetics. Such research mostly focuses on selection of markers and shrinkage of their effects. In this review paper, the use of ridge regression for prediction in quantitative genetics using single-nucleotide polymorphism data is discussed. In particular, we consider (i) the theoretical foundations of ridge regression, (ii) its link to commonly used methods in animal breeding, (iii) the computational feasibility, and (iv) the scope for constructing prediction models with nonlinear effects (e.g., dominance and epistasis). Based on a simulation study we gauge the current and future potential of ridge regression for prediction of human traits using genome-wide SNP data. We conclude that, for outcomes with a relatively simple genetic architecture, given current sample sizes in most cohorts (i.e., N < 10,000) the predictive accuracy of ridge regression is slightly higher than the classical genome-wide association study approach of repeated simple regression (i.e., one regression per SNP). However, both capture only a small proportion of the heritability. Nevertheless, we find evidence that for large-scale initiatives, such as biobanks, sample sizes can be achieved where ridge regression compared to the classical approach improves predictive accuracy substantially.

  18. Current Views on Genetics and Epigenetics of Cholesterol Gallstone Disease

    Directory of Open Access Journals (Sweden)

    Agostino Di Ciaula

    2013-01-01

    Full Text Available Cholesterol gallstone disease, one of the commonest digestive diseases in western countries, is induced by an imbalance in cholesterol metabolism, which involves intestinal absorption, hepatic biosynthesis, and biliary output of cholesterol, and its conversion to bile acids. Several components of the metabolic syndrome (e.g., obesity, type 2 diabetes, dyslipidemia, and hyperinsulinemia are also well-known risk factors for gallstones, suggesting the existence of interplay between common pathophysiological pathways influenced by insulin resistance, genetic, epigenetic, and environmental factors. Cholesterol gallstones may be enhanced, at least in part, by the abnormal expression of a set of the genes that affect cholesterol homeostasis and lead to insulin resistance. Additionally, epigenetic mechanisms (mainly DNA methylation, histone acetylation/deacetylation, and noncoding microRNAs may modify gene expression in the absence of an altered DNA sequence, in response to different lithogenic environmental stimuli, such as diet, lifestyle, pollutants, also occurring in utero before birth. In this review, we will comment on various steps of the pathogenesis of cholesterol gallstones and interaction between environmental and genetic factors. The epigenomic approach may offer new options for therapy of gallstones and better possibilities for primary prevention in subjects at risk.

  19. Current knowledge on the genetics of autism and propositions for future research.

    Science.gov (United States)

    Bourgeron, Thomas

    2016-01-01

    Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders characterized by problems in social communication, as well as by the presence of restricted interests, stereotyped and repetitive behaviours. In the last 40years, genetic studies have provided crucial information on the causes of ASD and its diversity. In this article, I will first review the current knowledge on the genetics of ASD and then suggest three propositions to foster research in this field. Twin and familial studies estimated the heritability of ASD to be 50%. While most of the inherited part of ASD is captured by common variants, our current knowledge on the genetics of ASD comes almost exclusively from the identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy-number (CNV) or single nucleotide variants (SNV) affecting clinically relevant genes for ASD. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In addition to these discoveries, three propositions coming from institutions, researchers and/or communities of patients and families can be made to foster research on ASD: (i) to use more dimensional and quantitative data than diagnostic categories; (ii) to increase data sharing and research on genetic and brain diversity in human populations; (iii) to involve patients and relatives as participants for research. Hopefully, this knowledge will lead to a better diagnosis, care and integration of individuals with ASD.

  20. Proteomic evaluation of genetically modified crops: current status and challenges

    Directory of Open Access Journals (Sweden)

    Chun Yan Gong

    2013-03-01

    Full Text Available Hectares of genetically modified (GM crops have increased exponentially since 1996, when such crops began to be commercialized. GM biotechnology, together with conventional breeding, has become the main approach to improving agronomic traits of crops. However, people are concerned about the safety of GM crops, especially GM-derived food and feed. Many efforts have been made to evaluate the unintended effects caused by the introduction of exogenous genes. Omics techniques have advantages over targeted analysis in evaluating such crops because of their use of high-throughput screening. Proteins are key players in gene function and are directly involved in metabolism and cellular development or have roles as toxins, antinutrients or allergens, which are essential for human health. Thus, proteomics can be expected to become one of the most useful tools in safety assessment. This review assesses the potential of proteomics in evaluating various GM crops. We further describe the challenges in ensuring homogeneity and sensitivity in detection techniques.

  1. Gene set analysis for interpreting genetic studies

    DEFF Research Database (Denmark)

    Pers, Tune H

    2016-01-01

    Interpretation of genome-wide association study (GWAS) results is lacking behind the discovery of new genetic associations. Consequently, there is an urgent need for data-driven methods for interpreting genetic association studies. Gene set analysis (GSA) can identify aetiologic pathways and func......Interpretation of genome-wide association study (GWAS) results is lacking behind the discovery of new genetic associations. Consequently, there is an urgent need for data-driven methods for interpreting genetic association studies. Gene set analysis (GSA) can identify aetiologic pathways...

  2. Proteomic evaluation of genetically modified crops: current status and challenges

    Science.gov (United States)

    Gong, Chun Yan; Wang, Tai

    2013-01-01

    Hectares of genetically modified (GM) crops have increased exponentially since 1996, when such crops began to be commercialized. GM biotechnology, together with conventional breeding, has become the main approach to improving agronomic traits of crops. However, people are concerned about the safety of GM crops, especially GM-derived food and feed. Many efforts have been made to evaluate the unintended effects caused by the introduction of exogenous genes. “Omics” techniques have advantages over targeted analysis in evaluating such crops because of their use of high-throughput screening. Proteins are key players in gene function and are directly involved in metabolism and cellular development or have roles as toxins, antinutrients, or allergens, which are essential for human health. Thus, proteomics can be expected to become one of the most useful tools in safety assessment. This review assesses the potential of proteomics in evaluating various GM crops. We further describe the challenges in ensuring homogeneity and sensitivity in detection techniques. PMID:23471542

  3. Does advertisement call variation coincide with genetic variation in the genetically diverse frog taxon currently known as Leptodactylus fuscus (Amphibia: Leptodactylidae?

    Directory of Open Access Journals (Sweden)

    HEYER W. RONALD

    2003-01-01

    Full Text Available The frog Leptodactylus fuscus is found throughout much of South America in open and disturbed habitats. Previous study of genetic differentiation in L. fuscus demonstrated that there was lack of genetic exchange among population units consistent with multiple species, rather than a single species. We examine advertisement vocalizations of L. fuscus to determine whether call variation coincides with genetic differentiation. Calls were analyzed for 32 individual frogs from 25 localities throughout the distributional range of L. fuscus. Although there is variation in calls among geographic samples, call variation is not concordant with genetic variation or geographic distance and the call variation observed is less than that typically found among other closely related species of Leptodactylus. This study is an example of the rare pattern of strong genetic differentiation unaccompanied by salient differences in advertisement calls. The relative infrequency of this pattern as currently understood may only reflect the lack of detailed analyses of genetic and acoustic differentiation within population systems currently understood as single species with substantial geographic distributions.

  4. A genetic epidemiologic study of hemochromatosis

    NARCIS (Netherlands)

    O.T. Njajou (Omer)

    2002-01-01

    textabstractThe goal of genetic epidemiology is to study the genetic etiology of diseases. There were t\\vo main aims for the present thesis. The first aim was to study the effects of the hemochromatosis gene (HFE) mutations on serum iron levels and disease associated conditions. Secondly, we aimed a

  5. Genetic association studies in lumbar disc degeneration

    DEFF Research Database (Denmark)

    Eskola, Pasi J; Lemmelä, Susanna; Kjaer, Per

    2012-01-01

    Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans....

  6. Genetic epidemiology of tuberculosis susceptibility: impact of study design.

    Science.gov (United States)

    Stein, Catherine M

    2011-01-20

    Several candidate gene studies have provided evidence for a role of host genetics in susceptibility to tuberculosis (TB). However, the results of these studies have been very inconsistent, even within a study population. Here, we review the design of these studies from a genetic epidemiological perspective, illustrating important differences in phenotype definition in both cases and controls, consideration of latent M. tuberculosis infection versus active TB disease, population genetic factors such as population substructure and linkage disequilibrium, polymorphism selection, and potential global differences in M. tuberculosis strain. These considerable differences between studies should be accounted for when examining the current literature. Recommendations are made for future studies to further clarify the host genetics of TB.

  7. The genetics of Parkinson’s disease: review of current and emerging candidates

    Directory of Open Access Journals (Sweden)

    Ran C

    2014-06-01

    Full Text Available Caroline Ran, Andrea Carmine BelinDepartment of Neuroscience, Karolinska Institutet, Stockholm, SwedenAbstract: Parkinson’s disease (PD is the second most common neurodegenerative disorder, affecting more than 1% of the population over the age of 65 worldwide. Certain rare forms of the disease are monogenetic, and there is increasing evidence that multiple genetic risk factors are also important for common forms of PD. We have summarized the results from candidate gene and genome-wide association findings in sporadic PD as well as linkage and next-generation sequencing studies of familial PD. To date, 19 genetic loci, PARK1–19, have been reported for rare forms of PD, including autosomal-dominant and autosomal-recessive PD. At 14 of these loci, genes have been identified carrying mutations that are linked to affected family members. These genes have also been shown to constitute candidate genes for idiopathic forms of PD, since they may also carry other mutations that merely increase risk. Multiple genetic factors combine in different ways to increase or decrease risk, and several of these risk factors need to be identified in order to begin unraveling the causative pathways leading to the different forms of PD. In this review, we present current and emerging PD candidate genes to help explain the pathways leading to neurodegeneration.Keywords: polymorphism, linkage, synuclein, mitochondria, toxins, GWAS

  8. [Monogenic obesity - current status of molecular genetic research and clinical importance].

    Science.gov (United States)

    Aldhoon-Hainerová, Irena; Včelák, Josef; Zamrazilová, Hana

    2014-01-01

    Obesity and its comorbidities represent one of the major health problems worldwide. A positive energy balance due to inappropriate life-style changes plays a key role in the current obesity epidemic. The influence of genetic factors is also significant - several studies concluded that genes contribute to the development of obesity by 40-70%. Genetic variability predisposes an individual to tendency or resistance to increase body weight in obesogenic environment. Polygenic type of inheritance is responsible in most of obese individuals. However, an intensive research of the past 20 years has led to an identification of several genes causing monogenic forms of obesity. To date, several monogenic genes (leptin, leptin receptor, prohormon convertase 1, proopiomelanocortin, melanocortin 4 receptor, single-minded homolog 1, brain-derived neurotrophic factor, neurotrophic tyrosine kinase receptor type 2) that are either involved in the neuronal differentiation of the paraventricular nucleus or in the leptin-melanocortin pathway are known to cause obesity. Mutation carriers apart from severe early onset obesity manifest with additional phenotypic characteristics as adrenal insufficiency, impaired immunity and impaired fertility. This review provides an overview of molecular-genetic and clinical research in the field of monogenic obesities including therapeutical approaches.

  9. Hamartomatous polyps - a clinical and molecular genetic study

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie

    2016-01-01

    the knowledge on clinical course and molecular genetics in patients with HPs and HPS, and to investigate research participants' attitude towards the results of extensive genetic testing. Paper I: In the first paper we investigated the occurrence, anatomic distribution, and other demographics of juvenile polyps......-Jeghers syndrome, and the PTEN hamartoma tumour syndrome. Currently, the HPS diagnoses are based on clinical criteria and are often assisted with genetic testing as candidate genes have been described for each syndrome. This thesis is based on six scientific papers. The overall aim of the studies was to expand......% fulfilled to diagnostic criteria of JPS. The majority of patients had a single juvenile polyp. Paper II: In this paper we conducted a review of the HPS based on the current literature. Paper III: We investigated the hypothesis that patients with one or few HPs may have a HPS based on genetic screening. We...

  10. Genetic network models: a comparative study

    Science.gov (United States)

    van Someren, Eugene P.; Wessels, Lodewyk F. A.; Reinders, Marcel J. T.

    2001-06-01

    Currently, the need arises for tools capable of unraveling the functionality of genes based on the analysis of microarray measurements. Modeling genetic interactions by means of genetic network models provides a methodology to infer functional relationships between genes. Although a wide variety of different models have been introduced so far, it remains, in general, unclear what the strengths and weaknesses of each of these approaches are and where these models overlap and differ. This paper compares different genetic modeling approaches that attempt to extract the gene regulation matrix from expression data. A taxonomy of continuous genetic network models is proposed and the following important characteristics are suggested and employed to compare the models: inferential power; predictive power; robustness; consistency; stability and computational cost. Where possible, synthetic time series data are employed to investigate some of these properties. The comparison shows that although genetic network modeling might provide valuable information regarding genetic interactions, current models show disappointing results on simple artificial problems. For now, the simplest models are favored because they generalize better, but more complex models will probably prevail once their bias is more thoroughly understood and their variance is better controlled.

  11. Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

    Directory of Open Access Journals (Sweden)

    Wolyniak MJ

    2015-10-01

    Full Text Available Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential subject to be mastered by health professional students of all types. However, technological advances in genomics and recent pedagogical research have changed the way in which many medical training programs teach genetics to their students. These advances favor a more experience-based education focused primarily on developing student's critical thinking skills. In this review, we examine the current state of genetics education at both the preclinical and clinical levels and the ways in which medical and pedagogical research have guided reforms to current and emerging teaching practices in genetics. We discover exciting trends taking place in which genetics is integrated with other scientific disciplines both horizontally and vertically across medical curricula to emphasize training in scientific critical thinking skills among students via the evaluation of clinical evidence and consultation of online databases. These trends will produce future health professionals with the skills and confidence necessary to embrace the new tools of medical practice that have emerged from scientific advances in genetics, genomics, and bioinformatics. Keywords: genetics education, medical genetics, pedagogical practice, active learning, problem-based learning

  12. Statistical measures of genetic differentiation of populations:Rationales, history and current states

    Institute of Scientific and Technical Information of China (English)

    Liang MA; Ya-Jie JI; De-Xing ZHANG

    2015-01-01

    Population differentiation is a fundamental process of evolution, and many evolutionary studies, such as population genetics, phylogeography and conservation biology, all require the inference of population differentiation. Recently, there has been a lot of debate over the validity ofFST (and its analogueGST) as a measure for population genetic differentiation, notably since the proposal of the new indexD in 2008. Although several papers reviewed or explored specific features of these statistical measures, a succinct account of this bewildering issue with an overall update appears to be desirable. This is the purpose of the present review. The available statistics generally fall into two categories, represented byFST andD, respectively. None of them is perfect in measuring population genetic differentiation. Nevertheless, they each have advantages and are valuable for current re-search. In practice, both indices should be calculated and a comparison of them can generate useful insights into the evolutionary processes that influence population differentiation.FST (GST) has some unique irreplaceable characteristics assuring its standing as the default measure for the foreseeable near future. Also, it will continue to serve as the standard for any alternative measures to contrast with. Instead of being anxious about making choice between these indices, one should pay due attention to the equili-brium status and the level of diversity (especiallyHS) of the populations, since they largely sway the power of a given statistic to address a specific question. We provide a multi-faceted comparative summary of the various statistics, which can serve as a basic reference for readers to guide their applications [Current Zoology 61 (5): 886–897, 2015].

  13. A New Modeling Method Based on Genetic Neural Network for Numeral Eddy Current Sensor

    Institute of Scientific and Technical Information of China (English)

    Along Yu; Zheng Li

    2006-01-01

    In this paper, we present a method used to the numeral eddy current sensor modeling based on genetic neural network to settle its nonlinear problem. The principle and algorithms of genetic neural network are introduced. In this method,the nonlinear model parameters of the numeral eddy current sensor are optimized by genetic neural network (GNN) according to measurement data. So the method remains both the global searching ability of genetic algorithm and the good local searching ability of neural network. The nonlinear model has the advantages of strong robustness, on-line scaling and high precision. The maximum nonlinearity error can be reduced to 0.037% using GNN. However, the maximum nonlinearity error is 0.075% using least square method (LMS).

  14. Current antiplatelet agents: place in therapy and role of genetic testing.

    Science.gov (United States)

    Yang, Eugene

    2015-04-01

    Antiplatelet therapies play a central role in reducing the risk of cardiovascular events such as myocardial infarction and stroke. While aspirin, a cyclo-oxygenase-1 inhibitor has been the cornerstone of antithrombotic treatment for several decades, P2Y12 receptor inhibitors cangrelor, clopidogrel, prasugrel, and ticagrelor and protease-activated receptor-1 antagonist vorapaxar, have emerged as additional therapies to reduce the risk of recurrent cardiovascular events in high-risk patients. Recent clinical trials evaluating the role of these agents and major society guideline updates for use of antiplatelet therapies for secondary prevention of cardiovascular events will be examined. The latest studies regarding the appropriate duration of dual antiplatelet therapy after percutaneous coronary intervention will be presented. The current state of genetic and platelet function testing will be reviewed.

  15. Genetic diversity studies of Kherigarh cattle based on microsatellite markers

    Indian Academy of Sciences (India)

    A. K. Pandey; Rekha Sharma; Yatender Singh; B. B. Prakash; S. P. S. Ahlawat

    2006-08-01

    We report a genetic diversity study of Kherigarh cattle, a utility draught-purpose breed of India, currently declining at a startling rate, by use of microsatellite markers recommended by the Food and Agriculture Organization. Microsatellite genotypes were derived, and allelic and genotypic frequencies, heterozygosities and gene diversity were estimated. A total of 131 alleles were distinguished by the 21 microsatellite markers used. All the microsatellites were highly polymorphic, with mean (± s.e.) allelic number of 6.24 ± 1.7, ranging 4–10 per locus. The observed heterozygosity in the population ranged between 0.261 and 0.809, with mean (± s.e.) of 0.574 ± 0.131, indicating considerable genetic variation in this population. Genetic bottleneck hypotheses were also explored. Our data suggest that the Kherigarh breed has not experienced a genetic bottleneck in the recent past.

  16. The genetic architecture of coronary artery disease: current knowledge and future opportunities

    Science.gov (United States)

    Recent Findings Large-scale studies in human populations, coupled with rapid advances in genetic technologies over the last decade, have clearly established the association of common genetic variation with risk of CAD. However, the effect sizes of the susceptibility alleles are for the most part mod...

  17. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

    Science.gov (United States)

    Lee, Kristy; Garg, Seema

    2015-04-01

    Inherited eye disorders are a significant cause of vision loss. Genetic testing can be particularly helpful for patients with inherited retinal dystrophies because of genetic heterogeneity and overlapping phenotypes. The need to identify a molecular diagnosis for retinal dystrophies is particularly important in the era of developing novel gene therapy-based treatments, such as the RPE65 gene-based clinical trials and others on the horizon, as well as recent advances in reproductive options. The introduction of massively parallel sequencing technologies has significantly advanced the identification of novel gene candidates and has expanded the landscape of genetic testing. In a relatively short time clinical medicine has progressed from limited testing options to a plethora of choices ranging from single-gene testing to whole-exome sequencing. This article outlines currently available genetic testing and factors to consider when selecting appropriate testing for patients with inherited retinal dystrophies.

  18. The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates

    Directory of Open Access Journals (Sweden)

    Ather MH

    2012-11-01

    Full Text Available M Hammad Ather,1 Tahmeena Siddiqui21Dept of Surgery, Aga Khan University, 2Karachi Medical and Dental College, Karachi, PakistanAbstract: Prostate cancer (PC displays a strong familial link and genetic factors; genes regulating inflammation may have a pivotal role in the disease. Epigenetic changes control chromosomal integrity, gene functions, and, ultimately, carcinogenesis. The most widely studied epigenetic event in PC is aberrant DNA methylation (hypo- and hypermethylation; besides this, chromatin remodeling and micro RNA (miRNA are other studied alterations in PC. These all lead to genomic instability and inappropriate gene expression. Causative dysfunction of histone modifying enzymes results in generic and locus-specific changes in chromatin remodeling. miRNA deregulation also contributes to prostate carcinogenesis, including interference with androgen-receptor signaling and apoptosis. These epigenetic alterations have the potential to act as biomarkers for PC for screening and diagnosis as well as prognosis and follow-up. The variable biological potential for a newly diagnosed PC is one of the biggest challenges. The other major clinical problem is in the management of castration-resistant PC. Neuroendocrine (NE differentiation is one of the putative explanations for the development of castration-resistant disease. Most advanced and poorly differentiated cancer does not produce prostate-specific antigen (PSA in response to disease progression. Circulating and tissue biomarkers like chromogranin A (CgA thus become important tools. There is the potential to use various genetic and epigenetic alterations and NE differentiation as therapeutic targets in the management of PC. However, we are still some distance from developing clinically effective tools. Valuable insights into the nature of NE differentiation in PC have been gained in the last decades, but additional understanding of its pathogenetic mechanisms is needed. This will help in

  19. [Genetics in the study of HIV infection].

    Science.gov (United States)

    Amoroso, Antonio; Savoldi, Silvana

    2012-01-01

    Thirty years after the discovery of the human immunodeficiency virus (HIV) as the cause of acquired immunodeficiency syndrome (AIDS), no effective vaccines are available and there is no cure for the disease. The susceptibility to HIV infection shows a considerable degree of individual heterogeneity, which may be largely due to the genetic variability of the host. In an effort to find the host factors required for viral replication, to identify the crucial pathogenetic pathways, and reveal the full armament of host defenses, there has been a shift from candidate-gene studies to unbiased genomewide genetic and functional studies. Nevertheless, the number of established genetic factors involved in the susceptibility to diseases caused by HIV infection remains small, explaining only 15-20% of the observed heterogeneity, most of which is attributable to polymorphisms of human leukocyte antigens (HLA). Genetic studies, however, have allowed to clarify which genetic variations underlie the adverse response to some antiretroviral drugs (such as HLA-B*5701 in the treatment with abacavir) or the occurrence of renal complications as the disease progresses. The results of these studies already have a possible impact on healthcare practice.

  20. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

    DEFF Research Database (Denmark)

    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.;

    2015-01-01

    Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in ...

  1. Study of longshore current equations for currents in Visakhapatnam beach

    Digital Repository Service at National Institute of Oceanography (India)

    Chandramohan, P.; Rao, T.V.N.

    Longshore currents were measured along the Visakhapatnam Beach, Andhra Pradesh, India at weekly intervals from March 1978 to March 1979. Visual observations on breaker characteristics were also made during this period. Using modified Longuet...

  2. Insights into metabolic disease from studying genetics in isolated populations

    DEFF Research Database (Denmark)

    Zeggini, Eleftheria; Gloyn, Anna L; Hansen, Torben

    2016-01-01

    for diabetes and metabolic disease, drawing on specific examples from populations in Greece and Greenland. This review summarises a presentation given at the 'Exciting news in genetics of diabetes' symposium at the 2015 annual meeting of the EASD, with topics presented by Eleftheria Zeggini and Torben Hansen...... variation on disease risk. Current efforts are now focused on extending this to genetic variants in the rare and low-frequency spectrum by capitalising on next-generation sequencing technologies. This review discusses the important contributions that studies in isolated populations are making to this effort...

  3. Studies of Current Dependent Effects at ANKA

    CERN Document Server

    Müller, A S; Huttel, E; Pérez, F; Pont, M; Zimmermann, Frank

    2004-01-01

    The ANKA electron storage ring is operated at energies between 0.5 and 2.5 GeV. A major requirement for a synchrotron light source, such as ANKA, is to achieve a high beam current. A multitude of mostly impedance related effects depend on either bunch or total beam current. This paper gives an overview over the various beam studies performed at ANKA in this context, specifically the observation of current dependent detuning, the determination of the bunch length change with current from a measurement of the ratio between coherent and incoherent synchrotron tune and an assessment of the effective longitudinal loss factor from the current dependent horizontal closed orbit distortion.

  4. Inrush Current Simulation of Power Transformer using Machine Parameters Estimated by Design Procedure of Winding Structure and Genetic Algorithm

    Science.gov (United States)

    Tokunaga, Yoshitaka

    This paper presents estimation techniques of machine parameters for power transformer using design procedure of transformer and genetic algorithm with real coding. Especially, it is very difficult to obtain machine parameters for transformers in customers' facilities. Using estimation techniques, machine parameters could be calculated from the only nameplate data of these transformers. Subsequently, EMTP-ATP simulation of the inrush current was carried out using machine parameters estimated by techniques developed in this study and simulation results were reproduced measured waveforms.

  5. The Ischemic Stroke Genetics Study (ISGS Protocol

    Directory of Open Access Journals (Sweden)

    Rich Stephen S

    2003-07-01

    Full Text Available Abstract Background The molecular basis for the genetic risk of ischemic stroke is likely to be multigenic and influenced by environmental factors. Several small case-control studies have suggested associations between ischemic stroke and polymorphisms of genes that code for coagulation cascade proteins and platelet receptors. Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype. Methods/Design The Ischemic Stroke Genetic Study is a prospective, multicenter genetic association study in adults with recent first-ever ischemic stroke confirmed with computed tomography or magnetic resonance imaging. Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls. Stroke subtypes are determined by central blinded adjudication using standardized, validated mechanistic and syndromic classification systems. The panel of genes to be tested for polymorphisms includes β-fibrinogen and platelet glycoprotein Ia, Iba, and IIb/IIIa. Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future. Discussion The study is designed to minimize survival bias and to allow for exploring associations between specific polymorphisms and individual subtypes of ischemic stroke. The data set will also permit the study of genetic determinants of stroke outcome. Having cell lines will permit testing of future candidate risk factor genes.

  6. Studies on the Pathophysiology and Genetic Basis of Migraine

    Science.gov (United States)

    Gasparini, Claudia F; Sutherland, Heidi G.; Griffiths, Lyn R

    2013-01-01

    Migraine is a neurological disorder that affects the central nervous system causing painful attacks of headache. A genetic vulnerability and exposure to environmental triggers can influence the migraine phenotype. Migraine interferes in many facets of people’s daily life including employment commitments and their ability to look after their families resulting in a reduced quality of life. Identification of the biological processes that underlie this relatively common affliction has been difficult because migraine does not have any clearly identifiable pathology or structural lesion detectable by current medical technology. Theories to explain the symptoms of migraine have focused on the physiological mechanisms involved in the various phases of headache and include the vascular and neurogenic theories. In relation to migraine pathophysiology the trigeminovascular system and cortical spreading depression have also been implicated with supporting evidence from imaging studies and animal models. The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies. PMID:24403849

  7. Studying Extrachromosomal Genetic Elements in Sulfolobus

    DEFF Research Database (Denmark)

    Guannan, Liu

    facilitated the characterization of viruses, plasmids and membrane vesicles. Studying the interactions between Sulfolobus and extrachromosomal genetic elements has provided many new insights into basic molecular processes. Secreted membrane vesicle seems to be a common characteristic for Sulfolobus. In order...... of random chromosomal fragments, including IS elements. The results suggest that membrane vesicles could serve as vehicles for the inter-cellular transport of genetic material. A variant of ATV, ATV2, was isolated that infected a newly isolated Sulfolobus solfataricus P3 strain. Comparative genomics......, whereas the deactivation of pKEF9 in S. solfataricus was caused by mobile elements after it had integrated into the host genome....

  8. Studying Extrachromosomal Genetic Elements in Sulfolobus

    DEFF Research Database (Denmark)

    Guannan, Liu

    facilitated the characterization of viruses, plasmids and membrane vesicles. Studying the interactions between Sulfolobus and extrachromosomal genetic elements has provided many new insights into basic molecular processes. Secreted membrane vesicle seems to be a common characteristic for Sulfolobus. In order...... of random chromosomal fragments, including IS elements. The results suggest that membrane vesicles could serve as vehicles for the inter-cellular transport of genetic material. A variant of ATV, ATV2, was isolated that infected a newly isolated Sulfolobus solfataricus P3 strain. Comparative genomics......, whereas the deactivation of pKEF9 in S. solfataricus was caused by mobile elements after it had integrated into the host genome....

  9. Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature

    Institute of Scientific and Technical Information of China (English)

    Patricia; Sarlos; Erzsebet; Kovesdi; Lili; Magyari; Zsolt; Banfai; Andras; Szabo; Andras; Javorhazy; Bela; Melegh

    2014-01-01

    Ulcerative colitis(UC) is one of the main types of inflammatory bowel disease, which is caused by dysregulated immune responses in genetically predisposed individuals. Several genetic factors, including interleukin and interleukin receptor gene polymorphisms and other inflammation-related genes play central role in mediating and modulating the inflammation in the human body, thereby these can be the main cause of development of the disease. It is clear these data are very important for understanding the base of the disease, especially in terms of clinical utility and validity, but summarized literature is exiguous for challenge health specialist that can used in the clinical practice nowadays. This review summarizes the current literature on inflammationrelated genetic polymorphisms which are associated with UC. We performed an electronic search of Pubmed Database among publications of the last 10 years, using the following medical subject heading terms: UC, ulcerative colitis, inflammation, genes, polymorphisms, and susceptibility.

  10. Understanding Salesforce Behavior using Genetic Association Studies

    NARCIS (Netherlands)

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of the

  11. Understanding Salesforce Behavior using Genetic Association Studies

    NARCIS (Netherlands)

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of the

  12. Current Status of Integral Medical Study on Endometriosis

    Institute of Scientific and Technical Information of China (English)

    YU Chao-qin (俞超芹); YU Jin (俞瑾)

    2003-01-01

    @@ Endometriosis (EM), an estrogen dependent disease that comes from the planting of endometrial gland and stroma outside the uterine cavity, is characterized by invasiveness, wide planting and liability to relapse. It has been proved by recent studies that the pathogenesis of EM has its genetic background and is closely related with neuro-, endocrino- and immuno-factors. There has been great progress in the treatment of EM, but the clinical effect is not yet satisfactory. Traditional Chinese medicine (TCM) has definitely played its role in EM treatment. In this article, the current status of integral medical study on EM is reviewed.

  13. Presymptomatic studies in genetic frontotemporal dementia.

    Science.gov (United States)

    Rohrer, J D; Warren, J D; Fox, N C; Rossor, M N

    2013-10-01

    Approximately 20% of patients with the neurodegenerative disorder frontotemporal dementia (FTD) have an autosomal dominant pattern of inheritance. Genetic FTD is caused by mutations in three genes in most cases (progranulin, microtubule-associated protein tau and chromosome 9 open reading frame 72) although a number of other genes are rare causes. Studies of other neurodegenerative diseases have shown imaging and biomarker evidence of disease onset many years prior to the development of symptoms. Similar studies in genetic FTD are now revealing evidence of a series of presymptomatic changes, initially in plasma biomarkers followed by MR imaging abnormalities of functional and structural connectivity and then grey matter atrophy. Lastly, neuropsychometric tests become abnormal in proximity to the onset of symptoms. Such studies have been relatively small until now but research centres with an expertise in genetic FTD are now forming consortia such as the Genetic Frontotemporal Dementia Initiative (GenFI) to create larger cohorts that can form the basis of future clinical trials. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  14. 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.

  15. Multiscale Study of Currents Affected by Topography

    Science.gov (United States)

    2015-09-30

    boundary layers to influence the ambient larger-scale flow. We have studied these issues through ocean model simulations, adjoint sensitivity...circulation be monitored from pressure gauges, temperature sensors, current meters, or other measurements near the feature? • The influence of the

  16. Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD

    Science.gov (United States)

    Pichavant, Christophe; Aartsma-Rus, Annemieke; Clemens, Paula R; Davies, Kay E; Dickson, George; Takeda, Shin'ichi; Wilton, Steve D; Wolff, Jon A; Wooddell, Christine I; Xiao, Xiao; Tremblay, Jacques P

    2011-01-01

    Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every 3,500 boys. This X-linked pathology is due to the absence of dystrophin in muscle fibers. This lack of dystrophin leads to the progressive muscle degeneration that is often responsible for the death of the DMD patients during the third decade of their life. There are currently no curative treatments for this disease but different therapeutic approaches are being studied. Gene therapy consists of introducing a transgene coding for full-length or a truncated version of dystrophin complementary DNA (cDNA) in muscles, whereas pharmaceutical therapy includes the use of chemical/biochemical substances to restore dystrophin expression or alleviate the DMD phenotype. Over the past years, many potential drugs were explored. This led to several clinical trials for gentamicin and ataluren (PTC124) allowing stop codon read-through. An alternative approach is to induce the expression of an internally deleted, partially functional dystrophin protein through exon skipping. The vectors and the methods used in gene therapy have been continually improving in order to obtain greater encapsidation capacity and better transduction efficiency. The most promising experimental approaches using pharmaceutical and gene therapies are reviewed in this article. PMID:21468001

  17. The ENIQ pilot study: current status

    Energy Technology Data Exchange (ETDEWEB)

    Lemaitre, P.; Eriksen, B.; Crutzen, S. [European Commission, DG Joint Research Centre, Petten (Netherlands); Hansch, M. [Preussische Elektrizitaets-AG (Preussenelektra), Hannover (Germany); Whittle, J. [AEA Technology, Warrington (United Kingdom)

    1998-11-01

    A pilot study is currently being carried out by ENIQ (European Network for Inspection Qualification) in order to explore the issues involved in inspection qualification applied along the general principles of the European methodology. The components selected for the pilot study are austenitic pipe to pipe and pipe to elbows welds typical of those in BWR recirculation loops. A range of defect parameters has been defined. A suitable inspection procedure designed to find the designated defects will be applied to geometrically representative test pieces. The procedure/equipment will be qualified through open trials and technical justification. The personnel qualification will be done in a blind way. Once all features of the inspection system will have been qualified an in-service inspection will be simulated in order to test the feasibility of the qualification approach followed. In this paper the current status of this pilot study is discussed. (orig.)

  18. GESDB: a platform of simulation resources for genetic epidemiology studies.

    Science.gov (United States)

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.twDatabase URL: http://gesdb.nhri.org.tw.

  19. Current Situations of Competitive Scientific Research Projects for Agri-scientific Research Institutions: A Case Study of Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences

    Institute of Scientific and Technical Information of China (English)

    Haiyan; LUO; Qingqun; YAO; Lizhen; CHEN; Yu; ZHENG

    2015-01-01

    This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistical analysis on quantity of projects,funded amount,age of person responsible,professional title of person responsible,academic degree of person responsible,research object,it discussed relevant characteristics and rules. Finally,it came up with pertinent measures and recommendations,in the hope of providing services for decision-making and scientific and technological management.

  20. [Current registry studies of acute ischemic stroke].

    Science.gov (United States)

    Veltkamp, R; Jüttler, E; Pfefferkorn, T; Purrucker, J; Ringleb, P

    2012-10-01

    Study registries offer the opportunity to evaluate the effects of new therapies or to observe the consequences of new treatments in clinical practice. The SITS-MOST registry confirmed the validity of findings from randomized trials on intravenous thrombolysis concerning safety and efficacy in the clinical routine. Current study registries concerning new interventional thrombectomy techniques suggest a high recanalization rate; however, the clinical benefit can only be evaluated in randomized, controlled trials. Similarly, the experiences of the BASICS registry on basilar artery occlusion have led to the initiation of a controlled trial. The benefit of hemicraniectomy in malignant middle cerebral artery infarction has been demonstrated by the pooled analysis of three randomized trials. Numerous relevant aspects are currently documented in the DESTINY-R registry. Finally, the recently started RASUNOA registry examines diagnostic and therapeutic aspects of ischemic and hemorrhagic stroke occurring during therapy with new oral anticoagulants.

  1. Study of Siberian forest genetic resources

    Directory of Open Access Journals (Sweden)

    L. I. Milyutin

    2016-06-01

    Full Text Available Forest genetic resources are the aggregate of genofonds of native and cultivar populations of forest woody plants, valuable really or potential for specific territory (A brief dictionary… 2014. Forest genetic resources are studied in practice in most cases on example of forest-forming woody plants. It is necessary to consider of study of these resources in two positions: taxonomic and geographic. Forest forming coniferous species are studied best of all from the taxonomic point of view taking into account biodiversity. Genetic polymorphism is studied most in detail with such species as Pinus sylvestris, Pinus sibirica, Larix sibirica, Larix sukaczevii, Picea obovata, Abies sibirica. Populations of Larix gmelinii, Larix cajanderi, Picea ajanensis are studied considerable worse. Materials about genetic polymorphism of forest forming foliage species – representative of genera Betula and Populus are absent. Caryological polymorphism is studied sufficiently well in all Siberian conifer species. It should be noted especially attached to examination of this problem, that individuals with B-chromosome were discovered first by gymnosperms as an example Picea obovata. Discovery in Siberia of triploid asp deserve special attention. Geographic variability is shown most broadly in the investigations of Pinus sylvestris, Pinus sibirica, Larix sibirica. These investigations were conducted both in natural populations and in provenance trials. Such investigations of another conifer and foliage species either are shown by separate fragments or are absent at all Geographic variability is shown in a large measure in the operative forest seed sources regionalization. Numerous investigations directed to the analysis of morphological variability are conducted by all forest forming species in the first place by conifers. Questions of hereditary determination of either signs remain in this problem. Similar questions concern the variability of other signs

  2. A strategy analysis for genetic association studies with known inbreeding

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

    Full Text Available Abstract Background Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees. This type of studies has been very successful in the case of Mendelian monogenic disorders while it has been less successful in identifying genetic variants related to complex diseases where the insurgence depends on the interactions between different genes and the environment. The current technology allows to genotype more than a million of markers and this number has been rapidly increasing in the last years with the imputation based on templates sets and whole genome sequencing. This type of data introduces a great amount of noise in the statistical analysis and usually requires a great number of samples. Current methods seldom take into account gene-gene and gene-environment interactions which are fundamental especially in complex diseases. In this paper we propose to use a non-parametric additive model to detect the genetic variants related to diseases which accounts for interactions of unknown order. Although this is not new to the current literature, we show that in an isolated population, where the most related subjects share also most of their genetic code, the use of additive models may be improved if the available genealogical tree is taken into account. Specifically, we form a sample of cases and controls with the highest inbreeding by means of the Hungarian method, and estimate the set of genes/environmental variables, associated with the disease, by means of Random Forest. Results We have evidence, from statistical theory, simulations and two applications, that we build a suitable procedure to eliminate stratification between cases and controls and that it also has enough precision in identifying genetic variants responsible for a disease. This procedure has been successfully used for the beta-thalassemia, which is

  3. Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.

    Science.gov (United States)

    Kalman, Lisa V; Lubin, Ira M; Barker, Shannon; du Sart, Desiree; Elles, Rob; Grody, Wayne W; Pazzagli, Mario; Richards, Sue; Schrijver, Iris; Zehnbauer, Barbara

    2013-07-01

    Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests. To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies. The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers. Proficiency testing/EQA schemes are available for common genetic disorders tested in many clinical laboratories but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of many tests for which formal PT is not currently available. Participation in PT/EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in their testing processes. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed.

  4. Genetic considerations for mollusc production in aquaculture: current state of knowledge.

    Directory of Open Access Journals (Sweden)

    Marcela eAstorga

    2014-12-01

    Full Text Available IIn 2012, world mollusk production in aquaculture reached a volume of 15,171,000 tons, representing 23% of total aquaculture production and positioning mollusks as the second most important category of aquaculture products (fishes are the first. Clams and oysters are the mollusk species with the highest production levels, followed in descending order by mussels, scallops and abalones. In view of the increasing importance attached to genetic information on aquaculture, which can help with good maintenance and thus the sustainability of production, the present work offers a review of the state of knowledge on genetic and genomic information about mollusks produced in aquaculture. The analysis was applied to mollusks which are of importance for aquaculture, with emphasis on the 5 species with the highest production levels. According to FAO, these are: Japanese clam Ruditapes philippinarum; Pacific oyster Crassostrea gigas; Chilean mussel Mytilus chilensis; Blood clam Anadara granosa and Chinese clam Sinonovacula constricta. To date, the genomes of 5 species of mollusks have been sequenced, only one of which, Crassostrea gigas, coincides with the species with the greatest production in aquaculture. Another important species whose genome has been sequenced is Mytilus galloprovincialis, which is the second most important mussel in aquaculture production, after M. chilensis. Few genetic improvement programs have been reported in comparison with the number reported in fish species. The most commonly investigated species are oysters, with at least 5 genetic improvement programs reported, followed by abalones with 2 programs and mussels with one. The results of this work will establish the current situation with respect to the genetics of mollusks which are of importance for aquaculture production, in order to assist future decisions to ensure the sustainability of these resources.

  5. Implications of genetics and current protected areas for conservation of 5 endangered primates in China.

    Science.gov (United States)

    Liu, Zhijin; Liu, Guangjian; Roos, Christian; Wang, Ziming; Xiang, ZuoFu; Zhu, Pingfen; Wang, Boshi; Ren, Baoping; Shi, Fanglei; Pan, Huijuan; Li, Ming

    2015-12-01

    Most of China's 24-28 primate species are threatened with extinction. Habitat reduction and fragmentation are perhaps the greatest threats. We used published data from a conservation genetics study of 5 endangered primates in China (Rhinopithecus roxellana, R. bieti, R. brelichi, Trachypithecus francoisi, and T. leucocephalus); distribution data on these species; and the distribution, area, and location of protected areas to inform conservation strategies for these primates. All 5 species were separated into subpopulations with unique genetic components. Gene flow appeared to be strongly impeded by agricultural land, meadows used for grazing, highways, and humans dwellings. Most species declined severely or diverged concurrently as human population and crop land cover increased. Nature reserves were not evenly distributed across subpopulations with unique genetic backgrounds. Certain small subpopulations were severely fragmented and had higher extinction risk than others. Primate mobility is limited and their genetic structure is strong and susceptible to substantial loss of diversity due to local extinction. Thus, to maximize preservation of genetic diversity in all these primate species, our results suggest protection is required for all sub-populations. Key priorities for their conservation include maintaining R. roxellana in Shennongjia national reserve, subpopulations S4 and S5 of R. bieti and of R. brelichi in Fanjingshan national reserve, subpopulation CGX of T. francoisi in central Guangxi Province, and all 3 T. leucocephalus sub-populations in central Guangxi Province. © 2015 Society for Conservation Biology.

  6. Genetic and epigenetic changes in vulvar squamous cell carcinoma and its precursor lesions: a review of the current literature.

    Science.gov (United States)

    Trietsch, Marjolijn D; Nooij, Linda S; Gaarenstroom, Katja N; van Poelgeest, Mariette I E

    2015-01-01

    Vulvar cancer is a relatively rare gynecologic malignancy with an annual incidence in developed countries of approximately 2 per 100,000 women. Vulvar squamous cell carcinoma (VSCC) has two etiological pathways: a high risk human papillomavirus (HPV)-dependent route, which has usual vulvar intraepithelial neoplasia (uVIN) as a precursor lesion, and an HPV-independent route, which is associated with differentiated VIN (dVIN), lichen sclerosus, and genetic alterations, such as TP53 mutations. Research on the molecular etiology of vulvar cancer has increased in the past years, not only regarding genetic alterations, but also epigenetic changes. In genetic alterations, a mutation irreversibly changes the nucleotide sequence of the DNA, or the number of copies of chromosomes per cell is altered. In epigenetics, the nucleotide sequence remains the same but genes can be 'switched' on or off by, for example, DNA methylation or histone modification. We searched the current literature on genetic and epigenetic alterations in VSCC and its precursor lesions. Many studies have reported a higher incidence of somatic mutations in HPV-negative tumors compared to HPV-positive tumors, with TP53 mutations being the most frequent. Allelic imbalances or loss of heterozygosity are more frequently found in higher stages of dysplasia and in invasive carcinomas, but it is not exclusive to HPV-negative tumors. A limited number of studies are available on epigenetic changes in vulvar lesions, with hypermethylation of CDKN2A being the most frequently investigated change. For most genes, hypermethylation occurs more frequently in vulvar squamous cell carcinomas than in precursor lesions. As most studies have focused on HPV infection and TP53 mutations, we suggest that more research should be performed using whole genome or next generation sequencing to determine the true landscape of genetic and epigenetic alterations in vulvar squamous cell carcinoma.

  7. Current status of genetic transformation technology developed in cucumber (Cucumis sativus L.)

    Institute of Scientific and Technical Information of China (English)

    WANG Shun-li; Seong Sub Ku; YE Xing-guo; HE Cong-fen; Suk Yoon Kwon; Pil Son Choi

    2015-01-01

    Genetic transformation is an important technique for functional genomics study and genetic improvement of plants. Until now, Agrobacterium-mediated transformation methods using cotyledon as explants has been the major approach for cu-cumber, and its frequency has been up to 23%. For example, signiifcantly enhancement of the transformation efifciency of this plant species was achieved from the cotyledon explants of the cultivar Poinsett 76 infected by Agrobacterium strains EHA105 with efifcient positive selection system in lots of experiments. This review is to summarize some key factors in-lfuencing cucumber regeneration and genetic transformation, including target genes, selection systems and the ways of transgene introduction, and then to put forward some strategies for the increasing of cucumber transformation efifciency. In the future, it is high possible for cucumber to be potential bioreactor to produce vaccine and biomaterials for human beings.

  8. Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.

    Science.gov (United States)

    Huys, Isabelle; Van Overwalle, Geertrui; Matthijs, Gert

    2011-10-01

    The paper focuses on the fundamental debate that is going on in Europe and the United States about whether genes and genetic diagnostic methods are to be regarded as inventions or subject matter eligible for patent protection, or whether they are discoveries or principles of nature and thus excluded from patentability. The study further explores some possible scenarios of American influences on European patent applications with respect to genetic diagnostic methods. Our analysis points out that patent eligibility for genes and genetic diagnostic methods, as discussed in the United States in the Association of Molecular Pathology versus US Patent and Trademark Office decision, is based on a different reasoning compared with the European Patent Convention.

  9. Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks

    Directory of Open Access Journals (Sweden)

    Amanda Ackermann

    2014-09-01

    Full Text Available Patients with Turner syndrome (TS require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1 the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2 which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3 options for assisted reproduction in these patients and associated risks, 4 the increased risk of mortality associated with pregnancy in this population, and 5 how best to assess and monitor cardiovascular risks.

  10. Representing genetic variation as continuous surfaces: An approach for identifying spatial dependency in landscape genetic studies

    Science.gov (United States)

    Melanie A. Murphy; Jeffrey S. Evans; Samuel A. Cushman; Andrew Storfer

    2008-01-01

    Landscape genetics, an emerging field integrating landscape ecology and population genetics, has great potential to influence our understanding of habitat connectivity and distribution of organisms. Whereas typical population genetics studies summarize gene flow as pairwise measures between sampling localities, landscape characteristics that influence population...

  11. A Genetic Study on Myasthenia Gravis

    Institute of Scientific and Technical Information of China (English)

    Lu Chuan-Zhen; Zhou Zhigang; Wu Yongqin

    2000-01-01

    @@Myasthenia Gravis is considered as an autoimmune disease caused by circulating ant:bodies against acetylcholine receptor(AchR) at neuromuscular junctions. Although thousands of studies in the field of function of AchR, activation passway of immune response on MG, genetic control of o-subunit of AchR have been done in the world since 1970's, it is still unclear what is the initial factor of autoimmune response and what hind of genes control are in MG patients.

  12. A study of model bivalve siphonal currents

    Science.gov (United States)

    Monismith, Stephen G.; Koseff, Jeffrey R.; Thompson, Janet K.; O'Riordan, Catherine A.; Nepf, Heidi M.

    1990-01-01

    We carried out experiments studying the hydrodynamics of bivalve siphonal currents in a laboratory flume. Rather than use living animals, we devised a simple, model siphon pair connected to a pump. Fluorescence-based flow visualization was used to characterize siphon-jet flows for several geometric configurations and flow speeds. These measurements show that the boundary-layer velocity profile, siphon height, siphon pair orientation, and size of siphon structure all affect the vertical distribution of the excurrent flow downstream of the siphon pair and the fraction of excurrent that is refiltered. The observed flows may effect both the clearance rate of an entire population of siphonate bivalves as well as the efficiency of feeding of any individual. Our results imply that field conditions are properly represented in laboratory flume studies of phytoplankton biomass losses to benthic bivalves when the shear velocity and bottom roughness are matched to values found in the field. Numerical models of feeding by a bivalve population should include an effective sink distribution which is created by the combined incurrent-excurrent flow field. Near-bed flows need to be accounted for to properly represent these benthic-pelagic exchanges. We also present velocity measurements made with a laser-Doppler anemometer (LDA) for a single configuration (siphons flush with bed, inlet downstream) that show that the siphonal currents have a significant local effect on the properties of a turbulent boundary layer.

  13. Current Molecular and Genetic Aspects of Pancreatic Cancer, the Role of Metastasis Associated Proteins (MTA): A Review.

    Science.gov (United States)

    Pavlidis, Efstathios T; Pavlidis, Theodoros E

    2017-01-06

    Purpose/aim: To focus on current molecular and genetic aspects and MTA proteins, since pancreatic cancer is a lethal malignant with poor prognosis. Early diagnosis is essential step, contributing to potential curative resection.

  14. Genomic conservation of cattle microsatellite loci in wild gaur (Bos gaurus and current genetic status of this species in Vietnam

    Directory of Open Access Journals (Sweden)

    Renard Jean-Paul

    2007-11-01

    Full Text Available Abstract Background The wild gaur (Bos gaurus is an endangered wild cattle species. In Vietnam, the total number of wild gaurs is estimated at a maximum of 500 individuals. Inbreeding and genetic drift are current relevant threats to this small population size. Therefore, information about the genetic status of the Vietnamese wild gaur population is essential to develop strategies for conservation and effective long-term management for this species. In the present study, we performed cross-species amplification of 130 bovine microsatellite markers, in order to evaluate the applicability and conservation of cattle microsatellite loci in the wild gaur genome. The genetic diversity of Vietnamese wild gaur was also investigated, based on data collected from the 117 successfully amplified loci. Results One hundred-thirty cattle microsatellite markers were tested on a panel of 11 animals. Efficient amplifications were observed for 117 markers (90% with a total of 264 alleles, and of these, 68 (58.1% gave polymorphic band patterns. The number of alleles per locus among the polymorphic markers ranged from two to six. Thirteen loci (BM1314, BM2304, BM6017, BMC2228, BMS332, BMS911, CSSM023, ETH123, HAUT14, HEL11, HEL5, ILSTS005 and INRA189 distributed on nine different cattle chromosomes failed to amplify wild gaur genomic DNA. Three cattle Y-chromosome specific microsatellite markers (INRA124, INRA126 and BM861 were also highly specific in wild gaur, only displaying an amplification product in the males. Genotype data collected from the 117 successfully amplified microsatellites were used to assess the genetic diversity of this species in Vietnam. Polymorphic Information Content (PIC values varied between 0.083 and 0.767 with a mean of 0.252 while observed heterozygosities (Ho ranged from 0.091 to 0.909 (mean of 0.269. Nei's unbiased mean heterozygosity and the mean allele number across loci were 0.298 and 2.2, respectively. Conclusion Extensive

  15. Using genetic algorithms to optimise current and future health planning - the example of ambulance locations

    Science.gov (United States)

    2010-01-01

    Background Ambulance response time is a crucial factor in patient survival. The number of emergency cases (EMS cases) requiring an ambulance is increasing due to changes in population demographics. This is decreasing ambulance response times to the emergency scene. This paper predicts EMS cases for 5-year intervals from 2020, to 2050 by correlating current EMS cases with demographic factors at the level of the census area and predicted population changes. It then applies a modified grouping genetic algorithm to compare current and future optimal locations and numbers of ambulances. Sets of potential locations were evaluated in terms of the (current and predicted) EMS case distances to those locations. Results Future EMS demands were predicted to increase by 2030 using the model (R2 = 0.71). The optimal locations of ambulances based on future EMS cases were compared with current locations and with optimal locations modelled on current EMS case data. Optimising the location of ambulance stations locations reduced the average response times by 57 seconds. Current and predicted future EMS demand at modelled locations were calculated and compared. Conclusions The reallocation of ambulances to optimal locations improved response times and could contribute to higher survival rates from life-threatening medical events. Modelling EMS case 'demand' over census areas allows the data to be correlated to population characteristics and optimal 'supply' locations to be identified. Comparing current and future optimal scenarios allows more nuanced planning decisions to be made. This is a generic methodology that could be used to provide evidence in support of public health planning and decision making. PMID:20109172

  16. A Genetic Epidemiological Study of Behavioral Traits

    NARCIS (Netherlands)

    N. Amin (Najaf)

    2011-01-01

    textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to Sir

  17. The genetics of multiple sclerosis: review of current and emerging candidates

    Science.gov (United States)

    Muñoz-Culla, Maider; Irizar, Haritz; Otaegui, David

    2013-01-01

    Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. PMID:24019748

  18. A western boundary current eddy characterisation study

    Science.gov (United States)

    Ribbe, Joachim; Brieva, Daniel

    2016-12-01

    The analysis of an eddy census for the East Australian Current (EAC) region yielded a total of 497 individual short-lived (7-28 days) cyclonic and anticyclonic eddies for the period 1993 to 2015. This was an average of about 23 eddies per year. 41% of the tracked individual cyclonic and anticyclonic eddies were detected off southeast Queensland between about 25 °S and 29 °S. This is the region where the flow of the EAC intensifies forming a swift western boundary current that impinges near Fraser Island on the continental shelf. This zone was also identified as having a maximum in detected short-lived cyclonic eddies. A total of 94 (43%) individual cyclonic eddies or about 4-5 per year were tracked in this region. The census found that these potentially displaced entrained water by about 115 km with an average displacement speed of about 4 km per day. Cyclonic eddies were likely to contribute to establishing an on-shelf longshore northerly flow forming the western branch of the Fraser Island Gyre and possibly presented an important cross-shelf transport process in the life cycle of temperate fish species of the EAC domain. In-situ observations near western boundary currents previously documented the entrainment, off-shelf transport and export of near shore water, nutrients, sediments, fish larvae and the renewal of inner shelf water due to short-lived eddies. This study found that these cyclonic eddies potentially play an important off-shelf transport process off the central east Australian coast.

  19. Testing Current and Developing Novel Therapies for NF1-Mutant Sarcomas in a Genetically Engineered Mouse Model

    Science.gov (United States)

    2015-04-01

    1   AWARD NUMBER: W81XWH-14-1-0067 TITLE: Testing Current and Developing Novel Therapies for NF1 -Mutant Sarcomas in a Genetically Engineered...Mar 2014 - 14 Mar 2015 4. TITLE AND SUBTITLE Testing Current and Developing Novel Therapies for NF1 - Mutant Sarcomas in a Genetically Engineered...Patients with Neurofibromatosis type 1 ( NF1 ) are at increased risk for developing malignant tumors of the connective tissue called soft-tissue sarcomas

  20. The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

    Directory of Open Access Journals (Sweden)

    Hoyle JC

    2015-10-01

    Full Text Available J Chad Hoyle,1 Michael C Isfort,1 Jennifer Roggenbuck,1,2 W David Arnold1,3,4 1Department of Neurology, Division of Neuromuscular Disorders, 2Department of Internal Medicine, Division of Human Genetics, 3Department of Physical Medicine and Rehabilitation, 4Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH, USA Abstract: Charcot–Marie–Tooth (CMT disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, including sensory predominant or motor predominant forms, are sometimes included in the general classification of CMT, but for the purpose of this review, we will focus primarily on the forms associated with both sensory and motor deficits. CMT has a great deal of genetic heterogeneity, leading to diagnostic considerations that are still rapidly evolving for this disorder. Clinical features, inheritance pattern, gene mutation frequencies, and electrodiagnostic features all are helpful in formulating targeted testing algorithms in practical clinical settings, but these still have shortcomings. Next-generation sequencing (NGS, combined with multigene testing panels, is increasing the sensitivity and efficiency of genetic testing and is quickly overtaking targeted testing strategies. Currently, multigene panel testing and NGS can be considered first-line in many circumstances, although obtaining initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology improves and cost continues to fall, targeted testing will be completely replaced by multigene NGS panels that can detect the full spectrum of CMT mutations. Nevertheless, clinical acumen is still necessary given the variants of uncertain significance encountered with NGS. Despite the current limitations

  1. A snapshot of functional genetic studies in Medicago truncatula

    Directory of Open Access Journals (Sweden)

    Yun Kang

    2016-08-01

    Full Text Available In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant.

  2. Genetic studies of the Roma (Gypsies: a review

    Directory of Open Access Journals (Sweden)

    Gresham David

    2001-04-01

    Full Text Available Abstract Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

  3. Genetic Counselors’ Current Use of Personal Health Records-Based Family Histories in Genetic Clinics and Considerations for Their Future Adoption

    OpenAIRE

    Widmer, Chaney; DeShazo, Jonathan P.; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2012-01-01

    Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors’ perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Addit...

  4. Probing genetic control of swine responses to PRRSV infection: current progress of the PRRS host genetics consortium

    Directory of Open Access Journals (Sweden)

    Lunney Joan K

    2011-06-01

    Full Text Available Abstract Background Understanding the role of host genetics in resistance to porcine reproductive and respiratory syndrome virus (PRRSV infection, and the effects of PRRS on pig health and related growth, are goals of the PRRS Host Genetics Consortium (PHGC. Methods The project uses a nursery pig model to assess pig resistance/susceptibility to primary PRRSV infection. To date, 6 groups of 200 crossbred pigs from high health farms were donated by commercial sources. After acclimation, the pigs were infected with PRRSV in a biosecure facility and followed for 42 days post infection (dpi. Blood samples were collected at 0, 4, 7, 10, 14, 21, 28, 35 and 42 dpi for serum and whole blood RNA gene expression analyses; weekly weights were recorded for growth traits. All data have been entered into the PHGC relational database. Genomic DNAs from all PHGC1-6 pigs were prepared and genotyped with the Porcine SNP60 SNPchip. Results Results have affirmed that all challenged pigs become PRRSV infected with peak viremia being observed between 4-21 dpi. Multivariate statistical analyses of viral load and weight data have identified PHGC pigs in different virus/weight categories. Sera are now being compared for factors involved in recovery from infection, including speed of response and levels of immune cytokines. Genome-wide association studies (GWAS are underway to identify genes and chromosomal locations that identify PRRS resistant/susceptible pigs and pigs able to maintain growth while infected with PRRSV. Conclusions Overall, the PHGC project will enable researchers to discover and verify important genotypes and phenotypes that predict resistance/susceptibility to PRRSV infection. The availability of PHGC samples provides a unique opportunity to continue to develop deeper phenotypes on every PRRSV infected pig.

  5. Does smoking among friends explain apparent genetic effects on current smoking in adolescence and young adulthood?

    OpenAIRE

    White, V M; Byrnes, G B; Webster, B.; Hopper, J.L.

    2008-01-01

    We used data from a prospective cohort study of twins to investigate the influence of unmeasured genetic and measured and unmeasured environmental factors on the smoking behaviour of adolescents and young adults. Twins were surveyed in 1988 (aged 11?18 years), 1991, 1996 and 2004 with data from 1409, 1121, 732 and 758 pairs analysed from each survey wave, respectively. Questionnaires assessed the smoking behaviour of twins and the perceived smoking behaviour of friends and parents. Using a no...

  6. The genetics of multiple sclerosis: review of current and emerging candidates

    Directory of Open Access Journals (Sweden)

    Muñoz-Culla M

    2013-08-01

    Full Text Available Maider Muñoz-Culla,1,2 Haritz Irizar,1,2 David Otaegui1,2 1Multiple Sclerosis Unit, Instituto Biodonostia, San Sebastián, Spain; 2Red Española de Esclerosis Múltiple (REEM, Barcelona, Spain Abstract: Multiple sclerosis (MS is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. Keywords: multiple sclerosis, genetics, gene expression, microRNA

  7. CURRENT CONCEPTS ON THE GENETIC FACTORS IN ROTATOR CUFF PATHOLOGY AND FUTURE IMPLICATIONS FOR SPORTS PHYSICAL THERAPISTS

    Science.gov (United States)

    Paré, Jessica; Froehlich, John E

    2017-01-01

    Context Recent advances within the field of genetics are currently changing many of the methodologies in which medicine is practiced. These advances are also beginning to influence the manner in which physical therapy services are rendered. Rotator cuff pathology is one of the most common diagnoses treated by the sports physical therapist. The purpose of this commentary is to educate sports physical therapists on the recent advances regarding how genetics influences rotator cuff pathology, including rotator cuff tears, and provide a perspective on how this information will likely influence post-operative shoulder rehabilitation in the near future. Evidence Acquisition A comprehensive review of the literature was completed using the Medline database along with individual searches of relevant physical therapy, surgical, cell biology, and sports medicine journals. Search terms included: shoulder, rotator cuff pathology, genetics, apoptosis, and physical therapy. Search results were compiled and evaluated; relevant primary studies and review articles were gathered; the results from this comprehensive review are summarized here. Study Design Clinical Commentary, Review of the Literature Results Recent advances within the understanding of rotator cuff pathology have further elucidated the cellular and molecular mechanisms associated with rotator cuff tears. There appears to be a hypoxic-induced apoptotic cellular pathway that contributes to rotator cuff tears. Activation of specific proteins termed matrix metalloproteinases appear to be involved in not only primary rotator cuff tears, but also may influence the re-tear rate after surgical intervention. Further advancements in the understanding of the cellular mechanisms contributing to rotator cuff tears and postoperative techniques to help prevent re-tears, may soon influence the methodology in which physical therapy services are provided to patients sustaining a rotator cuff injury. Conclusions At this time continued

  8. Genetic correlation between current circulating H1N1 swine and human influenza viruses.

    Science.gov (United States)

    Lu, Lu; Yin, Yanbo; Sun, Zhongsheng; Gao, Lei; Gao, George F; Liu, Sidang; Sun, Lei; Liu, Wenjun

    2010-11-01

    H1N1 is the main subtype influenza A virus circulating in human and swine population, and has long been a threat to economy and public health. To explore the genetic correlation between current circulating H1N1 swine and human influenza viruses. Three new H1N1 swine influenza viruses (SIVs) were isolated and genomes sequencing were conducted followed by phylogenetic and molecular analysis of all swine and human H1N1 influenza viruses isolated in China in the past five years. Homology and phylogenetic analysis revealed that the three isolates possessed different characteristics: the genome of A/Swine/Shandong/1112/2008 was closely related to that of classical H1N1 SIV, while A/Swine/Shandong/1123/2008 was a reassortant with NS gene from the human-like H3N2 influenza virus and other genes from the classical H1N1 SIV, and A/Swine/Fujian/0325/2008 fell into a lineage of seasonal human H1N1 influenza viruses. Genetically, 2009 H1N1 influenza A viruses (2009 H1N1) in China were contiguous to the SIV lineages rather than the seasonal H1N1 human influenza virus's lineage. Furthermore, molecular analysis among human and swine influenza viruses provided more detail information for understanding their genetic correlation. These results suggested that in China in the past five years, the classical, avian-like and human-like H1N1 SIV existed in swine herds and the reassortment between H1N1 swine and H3N2 human influenza viruses was identified. In addition, the present data showed no evidence to support a strong correlation between the 2009 H1N1 and the swine influenza virus circulating in China. Copyright © 2010 Elsevier B.V. All rights reserved.

  9. Current concepts of IgE regulation and impact of genetic determinants.

    Science.gov (United States)

    Potaczek, D P; Kabesch, M

    2012-06-01

    Immunoglobulin E (IgE) mediated immune responses seem to be directed against parasites and neoplasms, but are best known for their involvement in allergies. The IgE network is tightly controlled at different levels as outlined in this review. Genetic determinants were suspected to influence IgE regulation and IgE levels considerably for many years. Linkage and candidate gene studies suggested a number of loci and genes to correlate with total serum IgE levels, and recently genome-wide association studies (GWAS) provided the power to identify genetic determinants for total serum IgE levels: 1q23 (FCER1A), 5q31 (RAD50, IL13, IL4), 12q13 (STAT6), 6p21.3 (HLA-DRB1) and 16p12 (IL4R, IL21R). In this review, we analyse the potential role of these GWAS hits in the IgE network and suggest mechanisms of how genes and genetic variants in these loci may influence IgE regulation.

  10. Current genetic counseling in China%中国目前的遗传咨询

    Institute of Scientific and Technical Information of China (English)

    章远志; Nanbert ZHONG

    2006-01-01

    @@ In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the delivery of information about genetic diseases, including genetic risks, natural history of the disease, and clinical management of the disease, to patients and their families. Although genetic counseling is not a new word for both western countries and China, the development of which is quite different. Many excellent genetic counseling programs have been developed since then in developed countries, whereas there is no formal one in China. In the United States, professionals who carry out genetic counseling must have taken a professional training and have had the certificate of American Board of Genetic Counseling (ABGC) (www.abgc.net). The ABGC prepares and administers examinations to certify individuals who provide services in the medical genetics specialty of genetic counseling, and accredits training programs in the field of genetic counseling. There are more than two dozen master degree programs of genetic counseling accredited by the ABGC with either full, interim, or recognized new programs (www.abgc.net). There are twenty-one full credential programs in the United States, three in Australia, three in Canada and two in United Kingdom (www.abgc.net). Looking through all over the China, there is no any official genetic counseling program, so neither any professional genetic counselor. Genetic counseling in China now is not offered by professionally trained genetic counselors, but clinicians such as pediatricians or obstetricians[1]. These clinicians who performing genetic counseling in China have not been trained professionally on genetic counseling. Further more, there is no any board to certificate counselors.

  11. Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective.

    Science.gov (United States)

    Albuquerque, David; Stice, Eric; Rodríguez-López, Raquel; Manco, Licíno; Nóbrega, Clévio

    2015-08-01

    It is well-known that obesity is a complex multifactorial and heterogeneous condition with an important genetic component. Recently, major advances in obesity research emerged concerning the molecular mechanisms contributing to the obese condition. This review outlines several studies and data concerning the genetics and other important factors in the susceptibility risk to develop obesity. Based in the genetic etiology three main categories of obesity are considered: monogenic, syndromic, and common obesity. For the monogenic forms of obesity, the gene causing the phenotype is clearly identified, whereas for the common obesity the loci architecture underlying the phenotype is still being characterized. Given that, in this review we focus mainly in this obesity form, reviewing loci found until now by genome-wide association studies related with the susceptibility risk to develop obesity. Moreover, we also detail the obesity-related loci identified in children and in different ethnic groups, trying to highlight the complexity of the genetics underlying the common obese phenotype. Importantly, we also focus in the evolutionary hypotheses that have been proposed trying to explain how natural selection favored the spread of genes that increase the risk for an obese phenotype and how this predisposition to obesity evolved. Other factors are important in the obesity condition, and thus, we also discuss the epigenetic mechanisms involved in the susceptibility and development of obesity. Covering all these topics we expect to provide a complete and recent perspective about the underlying mechanisms involved in the development and origin of obesity. Only with a full understanding of the factors and mechanisms contributing to obesity, it will be possible to provide and allow the development of new therapeutic approaches to this condition.

  12. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

    Science.gov (United States)

    Graeber, Carolyn P; Hunter, David G; Engle, Elizabeth C

    2013-01-01

    In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

  13. Current progress on genetic interactions of rice with rice blast and sheath blight fungi

    Institute of Scientific and Technical Information of China (English)

    Yulin JIA; Guangjie LIU; Stefano COSTANZO; Seonghee LEE; Yuntao DAI

    2009-01-01

    Analysis of genetic interactions between rice and its pathogenic fungi Magnaporthe oryzae and Rhizoctonia solani should lead to a better understanding of molecular mechanisms of host resistance, and the improvement of strategies to manage rice blast and sheath blight diseases. Currently, dozens office resistance (R) genes against specific races of the blast fungus have been described. Among them, ten were molecularly characterized and some were widely used for breeding for genetic resistance. The Pi-ta gene was one of the best characterized rice R genes. Following the elucidation of its molecular structure, interaction, distribution, and evolution, user friendly DNA markers were developed from portions of the cloned genes to facilitate the incorporations of the Pi-ta mediated resistance into improved rice varieties using marker assisted selection (MAS). However, rice blast is still a major threat for stable rice production because of race change mutations occurring in rice fields, which often overcome added resistance based on single R genes, and these virulent races of M. oryzae pose a continued challenge for blast control. For sheath blight, progress has been made on the exploration of novel sources of resistance from wild rice relatives and indica rice cultivars. A major quantitative trait locus (QTL), named qSB9-2, was recently verified in several mapping populations with different phenotyping methods, including greenhouse methods. The ability to identify qSB9-2 using greenhouse methods should accelerate the efforts on the qSB9-2 fine mapping and positional cloning.

  14. Genetic study of Kelp"901"strain

    Institute of Scientific and Technical Information of China (English)

    XIA Peng; WANG Xiuliang; LI Xiaojie; ZHAO Yushan; YAO Lin; DUAN Delin

    2005-01-01

    Based on DNA extraction and optimization of random amplified reaction (RAPD) to the gametophytes and sporophytes of Kelp"901"strain,genetic study on variation was conducted to its parents and offsprings of F6,F7,F8,and F9 generation.RAPD results have shown that among 30 selected primers for gametophytes,297 loci ranging from 200 to 3 000 bp were obtained in the average of 9.9 loci for each primer.This indicated a high polymorphic rate with RAPD detection.UPGMA(unweighted pair-group method arithmetic average)analysis showed that each male and female gametophyte of a generation could be clustered into one pair separately.The genetic distances of the Kelp 901 generation were 0.321 2-0.476 7,and the maximum was between F7and F8 (0.476 7).Identityanalysis showed that F6 generation was more close to the female parent(0.659 3),and F7 generation was more close to the male parent(0.578 8).To the sporophytes study in 24 selected primers for RAPD amplification,191 loci ranging from 230-2 800 bp were obtained,in the average to each primer of 8.0 loci.The heterozygosity to six populations were male parent(0.223 9),female parent(0.107 2),F6(0.216 4),F7(0.228 6),F8 (0.229 6)and F9 (0.317 2).The nearest genetic distance was 0.083 5(F8,F9).Total heterozygosity (HT)ofF6,F7,F8and F9 generations was 0.318 6,the average heterozygosity(Hs) for F6,F7,F8 and F9 generations was 0.248 0,and deduced coefficient of population differentiation (Gst) was 22.2%.Six sequence characterized amplified regions (SCAR) were preliminary screened through RAPD analysis.It needed to be verified in detail as they are significant for molecular marker assistance in breeding and selecting Laminaria.

  15. Recent Advances in Studies of Current Noise

    Science.gov (United States)

    Blanter, Yaroslav M.

    This is a brief review of recent activities in the field of current noise intended for newcomers. We first briefly discuss main properties of shot noise in nanostructures, and then turn to recent developments, concentrating on issues related to experimental progress: non-symmetrized cumulants and quantum noise; counting statistics; super-Poissonian noise; current noise and interferometry

  16. Molecular genetic studies in flax (Linum usitatissimum L.)

    NARCIS (Netherlands)

    Vromans, J.

    2006-01-01

    In this thesis five molecular genetic studies on flax ( Linum usitatissimum L.) are described, of which two chapters aim to characterize the genetic structure and the amount of genetic diversity in the primary and secondary gene pool of the crop species. Three chapters describe the development of

  17. Appearance traits in fish farming: progress from classical genetics to genomics, providing insight into current and potential genetic improvement

    Science.gov (United States)

    Colihueque, Nelson; Araneda, Cristian

    2014-01-01

    Appearance traits in fish, those external body characteristics that influence consumer acceptance at point of sale, have come to the forefront of commercial fish farming, as culture profitability is closely linked to management of these traits. Appearance traits comprise mainly body shape and skin pigmentation. Analysis of the genetic basis of these traits in different fish reveals significant genetic variation within populations, indicating potential for their genetic improvement. Work into ascertaining the minor or major genes underlying appearance traits for commercial fish is emerging, with substantial progress in model fish in terms of identifying genes that control body shape and skin colors. In this review, we describe research progress to date, especially with regard to commercial fish, and discuss genomic findings in model fish in order to better address the genetic basis of the traits. Given that appearance traits are important in commercial fish, the genomic information related to this issue promises to accelerate the selection process in coming years. PMID:25140172

  18. [Genetically modified food (food derived from biotechnology): current and future trends in public acceptance and safety assessment].

    Science.gov (United States)

    Nishiura, Hiroshi; Imai, Hirohisa; Nakao, Hiroyuki; Tsukino, Hiromasa; Kuroda, Yoshiki; Katoh, Takahiko

    2002-11-01

    Current and future trends regarding genetically modified (GM) crops and food stuffs were reviewed, with a particular focus on public acceptance and safety assessment. While GM foods, foods derived from biotechnology, are popular with growers and producers, they are still a matter of some concern among consumers. In fact, our recent surveys showed that Japanese consumers had become uneasy about the potential health risks of genetically modified foods. Many Japanese consumers have only vague ideas about the actual health risks, and they appear to be making decisions simply by rejecting GM food because of non-informed doubts. Although the debate about GM foods has increased in the mass media and scientific journals, few articles concerning direct studies on the potential toxicity or adverse health effects of GM foods have appeared. The roles of relevant international regulatory bodies in ensuring that GM crops and food are safe are therefore have summarized. Finally, the current debate on use of GM crops in agriculture and future trends for development of GM foods with enriched nutrients, better functionality, and medicinal ingredients, which will be of direct benefit to the consumer, are covered.

  19. Historical processes and contemporary ocean currents drive genetic structure in the seagrass Thalassia hemprichii in the Indo-Australian Archipelago.

    Science.gov (United States)

    Hernawan, Udhi E; van Dijk, Kor-Jent; Kendrick, Gary A; Feng, Ming; Biffin, Edward; Lavery, Paul S; McMahon, Kathryn

    2017-02-01

    Understanding spatial patterns of gene flow and genetic structure is essential for the conservation of marine ecosystems. Contemporary ocean currents and historical isolation due to Pleistocene sea level fluctuations have been predicted to influence the genetic structure in marine populations. In the Indo-Australian Archipelago (IAA), the world's hotspot of marine biodiversity, seagrasses are a vital component but population genetic information is very limited. Here, we reconstructed the phylogeography of the seagrass Thalassia hemprichii in the IAA based on single nucleotide polymorphisms (SNPs) and then characterized the genetic structure based on a panel of 16 microsatellite markers. We further examined the relative importance of historical isolation and contemporary ocean currents in driving the patterns of genetic structure. Results from SNPs revealed three population groups: eastern Indonesia, western Indonesia (Sunda Shelf) and Indian Ocean; while the microsatellites supported five population groups (eastern Indonesia, Sunda Shelf, Lesser Sunda, Western Australia and Indian Ocean). Both SNPs and microsatellites showed asymmetrical gene flow among population groups with a trend of southwestward migration from eastern Indonesia. Genetic diversity was generally higher in eastern Indonesia and decreased southwestward. The pattern of genetic structure and connectivity is attributed partly to the Pleistocene sea level fluctuations modified to a smaller level by contemporary ocean currents.

  20. 'Smoking genes': a genetic association study.

    Directory of Open Access Journals (Sweden)

    Zoraida Verde

    Full Text Available Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A [rs1801272], CYP2A6*9 (-48T>G [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T [rs8192789], CYP2A13*3 (7520C>G, CYP2A13*4 (579G>A, CYP2A13*7 (578C>T [rs72552266], CYP2B6*4 (785A>G, CYP2B6*9 (516G>T, CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126 and ethnically matched never smokers (controls, N = 80. The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A polymorphisms was 3.60 (95%CI: 1.75, 7.44 and 2.63 (95%CI: 1.41, 4.89 respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65. We found a significant genotype effect (all P≤0.017 for the following smoking-related phenotypes: (i cigarettes smoked per day and CYP2A13*3; (ii pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A; (iii nicotine dependence (assessed with the Fagestrom test and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5, serotoninergic (HTR2A, opioid (OPRM1 or cannabinoid receptors (CNR1.

  1. Integrating empirical data and population genetic simulations to study the genetic architecture of type 2 diabetes

    OpenAIRE

    Agarwala, Vineeta

    2013-01-01

    Most common diseases have substantial heritable components but are characterized by complex inheritance patterns implicating numerous genetic and environmental factors. A longstanding goal of human genetics research is to delineate the genetic architecture of these traits - the number, frequencies, and effect sizes of disease-causing alleles - to inform mapping studies, elucidate mechanisms of disease, and guide development of targeted clinical therapies and diagnostics. Although vast empir...

  2. Study on genetic coadaptability of wild quail populations in China

    Institute of Scientific and Technical Information of China (English)

    CHANG; Guobin; CHANG; Hong; LIU; Xiangping; YANG; Zhangping; CHEN; Guohong; ZHAO; Wenming; JI; Dejun; XUE; Yan; HUANG; Feng; HASSAN; Hussein

    2006-01-01

    Genetic coadaptability of wild Japanese quail, wild Common quail and Domestic quail populations in China was studied using 7 microsatellite DNA markers and Monte Carlo method to test genetic disequilibrium. The molecular effects of genetic coadaptability were analyzed through a new statistical model of neutral site. The results showed that genetic coadaptability dominated the genetic disequilibrium of the three quail populations, and totally 16.67%, 9.66% and 10.05% of non-allelic combinations were in the genetic disequilibrium in wild Japanese quail, wild Common quail and Domestic quail populations, respectively. Genetic coadaptability existed at almost all the tested sites. In the molecular point of view, genetic coadaptability plays an important role of keeping lots of polymorphisms in natural populations. Therefore, it is another key factor to the genetic disequilibrium in the population except for linkage. The results enrich the conceptions and connotations of genetic disequilibrium, and help us know more about genetic coadaptability and its effects, and lay a foundation of evaluation and protection of wild quail genetic resources in China.

  3. The Current Canon in British Romantics Studies.

    Science.gov (United States)

    Linkin, Harriet Kramer

    1991-01-01

    Describes and reports on a survey of 164 U.S. universities to ascertain what is taught as the current canon of British Romantic literature. Asserts that the canon may now include Mary Shelley with the former standard six major male Romantic poets, indicating a significant emergence of a feminist perspective on British Romanticism in the classroom.…

  4. International Veterinary Epilepsy Task Force's current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs

    DEFF Research Database (Denmark)

    Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.

    2015-01-01

    of the dog with epilepsy in everyday clinical practice and furthermore may promote canine epilepsy research. The following manuscript reviews the evidence available for breeds which have been identified as being predisposed to idiopathic epilepsy with a proven or suspected genetic background, and highlights...

  5. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  6. AN EMPIRICAL STUDY OF CURRENT RATIO

    Directory of Open Access Journals (Sweden)

    Atanas Delev

    2014-10-01

    Full Text Available This work aims to address problems of liquidity and in particular the values and factors that influenced the values of the coefficient of total liquidity sixty Bulgarian public companies for the period 2013 - 2007 year. In the analysis it was found that some businesses fail to achieve favorable values of the ratio between current assets and current liabilities. It was found that plants have a low level of total liquidity, which can create problems in repayment of short-term liabilities. It can be seen that there are companies with very high liquidity, which is not so good phenomenon, ie the retention of a high level of resources required. Businesses should conduct a thorough analysis and implement appropriate measures to correct adverse changes. The financial management of the companies surveyed had worked towards improving the state of the enterprise, thereby seeking to reduce liquidity risk.

  7. [Current situation and ethical-social issues of pediatric genetic testing].

    Science.gov (United States)

    Yamamoto, Toshiyuki

    2015-11-01

    Many pediatric neurological disorders are caused by genetic factors. Therefore, genetic testing is often required for final diagnosis, prognosis prediction, and genetic counseling. Prior to performing genetic research, pediatric neurologists must obtain the approval of the Institutional Review Board. Moreover, according to the "Ethical Guidelines for Human Genome/Gene Analysis Research," anonymity of patient samples must be maintained. Although the guideline for genetic research are not generally applied for genetic testing in routine bedside medical care, the guideline adopted by the Japan Medical Association must be followed, because genetic information from a personal genome is patient-specific. Pediatric neurologists must also be aware of the policies adopted to obtain informed consent from children and patients who are incapable of making their own decisions. They should develop a strategy for collaboration with clinical geneticists and for making a prenatal diagnosis.

  8. Implications of population structure and ancestry on asthma genetic studies.

    Science.gov (United States)

    Ortega, Victor E; Meyers, Deborah A

    2014-10-01

    The frequency and severity of asthma differ between different racial and ethnic groups. An understanding of the genetic basis for these differences could constitute future genetic biomarker panels for predicting asthma risk and progression in individuals from different ethnic groups. The recent mixing of different ancestries during the European colonization of the Americas and the African slave trade has resulted in the complex population structures identified in different ethnic groups. These population structures represent varying degrees of genetic diversity which impacts the allele frequency of individual variants and, thus, how the gene variation is utilized in genetic association studies. In this review, we will discuss the basis for the complex population structures of modern human genomes and the impact of genetic diversity on genetic studies in different ethnic groups. We will also highlight the potential for admixture and rare variant-based genetic studies to identify novel genetic loci for asthma susceptibility and severity. The ability to account for the consequences of genetic diversity in different racial and ethnic groups will be critical in developing genetic profiles for personalized or precision medicine approaches tailored to asthmatic patients from different ethnic groups.

  9. Solar Cell Parameters Extraction from a Current-Voltage Characteristic Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Sanjaykumar J. Patel

    2013-05-01

    Full Text Available The determination of solar cell parameters is very important for the evaluation of the cell performance as well as to extract maximum possible output power from the cell. In this paper, we propose a computational based binary-coded genetic algorithm (GA to extract the parameters (I0, Iph and n for a single diode model of solar cell from its current-voltage (I-V characteristic. The algorithm was implemented using LabVIEW as a programming tool and validated by applying it to the I-V curve synthesized from the literature using reported values. The values of parameters obtained by GA are in good agreement with those of the reported values for silicon and plastic solar cells. change to “After the validation of the program, it was used to extract parameters for an experimental I-V characteristic of 4 × 4 cm2 polycrystalline silicon solar cell measured under 900 W/m. The I-V characteristic obtained using GA shows excellent match with the experimental one.

  10. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    Science.gov (United States)

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  11. Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations

    Science.gov (United States)

    Ganz, Ariel B.; Cohen, Vanessa V.; Swersky, Camille C.; Stover, Julie; Vitiello, Gerardo A.; Lovesky, Jessica; Chuang, Jasmine C.; Shields, Kelsey; Fomin, Vladislav G.; Lopez, Yusnier S.; Mohan, Sanjay; Ganti, Anita; Carrier, Bradley; Malysheva, Olga V.; Caudill, Marie A.

    2017-01-01

    Single nucleotide polymorphisms (SNPs) in choline metabolizing genes are associated with disease risk and greater susceptibility to organ dysfunction under conditions of dietary choline restriction. However, the underlying metabolic signatures of these variants are not well characterized and it is unknown whether genotypic differences persist at recommended choline intakes. Thus, we sought to determine if common genetic risk factors alter choline dynamics in pregnant, lactating, and non-pregnant women consuming choline intakes meeting and exceeding current recommendations. Women (n = 75) consumed 480 or 930 mg choline/day (22% as a metabolic tracer, choline-d9) for 10–12 weeks in a controlled feeding study. Genotyping was performed for eight variant SNPs and genetic differences in metabolic flux and partitioning of plasma choline metabolites were evaluated using stable isotope methodology. CHKA rs10791957, CHDH rs9001, CHDH rs12676, PEMT rs4646343, PEMT rs7946, FMO3 rs2266782, SLC44A1 rs7873937, and SLC44A1 rs3199966 altered the use of choline as a methyl donor; CHDH rs9001 and BHMT rs3733890 altered the partitioning of dietary choline between betaine and phosphatidylcholine synthesis via the cytidine diphosphate (CDP)-choline pathway; and CHKA rs10791957, CHDH rs12676, PEMT rs4646343, PEMT rs7946 and SLC44A1 rs7873937 altered the distribution of dietary choline between the CDP-choline and phosphatidylethanolamine N-methyltransferase (PEMT) denovo pathway. Such metabolic differences may contribute to disease pathogenesis and prognosis over the long-term. PMID:28134761

  12. Functional-mixed effects models for candidate genetic mapping in imaging genetic studies.

    Science.gov (United States)

    Lin, Ja-An; Zhu, Hongtu; Mihye, Ahn; Sun, Wei; Ibrahim, Joseph G

    2014-12-01

    The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficiently carrying out the candidate gene approaches in imaging genetic studies. FMEM consists of two novel components including a mixed effects model for modeling nonlinear genetic effects on imaging phenotypes by introducing the genetic random effects at each voxel and a jumping surface model for modeling the variance components of the genetic random effects and fixed effects as piecewise smooth functions of the voxels. Moreover, FMEM naturally accommodates the correlation structure of the genetic markers at each voxel, while the jumping surface model explicitly incorporates the intrinsically spatial smoothness of the imaging data. We propose a novel two-stage adaptive smoothing procedure to spatially estimate the piecewise smooth functions, particularly the irregular functional genetic variance components, while preserving their edges among different piecewise-smooth regions. We develop weighted likelihood ratio tests and derive their exact approximations to test the effect of the genetic markers across voxels. Simulation studies show that FMEM significantly outperforms voxel-wise approaches in terms of higher sensitivity and specificity to identify regions of interest for carrying out candidate genetic mapping in imaging genetic studies. Finally, FMEM is used to identify brain regions affected by three candidate genes including CR1, CD2AP, and PICALM, thereby hoping to shed light on the pathological interactions between these candidate genes and brain structure and function.

  13. Increased persistent sodium current determines cortical hyperexcitability in a genetic model of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Pieri, Massimo; Carunchio, Irene; Curcio, Livia; Mercuri, Nicola Biagio; Zona, Cristina

    2009-02-01

    Cortical hyperexcitability has been observed in Amyotrophic Lateral Sclerosis (ALS) patients. Familial ALS accounts for 10% of all cases and mutations of the Cu,Zn superoxide dismutase (SOD1) gene have been identified in about 20% of the familial cases. The aim of this study was to investigate whether in a mouse model of ALS the cortical neurons developed hyperexcitability due to intrinsic properties of the single cell. We first examined the passive membrane properties and the pattern of repetitive firing in cultured cortical neurons from Control mice and transgenic mice expressing high levels of the human mutated protein (Gly(93)-->Ala, G93A). The former did not display significantly differing values between Control and G93A cortical neurons. However, the threshold potential and time of the first action potential decreased significantly and the firing frequency increased significantly in the G93A compared to Control neurons. The analysis of the voltage-dependent sodium currents revealed that the fast transient sodium current was unaffected by the SOD1 mutation whereas the persistent sodium current was significantly higher in the mutated neurons. Finally, Riluzole, a selective blocker of the persistent sodium current at low concentrations, decreased the firing frequency in G93A neurons, strongly indicating an involvement of this current in the observed hyperexcitability. These are the first data that demonstrate an intrinsic hyperexcitability in the G93A cortical neurons due to a higher current density of the persistent sodium current in the mutated neurons and open up new prospects of understanding ALS disease etiopathology.

  14. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases.

    Science.gov (United States)

    Lee, Wen-Chung

    2016-06-09

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use.

  15. Current situation, genetic relationship and control measures of infectious bronchitis virus variants circulating in African regions

    Directory of Open Access Journals (Sweden)

    Khadija Khataby

    2016-08-01

    Three S1 gene hypervariable regions were studied and compared to the reference genotypes/serotypes that found emerging in African regions. This comparison was based on phylogenetic trees, nucleotide and amino-acid sequence analysis. It clearly appears that IBV variants reported in Africa, display a low genetic relationship between them and with the majority of the reference strains emerging in neighboring countries, except the case of variants from Libya and Egypt that show a high relatedness. Also the Massachusetts serotypes were the most prevalent co-circulating with both serotypes, Italy02 type in Morocco and Qx-like genotype in South part of the African continent. In order to control the IBV variants in African regions, an efficient vaccination strategy program should be implemented.

  16. Baboons as a model to study genetics and epigenetics of human disease.

    Science.gov (United States)

    Cox, Laura A; Comuzzie, Anthony G; Havill, Lorena M; Karere, Genesio M; Spradling, Kimberly D; Mahaney, Michael C; Nathanielsz, Peter W; Nicolella, Daniel P; Shade, Robert E; Voruganti, Saroja; VandeBerg, John L

    2013-01-01

    A major challenge for understanding susceptibility to common human diseases is determining genetic and environmental factors that influence mechanisms underlying variation in disease-related traits. The most common diseases afflicting the US population are complex diseases that develop as a result of defects in multiple genetically controlled systems in response to environmental challenges. Unraveling the etiology of these diseases is exceedingly difficult because of the many genetic and environmental factors involved. Studies of complex disease genetics in humans are challenging because it is not possible to control pedigree structure and often not practical to control environmental conditions over an extended period of time. Furthermore, access to tissues relevant to many diseases from healthy individuals is quite limited. The baboon is a well-established research model for the study of a wide array of common complex diseases, including dyslipidemia, hypertension, obesity, and osteoporosis. It is possible to acquire tissues from healthy, genetically characterized baboons that have been exposed to defined environmental stimuli. In this review, we describe the genetic and physiologic similarity of baboons with humans, the ability and usefulness of controlling environment and breeding, and current genetic and genomic resources. We discuss studies on genetics of heart disease, obesity, diabetes, metabolic syndrome, hypertension, osteoporosis, osteoarthritis, and intrauterine growth restriction using the baboon as a model for human disease. We also summarize new studies and resources under development, providing examples of potential translational studies for targeted interventions and therapies for human disease.

  17. Study books on ADHD genetics: balanced or biased?

    Science.gov (United States)

    Te Meerman, Sanne; Batstra, Laura; Hoekstra, Rink; Grietens, Hans

    2017-06-01

    Academic study books are essential assets for disseminating knowledge about ADHD to future healthcare professionals. This study examined if they are balanced with regard to genetics. We selected and analyzed study books (N=43) used in (pre) master's programmes at 10 universities in the Netherlands. Because the mere behaviourally informed quantitative genetics give a much higher effect size of the genetic involvement in ADHD, it is important that study books contrast these findings with molecular genetics' outcomes. The latter studies use real genetic data, and their low effect sizes expose the potential weaknesses of quantitative genetics, like underestimating the involvement of the environment. Only a quarter of books mention both effect sizes and contrast these findings, while another quarter does not discuss any effect size. Most importantly, however, roughly half of the books in our sample mention only the effect sizes from quantitative genetic studies without addressing the low explained variance of molecular genetic studies. This may confuse readers by suggesting that the weakly associated genes support the quite spectacular, but potentially flawed estimates of twin, family and adoption studies, while they actually contradict them.

  18. A "Genetic Study" of the Galaxy

    Science.gov (United States)

    2006-09-01

    Looking in detail at the composition of stars with ESO's VLT, astronomers are providing a fresh look at the history of our home galaxy, the Milky Way. They reveal that the central part of our Galaxy formed not only very quickly but also independently of the rest. "For the first time, we have clearly established a 'genetic difference' between stars in the disc and the bulge of our Galaxy," said Manuela Zoccali, lead author of the paper presenting the results in the journal Astronomy and Astrophysics [1]. "We infer from this that the bulge must have formed more rapidly than the disc, probably in less than a billion years and when the Universe was still very young." ESO PR Photo 34a/06 ESO PR Photo 34a/06 The Field around Baade's Window The Milky Way is a spiral galaxy, having pinwheel-shaped arms of gas, dust, and stars lying in a flattened disc, and extending directly out from a spherical nucleus of stars in the central region. The spherical nucleus is called a bulge, because it bulges out from the disc. While the disc of our Galaxy is made up of stars of all ages, the bulge contains old stars dating from the time the galaxy formed, more than 10 billion years ago. Thus, studying the bulge allows astronomers to know more about how our Galaxy formed. To do this, an international team of astronomers [2] analysed in detail the chemical composition of 50 giant stars in four different areas of the sky towards the Galactic bulge. They made use of the FLAMES/UVES spectrograph on ESO's Very Large Telescope to obtain high-resolution spectra. The chemical composition of stars carries the signature of the enrichment processes undergone by the interstellar matter up to the moment of their formation. It depends on the previous history of star formation and can thus be used to infer whether there is a 'genetic link' between different stellar groups. In particular, comparison between the abundance of oxygen and iron in stars is very illustrative. Oxygen is predominantly produced in

  19. Molecular Genetic Study of Human Esophageal Carcinoma

    Science.gov (United States)

    1991-07-16

    carcinogenic processes ( Doerfler , 1983). Direct evidence has shown that the DNA alkylation product, o’-methyl deoxyguanosine was higher in the DNA...of north China and the genetic approach to its control. Genes and Disease, (Science Press, Beijing, China) 1985. Doerfler , W. DNA methylation and

  20. Forward genetics studies of seed phytic acid

    Science.gov (United States)

    Both the chemical composition and total amount of seed phosphorus (P) are important to the end-use quality of cereal and legume seed crops. The chemistry of seed total P largely revolves around the synthesis and storage of phytic acid (myo-inositol hexaphosphate). Forward genetics research, beginnin...

  1. The Role of the Family in Genetic Testing: Theoretical Perspectives, Current Knowledge, and Future Directions

    Science.gov (United States)

    Peterson, Susan K.

    2005-01-01

    This article addresses conceptual challenges and theoretical approaches for examining the role of the family in responding and adapting to genetic testing for inherited conditions. Using a family systems perspective, family-based constructs that are relevant to genetic testing may be organized into three domains: family communication, organization…

  2. European genetic conservation strategies of forest trees in the context of currently running climate change

    NARCIS (Netherlands)

    Vries, de S.M.G.

    2015-01-01

    The diversity of forests, at the level of species and at the level of genetic diversity within species, is an important resource for Europe. Over the past several decades countries have made efforts to conserve the diversity of tree species and genetic diversity. However, there was no harmonised app

  3. [Applications of reverse genetics in studying classical swine fever virus].

    Science.gov (United States)

    Liu, Dafei; Sun, Yuan; Qiu, Huaji

    2009-10-01

    Classical swine fever (CSF), caused by classical swine fever virus (CSFV), has been epidemic or endemic in many countries, and causes great economical losses to pig industry worldwide. Attenuated vaccines (such as C-strain) have played an important role in the control of CSF. Recently some new phenomena appear, such as atypical and persistent infections of CSF, immunization failure and so on. Meanwhile, eradication programs have been implemented in many countries, restricting the widespread applications of attenuated vaccines. Thus, currently the priority is to strengthen the research in pathogenesis and transmission mechanisms, as well as to develop marker vaccines. Recently, the applications of reverse genetics technology open up a new way for research of structure and function of CSFV proteins and development of novel vaccines against CSF. This review focuses on the progress of applications of reverse genetics in the functional analysis and marker vaccine development of CSFV, and also discusses the problems confronted now and prospective aspects in the study of CSFV.

  4. Cancer genetic association studies in the genome-wide age

    OpenAIRE

    Savage, Sharon A

    2008-01-01

    Genome-wide association studies of hundreds of thousands of SNPs have led to a deluge of studies of genetic variation in cancer and other common diseases. Large case–control and cohort studies have identified novel SNPs as markers of cancer risk. Genome-wide association study SNP data have also advanced understanding of population-specific genetic variation. While studies of risk profiles, combinations of SNPs that may increase cancer risk, are not yet clinically applicable, future, large-sca...

  5. Cryptogenic Polyneuropathy : Clinical, Environmental, And Genetic Studies

    OpenAIRE

    Lindh, Jonas

    2011-01-01

    Objectives: The purpose of this medical thesis was to describe the clinical and neurophysiological features and to evaluate the health related quality of life (HR-QoL) in patients with cryptogenic polyneuropathy. We also wanted to investigate different occupational, and leisure time exposures as determinants for cryptogenic polyneuropathy, and to analyze whether polymorphisms for the null alleles of Glutathione S-Transferase Mu-1 (GSTM1), and Theta-1 (GSTT1), and a low activity genetic variat...

  6. Current Research on Chinese Students Studying Abroad

    Science.gov (United States)

    Henze, Jurgen; Zhu, Jiani

    2012-01-01

    As a result of China's growing participation and importance in the process of internationalization and globalization a continuously rising number of Chinese students has gone abroad for further study. By the end of the last decade the number of Chinese students abroad made up the largest group of international students in the USA (surpassing those…

  7. Current Research on Chinese Students Studying Abroad

    Science.gov (United States)

    Henze, Jurgen; Zhu, Jiani

    2012-01-01

    As a result of China's growing participation and importance in the process of internationalization and globalization a continuously rising number of Chinese students has gone abroad for further study. By the end of the last decade the number of Chinese students abroad made up the largest group of international students in the USA (surpassing those…

  8. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

  9. Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.

    Science.gov (United States)

    Gemenetzi, M; Yang, Y; Lotery, A J

    2012-03-01

    Glaucoma is a common, complex, heterogenous disease and it constitutes the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG) is the most common type of glaucoma in all populations. Most of the molecular mechanisms leading to POAG development are still unknown. Gene mutations in various populations have been identified by genetic studies and a genetic basis for glaucoma pathogenesis has been established. Linkage analysis and association studies are genetic approaches in the investigation of the genetic basis of POAG. Genome-wide association studies (GWAS) are more powerful compared with linkage analysis in discovering genes of small effect that might contribute to the development of the disease. POAG links to at least 20 genetic loci, but only 2 genes identified in these loci, myocilin and optineurin, are considered as well-established glaucoma-causing genes, whereas the role of other loci, genes, and variants implicated in the development of POAG remains controversial. Gene mutations associated with POAG result in retinal ganglion cell death, which is the common outcome of pathogenetic mechanisms in glaucoma. In future, if the sensitivity and specificity of genotyping increases, it may be possible to screen individuals routinely for disease susceptibility. This review is an update on the latest progress of genetic studies associated with POAG. It emphasizes the correlation of recent achievements in genetics with glaucoma pathophysiology, glaucoma treatment perspectives, and the possibility of future prevention of irreversible visual loss caused by the disease.

  10. Genetic studies of freshwater turtle and tortoises: a review of the past 70 years

    Science.gov (United States)

    FitzSimmons, Nancy N.; Hart, Kristen M.

    2007-01-01

    Powerful molecular techniques have been developed over many decades for resolving genetic relationships, population genetic structure, patterns of gene flow, mating systems, and the amount of genetic diversity in animals. Genetic studies of turtles were among the earliest and the rapid application of new genetic tools and analytical techniques is still apparent in the literature on turtles. At present, of the 198 freshwater turtles and tortoises that are listed as not extinct by the IUCN Red List, 69 species worldwide are listed as endangered or critically endangered, and an additional 56 species are listed as vulnerable. Of the ca. 300 species of the freshwater turtles and tortoises in the world, ca. 42% are considered to be facing a high risk extinction, and there is a need to focus intense conservation attention on these species. This includes a need to (i) assess our current state of knowledge regarding the application of genetics to studies of freshwater turtles and tortoises and (ii) determine future research directions. Here, we review all available published studies for the past 70 years that were written in English and used genetic markers (e.g. karyotypes, allozymes, DNA loci) to better understand the biology of freshwater turtles and tortoises. We review the types of studies conducted in relation to the species studied and quantify the countries where the studies were performed. We rack the changing use of different genetic markers through time and report on studies focused on aspects of molecular evolution within turtle genomes. We address the usefulness of particular genetic markers to answer phylogenetic questions and present data comparing population genetic structure and mating systems across species. We draw specific attention to whether authors have considered issues to turtle conservation in their research or provided new insights that have been translated into recommendations for conservation management.

  11. Current studies on myofascial pain syndrome.

    Science.gov (United States)

    Kuan, Ta-Shen

    2009-10-01

    Recent studies have clarified the nature of myofascial trigger points (MTrPs). In an MTrP region, multiple hyperirritable loci can be found. The sensory components of the MTrP locus are sensitized nociceptors that are responsible for pain, referred pain, and local twitch responses. The motor components are dysfunctional endplates that are responsible for taut band formation as a result of excessive acetylcholine (ACh) leakage. The concentrations of pain- and inflammation-related substances are increased in the MTrP region. It has been hypothesized that excessive ACh release, sarcomere shortening, and release of sensitizing substances are three essential features that relate to one another in a positive feedback cycle. This MTrP circuit is the connection among spinal sensory (dorsal horn) neurons responsible for the MTrP phenomena. Recent studies suggest that measurement of biochemicals associated with pain and inflammation in the MTrP region, the sonographic study of MTrPs, and the magnetic resonance elastography for taut band image are potential tools for the diagnosis of MTrPs. Many methods have been used to treat myofascial pain, including laser therapy, shockwave therapy, and botulinum toxin type A injection.

  12. Tobin Tax: Arguments and Current Derivative Studies

    Directory of Open Access Journals (Sweden)

    Ozekicioglu Seda

    2015-04-01

    Full Text Available Tobin Tax and its derivative applications have started to be discussed again in many platforms as the issue regarding taxation of short-term capital movements has become an agenda among international communities such as European Union (EU and G20 since the beginning of 2000s. In this study, Tobin Tax, which is the first significant step towards taxation of foreign currency transactions, has been discussed theoretically and considering its possible effects on application. Also, in this context, the initiatives of countries such as USA, Belgium, France and Austria regarding international implementation of Tobin Tax and its derivatives are being evaluated. The intended use of the taxes, determination of transactions exempt from tax and international cooperation in the implementation of taxation are possible problems that can be faced regarding Tobin Tax. In this study the conclusion, which the effects of Tobin Tax in developing and developed countries will be different but imposing such tax regarding cyclic balance of the world economy will be a positive improvement, has been reached.

  13. Ocular biomechanics study: current state and perspectives

    Directory of Open Access Journals (Sweden)

    S. Yu. Petrov

    2015-03-01

    Full Text Available Despite the fact that the eye represents a challenge for biomechanical research due to its size, over the last two decades, much data on ocular biomechanics were accumulated. Scleral and lamina cribrosa biomechanics contribute to our understanding of myopia and open-angle glaucoma; iris and trabecular meshwork biomechanics to that of angle-closure glaucoma; vitreous biomechanics to that of retinal detachment and ocular drug delivery; corneal biomechanics to that of keratoconus; and lens capsule biomechanics to that of cataract. This paper offers a general overview of recent advances in corneal, scleral, crystalline lens, and lamina cribrosa biomechanics and summarizes the results of experimental and clinical studies. Ocular biomechanics abnormalities affect etiology of many eye diseases. Ocular biomechanics plays an important role in the development of novel diagnostic methods, therapeutic and surgical procedures. Corneal biomechanics impacts etiology and pathogenesis of keratoconus as well as tonometry accuracy and explains corneal refractive surgery effect. Scleral biomechanics is associated with IOP and progressive myopia. Accommodative apparatus (ciliary body and crystalline lens is an important anatomic physiological structure. Recent studies uncovered the causes of agerelated loss of accommodation as a result of lens involution. Optic nerve head abnormalities due to IOP fluctuations are the key factor of glaucomatous neuropathy. They are directly associated with ocular biomechanics as well.

  14. Ocular biomechanics study: current state and perspectives

    Directory of Open Access Journals (Sweden)

    S. Yu. Petrov

    2015-01-01

    Full Text Available Despite the fact that the eye represents a challenge for biomechanical research due to its size, over the last two decades, much data on ocular biomechanics were accumulated. Scleral and lamina cribrosa biomechanics contribute to our understanding of myopia and open-angle glaucoma; iris and trabecular meshwork biomechanics to that of angle-closure glaucoma; vitreous biomechanics to that of retinal detachment and ocular drug delivery; corneal biomechanics to that of keratoconus; and lens capsule biomechanics to that of cataract. This paper offers a general overview of recent advances in corneal, scleral, crystalline lens, and lamina cribrosa biomechanics and summarizes the results of experimental and clinical studies. Ocular biomechanics abnormalities affect etiology of many eye diseases. Ocular biomechanics plays an important role in the development of novel diagnostic methods, therapeutic and surgical procedures. Corneal biomechanics impacts etiology and pathogenesis of keratoconus as well as tonometry accuracy and explains corneal refractive surgery effect. Scleral biomechanics is associated with IOP and progressive myopia. Accommodative apparatus (ciliary body and crystalline lens is an important anatomic physiological structure. Recent studies uncovered the causes of agerelated loss of accommodation as a result of lens involution. Optic nerve head abnormalities due to IOP fluctuations are the key factor of glaucomatous neuropathy. They are directly associated with ocular biomechanics as well.

  15. Study of high current commutation by explosive switch

    Science.gov (United States)

    Usuba, S.; Kakudate, Y.; Yoshida, M.; Fujiwara, S.; Miyamoto, M.; Morita, T.; Kubota, A.; den, M.

    1993-01-01

    The study presents the basic experimental data obtained with a large current opening switch for current commutation using explosives. It is shown that currents up to a maximum of 40 kA can be completely interrupted within 30 microsec. The mechanism of current interruption using a thin conductor plate and methods of measuring interrupting current with a pickup coil and taking photographs with a high-speed camera (one frame per microsec) are discussed.

  16. Population genetic structure of eelgrass (Zostera marina) on the Korean coast: Current status and conservation implications for future management.

    Science.gov (United States)

    Kim, Jae Hwan; Kang, Ji Hyoun; Jang, Ji Eun; Choi, Sun Kyeong; Kim, Min Ji; Park, Sang Rul; Lee, Hyuk Je

    2017-01-01

    Seagrasses provide numerous ecosystem services for coastal and estuarine environments, such as nursery functions, erosion protection, pollution filtration, and carbon sequestration. Zostera marina (common name "eelgrass") is one of the seagrass bed-forming species distributed widely in the northern hemisphere, including the Korean Peninsula. Recently, however, there has been a drastic decline in the population size of Z. marina worldwide, including Korea. We examined the current population genetic status of this species on the southern coast of Korea by estimating the levels of genetic diversity and genetic structure of 10 geographic populations using eight nuclear microsatellite markers. The level of genetic diversity was found to be significantly lower for populations on Jeju Island [mean allelic richness (AR) = 1.92, clonal diversity (R) = 0.51], which is located approximately 155 km off the southernmost region of the Korean Peninsula, than for those in the South Sea (mean AR = 2.69, R = 0.82), which is on the southern coast of the mainland. South Korean eelgrass populations were substantially genetically divergent from one another (FST = 0.061-0.573), suggesting that limited contemporary gene flow has been taking place among populations. We also found weak but detectable temporal variation in genetic structure within a site over 10 years. In additional depth comparisons, statistically significant genetic differentiation was observed between shallow (or middle) and deep zones in two of three sites tested. Depleted genetic diversity, small effective population sizes (Ne) and limited connectivity for populations on Jeju Island indicate that these populations may be vulnerable to local extinction under changing environmental conditions, especially given that Jeju Island is one of the fastest warming regions around the world. Overall, our work will inform conservation and restoration efforts, including transplantation for eelgrass populations at the southern tip of

  17. Population genetic structure of eelgrass (Zostera marina) on the Korean coast: Current status and conservation implications for future management

    Science.gov (United States)

    Kim, Jae Hwan; Kang, Ji Hyoun; Jang, Ji Eun; Choi, Sun Kyeong; Kim, Min Ji; Park, Sang Rul; Lee, Hyuk Je

    2017-01-01

    Seagrasses provide numerous ecosystem services for coastal and estuarine environments, such as nursery functions, erosion protection, pollution filtration, and carbon sequestration. Zostera marina (common name “eelgrass”) is one of the seagrass bed-forming species distributed widely in the northern hemisphere, including the Korean Peninsula. Recently, however, there has been a drastic decline in the population size of Z. marina worldwide, including Korea. We examined the current population genetic status of this species on the southern coast of Korea by estimating the levels of genetic diversity and genetic structure of 10 geographic populations using eight nuclear microsatellite markers. The level of genetic diversity was found to be significantly lower for populations on Jeju Island [mean allelic richness (AR) = 1.92, clonal diversity (R) = 0.51], which is located approximately 155 km off the southernmost region of the Korean Peninsula, than for those in the South Sea (mean AR = 2.69, R = 0.82), which is on the southern coast of the mainland. South Korean eelgrass populations were substantially genetically divergent from one another (FST = 0.061–0.573), suggesting that limited contemporary gene flow has been taking place among populations. We also found weak but detectable temporal variation in genetic structure within a site over 10 years. In additional depth comparisons, statistically significant genetic differentiation was observed between shallow (or middle) and deep zones in two of three sites tested. Depleted genetic diversity, small effective population sizes (Ne) and limited connectivity for populations on Jeju Island indicate that these populations may be vulnerable to local extinction under changing environmental conditions, especially given that Jeju Island is one of the fastest warming regions around the world. Overall, our work will inform conservation and restoration efforts, including transplantation for eelgrass populations at the southern

  18. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

    DEFF Research Database (Denmark)

    Vergote, Ignace; Banerjee, Susana; Gerdes, Anne-Marie

    2016-01-01

    Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family...... of the existing data and guidelines in the European Union, relating to recommendations, as well as considerations, for the referral of OC patients for BRCA genetic testing. Based on this review of newly updated guidance and up-to-date evidence, the following is recommended: all patients with invasive epithelial...... OC (excluding borderline or mucinous), including those with fallopian tube and peritoneal cancers, should be considered as candidates for referral for BRCA genetic testing, irrespective of age; genetic testing should ideally be offered at diagnosis, although patients can be referred at any stage...

  19. Current issues connected with usage of genetically modified crops in production of feed and livestock feeding.

    Science.gov (United States)

    Kwiatek, K; Mazur, M; Sieradzki, Z

    2008-01-01

    Progress, which is brought by new advances in modern molecular biology, allowed interference in the genome of live organisms and gene manipulation. Introducing new genes to the recipient organism enables to give them new features, absent before. Continuous increase in the area of the biotech crops triggers continuous discussion about safety of genetically modified (GM) crops, including food and feed derived from them. Important issue connected with cultivation of genetically modified crops is a horizontal gene transfer and a bacterial antibiotic resistance. Discussion about safety of GM crops concerns also food allergies caused by eating genetically modified food. The problem of genetic modifications of GM crops used for livestock feeding is widely discussed, taking into account Polish feed law.

  20. Genetic and physiological bases for phenological responses to current and predicted climates

    OpenAIRE

    Wilczek, A. M.; Burghardt, L. T.; Cobb, A. R.; Cooper, M D; Welch, S. M.; Schmitt, J

    2010-01-01

    We are now reaching the stage at which specific genetic factors with known physiological effects can be tied directly and quantitatively to variation in phenology. With such a mechanistic understanding, scientists can better predict phenological responses to novel seasonal climates. Using the widespread model species Arabidopsis thaliana, we explore how variation in different genetic pathways can be linked to phenology and life-history variation across geographical regions and seasons. We sho...

  1. Genetics of Common Polygenic Ischaemic Stroke: Current Understanding and Future Challenges

    OpenAIRE

    Bevan, S.; Markus, HS

    2011-01-01

    Stroke is the third commonest cause of death and the major cause of adult neurological disability worldwide. While much is known about conventional risk factors such as hypertension, diabetes and incidence of smoking, these environmental factors only account for a proportion of stroke risk. Up to 50% of stroke risk can be attributed to genetic risk factors, although to date no single risk allele has been convincingly identified as contributing to this risk. Advances in the field of genetics, ...

  2. Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

    Directory of Open Access Journals (Sweden)

    Yong-Lin Foo

    2015-08-01

    Full Text Available This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.

  3. Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

    Science.gov (United States)

    Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean

    2015-08-01

    This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.

  4. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  5. A genetic study of male sexual orientation.

    Science.gov (United States)

    Bailey, J M; Pillard, R C

    1991-12-01

    Homosexual male probands with monozygotic cotwins, dizygotic cotwins, or adoptive brothers were recruited using homophile publications. Sexual orientation of relatives was assessed either by asking relatives directly, or when this was impossible, asking the probands. Of the relatives whose sexual orientation could be rated, 52% (29/56) of monozygotic cotwins, 22% (12/54) of dizygotic cotwins, and 11% (6/57) of adoptive brothers were homosexual. Heritabilities were substantial under a wide range of assumptions about the population base rate of homosexuality and ascertainment bias. However, the rate of homosexuality among nontwin biological siblings, as reported by probands, 9.2% (13/142), was significantly lower than would be predicted by a simple genetic hypothesis and other published reports. A proband's self-reported history of childhood gender non-conformity did not predict homosexuality in relatives in any of the three subsamples. Thus, childhood gender nonconformity does not appear to be an indicator of genetic loading for homosexuality. Cotwins from concordant monozygotic pairs were very similar for childhood gender nonconformity.

  6. ABCB1 genetic variants in leukemias: current insights into treatment outcomes

    Directory of Open Access Journals (Sweden)

    Ankathil R

    2017-05-01

    Full Text Available Ravindran Ankathil Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia Abstract: Despite improvements in treatment of different types of leukemia, not all patients respond optimally for a particular treatment. Some treatments will work better for some, while being harmful or ineffective for others. This is due to genetic variation in the form of single-nucleotide polymorphisms (SNPs that affect gene expression or function and cause inherited interindividual differences in the metabolism and disposition of drugs. Drug transporters are one of the determinants governing the pharmacokinetic profile of chemotherapeutic drugs. The ABCB1 transporter gene transports a wide range of drugs, including drugs used in leukemia treatment. Polymorphisms in the ABCB1 gene do affect intrinsic resistance and pharmacokinetics of several drugs used in leukemia treatment protocols and thereby affect the efficacy of treatment and event-free survival. This review focuses on the impact of three commonly occurring SNPs (1236C>T, 2677G>T/A, and 3435C>T of ABCB1 on treatment response of various types of leukemia. From the literature available, some of the genotypes and haplotypes of these SNPs have been found to be potential determinants of interindividual variability in drug disposition and pharmacologic response in different types of leukemia. However, due to inconsistencies in the results observed across the studies, additional studies, considering novel genomic methodologies, comprehensive definition of clinical phenotypes, adequate sample size, and uniformity in all the confounding factors, are warranted. Keywords: leukemia, ABCB1 polymorphisms, chemotherapy response, survival

  7. Current evidence for a modulation of low back pain by human genetic variants.

    Science.gov (United States)

    Tegeder, Irmgard; Lötsch, Jörn

    2009-08-01

    The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration or the immune response and genes involved in pain perception, signalling and psychological processing. This inter-individual variability which is partly due to genetic differences would require an individualized pain management to prevent the transition from acute to chronic back pain or improve the outcome. The genetic profile may help to define patients at high risk for chronic pain. We summarize genetic factors that (i) impact on intervertebral disc stability, namely Collagen IX, COL9A3, COL11A1, COL11A2, COL1A1, aggrecan (AGAN), cartilage intermediate layer protein, vitamin D receptor, metalloproteinsase-3 (MMP3), MMP9, and thrombospondin-2, (ii) modify inflammation, namely interleukin-1 (IL-1) locus genes and IL-6 and (iii) and pain signalling namely guanine triphosphate (GTP) cyclohydrolase 1, catechol-O-methyltransferase, mu opioid receptor (OPMR1), melanocortin 1 receptor (MC1R), transient receptor potential channel A1 and fatty acid amide hydrolase and analgesic drug metabolism (cytochrome P450 [CYP]2D6, CYP2C9).

  8. Class - III malocclusion: Genetics or environment? A twins study

    Directory of Open Access Journals (Sweden)

    Jena A

    2005-03-01

    Full Text Available Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The purpose of this study of monozygotic twins is to assess the genetic and environmental components of variation within the cranio-dento-facial complex.

  9. [A study on origin of genetic ethics problem and countermeasure].

    Science.gov (United States)

    Cheng, Yan-Ping

    2008-03-01

    The genetic ethical problem is one of problems which are the most disputable or difficult to resolve perfectly in the fields of life science. In these years the research for the problems is being concentrated on the types of genetic ethical problem and the ways to resolve them. But the systematic research for origin of genetic ethical problem is rare to be known. Thus it seems to be short of theoretical support to bring forward corresponding countermeasure. In this paper we focus on the evolving germ of genetic ethical problem and its evolving rule from the twofold views of human biological evolution and cultural evolution. A human being is a double offspring with biological evolution and cultural evolution . And he is a species which has both biological and cultural attribute on the earth. Through comparing and studying human biological evolution , cultural evolution, and characteristics of both biological attribute and cultural attribute, we bring forward a viewpoint that all ethical problems originate from a conflict originating from interplay of human biological evolution and cultural evolution. We intend to seek for the gist of theory and practice in order to research for genetic ethical problem and put forward some corresponding countermeasures. At the same time we'll advance a series of corresponding countermeasures of genetic ethical problem. The final aim in the paper is that not only some of our opinions will be admitted, but also through learning and understanding genetic ethical problem and its origin, the decision-makers and investigators in genetics field will be promoted to have more sense of fate and responsibility , so that the average public are able to misunderstand less and understand more for studying and genetics applying. We all work hard for genetics career to make it in healthy and continuing development and give a lot of happiness to human beings.

  10. Genetic Risks and ADHD Symptomatology: Exploring the Effects of Parental Antisocial Behaviors in an Adoption-Based Study

    Science.gov (United States)

    Beaver, Kevin M.; Nedelec, Joseph L.; Rowland, Meghan W.; Schwartz, Joseph A.

    2012-01-01

    A great deal of research has examined the etiology of attention-deficit/hyperactivity disorder (ADHD) and ADHD symptomatologies. Genetic factors are consistently shown to explain a significant proportion of variance in measures of ADHD. The current study adds to this body of research by examining whether genetic liabilities for criminality and…

  11. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  12. Current status of genetics and genomics of reared penaeid shrimp: information relevant to access and benefit sharing.

    Science.gov (United States)

    Andriantahina, Farafidy; Liu, Xiaolin; Feng, Tingting; Xiang, Jianhai

    2013-08-01

    At present, research and progress in shrimp genomics and genetics show significant developments. Shrimp genetics and genomics also show immense potential for an increased production in a way that meets shrimp culture progress goals for the third millennium. This review article aims to provide an overview of its current status and future direction, discusses questions that need focused research to address them, and summarizes areas where genetics and genomics knowledge can make a positive difference to shrimp culture sustainability. Sustainable progress of penaeid shrimps will depend upon feasible solutions for environmental, research, economic, consumer problems, proper development, and planning policy enforcement. It is recommended that increased funding for biotechnology research and progress be directed to expand worldwide commercial shrimp culture and address environmental and public health issues. For any researcher or shrimp company member who has attempted to or whom would like to thoroughly search the literature to gain a complete understanding of the current state of shrimp genetics and genomics, this publication will be an invaluable source of reference materials, some of which is reported here for the first time.

  13. Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption.

    Science.gov (United States)

    Widmer, Chaney; Deshazo, Jonathan P; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2013-06-01

    Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors' perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Additionally, after being shown a series of screen shots of a newly developed PHR-based family history tool based on the U.S. Surgeon General's My Family Health Portrait (United States Department of Health and Human Services 2009), participants were surveyed about the perceived usefulness, ease of use, and impact on current workflow that this kind of tool would have in their practices. Eighty-three percent reported that their institution has an EMR, yet only 35 % have a dedicated space for family history. Eighty-two percent reported that less than 5 % of their patients have a PHR, and only 16 % have worked with patients who have a PHR. Seventy-two percent or more agreed that a PHR-based family history tool would facilitate communication, increase accuracy of information, ensure consistency in recording information, increase focus on actual counseling, reduce repetitive questions, improve efficiency, and increase the legibility and clarity. Our findings suggest that participants were familiar with existing EFH tools, but that the majority did not use them in practice. Genetic counselors' adoption of such tools is limited due to non-existence of this kind of technology or inability to integrate it into their clinics. They are also strongly in favor of adopting a PHR-based family history tool in genetics clinics, but have practical concerns that must be addressed before the tool can be implemented.

  14. The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

    Directory of Open Access Journals (Sweden)

    Benjamin John Landis

    2016-07-01

    Full Text Available Human cardiovascular malformations (CVMs frequently have a genetic contribution. Through the application of novel technologies such as next generation sequencing, DNA sequence variants associated with CVMs are being identified at a rapid pace. While clinicians are now able to offer testing with next generation sequencing gene panels or whole exome sequencing to any patient with a CVM, the interpretation of genetic variation remains problematic. Variable phenotypic expression, reduced penetrance, inconsistent phenotyping methods, and the lack of high throughput functional testing of variants, contribute to these challenges. This article elaborates critical issues that impact the decision to broadly implement clinical molecular genetic testing in CVMs. Major benefits of testing include establishing a genetic diagnosis, facilitating cost-effective screening of family members who may have subclinical disease, predicting recurrence risk in offspring, enabling early diagnosis and anticipatory management of CV and non-CV disease phenotypes, predicting long term outcomes, and facilitating the development of novel therapies aimed at disease improvement or prevention. Limitations include financial cost, psychosocial cost, and ambiguity of interpretation of results. Multiplex families and patients with syndromic features are two groups where disease causation could potentially be firmly established. However, these account for the minority of the overall CVM population, and there is increasing recognition that genotypes previously associated with syndromes also exist in patients who lack non-CV findings. In all circumstances, ongoing dialogue between cardiologists and clinical geneticists will be needed to accurately interpret genetic testing and improve these patients’ health. This may be most effectively implemented by the creation and support of CV genetics services at centers committed to pursuing testing for patients.

  15. [The application of genetic risk score in genetic studies of complex human diseases].

    Science.gov (United States)

    Dayan, Niu; Weili, Yan

    2015-12-01

    Complex diseases such as cardiovascular disease, type 2 diabetes, essential hypertension, asthma, obesity and cancer have spread across the globe and become the predominant cause of death. There are growing concerns over the role of genetic susceptibility in pathogenesis of complex diseases. However, the related susceptibility genes and sequence variations are still unknown. To elucidate the genetic basis of complex diseases, researchers have identified a large number of genetic variants associated with complex diseases through genome-wide association studies (GWAS) and candidate gene studies recently. The identification of these causal and/or associated variants promotes the development of approaches for complex diseases prediction and prevention. Genetic risk score (GRS), an emerging method for exploring correlation between single nucleotide polymorphisms (SNPs) and clinical phenotypes of complex diseases, integrates weak effects of multiple SNPs and dramatically enhances predictability of complex diseases by gene polymorphisms. This method has been applied successfully in genetic studies of many complex diseases. Here we focus on the introduction of the computational methods and evaluation criteria of GRS, enumerate a series of achievements through GRS application, discuss some limitations during application, and finally prospect the future of GRS.

  16. The Current Status of Germplum Database: a Tool for Characterization of Plum Genetic Resources in Romania

    Directory of Open Access Journals (Sweden)

    Monica Harta

    2016-11-01

    Full Text Available In Romania, Prunus genetic resources are kept in collections of varieties, populations and biotypes, mainly located in research and development institutes or fruit growing stations and, in the last years, by some private enterprises. Creating the experimental model for the Germplum database based on phenotypic descriptors and SSR molecular markers analysis is an important and topical objective for the efficient characterization of genetic resources and also for establishing a public-private partnership for the effective management of plum germplasm resources in Romania. The technical development of the Germplum database was completed and data will be added continuously after characterizing each new accession.

  17. The regional species richness and genetic diversity of Arctic vegetation reflect both past glaciations and current climate

    DEFF Research Database (Denmark)

    Stewart, L.; Alsos, Inger G.; Bay, Christian

    2016-01-01

    species richness of the vascular plant flora of 21 floristic provinces and examined local species richness in 6215 vegetation plots distributed across the Arctic. We assessed levels of genetic diversity inferred from amplified fragment length polymorphism variation across populations of 23 common Arctic......, it will most probably also exhibit lags in response to current and future climate change. Our results also suggest that local species richness at the plot scale is more determined by local habitat factors...

  18. Optimization Of Pulsed Current Parameters To Minimize Pitting Corrosion İn Pulsed Current Micro Plasma Arc Welded Aısı 304l Sheets Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Kondapalli Siva Prasad

    2013-06-01

    Full Text Available Austenitic stainless steel sheets have gathered wide acceptance in the fabrication of components, which require high temperature resistance and corrosion resistance, such as metal bellows used in expansion joints in aircraft, aerospace and petroleum industry. In case of single pass welding of thinner sections of this alloy, Pulsed Current Micro Plasma Arc Welding (PCMPAW was found beneficial due to its advantages over the conventional continuous current process. This paper highlights the development of empirical mathematical equations using multiple regression analysis, correlating various process parameters to pitting corrosion rates in PCMPAW of AISI 304L sheets in 1 Normal HCl. The experiments were conducted based on a five factor, five level central composite rotatable design matrix. A Genetic Algorithm (GA was developed to optimize the process parameters for minimizing the pitting corrosion rates.

  19. Genetic association studies in lumbar disc degeneration: a systematic review.

    Directory of Open Access Journals (Sweden)

    Pasi J Eskola

    Full Text Available OBJECTIVE: Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI in humans. METHODS: A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990-2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines. RESULTS: Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat, COL11A1 (rs1676486, GDF5 (rs143383, SKT (rs16924573, THBS2 (rs9406328 and MMP9 (rs17576. CONCLUSIONS: Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration.

  20. Genetic Testing for Complex Diseases: a Simulation Study Perspective

    CERN Document Server

    Vinh, Nguyen Xuan

    2011-01-01

    It is widely recognized nowadays that complex diseases are caused by, amongst the others, multiple genetic factors. The recent advent of genome-wide association study (GWA) has triggered a wave of research aimed at discovering genetic factors underlying common complex diseases. While the number of reported susceptible genetic variants is increasing steadily, the application of such findings into diseases prognosis for the general population is still unclear, and there are doubts about whether the size of the contribution by such factors is significant. In this respect, some recent simulation-based studies have shed more light to the prospect of genetic tests. In this report, we discuss several aspects of simulation-based studies: their parameters, their assumptions, and the information they provide.

  1. Multiple comparisons in genetic association studies: a hierarchical modeling approach.

    Science.gov (United States)

    Yi, Nengjun; Xu, Shizhong; Lou, Xiang-Yang; Mallick, Himel

    2014-02-01

    Multiple comparisons or multiple testing has been viewed as a thorny issue in genetic association studies aiming to detect disease-associated genetic variants from a large number of genotyped variants. We alleviate the problem of multiple comparisons by proposing a hierarchical modeling approach that is fundamentally different from the existing methods. The proposed hierarchical models simultaneously fit as many variables as possible and shrink unimportant effects towards zero. Thus, the hierarchical models yield more efficient estimates of parameters than the traditional methods that analyze genetic variants separately, and also coherently address the multiple comparisons problem due to largely reducing the effective number of genetic effects and the number of statistically "significant" effects. We develop a method for computing the effective number of genetic effects in hierarchical generalized linear models, and propose a new adjustment for multiple comparisons, the hierarchical Bonferroni correction, based on the effective number of genetic effects. Our approach not only increases the power to detect disease-associated variants but also controls the Type I error. We illustrate and evaluate our method with real and simulated data sets from genetic association studies. The method has been implemented in our freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/).

  2. Genetically Programming Interfaces between Active Materials, Conductive Pathway and Current Collector in Li Ion Batteries

    Science.gov (United States)

    2012-01-01

    assembled into coin cell with metallic lithium as counter electrode. Electrochemical characterization was conducted by galvanostatically cycling the half...encodes either A1, A2, S7, T7 or H7. These DNAs were then introduced into bacteria cells for amplification. Genetic sequencing performed on the

  3. The current and future use of ridge regression for prediction in quantitative genetics

    NARCIS (Netherlands)

    R. de Vlaming (Ronald); P.J.F. Groenen (Patrick)

    2015-01-01

    textabstractIn recent years, there has been a considerable amount of research on the use of regularization methods for inference and prediction in quantitative genetics. Such research mostly focuses on selection of markers and shrinkage of their effects. In this review paper, the use of ridge

  4. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.

    Science.gov (United States)

    Vergote, Ignace; Banerjee, Susana; Gerdes, Anne-Marie; van Asperen, Christi; Marth, Christian; Vaz, Fatima; Ray-Coquard, Isabelle; Stoppa-Lyonnet, Dominique; Gonzalez-Martin, Antonio; Sehouli, Jalid; Colombo, Nicoletta

    2016-12-01

    Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients. Provided here is a review of the existing data and guidelines in the European Union, relating to recommendations, as well as considerations, for the referral of OC patients for BRCA genetic testing. Based on this review of newly updated guidance and up-to-date evidence, the following is recommended: all patients with invasive epithelial OC (excluding borderline or mucinous), including those with fallopian tube and peritoneal cancers, should be considered as candidates for referral for BRCA genetic testing, irrespective of age; genetic testing should ideally be offered at diagnosis, although patients can be referred at any stage; retrospective testing should be offered to patients in long-term follow-up because of the implications for family members and individual future breast cancer risk; and germline BRCA testing of a blood/saliva sample should initially be conducted and, if negative, tumour tissue should be tested (to identify non-germline [somatic] BRCA PARPi therapy candidates).

  5. GENETIC STUDY OF HUMAN CELLS IN VITRO

    Science.gov (United States)

    Chang, R. Shihman

    1960-01-01

    The isolation of carbohydrate variants from cultures of HeLa and conjunctival cells was described. Factors inherent in the cell culture system, such as parent populations and dialyzed serums, have been shown to influence the outcome of variant isolations. Established stable variants incorporated significantly more pentoses or lactate into various cell fractions than the parent cultures. Besides their abilities to propagate continuously in the selecting environments, the variants multiplied slower, were more susceptible to sub-zero preservation and the cytotoxic effect of D-2-deoxyglucose, showed lower cloning efficiencies and were less susceptible to the deleterious effect of glucose oxidase. The ribose variants also differed from the parent cultures in morphological appearance such as formation of multinucleated cells and ring-shaped colonies. They converted more ribose into other component sugars of mucopolysaccharides than the parent cultures. Preliminary analyses of the mucopolysaccharides extracted from the ribose variants and parent cultures showed large difference in their carbohydrate (Molisch-positive materials) and DNA ratios. Evidence suggests that a sequence of interrelated events from genetic selection to primitive morphogenesis has been established. PMID:13692337

  6. Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

    Science.gov (United States)

    Capocasa, Marco; Battaggia, Cinzia; Anagnostou, Paolo; Montinaro, Francesco; Boschi, Ilaria; Ferri, Gianmarco; Alù, Milena; Coia, Valentina; Crivellaro, Federica; Bisol, Giovanni Destro

    2013-01-01

    The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a Bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four “linguistic islands” of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations. PMID:23418562

  7. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    exposures as well as genetic differences between individuals, resulting in differentiated susceptibility to environmental exposures. The evidence for genetic influence on anthropometry has previously been established and has been estimated to be 60-70% based on twin studies. These inter...... mass, but only limited evidence for associations between habitual dietary intake and anthropometry exists. Differences in habitual dietary intake are also partly determined by differences in genes influencing smell and taste preferences. But, so far, only few studies have investigated genetic...... influences on dietary intake in adults and the interplay between diet, genes and obesity. The focus of the thesis was to investigate the genetic and environmental influence on habitual diet and obesity as well as the association between habitual diet and anthropometry. The thesis is based on structural...

  8. The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

    Science.gov (United States)

    Hoyle, J Chad; Isfort, Michael C; Roggenbuck, Jennifer; Arnold, W David

    2015-01-01

    Charcot–Marie–Tooth (CMT) disease is the most common hereditary polyneuropathy and is classically associated with an insidious onset of distal predominant motor and sensory loss, muscle wasting, and pes cavus. Other forms of hereditary neuropathy, including sensory predominant or motor predominant forms, are sometimes included in the general classification of CMT, but for the purpose of this review, we will focus primarily on the forms associated with both sensory and motor deficits. CMT has a great deal of genetic heterogeneity, leading to diagnostic considerations that are still rapidly evolving for this disorder. Clinical features, inheritance pattern, gene mutation frequencies, and electrodiagnostic features all are helpful in formulating targeted testing algorithms in practical clinical settings, but these still have shortcomings. Next-generation sequencing (NGS), combined with multigene testing panels, is increasing the sensitivity and efficiency of genetic testing and is quickly overtaking targeted testing strategies. Currently, multigene panel testing and NGS can be considered first-line in many circumstances, although obtaining initial targeted testing for the PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology improves and cost continues to fall, targeted testing will be completely replaced by multigene NGS panels that can detect the full spectrum of CMT mutations. Nevertheless, clinical acumen is still necessary given the variants of uncertain significance encountered with NGS. Despite the current limitations, the genetic diagnosis of CMT is critical for accurate prognostication, genetic counseling, and in the future, specific targeted therapies. Although whole exome and whole genome sequencing strategies have the power to further elucidate the genetics of CMT, continued technological advances are needed. PMID:26527893

  9. Cannabis controversies: how genetics can inform the study of comorbidity.

    Science.gov (United States)

    Agrawal, Arpana; Lynskey, Michael T

    2014-03-01

    To review three key and controversial comorbidities of cannabis use-other illicit drug use, psychosis and depression, as well as suicide, from a genetically informed perspective. Selective review. Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression, as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. © 2014 Society for the Study of Addiction.

  10. A family smoking index to capture genetic influence in smoking: rationale and two validation studies.

    Science.gov (United States)

    Drobes, David J; Munafò, Marcus R; Leigh, Fiona; Saladin, Michael E

    2005-02-01

    Despite a growing appreciation that genetic factors may impart vulnerability toward smoking behavior, only a modest consensus has been created about the specific genetic mechanisms that may underlie various aspects of smoking. A core feature of genetic contribution toward any complex human behavior is familial resemblance. Most previous attempts to index familial smoking have classified individuals into discrete categories, based on the number of smokers in a family. We discuss the development of a continuous measure of familial smoking, the Family Smoking Index (FSI), which is based on the proportion of smokers in first- and second-degree family members and provides a more precise weighting according to genetic proximity. We present the psychometric characteristics of the FSI as well as initial validation data from two studies. We also describe current and future directions for continued FSI validation and application.

  11. Genetic differentiation among Parastichopus regalis populations from Western Mediterranean Sea: potential effects of its fishery and current connectivity.

    Directory of Open Access Journals (Sweden)

    C. MAGGI

    2015-11-01

    Full Text Available Parastichopus regalis (Cuvier, 1817 is the most expensive seafood product on the catalonian market (NE Spain, with prices around 130 €/Kg (fresh weight. Despite its ecological and economic importance, biological and genetic information on this sea cucumber species is scarce. We provided the first insight on the genetic structure of P. regalis using sequences of cytochrome oxidase I (COI and 16S genes, as well as a morphological description of its populations. Individuals were collected in six locations along the Spanish Mediterranean coast, including an area under fishery pressure (Catalonia. We found high haplotype diversity and low nucleotide diversity for both genes, with higher levels of genetic diversity observed on COI gene. Population pairwise fixation index (FST, AMOVA and correspondence analysis (CA based on COI, revealed significant genetic differentiation among some locations. However, further analysis using nuclear markers (e.g. microsatellites would be necessary to corroborate these results. Moreover, the genetic and morphological data may indicate fishery effects on the Catalonian population with decrease of the size and weight average and lower genetic diversity compared to locations without fishery pressure. For an appropriate management of this species, we suggest: 1 an accurate assessment of the stocks status along the Spanish coasts; 2 the study of the reproductive cycle of this target species and the establishment of a closed fishery season according to it; 3 the founding of protected areas (i.e. not take zones to conserve healthy populations and favour the recruitment on the nearby areas.

  12. Class - III malocclusion: Genetics or environment? A twins study

    OpenAIRE

    Jena A; Duggal R; Mathur V; Parkash H

    2005-01-01

    Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The p...

  13. Synthetic biology and molecular genetics in non-conventional yeasts: Current tools and future advances.

    Science.gov (United States)

    Wagner, James M; Alper, Hal S

    2016-04-01

    Coupling the tools of synthetic biology with traditional molecular genetic techniques can enable the rapid prototyping and optimization of yeast strains. While the era of yeast synthetic biology began in the well-characterized model organism Saccharomyces cerevisiae, it is swiftly expanding to include non-conventional yeast production systems such as Hansenula polymorpha, Kluyveromyces lactis, Pichia pastoris, and Yarrowia lipolytica. These yeasts already have roles in the manufacture of vaccines, therapeutic proteins, food additives, and biorenewable chemicals, but recent synthetic biology advances have the potential to greatly expand and diversify their impact on biotechnology. In this review, we summarize the development of synthetic biological tools (including promoters and terminators) and enabling molecular genetics approaches that have been applied in these four promising alternative biomanufacturing platforms. An emphasis is placed on synthetic parts and genome editing tools. Finally, we discuss examples of synthetic tools developed in other organisms that can be adapted or optimized for these hosts in the near future.

  14. Experimental evolution, behavior and genetics: Associative learning as a case study

    Institute of Scientific and Technical Information of China (English)

    Elisabetta VERSACE

    2015-01-01

    The evolutionary dynamics of behavioral traits reflect phenotypic and genetic changes.Methodological difficulties in analyzing the genetic dynamics of complex traits have left open questions on the mechanisms that have shaped complex behaviors and cognitive abilities.A strategy to investigate the change of behavior across generations is to assume that genetic constraints have a negligible role in evolution (the phenotypic gambit) and focus on the phenotype as a proxy for genetic evolution.Empirical evidence and technologic advances in genomics question the choice of neglecting the genetic underlying the dynamics of behavioral evolution.I first discuss the relevance of genetic factors-e.g.genetic variability,genetic linkage,gene interactions -in shaping evolution,showing the importance of taking genetic factors into account when dealing with evolutionary dynamics.I subsequently describe the recent advancements in genetics and genomics that make the investigation of the ongoing evolutionary process of behavioral traits finally attainable.In particular,by applying genomic resequencing to experimental evolution-a method called Evolve & Resequence-it is possible to monitor at the same time phenotypic and genomic changes in populations exposed to controlled selective pressures.Experimental evolution of associative learning,a well-known trait that promptly responds to selection,is a convenient model to illustrate this approach applied to behavior and cognition.Taking into account the recent achievements of the field,I discuss how to design and conduct an effective Evolve & Resequence study on associative learning in Drosophila.By integrating phenotypic and genomic data in the investigation of evolutionary dynamics,new insights can be gained on longstanding questions such as the modularity of mind and its evolution [Current Zoology 61 (2):226-241,2015].

  15. Genetic activation of BK currents in vivo generates bidirectional effects on neuronal excitability.

    Science.gov (United States)

    Montgomery, Jenna R; Meredith, Andrea L

    2012-11-13

    Large-conductance calcium-activated potassium channels (BK) are potent negative regulators of excitability in neurons and muscle, and increasing BK current is a novel therapeutic strategy for neuro- and cardioprotection, disorders of smooth muscle hyperactivity, and several psychiatric diseases. However, in some neurons, enhanced BK current is linked with seizures and paradoxical increases in excitability, potentially complicating the clinical use of agonists. The mechanisms that switch BK influence from inhibitory to excitatory are not well defined. Here we investigate this dichotomy using a gain-of-function subunit (BK(R207Q)) to enhance BK currents. Heterologous expression of BK(R207Q) generated currents that activated at physiologically relevant voltages in lower intracellular Ca(2+), activated faster, and deactivated slower than wild-type currents. We then used BK(R207Q) expression to broadly augment endogenous BK currents in vivo, generating a transgenic mouse from a circadian clock-controlled Period1 gene fragment (Tg-BK(R207Q)). The specific impact on excitability was assessed in neurons of the suprachiasmatic nucleus (SCN) in the hypothalamus, a cell type where BK currents regulate spontaneous firing under distinct day and night conditions that are defined by different complements of ionic currents. In the SCN, Tg-BK(R207Q) expression converted the endogenous BK current to fast-activating, while maintaining similar current-voltage properties between day and night. Alteration of BK currents in Tg-BK(R207Q) SCN neurons increased firing at night but decreased firing during the day, demonstrating that BK currents generate bidirectional effects on neuronal firing under distinct conditions.

  16. The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.

    Science.gov (United States)

    Hogarth, Stuart; Javitt, Gail; Melzer, David

    2008-01-01

    This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices and clinical laboratories. We also discuss a variety of other mechanisms such as general controls on advertising and consumer law mechanisms.

  17. Current status of genetic engineering in cotton (Gossypium hirsutum L): an assessment.

    Science.gov (United States)

    Chakravarthy, Vajhala S K; Reddy, Tummala Papi; Reddy, Vudem Dashavantha; Rao, Khareedu Venkateswara

    2014-06-01

    Cotton is considered as the foremost commercially important fiber crop and is deemed as the backbone of the textile industry. The productivity of cotton crop, worldwide, is severely hampered by the occurrence of pests, weeds, pathogens apart from various environmental factors. Several beneficial agronomic traits, viz., early maturity, improved fiber quality, heat tolerance, etc. have been successfully incorporated into cotton varieties employing conventional hybridization and mutation breeding. Crop losses, due to biotic factors, are substantial and may be reduced through certain crop protection strategies. In recent years, pioneering success has been achieved through the adoption of modern biotechnological approaches. Genetically engineered cotton varieties, expressing Bacillus thuringiensis cry genes, proved to be highly successful in controlling the bollworm complex. Various other candidate genes responsible for resistance to insect pests and pathogens, tolerance to major abiotic stress factors such as temperature, drought and salinity, have been introduced into cotton via genetic engineering methods to enhance the agronomic performance of cotton cultivars. Furthermore, genes for improving the seed oil quality and fiber characteristics have been identified and introduced into cotton cultivars. This review provides a brief overview of the various advancements made in cotton through genetic engineering approaches.

  18. Theoretical studies of non inductive current drive in compact toroids

    NARCIS (Netherlands)

    Farengo, R; Lifschitz, AF; Caputi, KI; Arista, NR; Clemente, RA

    2002-01-01

    Three non inductive current drive methods that can be applied to compact toroids axe studied. The use of neutral beams to drive current in field reversed configurations and spheromaks is studied using a Monte Carlo code that includes a complete ionization package and follows the exact particle orbit

  19. [Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].

    Science.gov (United States)

    Olivares, J L; Hernández, M C; Bueno, M

    1986-09-01

    Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects.

  20. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies

    Directory of Open Access Journals (Sweden)

    Qiong Yang

    2012-01-01

    Full Text Available Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical or different types of components (e.g., some are continuous and others are categorical. We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  1. A genetic Study of Mortality in Danish Jersey Heifer Calves

    DEFF Research Database (Denmark)

    Norberg, Elise; Pryce, Jennie; Pedersen, Jørn

    2013-01-01

    . The mortality traits included in the analysis were defined as mortality in 8 different periods from 24h after birth to age 180d (d 1–14, d 15–30, d 31–60, d 61–90, d 91–120, d 121–150, and d 151–180) and mortality over the entire period. A linear model was used for estimation of genetic parameters, breeding......The aim of this study was to estimate genetic parameters for mortality of Jersey heifer calves during the first 6mo after birth, calculate the genetic trend of the trait, and estimate breeding values of widely used Jersey sires. More than 260,000 heifer calves were included in the study...... values of sires, and genetic trend. Fixed effects included in the model were herd-year class, month of birth, parity of mother, and whether the calf was sold to another farm in the first 6mo. Both direct and maternal genetic effects were included in the model; however, the maternal genetic effect...

  2. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    Science.gov (United States)

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  3. Consent for Genetic Research in the Framingham Heart Study

    Science.gov (United States)

    Levy, Daniel; Splansky, Greta Lee; Strand, Nicolle K.; Atwood, Larry D.; Benjamin, Emelia J.; Blease, Susan; Cupples, L. Adrienne; D’Agostino, Ralph B.; Fox, Caroline S.; Kelly-Hayes, Margaret; Koski, Greg; Larson, Martin G.; Mutalik, Karen M.; Oberacker, Elizabeth; O’Donnell, Christopher J.; Sutherland, Patrice; Valentino, Maureen; Vasan, Ramachandran S.; Wolf, Philip A.; Murabito, Joanne M.

    2010-01-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease; including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. PMID:20425830

  4. Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis.

    Science.gov (United States)

    Brown, Matthew A

    2009-01-01

    The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made.

  5. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study

    OpenAIRE

    Diaz-Lacava, A. N.; Walier, M; D. Holler; Steffens, M; Gieger, C; C. Furlanello; Lamina, C; Wichmann, H E; Becker, T

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was ev...

  6. WONOEP appraisal: new genetic approaches to study epilepsy

    Science.gov (United States)

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  7. Genetics of dietary habits and obesity - a twin study.

    Science.gov (United States)

    Hasselbalch, Ann Louise

    2010-09-01

    Obesity has become a major health concern due to the increased risk of co-morbidities, resulting in decreased quality of life, stigmatization, reduced working ability and early death. This causes a great challenge for the health care systems and results in increased direct costs related to treatment of obesity and co-morbidities, as well as increased indirect costs related to reduced function and withdrawal from the labour market. Both between and within societies, large variation in the prevalence of overweight and obesity exists. This variation is caused by differences in environmental exposures as well as genetic differences between individuals, resulting in differentiated susceptibility to environmental exposures. The evidence for genetic influence on anthropometry has previously been established and has been estimated to be 60-70% based on twin studies. These inter-individual differences can, however, not explain the increase in obesity prevalence during the past 70 years. Environmental factors must therefore play an important role in the obesity epidemic. Habitual diet is one of many environmental factors that potentially contribute to the inter-individual differences in body fat mass, but only limited evidence for associations between habitual dietary intake and anthropometry exists. Differences in habitual dietary intake are also partly determined by differences in genes influencing smell and taste preferences. But, so far, only few studies have investigated genetic influences on dietary intake in adults and the interplay between diet, genes and obesity. The focus of the thesis was to investigate the genetic and environmental influence on habitual diet and obesity as well as the association between habitual diet and anthropometry. The thesis is based on structural equation modelling of twin data from the Danish Twin Registry with special focus on the GEMINAKAR twin study that was performed in 1997-2000. In this study, anthropometric traits of the twin pairs

  8. Genetic and biomarker studies of human longevity

    NARCIS (Netherlands)

    Deelen, Joris

    2014-01-01

    The aim of this thesis was to identify novel lifespan regulating loci that influence human longevity and population mortality. To this end, we performed two genome-wide association studies, one of long-lived individuals from the family-based Leiden Longevity Study (LLS) and an extended one of long-l

  9. Disease-Concordant Twins Empower Genetic Association Studies.

    Science.gov (United States)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

  10. Statistical Analysis of Genetic Data in Twin Studies and Association Studies

    NARCIS (Netherlands)

    Setiawan, A.

    2007-01-01

    In studies in human genetics we want to answer questions such as: how important are genetic effects on a phenotype; what kind of action and interaction exists between gene products in the pathways between genotypes and phenotype; are the genetic effects on a phenotype consistent across sexes; do

  11. Statistical Analysis of Genetic Data in Twin Studies and Association Studies

    NARCIS (Netherlands)

    Setiawan, A.

    2007-01-01

    In studies in human genetics we want to answer questions such as: how important are genetic effects on a phenotype; what kind of action and interaction exists between gene products in the pathways between genotypes and phenotype; are the genetic effects on a phenotype consistent across sexes; do

  12. Advances in genetic studies of substance abuse in China

    Institute of Scientific and Technical Information of China (English)

    Yan SUN; Shiqiu MENG; Jiali LI; Jie SHI; Lin LU

    2013-01-01

    Summary:The importance of genetic factors in substance addiction has long been established. The rationale for this work is that understanding of the function of addiction genes and delineation of the key molecular pathways of these genes would enhance the development of novel therapeutic targets and biomarkers that could be used in the prevention and management of substance abuse. Over the past few years, there has been a substantial increase in the number of genetic studies conducted on addiction in China;these studies have primarily focused on heroin, alcohol, and nicotine dependence. Most studies of candidate genes have concentrated on the dopamine, opioid, and serotonin systems. A number of genes associated with substance abuse in Caucasians are also risk factors in Chinese, but several novel genes and genetic risk factors associated with substance abuse in Chinese subjects have also been identified. This paper reviews the genetic studies of substance abuse performed by Chinese researchers. Genotypes and alleles related to addictive behavior in Chinese individuals are discussed and the contributions of Chinese researchers to the international corpus of knowledge about the genetic understanding of substance abuse are described.

  13. Phenotype-Based Genetic Association Studies (PGAS)-Towards Understanding the Contribution of Common Genetic Variants to Schizophrenia Subphenotypes.

    Science.gov (United States)

    Ehrenreich, Hannelore; Nave, Klaus-Armin

    2014-02-27

    Neuropsychiatric diseases ranging from schizophrenia to affective disorders and autism are heritable, highly complex and heterogeneous conditions, diagnosed purely clinically, with no supporting biomarkers or neuroimaging criteria. Relying on these "umbrella diagnoses", genetic analyses, including genome-wide association studies (GWAS), were undertaken but failed to provide insight into the biological basis of these disorders. "Risk genotypes" of unknown significance with low odds ratios of mostly definition of biological subgroups of mental diseases. For that purpose, the GRAS (Göttingen Research Association for Schizophrenia) data collection was initiated in 2005. With >3000 phenotypical data points per patient, it comprises the world-wide largest currently available schizophrenia database (N > 1200), combining genome-wide SNP coverage and deep phenotyping under highly standardized conditions. First PGAS results on normal genetic variants, relevant for e.g., cognition or catatonia, demonstrated proof-of-concept. Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so-called pro-autistic variants of synaptic genes, explains part of the phenotypical variance. Deep phenotyping and comprehensive clinical data sets, however, are expensive and it may take years before PGAS will complement conventional GWAS approaches in psychiatric genetics.

  14. Constructivisms from a genetic point of view: a critical classification of current tendencies.

    Science.gov (United States)

    Sánchez, José Carlos; Loredo, José Carlos

    2009-12-01

    In this paper, we propose a critical classification of contemporary constructivist orientations. Our fundamental theoretical reference is the notion of genesis, understood as the construction of reality in a way that is neither relativist nor positivist-realist. We identify a nucleus of classic, genetic constructivism that revolves around the ideas of Baldwin, Piaget and Vygotsky and discuss two tendencies that distort the spirit of that nucleus: objectivism and subjectivism. Objectivism rules out the psychological, constructive activity of the subject, subordinating (or just reducing) it to objective structures either from nature (like genetic endowment or neural functioning), or from culture (like language or social practices). Subjectivism completely detaches the objectivity of knowledge from its construction on the part of the subject, reducing it to the mere product of individual interest, view, or irrationality. Thus, subjectivism is the non-constructive way to conceive the subject. Then, we attempt to show the dialectics that exists between these two tendencies and the scope of our criteria by analysing a representative (non exhaustive) group of authors who are defined as constructivists or who bring important elements to the debate about constructivism.

  15. Power assessment for genetic association study of human longevity using offspring of long-lived subjects

    DEFF Research Database (Denmark)

    Tan, Qihua; Zhao, Jing Hua; Li, Shuxia

    2010-01-01

    Recently, an indirect genetic association approach that compares genotype frequencies in offspring of long-lived subjects and offspring from random families has been introduced to study gene-longevity associations. Although the indirect genetic association has certain advantages over the direct...... association approach that compares genotype frequency between centenarians and young controls, the power has been of concern. This paper reports a power study performed on the indirect approach using computer simulation. We perform our simulation study by introducing the current Danish population life table...... and the proportional hazard model for generating individual lifespan. Family genotype data is generated using a genetic linkage program for given SNP allele frequency. Power is estimated by setting the type I error rate at 0.05 and by calculating the Armitage's chi-squared test statistic for 200 replicate samples...

  16. Genetic variation study of 12 X chromosomal STR in central Thailand population.

    Science.gov (United States)

    Vongpaisarnsin, Kornkiat; Boonlert, Achara; Rasmeepaisarn, Kawin; Dangkao, Piyawan

    2016-11-01

    Genetic data from 12 short tandem repeats (STR) on the X chromosome are currently used in forensics studies to resolve issues related to complex kinship or when data is missing or ambiguous. In this study, we genotyped these 12 X chromosome STR in DNA collected from individuals from central Thailand (n = 391, 282 men and 109 women) and used this information to calculate allele and haplotype frequencies as well as forensic parameters for kinship calculations. Polymorphism information contents of the loci were range from 0.5283-0.9247, and powers of discrimination in females and males were 0.7666-0.9905 and 0.6085-0.9291, respectively. A diallelic pattern was observed at the locus DXS7132. Moreover, a comparison of genetic distance revealed a close relationship within Asian countries. Our results indicate that the X chromosomal short tandem repeat (X-STR) multiplex system provides highly informative genetic data and could be advantageous in forensic studies.

  17. Developmental genetics in emerging rodent models: case studies and perspectives.

    Science.gov (United States)

    Mallarino, Ricardo; Hoekstra, Hopi E; Manceau, Marie

    2016-08-01

    For decades, mammalian developmental genetic studies have focused almost entirely on two laboratory models: Mus and Rattus, species that breed readily in the laboratory and for which a wealth of molecular and genetic resources exist. These species alone, however, do not capture the remarkable diversity of morphological, behavioural and physiological traits seen across rodents, a group that represents >40% of all mammal species. Due to new advances in molecular tools and genomic technologies, studying the developmental events underlying natural variation in a wide range of species for a wide range of traits has become increasingly feasible. Here we review several recent studies and discuss how they not only provided technical resources for newly emerging rodent models in developmental genetics but also are instrumental in further encouraging scientists, from a wide range of research fields, to capitalize on the great diversity in development that has evolved among rodents.

  18. The Etruscans: a population-genetic study

    DEFF Research Database (Denmark)

    Vernesi, Cristiano; Caramelli, David; Dupanloup, Isabelle;

    2004-01-01

    The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans' evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences...

  19. Indian studies on genetic polymorphisms and cancer risk

    Directory of Open Access Journals (Sweden)

    A Bag

    2012-01-01

    Full Text Available Genetic influences on cancer development have been extensively investigated during the last decade following publication of human genome sequence. The present review summarizes case-control studies on genetic polymorphisms and cancer risk in Indians. It is observed that the most commonly studied genes in the Indian population included members of phase I and phase II metabolic enzymes. Other than these genes, genetic polymorphisms for cell cycle and apoptosis-related factors, DNA repair enzymes, immune response elements, growth factors, folate metabolizing enzymes, vitamin/hormone receptors, etc., were investigated. Several studies also evidenced a stronger risk for combined genotypes rather than a single polymorphism. Gene-environment interaction was also found to be a determining factor for cancer development in some experiments. Data for single polymorphism and single cancer type, however, was insufficient to validate an association. It appears that much more experiments involving larger sample size, cross-tabulating genetic polymorphisms and environmental factors are required in order to identify genetic markers for different cancers in Indian populations.

  20. Genetic epidemiological study of schizophrenia: reproduction behaviour.

    Science.gov (United States)

    Ritsner, M; Sherina, O; Ginath, Y

    1992-06-01

    Data from the Tomsk Epidemiological Register and epidemiological family sample were used to study the relationship between schizophrenics' reproductive behaviour (marital status and fertility rate), severity of ICD-9 schizophrenia and risk of illness among relatives of probands. The results are interpreted in terms of multifactorial threshold and single monolocus models. Their importance for the interpretation of epidemiological data (a change of prevalence rate, cohort effect and clinical polymorphism) is discussed.

  1. 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

    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...... with an analysis of combinations of two SNP genotypes from among the 325 SNPs. Two clusters of combinations containing 95 patient specific combinations were significantly associated with oral cancer or leukoplakia. Of 373 patients with oral cancer 205 patients had a number of these 95 combinations in their genome...

  2. Advances in molecular genetic studies of primary dystonia

    Directory of Open Access Journals (Sweden)

    MA Ling-yan

    2013-07-01

    Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

  3. Why Is Studying the Genetics of Intelligence So Controversial?

    Science.gov (United States)

    Tabery, James

    2015-01-01

    From the very beginning, studies of the nature and nurture of intelligence have been closely associated with an interest in intervening, and those interventions have been surrounded by controversy. The nature of those controversies has not always been the same, however. Since the mid-nineteenth century, when Francis Galton imagined a science that would assess the extent to which a trait like "genius" was due to nature or due to nurture, science and technology have changed dramatically, and so have the interventions that have been envisioned in light of those developments. A scientist today can search for particular stretches of DNA and assess whether differences in those stretches are associated with differences in a human trait of interest; a genetic counselor today can genetically test an individual (be it an embryo, fetus, newborn, child, or adult) and provide information about what that genetic result means, allowing for interventions that can range from terminating a pregnancy to prescribing chemotherapy. So when one asks a question like, "Why is studying the genetics of intelligence controversial?," it is important to realize up front that the answer will be, "It can be controversial for a variety of different reasons, and those reasons have evolved over time." The purpose of this essay is to provide a survey of the controversies that surround genetic studies of intelligence. With the survey in place, I will then draw out several lessons both for scientists who study the genetics of intelligence as well as for science studies scholars (bioethicists, philosophers, historians, sociologists) who reflect and comment on the controversies surrounding that research.

  4. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

    Science.gov (United States)

    Minear, Mollie A; Alessi, Stephanie; Allyse, Megan; Michie, Marsha; Chandrasekharan, Subhashini

    2015-01-01

    Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

  5. STAT4: Genetics, Mechanisms, and Implications for Autoimmunity Review for Current Allergy and Asthma Reports

    Science.gov (United States)

    Korman, Benjamin D.; Kastner, Daniel L.; Gregersen, Peter K.

    2008-01-01

    Recent advances in genetics and technology have led to breakthroughs in understanding the genes that predispose individuals to autoimmune diseases. A common haplotype of the signal transducer and activator of transcription 4 (STAT4) gene has been shown to be associated with susceptibility to rheumatoid arthritis, systemic lupus erythematosus, and primary Sjögren’s syndrome. STAT4 is a transcription factor that transduces interleukin-12, interleukin-23, and type I interferon cytokine signals in T cells and monocytes, leading to T-helper type 1 and T-helper type 17 differentiation, monocyte activation, and production of interferon-γ. Although the evidence for this association is very strong and well replicated, the exact mechanism by which polymorphisms in this gene lead to disease remains unknown. In concert with the identification of other disease-associated loci, elucidating how the variant form of STAT4 modulates immune function should lead to an improved understanding of the pathophysiology of autoimmunity. PMID:18682104

  6. Study of a fibre optics current sensor for the measurement of plasma current in ITER

    Science.gov (United States)

    Wuilpart, Marc; Vanus, Benoit; Andrasan, Alina; Gusarov, Andrei; Moreau, Philippe; Mégret, Patrice

    2016-05-01

    In this article, we study the feasibility of using a fibre-optics current sensor (FOCS) for the measurement of plasma current in the future fusion reactor ITER. The sensor is based on a classical FOCS interrogator involving the measurement of the state of polarization rotation undergone by the light in presence of a magnetic field (Faraday effect) in an optical fibre surrounding the current and terminated by a Faraday mirror. We considered a uniformly spun optical fibre as the sensing element and we used the Stokes formalism to simulate the sensor. The objective of the simulations is to quantify the ratio LB/SP (beat length over the spun period of the spun fibre) enabling a measurement error in agreement with the ITER specifications. The simulator takes into account the temperature variations undergone by the measurement system under ITER operation. The simulation work showed that a LB/SP ratio of 19.2 is adequate.

  7. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    exposures as well as genetic differences between individuals, resulting in differentiated susceptibility to environmental exposures. The evidence for genetic influence on anthropometry has previously been established and has been estimated to be 60-70% based on twin studies. These inter......Obesity has become a major health concern due to the increased risk of co-morbidities, resulting in decreased quality of life, stigmatization, reduced working ability and early death. This causes a great challenge for the health care systems and results in increased direct costs related...... mass, but only limited evidence for associations between habitual dietary intake and anthropometry exists. Differences in habitual dietary intake are also partly determined by differences in genes influencing smell and taste preferences. But, so far, only few studies have investigated genetic...

  8. Genetic and ecological studies of animals in Chernobyl and Fukushima.

    Science.gov (United States)

    Mousseau, Timothy A; Møller, Anders P

    2014-01-01

    Recent advances in genetic and ecological studies of wild animal populations in Chernobyl and Fukushima have demonstrated significant genetic, physiological, developmental, and fitness effects stemming from exposure to radioactive contaminants. The few genetic studies that have been conducted in Chernobyl generally show elevated rates of genetic damage and mutation rates. All major taxonomic groups investigated (i.e., birds, bees, butterflies, grasshoppers, dragonflies, spiders, mammals) displayed reduced population sizes in highly radioactive parts of the Chernobyl Exclusion Zone. In Fukushima, population censuses of birds, butterflies, and cicadas suggested that abundances were negatively impacted by exposure to radioactive contaminants, while other groups (e.g., dragonflies, grasshoppers, bees, spiders) showed no significant declines, at least during the first summer following the disaster. Insufficient information exists for groups other than insects and birds to assess effects on life history at this time. The differences observed between Fukushima and Chernobyl may reflect the different times of exposure and the significance of multigenerational mutation accumulation in Chernobyl compared to Fukushima. There was considerable variation among taxa in their apparent sensitivity to radiation and this reflects in part life history, physiology, behavior, and evolutionary history. Interestingly, for birds, population declines in Chernobyl can be predicted by historical mitochondrial DNA base-pair substitution rates that may reflect intrinsic DNA repair ability. © The American Genetic Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. 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 (folk 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.

  10. Power assessment for genetic association study of human longevity using offspring of long-lived subjects.

    Science.gov (United States)

    Tan, Qihua; Zhao, Jing Hua; Li, Shuxia; Kruse, Torben A; Christensen, Kaare

    2010-07-01

    Recently, an indirect genetic association approach that compares genotype frequencies in offspring of long-lived subjects and offspring from random families has been introduced to study gene-longevity associations. Although the indirect genetic association has certain advantages over the direct association approach that compares genotype frequency between centenarians and young controls, the power has been of concern. This paper reports a power study performed on the indirect approach using computer simulation. We perform our simulation study by introducing the current Danish population life table and the proportional hazard model for generating individual lifespan. Family genotype data is generated using a genetic linkage program for given SNP allele frequency. Power is estimated by setting the type I error rate at 0.05 and by calculating the Armitage's chi-squared test statistic for 200 replicate samples for each setting of the specified allele risk and frequency parameters under different modes of inheritance and for different sample sizes. The indirect genetic association analysis is a valid approach for studying gene-longevity association, but the sample size requirement is about 3-4 time larger than the direct approach. It also has low power in detecting non-additive effect genes. Indirect genetic association using offspring from families with both parents as nonagenarians is nearly as powerful as using offspring from families with one centenarian parent. In conclusion, the indirect design can be a good choice for studying longevity in comparison with other alternatives, when relatively large sample size is available.

  11. [Felines: an alternative in genetic toxicology studies?].

    Science.gov (United States)

    Zamora-Perez, Ana; Gómez-Meda, Belinda C; Ramos-Ibarra, Maria L; Batista-González, Cecilia M; Luna-Aguirre, Jaime; González-Rodríguez, Andrés; Rodríguez-Avila, José L; Zúñiga-González, Guillermo M

    2008-06-01

    The micronuclei (MN) test carry out in peripheral blood is fast, simple, economic and it is used to detect genotoxic environmental agents. MN are fragments of chromosomes or complete chromosomes remaining in the cytoplasm after cell division, which increase when organisms are exposed to genotoxic agents. Therefore, species with the highest values of spontaneous micronucleated erythrocytes (MNE) are the most suitable to be potentials biomonitor of micronucleogenic agents, using a drop of blood. Nine species of Felines that present spontaneous MNE in peripheral blood are shown. From these species, the cat has been previously proven, with positive results and also lion (Panthera leo), yaguaroundi (Felis yagoaroundi), lynx (Lynx ruffus), jaguar (Panthera onca), puma (Puma concolor), tiger (Panthera tigris), ocelote (Felis padalis) and leopard (Panthera pardus) display spontaneous MNE, and with this characteristic this Family can be propose like a potential group to be used in toxicogenetic studies.

  12. Genetics of Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): current knowledge and future directions.

    Science.gov (United States)

    Blum, Stefan; McCombe, Pamela A

    2014-06-01

    Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are thought to be autoimmune diseases. There have been many attempts to find a human leukocyte antigen (HLA) association with GBS and CIDP with little success. There have been studies of other plausible genes in GBS and CIDP and the role of these genes in GBS and CIDP and the data from these genetic studies is reviewed. Some of the genes that have been studied are immune related and some others have nervous system effects. The studies are limited by small numbers. Some of the genes show association with disease severity rather than disease susceptibility. The need for more detailed molecular studies of the role of HLA molecules and the need for modern genetic approaches to GBS and CIDP are explained.

  13. Experimental study of the dynamics of a thin current sheet

    Science.gov (United States)

    Gekelman, W.; DeHaas, T.; Van Compernolle, B.; Daughton, W.; Pribyl, P.; Vincena, S.; Hong, D.

    2016-05-01

    Many plasmas in natural settings or in laboratory experiments carry currents. In magnetized plasmas the currents can be narrow field-aligned filaments as small as the electron inertial length ≤ft(\\tfrac{c}{{ω }pe}\\right) in the transverse dimension or fill the entire plasma column. Currents can take the form of sheets, again with the transverse dimension the narrow one. Are laminar sheets of electric current in a magnetized plasma stable? This became an important issue in the 1960s when current-carrying plasmas became key in the quest for thermonuclear fusion. The subject is still under study today. The conditions necessary for the onset for tearing are known, the key issue is that of the final state. Is there a final state? One possibility is a collection of stable tubes of current. On the other hand, is the interaction between the current filaments which are the byproduct endless, or does it go on to become chaotic? The subject of three-dimensional current systems is intriguing, rich in a variety of phenomena on multiple scale sizes and frequencies, and relevant to fusion studies, solar physics, space plasmas and astrophysical phenomena. In this study a long (δz = 11 m) and narrow (δx = 1 cm, δy = 20 cm) current sheet is generated in a background magnetoplasma capable of supporting Alfvén waves. The current is observed to rapidly tear into a series of magnetic islands when viewed in a cross-sectional plane, but they are in essence three-dimensional flux ropes. At the onset of the current, magnetic field line reconnection is observed between the flux ropes. The sheet on the whole is kink-unstable, and after kinking exhibits large-scale, low-frequency (f ≪ f ci ) rotation about the background field with an amplitude that grows with distance from the source of the current. Three-dimensional data of the magnetic and electric fields is acquired throughout the duration of the experiment and the parallel resistivity is derived from it. The parallel

  14. Genetic studies of Crohn's disease: past, present and future.

    Science.gov (United States)

    Liu, Jimmy Z; Anderson, Carl A

    2014-06-01

    The exact aetiology of Crohn's disease is unknown, though it is clear from early epidemiological studies that a combination of genetic and environmental risk factors contributes to an individual's disease susceptibility. Here, we review the history of gene-mapping studies of Crohn's disease, from the linkage-based studies that first implicated the NOD2 locus, through to modern-day genome-wide association studies that have discovered over 140 loci associated with Crohn's disease and yielded novel insights into the biological pathways underlying pathogenesis. We describe on-going and future gene-mapping studies that utilise next generation sequencing technology to pinpoint causal variants and identify rare genetic variation underlying Crohn's disease risk. We comment on the utility of genetic markers for predicting an individual's disease risk and discuss their potential for identifying novel drug targets and influencing disease management. Finally, we describe how these studies have shaped and continue to shape our understanding of the genetic architecture of Crohn's disease.

  15. Hamartomatous polyps - a clinical and molecular genetic study

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie

    2016-01-01

    are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological......% fulfilled to diagnostic criteria of JPS. The majority of patients had a single juvenile polyp. Paper II: In this paper we conducted a review of the HPS based on the current literature. Paper III: We investigated the hypothesis that patients with one or few HPs may have a HPS based on genetic screening. We...... reported previously none could be classified as definitely pathogenic or likely pathogenic according to our variant classification scheme and thus we concluded that genetic screening of patients with one or few JPs are not indicated. Paper IV: In Paper IV we investigated one of the ethical aspects of next...

  16. Phenotype-Based Genetic Association Studies (PGAS—Towards Understanding the Contribution of Common Genetic Variants to Schizophrenia Subphenotypes

    Directory of Open Access Journals (Sweden)

    Hannelore Ehrenreich

    2014-02-01

    Full Text Available Neuropsychiatric diseases ranging from schizophrenia to affective disorders and autism are heritable, highly complex and heterogeneous conditions, diagnosed purely clinically, with no supporting biomarkers or neuroimaging criteria. Relying on these “umbrella diagnoses”, genetic analyses, including genome-wide association studies (GWAS, were undertaken but failed to provide insight into the biological basis of these disorders. “Risk genotypes” of unknown significance with low odds ratios of mostly <1.2 were extracted and confirmed by including ever increasing numbers of individuals in large multicenter efforts. Facing these results, we have to hypothesize that thousands of genetic constellations in highly variable combinations with environmental co-factors can cause the individual disorder in the sense of a final common pathway. This would explain why the prevalence of mental diseases is so high and why mutations, including copy number variations, with a higher effect size than SNPs, constitute only a small part of variance. Elucidating the contribution of normal genetic variation to (disease phenotypes, and so re-defining disease entities, will be extremely labor-intense but crucial. We have termed this approach PGAS (“phenotype-based genetic association studies”. Ultimate goal is the definition of biological subgroups of mental diseases. For that purpose, the GRAS (Göttingen Research Association for Schizophrenia data collection was initiated in 2005. With >3000 phenotypical data points per patient, it comprises the world-wide largest currently available schizophrenia database (N > 1200, combining genome-wide SNP coverage and deep phenotyping under highly standardized conditions. First PGAS results on normal genetic variants, relevant for e.g., cognition or catatonia, demonstrated proof-of-concept. Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so

  17. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

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

  18. Fault Diagnosis System of Induction Motors Based on Neural Network and Genetic Algorithm Using Stator Current Signals

    Directory of Open Access Journals (Sweden)

    Tian Han

    2006-01-01

    Full Text Available This paper proposes an online fault diagnosis system for induction motors through the combination of discrete wavelet transform (DWT, feature extraction, genetic algorithm (GA, and neural network (ANN techniques. The wavelet transform improves the signal-to-noise ratio during a preprocessing. Features are extracted from motor stator current, while reducing data transfers and making online application available. GA is used to select the most significant features from the whole feature database and optimize the ANN structure parameter. Optimized ANN is trained and tested by the selected features of the measurement data of stator current. The combination of advanced techniques reduces the learning time and increases the diagnosis accuracy. The efficiency of the proposed system is demonstrated through motor faults of electrical and mechanical origins on the induction motors. The results of the test indicate that the proposed system is promising for the real-time application.

  19. Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies.

    Science.gov (United States)

    Xiao, X; Chang, H; Li, M

    2017-01-03

    Recent large-scale genetic approaches such as genome-wide association studies have allowed the identification of common genetic variations that contribute to risk architectures of psychiatric disorders. However, most of these susceptibility variants are located in noncoding genomic regions that usually span multiple genes. As a result, pinpointing the precise variant(s) and biological mechanisms accounting for the risk remains challenging. By reviewing recent progresses in genetics, functional genomics and neurobiology of psychiatric disorders, as well as gene expression analyses of brain tissues, here we propose a roadmap to characterize the roles of noncoding risk loci in the pathogenesis of psychiatric illnesses (that is, identifying the underlying molecular mechanisms explaining the genetic risk conferred by those genomic loci, and recognizing putative functional causative variants). This roadmap involves integration of transcriptomic data, epidemiological and bioinformatic methods, as well as in vitro and in vivo experimental approaches. These tools will promote the translation of genetic discoveries to physiological mechanisms, and ultimately guide the development of preventive, therapeutic and prognostic measures for psychiatric disorders.Molecular Psychiatry advance online publication, 3 January 2017; doi:10.1038/mp.2016.241.

  20. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

    Science.gov (United States)

    Giugliani, Roberto

    2012-09-01

    with a comprehensive coverage in terms of number of diseases and number of births. Population medical genetics is the area of medical genetics that aims at the study and medical care of the population, and not of the family, which is the case for clinical or medical genetics itself. It combines different aspects of genetics: clinical genetics; human population genetics, which investigates populations according to micro-evolutionary parameters; epidemiological genetics, traditionally involved in the study of common chronic diseases of polygenic etiology, except for Mendelian diseases; and sanitary or community genetics, which stands at the interface with public health, giving support to preventive health measures. Taking into account that several LSDs were identified in a higher frequency in selected areas and/or populations, the population medical genetics approach could help to introduce the NBS for LSDs in the region, with identification of areas with higher risk for selected diseases and design of customized screening program to address specific needs. As an example of the potential of this approach, a pilot program of NBS for MPS VI was implemented in a community from North East Brazil where 13 cases of MPS VI were identified in an area with 50,000 inhabitants. This program, which will enable not only identification and early treatment of affected newborns but also carrier detection, and which would allow genetic counseling for at-risk couples, could be an alternative model for a customized NBS of LSDs to be carried out in selected regions.

  1. Current status of the genetics and molecular taxonomy of Echinococcus species.

    Science.gov (United States)

    McManus, D P

    2013-11-01

    The taxonomy of Echinococcus has long been controversial. Based mainly on differences in morphology and host-parasite specificity characteristics, 16 species and 13 subspecies were originally described. Subsequently, most of these taxa were regarded as synonyms for Echinococcus granulosus and only 4 valid species were recognised: E. granulosus; E. multilocularis; E. oligarthrus and E. vogeli. But, over the past 50 years, laboratory and field observations have revealed considerable phenotypic variability between isolates of Echinococcus, particularly those of E. granulosus, which include differences in: morphology in both larval and adult stages, development in vitro and in vivo, host infectivity and specificity, chemical composition, metabolism, proteins and enzymes, pathogenicity and antigenicity. The application of molecular tools has revealed differences in nucleic acid sequences that reflect this phenotypic variation and the genetic and phenotypic characteristics complement the previous observations made by the descriptive parasitologists many years ago. The fact that some of these variants or strains are poorly or not infective to humans has resulted in a reappraisal of the public health significance of Echinococcus in areas where such variants occur. A revised taxonomy for species in the Echinococcus genus has been proposed that is generally accepted, and is based on the new molecular data and the biological and epidemiological characteristics of host-adapted species and strains.

  2. Genetically engineered virus-resistant plants in developing countries: current status and future prospects.

    Science.gov (United States)

    Reddy, D V R; Sudarshana, M R; Fuchs, M; Rao, N C; Thottappilly, G

    2009-01-01

    Plant viruses cause severe crop losses worldwide. Conventional control strategies, such as cultural methods and biocide applications against arthropod, nematode, and plasmodiophorid vectors, have limited success at mitigating the impact of plant viruses. Planting resistant cultivars is the most effective and economical way to control plant virus diseases. Natural sources of resistance have been exploited extensively to develop virus-resistant plants by conventional breeding. Non-conventional methods have also been used successfully to confer virus resistance by transferring primarily virus-derived genes, including viral coat protein, replicase, movement protein, defective interfering RNA, non-coding RNA sequences, and protease, into susceptible plants. Non-viral genes (R genes, microRNAs, ribosome-inactivating proteins, protease inhibitors, dsRNAse, RNA modifying enzymes, and scFvs) have also been used successfully to engineer resistance to viruses in plants. Very few genetically engineered (GE) virus resistant (VR) crops have been released for cultivation and none is available yet in developing countries. However, a number of economically important GEVR crops, transformed with viral genes are of great interest in developing countries. The major issues confronting the production and deregulation of GEVR crops in developing countries are primarily socio-economic and related to intellectual property rights, biosafety regulatory frameworks, expenditure to generate GE crops and opposition by non-governmental activists. Suggestions for satisfactory resolution of these factors, presumably leading to field tests and deregulation of GEVR crops in developing countries, are given.

  3. A genetic study of loser cows in Danish dairy herds

    DEFF Research Database (Denmark)

    Pedersen, Louise Dybdahl; Jørgensen, Hanne Birgitte Hede; Kargo, Morten

    2013-01-01

    Following the recent years' increase in herd size, the awareness of a group of cows with a generally lowered health and production level, the “loser cows,” has arisen in Denmark. The aim of this study was to estimate genetic correlations between the loser cow score, 305d protein yield and realize...

  4. Studies of twins indicate that genetics influence dietary intake

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise; Heitmann, Berit L; Kyvik, Kirsten O

    2008-01-01

    Habitual dietary intake is a complex behavior that may have both biological and nonbiological bases. We estimated the contribution of genetic and environmental influences on dietary intake in a large population-based sample of healthy twins. Data originated from a cross-sectional study of 600 mal...

  5. Genetic studies in chronic kidney disease: interpretation and clinical applicability.

    Science.gov (United States)

    Witasp, Anna; Nordfors, Louise; Carrero, Juan Jesus; Luttropp, Karin; Lindholm, Bengt; Schalling, Martin; Stenvinkel, Peter

    2012-01-01

    The tools of modern molecular biology are evolving rapidly, resulting in vastly more efficient approaches to illuminating human genetic variations and their effects on common multifactorial disorders such as chronic kidney disease (CKD). Indeed, candidate gene association studies and genome-wide association studies (GWASs) have generated novel genetic variants in previously unrecognized biological pathways, highlighting disease mechanisms with a potential role in CKD etiology, morbidity and mortality. Nephrologists now need to find ways to make use of these advancements and meet the increasingly stringent requirements for valid study design, data handling and interpretation of genetic studies. Adding to our prior article in this journal, which introduced the basics of genotype-phenotype association studies in CKD, this second article focuses on how to ascertain robust and reproducible findings by applying adequate methodological and statistical approaches to genotype-phenotype studies in CKD populations. Moreover, this review will briefly discuss genotype-based risk prediction, pharmacotherapy, drug target identification and individualized treatment solutions, specifically highlighting potentially important findings in CKD patients. This increased knowledge will hopefully facilitate the exciting transition from conventional clinical medicine to gene-based medicine. However, before this can be accomplished, unsolved issues regarding the complex human genetic architecture as well technical and clinically oriented obstacles will have to be overcome. Additionally, new policies and standardized risk evaluations for genetic testing in the clinical setting will have to be established to guarantee that CKD patients are provided with high-quality genotype-guided counseling that will help to improve their poor outcomes.

  6. Considering spatial and temporal scale in landscape-genetic studies of gene flow.

    Science.gov (United States)

    Anderson, Corey Devin; Epperson, Bryan K; Fortin, Marie-Josée; Holderegger, Rolf; James, Patrick M A; Rosenberg, Michael S; Scribner, Kim T; Spear, Stephen

    2010-09-01

    Landscape features exist at multiple spatial and temporal scales, and these naturally affect spatial genetic structure and our ability to make inferences about gene flow. This article discusses how decisions about sampling of genotypes (including choices about analytical methods and genetic markers) should be driven by the scale of spatial genetic structure, the time frame that landscape features have existed in their current state, and all aspects of a species' life history. Researchers should use caution when making inferences about gene flow, especially when the spatial extent of the study area is limited. The scale of sampling of the landscape introduces different features that may affect gene flow. Sampling grain should be smaller than the average home-range size or dispersal distance of the study organism and, for raster data, existing research suggests that simplifying the thematic resolution into discrete classes may result in low power to detect effects on gene flow. Therefore, the methods used to characterize the landscape between sampling sites may be a primary determinant for the spatial scale at which analytical results are applicable, and the use of only one sampling scale for a particular statistical method may lead researchers to overlook important factors affecting gene flow. The particular analytical technique used to correlate landscape data and genetic data may also influence results; common landscape-genetic methods may not be suitable for all study systems, particularly when the rate of landscape change is faster than can be resolved by common molecular markers.

  7. Current political commitments’ challenges for ex situ conservation of plant genetic resources for food and agriculture

    Directory of Open Access Journals (Sweden)

    Maria-Mihaela ANTOFIE

    2011-11-01

    Full Text Available This article is an overview regarding capacity building needs for supporting political commitments’ implementation and furthermore, the development of new political, technical and scientific measures for ensuring the proper conservation of biodiversity and considering in a cost-effective way ex situ conservation tools and methods. Domesticated and wild species, threatened and not threatened native species belonging to the natural capital, due to anthropic pressure and climate change may be drastically affected for their status of conservation in their ecosystems of origin. Thus, ex situ conservation is important to be taken into consideration for ensuring the proper conservation of native species. Still, ex situ conservation is a tool which is in use for many activities for many years such as: research, trade, industry, medicine, pharmaceuticals and agriculture. Romania needs to further develop its specific legislation framework in specific domains such as trade of exotic and native threatened species as well as for other domains such as zoos and aquaria, seeds exchange between botanical gardens, bioprospecting, wild threatened species rescue, capture and reintroduction, collection, access for benefit sharing. Also for agriculture should be developed ex situ conservationmeasures closely connected with breeding programmes dedicated to plant genetic resources for food and agriculture (i.e. gene banks conservation, breeding programmes, on farm conservation. Only by harmonizing at the legal level, based on science, all these specific domains, extremely sensitive, dealing with ex situ conservation it will be possible in the future to secure food and ecosanogenesis ensuring the appropriate status of in situ conservation of biodiversity as a whole. As it is not possible to apply conservation measures, either in situ either ex situ either both, to all species it is appropriate to further develop strategic tools for prioritizing our efforts in a cost

  8. Study on Fault Current of DFIG during Slight Fault Condition

    OpenAIRE

    Xiangping Kong; Zhe Zhang; Xianggen Yin; Zhenxing Li

    2013-01-01

    In order to ensure the safety of DFIG when severe fault happens, crowbar protection is adopted. But during slight fault condition, the crowbar protection will not trip, and the DFIG is still excited by AC-DC-AC converter. In this condition, operation characteristics of the converter have large influence on the fault current characteristics of DFIG. By theoretical analysis and digital simulation, the fault current characteristics of DFIG during slight voltage dips are studied. And the influenc...

  9. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  10. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  11. Genetic Control of Canine Leishmaniasis: Genome-Wide Association Study and Genomic Selection Analysis

    OpenAIRE

    Javier Quilez; Verónica Martínez; Woolliams, John A; Armand Sanchez; Ricardo Pong-Wong; Kennedy, Lorna J.; Quinnell, Rupert J.; Ollier, William E R; Xavier Roura; Lluís Ferrer; Laura Altet; Olga Francino

    2012-01-01

    BACKGROUND: The current disease model for leishmaniasis suggests that only a proportion of infected individuals develop clinical disease, while others are asymptomatically infected due to immune control of infection. The factors that determine whether individuals progress to clinical disease following Leishmania infection are unclear, although previous studies suggest a role for host genetics. Our hypothesis was that canine leishmaniasis is a complex disease with multiple loci responsible for...

  12. Genetic variants influencing effectiveness of exercise training programmes in obesity - an overview of human studies.

    Science.gov (United States)

    Leońska-Duniec, A; Ahmetov, I I; Zmijewski, P

    2016-09-01

    Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary.

  13. Use of the IRAP marker to study genetic variability in Pseudocercospora fijiensis populations.

    Science.gov (United States)

    de Queiroz, Casley Borges; Santana, Mateus Ferreira; da Silva, Gilvan Ferreira; Mizubuti, Eduardo Seiti Gomide; de Araújo, Elza Fernandes; de Queiroz, Marisa Vieira

    2014-03-01

    Pseudocercospora fijiensis is the etiological agent of black Sigatoka, which is currently considered as one of the most destructive banana diseases in all locations where it occurs. It is estimated that a large portion of the P. fijiensis genome consists of transposable elements, which allows researchers to use transposon-based molecular markers in the analysis of genetic variability in populations of this pathogen. In this context, the inter-retrotransposon-amplified polymorphism (IRAP) was used to study the genetic variability in P. fijiensis populations from different hosts and different geographical origins in Brazil. A total of 22 loci were amplified and 77.3 % showed a polymorphism. Cluster analysis revealed two major groups in Brazil. The observed genetic diversity (H E) was 0.22, and through molecular analysis of variance, it was determined that the greatest genetic variability occurs within populations. The discriminant analysis of principal components revealed no structuring related to the geographical origin of culture of the host. The IRAP-based marker system is a suitable tool for the study of genetic variability in P. fijiensis.

  14. Study of the weak charged hadronic current in b decays

    Science.gov (United States)

    Acciarri, M.; Adriani, O.; Aguilar-Benitez, M.; Ahlen, S.; Alpat, B.; Alcaraz, J.; Alemanni, G.; Allaby, J.; Aloisio, A.; Alverson, G.; Alviggi, M. G.; Ambrosi, G.; Anderhub, H.; Andreev, V. P.; Angelescu, T.; Anselmo, F.; Antreasyan, D.; Arefiev, A.; Azemoon, T.; Aziz, T.; Bagnaia, P.; Baksay, L.; Ball, R. C.; Banerjee, S.; Banicz, K.; Barillère, R.; Barone, L.; Bartalini, P.; Baschirotto, A.; Basile, M.; Battiston, R.; Bay, A.; Becattini, F.; Becker, U.; Behner, F.; Berdugo, J.; Berges, P.; Bertucci, B.; Betev, B. L.; Bhattacharya, S.; Biasini, M.; Biland, A.; Bilei, G. M.; Blaising, J. J.; Blyth, S. C.; Bobbink, G. J.; Bock, R.; Böhm, A.; Borgia, B.; Boucham, A.; Bourilkov, D.; Bourquin, M.; Boutigny, D.; Branson, J. G.; Brigljevic, V.; Brock, I. C.; Buffini, A.; Buijs, A.; Burger, J. D.; Burger, W. J.; Busenitz, J.; Buytenhuijs, A.; Cai, X. D.; Campanelli, M.; Capell, M.; Romeo, G. Cara; Caria, M.; Carlino, G.; Cartacci, A. M.; Casaus, J.; Castellini, G.; Cavallari, F.; Cavallo, N.; Cecchi, C.; Cerrada, M.; Cesaroni, F.; Chamizo, M.; Chan, A.; Chang, Y. H.; Chaturvedi, U. K.; Chemarin, M.; Chen, A.; Chen, G.; Chen, G. M.; Chen, H. F.; Chen, H. S.; Chen, M.; Chiefari, G.; Chien, C. Y.; Choi, M. T.; Cifarelli, L.; Cindolo, F.; Civinini, C.; Clare, I.; Clare, R.; Cohn, H. O.; Coignet, G.; Colijn, A. P.; Colino, N.; Commichau, V.; Costantini, S.; Cotorobai, F.; de La Cruz, B.; Csilling, A.; Dai, T. S.; D'Alessandro, R.; de Asmundis, R.; de Boeck, H.; Degré, A.; Deiters, K.; Denes, P.; Denotaristefani, F.; Dibitonto, D.; Diemoz, M.; van Dierendonck, D.; di Lodovico, F.; Dionisi, C.; Dittmar, M.; Dominguez, A.; Doria, A.; Dorne, I.; Dova, M. T.; Drago, E.; Duchesneau, D.; Duinker, P.; Duran, I.; Dutta, S.; Easo, S.; Efremenko, Yu.; El Mamouni, H.; Engler, A.; Eppling, F. J.; Erné, F. C.; Ernenwein, J. P.; Extermann, P.; Fabre, M.; Faccini, R.; Falciano, S.; Favara, A.; Fay, J.; Fedin, O.; Felcini, M.; Fenyi, B.; Ferguson, T.; Fernandez, D.; Ferroni, F.; Fesefeldt, H.; Fiandrini, E.; Field, J. H.; Filthaut, F.; Fisher, P. H.; Forconi, G.; Fredj, L.; Freudenreich, K.; Furetta, C.; Galaktionov, Yu.; Ganguli, S. N.; Garcia-Abia, P.; Gau, S. S.; Gentile, S.; Gerald, J.; Gheordanescu, N.; Giagu, S.; Goldfarb, S.; Goldstein, J.; Gong, Z. F.; Gougas, A.; Gratta, G.; Gruenewald, M. W.; Gupta, V. K.; Gurtu, A.; Gutay, L. J.; Hartmann, B.; Hasan, A.; Hatzifotiadou, D.; Hebbeker, T.; Hervé, A.; van Hoek, W. C.; Hofer, H.; Hoorani, H.; Hou, S. R.; Hu, G.; Innocente, V.; Janssen, H.; Jenkes, K.; Jin, B. N.; Jones, L. W.; de Jong, P.; Josa-Mutuberria, I.; Kasser, A.; Khan, R. A.; Kamrad, D.; Kamyshkov, Yu.; Kapustinsky, J. S.; Karyotakis, Y.; Kaur, M.; Kienzle-Focacci, M. N.; Kim, D.; Kim, J. K.; Kim, S. C.; Kim, Y. G.; Kinnison, W. W.; Kirkby, A.; Kirkby, D.; Kirkby, J.; Kiss, D.; Kittel, W.; Klimentov, A.; König, A. C.; Korolko, I.; Koutsenko, V.; Kraemer, R. W.; Krenz, W.; Kuijten, H.; Kunin, A.; de Guevara, P. Ladron; Landi, G.; Lapoint, C.; Lassila-Perini, K.; Laurikainen, P.; Lebeau, M.; Lebedev, A.; Lebrun, P.; Lecomte, P.; Lecoq, P.; Le Coultre, P.; Lee, J. S.; Lee, K. Y.; Leggett, C.; Le Goff, J. M.; Leiste, R.; Leonardi, E.; Levtchenko, P.; Li, C.; Lieb, E.; Lin, W. T.; Linde, F. L.; Lista, L.; Liu, Z. A.; Lohmann, W.; Longo, E.; Lu, W.; Lu, Y. S.; Lübelsmeyer, K.; Luci, C.; Luckey, D.; Luminari, L.; Lustermann, W.; Ma, W. G.; Maity, M.; Majumder, G.; Malgeri, L.; Malinin, A.; Maña, C.; Mangla, S.; Marchesini, P.; Marin, A.; Martin, J. P.; Marzano, F.; Massaro, G. G. G.; McNally, D.; Mele, S.; Merola, L.; Meschini, M.; Metzger, W. J.; von der Mey, M.; Mi, Y.; Mihul, A.; van Mil, A. J. W.; Mirabelli, G.; Mnich, J.; Molnar, P.; Monteleoni, B.; Moore, R.; Morganti, S.; Moulik, T.; Mount, R.; Müller, S.; Muheim, F.; Nagy, E.; Nahn, S.; Napolitano, M.; Nessi-Tedaldi, F.; Newman, H.; Niessen, T.; Nippe, A.; Nisati, A.; Nowak, H.; Opitz, H.; Organtini, G.; Ostonen, R.; Pandoulas, D.; Paoletti, S.; Paolucci, P.; Park, H. K.; Pascale, G.; Passaleva, G.; Patricelli, S.; Paul, T.; Pauluzzi, M.; Paus, C.; Pauss, F.; Peach, D.; Pei, Y. J.; Pensotti, S.; Perret-Gallix, D.; Petrak, S.; Pevsner, A.; Piccolo, D.; Pieri, M.; Pinto, J. C.; Piroué, P. A.; Pistolesi, E.; Plyaskin, V.; Pohl, M.; Pojidaev, V.; Postema, H.; Produit, N.; Prokofiev, D.; Rahal-Callot, G.; Rancoita, P. G.; Rattaggi, M.; Raven, G.; Razis, P.; Read, K.; Ren, D.; Rescigno, M.; Reucroft, S.; van Rhee, T.; Riemann, S.; Riemers, B. C.; Riles, K.; Rind, O.; Ro, S.; Robohm, A.; Rodin, J.; Rodriguez, F. J.; Roe, B. P.; Romero, L.; Rosier-Lees, S.; Rosselet, Ph.; van Rossum, W.; Roth, S.; Rubio, J. A.; Rykaczewski, H.; Salicio, J.; Sanchez, E.; Santocchia, A.; Sarakinos, M. E.; Sarkar, S.; Sassowsky, M.; Sauvage, G.; Schäfer, C.; Schegelsky, V.; Schmidt-Kaerst, S.; Schmitz, D.; Schmitz, P.; Schneegans, M.; Scholz, N.; Schopper, H.; Schotanus, D. J.; Schwenke, J.; Schwering, G.; Sciacca, C.; Sciarrino, D.; Sens, J. C.; Servoli, L.; Shevchenko, S.; Shivarov, N.; Shoutko, V.; Shukla, J.; Shumilov, E.; Shvorob, A.; Siedenburg, T.; Son, D.; Sopczak, A.; Soulimov, V.; Smith, B.; Spillantini, P.; Steuer, M.; Stickland, D. P.; Stone, H.; Stoyanov, B.; Straessner, A.; Strauch, K.; Sudhakar, K.; Sultanov, G.; Sun, L. Z.; Susinno, G. F.; Suter, H.; Swain, J. D.; Tang, X. W.; Tauscher, L.; Taylor, L.; Ting, Samuel C. C.; Ting, S. M.; Tonutti, M.; Tonwar, S. C.; Tóth, J.; Tully, C.; Tuchscherer, H.; Tung, K. L.; Uchida, Y.; Ulbricht, J.; Uwer, U.; Valente, E.; van de Walle, R. T.; Vesztergombi, G.; Vetlitsky, I.; Viertel, G.; Vivargent, M.; Völkert, R.; Vogel, H.; Vogt, H.; Vorobiev, I.; Vorobyov, A. A.; Vorvolakos, A.; Wadhwa, M.; Wallraff, W.; Wang, J. C.; Wang, X. L.; Wang, Z. M.; Weber, A.; Wittgenstein, F.; Wu, S. X.; Wynhoff, S.; Xu, J.; Xu, Z. Z.; Yang, B. Z.; Yang, C. G.; Yao, X. Y.; Ye, J. B.; Yeh, S. C.; You, J. M.; Zalite, An.; Zalite, Yu.; Zemp, P.; Zeng, Y.; Zhang, Z.; Zhang, Z. P.; Zhou, B.; Zhou, Y.; Zhu, G. Y.; Zhu, R. Y.; Zichichi, A.; Ziegler, F.

    1997-02-01

    Charged and neutral particle multiplicities of jets associated with identified semileptonic and hadronic b decays are studied. The observed differences between these jets are used to determine the inclusive properties of the weak charged hadronic current. The average charged particle multiplicity of the weak charged hadronic current in b decays is measured for the first time to be 2.69+/-0.07 (stat.)+/-0.14(syst.). This result is in good agreement with the JETSET hadronization model of the weak charged hadronic current if 40+/-17% of the produced mesons are light-flavored tensor (L=1) mesons. This level of tensor meson production is consistent with the measurement of the π0 multiplicity in the weak charged hadronic current in b decays.

  15. Study of the Weak Charged Hadronic Current in b Decays

    CERN Document Server

    Acciarri, M; Aguilar-Benítez, M; Ahlen, S P; Alpat, B; Alcaraz, J; Alemanni, G; Allaby, James V; Aloisio, A; Alverson, G; Alviggi, M G; Ambrosi, G; Anderhub, H; Andreev, V P; Angelescu, T; Anselmo, F; Antreasyan, D; Arefev, A; Azemoon, T; Aziz, T; Bagnaia, P; Baksay, L; Ball, R C; Banerjee, S; Banicz, K; Barillère, R; Barone, L; Bartalini, P; Baschirotto, A; Basile, M; Battiston, R; Bay, A; Becattini, F; Becker, U; Behner, F; Berdugo, J; Berges, P; Bertucci, B; Betev, B L; Bhattacharya, S; Biasini, M; Biland, A; Bilei, G M; Blaising, J J; Blyth, S C; Bobbink, Gerjan J; Böck, R K; Böhm, A; Borgia, B; Boucham, A; Bourilkov, D; Bourquin, Maurice; Boutigny, D; Branson, J G; Brigljevic, V; Brock, I C; Buffini, A; Buijs, A; Burger, J D; Burger, W J; Busenitz, J K; Buytenhuijs, A O; Cai, X D; Campanelli, M; Capell, M; Cara Romeo, G; Caria, M; Carlino, G; Cartacci, A M; Casaus, J; Castellini, G; Cavallari, F; Cavallo, N; Cecchi, C; Cerrada-Canales, M; Cesaroni, F; Chamizo-Llatas, M; Chan, A; Chang, Y H; Chaturvedi, U K; Chemarin, M; Chen, A; Chen, G; Chen, G M; Chen, H F; Chen, H S; Chen, M; Chiefari, G; Chien, C Y; Choi, M T; Cifarelli, Luisa; Cindolo, F; Civinini, C; Clare, I; Clare, R; Cohn, H O; Coignet, G; Colijn, A P; Colino, N; Commichau, V; Costantini, S; Cotorobai, F; de la Cruz, B; Csilling, Akos; Dai, T S; D'Alessandro, R; De Asmundis, R; De Boeck, H; Degré, A; Deiters, K; Denes, P; De Notaristefani, F; DiBitonto, Daryl; Diemoz, M; Van Dierendonck, D N; Di Lodovico, F; Dionisi, C; Dittmar, Michael; Dominguez, A; Doria, A; Dorne, I; Dova, M T; Drago, E; Duchesneau, D; Duinker, P; Durán, I; Dutta, S; Easo, S; Efremenko, Yu V; El-Mamouni, H; Engler, A; Eppling, F J; Erné, F C; Ernenwein, J P; Extermann, Pierre; Fabre, M; Faccini, R; Falciano, S; Favara, A; Fay, J; Fedin, O; Felcini, Marta; Fenyi, B; Ferguson, T; Fernández, D; Ferroni, F; Fesefeldt, H S; Fiandrini, E; Field, J H; Filthaut, Frank; Fisher, P H; Forconi, G; Fredj, L; Freudenreich, Klaus; Furetta, C; Galaktionov, Yu; Ganguli, S N; García-Abia, P; Gau, S S; Gentile, S; Gerald, J; Gheordanescu, N; Giagu, S; Goldfarb, S; Goldstein, J; Gong, Z F; Gougas, Andreas; Gratta, Giorgio; Grünewald, M W; Gupta, V K; Gurtu, A; Gutay, L J; Hartmann, B; Hasan, A; Hatzifotiadou, D; Hebbeker, T; Hervé, A; Van Hoek, W C; Hofer, H; Hoorani, H; Hou, S R; Hu, G; Innocente, Vincenzo; Janssen, H; Jenkes, K; Jin, B N; Jones, L W; de Jong, P; Josa-Mutuberria, I; Kasser, A; Khan, R A; Kamrad, D; Kamyshkov, Yu A; Kapustinsky, J S; Karyotakis, Yu; Kaur, M; Kienzle-Focacci, M N; Kim, D; Kim, J K; Kim, S C; Kim, Y G; Kinnison, W W; Kirkby, A; Kirkby, D; Kirkby, Jasper; Kiss, D; Kittel, E W; Klimentov, A; König, A C; Korolko, I; Koutsenko, V F; Krämer, R W; Krenz, W; Kuijten, H; Kunin, A; Ladrón de Guevara, P; Landi, G; Lapoint, C; Lassila-Perini, K M; Laurikainen, P; Lebeau, M; Lebedev, A; Lebrun, P; Lecomte, P; Lecoq, P; Le Coultre, P; Lee Jae Sik; Lee, K Y; Leggett, C; Le Goff, J M; Leiste, R; Leonardi, E; Levchenko, P M; Li Chuan; Lieb, E H; Lin, W T; Linde, Frank L; Lista, L; Liu, Z A; Lohmann, W; Longo, E; Lu, W; Lü, Y S; Lübelsmeyer, K; Luci, C; Luckey, D; Luminari, L; Lustermann, W; Ma Wen Gan; Maity, M; Majumder, G; Malgeri, L; Malinin, A; Maña, C; Mangla, S; Marchesini, P A; Marin, A; Martin, J P; Marzano, F; Massaro, G G G; McNally, D; Mele, S; Merola, L; Meschini, M; Metzger, W J; Von der Mey, M; Mi, Y; Mihul, A; Van Mil, A J W; Mirabelli, G; Mnich, J; Molnár, P; Monteleoni, B; Moore, R; Morganti, S; Moulik, T; Mount, R; Müller, S; Muheim, F; Nagy, E; Nahn, S; Napolitano, M; Nessi-Tedaldi, F; Newman, H; Nippe, A; Nisati, A; Nowak, H; Opitz, H; Organtini, G; Ostonen, R; Pandoulas, D; Paoletti, S; Paolucci, P; Park, H K; Pascale, G; Passaleva, G; Patricelli, S; Paul, T; Pauluzzi, M; Paus, C; Pauss, Felicitas; Peach, D; Pei, Y J; Pensotti, S; Perret-Gallix, D; Petrak, S; Pevsner, A; Piccolo, D; Pieri, M; Pinto, J C; Piroué, P A; Pistolesi, E; Plyaskin, V; Pohl, M; Pozhidaev, V; Postema, H; Produit, N; Prokofev, D; Prokofiev, D O; Rahal-Callot, G; Rancoita, P G; Rattaggi, M; Raven, G; Razis, P A; Read, K; Ren, D; Rescigno, M; Reucroft, S; Van Rhee, T; Riemann, S; Riemers, B C; Riles, K; Rind, O; Ro, S; Robohm, A; Rodin, J; Rodríguez-Calonge, F J; Roe, B P; Romero, L; Rosier-Lees, S; Rosselet, P; Van Rossum, W; Roth, S; Rubio, Juan Antonio; Rykaczewski, H; Salicio, J; Sánchez, E; Santocchia, A; Sarakinos, M E; Sarkar, S; Sassowsky, M; Sauvage, G; Schäfer, C; Shchegelskii, V; Schmidt-Kärst, S; Schmitz, D; Schmitz, P; Schneegans, M; Scholz, N; Schopper, Herwig Franz; Schotanus, D J; Schwenke, J; Schwering, G; Sciacca, C; Sciarrino, D; Sens, Johannes C; Servoli, L; Shevchenko, S; Shivarov, N; Shoutko, V; Shukla, J; Shumilov, E; Shvorob, A V; Siedenburg, T; Son, D; Sopczak, André; Soulimov, V; Smith, B; Spillantini, P; Steuer, M; Stickland, D P; Stone, H; Stoyanov, B; Strässner, A; Strauch, K; Sudhakar, K; Sultanov, G G; Sun, L Z; Susinno, G F; Suter, H; Swain, J D; Tang, X W; Tauscher, Ludwig; Taylor, L; Ting, Samuel C C; Ting, S M; Tonutti, M; Tonwar, S C; Tóth, J; Tully, C; Tuchscherer, H; Tung, K L; Uchida, Y; Ulbricht, J; Uwer, U; Valente, E; Van de Walle, R T; Vesztergombi, G; Vetlitskii, I; Viertel, Gert M; Vivargent, M; Völkert, R; Vogel, H; Vogt, H; Vorobev, I; Vorobyov, A A; Vorvolakos, A; Wadhwa, M; Wallraff, W; Wang, J C; Wang, X L; Wang, Z M; Weber, A; Wittgenstein, F; Wu, S X; Wynhoff, S; Xu, J; Xu, Z Z; Yang, B Z; Yang, C G; Yao, X Y; Ye, J B; Yeh, S C; You, J M; Zalite, A; Zalite, Yu; Zemp, P; Zeng, Y; Zhang, Z; Zhang, Z P; Zhou, B; Zhou, Y; Zhu, G Y; Zhu, R Y; Zichichi, Antonino; Ziegler, F

    1997-01-01

    Charged and neutral particle multiplicities of jets associated with identified semileptonic and hadronic b decays are studied. The observed differences between these jets are used to determine the inclusive properties of the weak charged hadronic current. The average charged particle multiplicity of the weak charged hadronic current in b decays is measured for the first time to be 2.69$\\pm$0.07(stat.)$\\pm$0.14(syst.). This result is in good agreement with the JETSET hadronization model of the weak charged hadronic current if 40$\\pm$17\\% of the produced mesons are light--flavored tensor (L=1) mesons. This level of tensor meson production is consistent with the measurement of the $\\pi^0$ multiplicity in the weak charged hadronic current in b decays. \\end{abstract}

  16. Consent for Genetic Research in the Framingham Heart Study

    OpenAIRE

    2010-01-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease; including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investi...

  17. Critical current studies of a HTS rectangular coil

    Energy Technology Data Exchange (ETDEWEB)

    Zhong, Z. [Department of Engineering, University of Cambridge (United Kingdom); Chudy, M., E-mail: Michal.chudy@stuba.sk [Graduate School of Technology Management, University of Pretoria (South Africa); Institute of Power and Applied Electrical Engineering, Slovak University of Technology in Bratislava (Slovakia); Ruiz, H.S. [Department of Engineering, University of Leicester, Leicester LE1 7RH (United Kingdom); Zhang, X.; Coombs, T. [Department of Engineering, University of Cambridge (United Kingdom)

    2017-05-15

    Highlights: • Unique square pancake coil was manufactured. • Measurements in relatively high magnetic field were performed. • Different sections of the coil were characterized. • Parts of the coil which are limiting critical current were identified. - Abstract: Nowadays, superconducting high field magnets are used in numerous applications due to their superior properties. High temperature superconductors (HTS) are usually used for production of circular pancake or racetrack coils. However different geometries of HTS coils might be required for some specific applications. In this study, the HTS coil wound on a rectangular frame was fully characterized in homogeneous DC background field. The study contains measurements of critical current angular dependencies. The critical current of the entire coil and two selected strands under different magnitudes and orientations of external magnetic fields are measured. The critical regions of the coil in different angular regimes are determined. This study brings better understanding of the in- field performance of HTS coils wound on frames with right-angles.

  18. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

    OpenAIRE

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they ...

  19. Disease-Concordant Twins Empower Genetic Association Studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...

  20. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    equation modelling of twin data from the Danish Twin Registry with special focus on the GEMINAKAR twin study that was performed in 1997-2000. In this study, anthropometric traits of the twin pairs were measured and habitual dietary intake was assessed through a food frequency questionnaire (FFQ). When...... residual genetic influence existed. Based on information about habitual diet from the FFQ the genetic influence on total energy intake, macronutrient intake, as well as intake of energy from 20 food groups, was estimated. The proportion of variation in dietary intake explained by variation in genes....... The study showed, however, consistent positive associations between intake of sugar-sweetened soft drink and BMI, FMI and waist circumference in men. Gene-environment interaction models showed that while high physical activity is associated with a down-regulation of genes predisposing to obesity...

  1. Methods for Analyzing Multivariate Phenotypes in Genetic Association Studies.

    Science.gov (United States)

    Yang, Qiong; Wang, Yuanjia

    2012-05-01

    This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Multivariate phenotypes are frequently encountered in genetic association studies. The purpose of analyzing multivariate phenotypes usually includes discovery of novel genetic variants of pleiotropy effects, that is, affecting multiple phenotypes, and the ultimate goal of uncovering the underlying genetic mechanism. In recent years, there have been new method development and application of existing statistical methods to such phenotypes. In this paper, we provide a review of the available methods for analyzing association between a single marker and a multivariate phenotype consisting of the same type of components (e.g., all continuous or all categorical) or different types of components (e.g., some are continuous and others are categorical). We also reviewed causal inference methods designed to test whether the detected association with the multivariate phenotype is truly pleiotropy or the genetic marker exerts its effects on some phenotypes through affecting the others.

  2. The genetics of resistance to powdery mildew in cultivated oats (Avena sativa L.): current status of major genes.

    Science.gov (United States)

    Hsam, Sai L K; Mohler, Volker; Zeller, Friedrich J

    2014-05-01

    The genetics of resistance to powdery mildew caused by Blumeria graminis f. sp. avenae of four cultivated oats was studied using monosomic analysis. Cultivar 'Bruno' carries a gene (Pm6) that shows a recessive mode of inheritance and is located on chromosome 10D. Cultivar 'Jumbo' possesses a dominant resistance gene (Pm1) on chromosome 1C. In cultivar 'Rollo', in addition to the gene Pm3 on chromosome 17A, a second dominant resistance gene (Pm8) was identified and assigned to chromosome 4C. In breeding line APR 122, resistance was conditioned by a dominant resistance gene (Pm7) that was allocated to chromosome 13A. Genetic maps established for resistance genes Pm1, Pm6 and Pm7 employing amplified fragment length polymorphism (AFLP) markers indicated that these genes are independent of each other, supporting the results from monosomic analysis.

  3. Current hepatitis B virus infection situation in Indonesia and its genetic diversity.

    Science.gov (United States)

    Lusida, Maria Inge; Juniastuti; Yano, Yoshihiko

    2016-08-28

    Indonesia has a moderate to high endemicity of hepatitis B virus (HBV) infection. The risk for chronic HBV infection is highest among those infected during infancy. Since 1997, hepatitis B (HepB) vaccination of newborns has been fully integrated into the National Immunization Program. Although HBV infection has been reduced by the universal newborn HepB immunization program, it continues to occur in Indonesia. The low birth dose coverage and the presence of vaccine escape mutants might contribute to this endemicity among children. Although limited information is available for an analysis of occult HBV infection (OBI), several variations and substitutions in the pre-S/S region have been detected in Indonesian HBV strains. Additionally, persistent infection and disease progression of chronic hepatitis B are related to not only viral factors but also the host genome. Indonesia is one of the most ethnically heterogeneous nations, with Javanese and Sundanese as the two highest ethnic groups. This multi-ethnicity makes genomic research in Indonesia difficult. In this article, we focused on and reviewed the following aspects: the current hepatitis B immunization program and its efficacy, OBI, HBV infection among high-risk patients, such as hemodialysis patients, and research regarding the host genome in Indonesia.

  4. Current hepatitis B virus infection situation in Indonesia and its genetic diversity

    Science.gov (United States)

    Lusida, Maria Inge; Juniastuti; Yano, Yoshihiko

    2016-01-01

    Indonesia has a moderate to high endemicity of hepatitis B virus (HBV) infection. The risk for chronic HBV infection is highest among those infected during infancy. Since 1997, hepatitis B (HepB) vaccination of newborns has been fully integrated into the National Immunization Program. Although HBV infection has been reduced by the universal newborn HepB immunization program, it continues to occur in Indonesia. The low birth dose coverage and the presence of vaccine escape mutants might contribute to this endemicity among children. Although limited information is available for an analysis of occult HBV infection (OBI), several variations and substitutions in the pre-S/S region have been detected in Indonesian HBV strains. Additionally, persistent infection and disease progression of chronic hepatitis B are related to not only viral factors but also the host genome. Indonesia is one of the most ethnically heterogeneous nations, with Javanese and Sundanese as the two highest ethnic groups. This multi-ethnicity makes genomic research in Indonesia difficult. In this article, we focused on and reviewed the following aspects: the current hepatitis B immunization program and its efficacy, OBI, HBV infection among high-risk patients, such as hemodialysis patients, and research regarding the host genome in Indonesia. PMID:27621573

  5. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

    Directory of Open Access Journals (Sweden)

    van der Vleuten Cees

    2011-02-01

    Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

  6. Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings

    Science.gov (United States)

    de Leon, Jose; Diaz, Francisco J.

    2012-01-01

    The association between schizophrenia and tobacco smoking has been described in more than 1,000 articles, many with inadequate methodology. The studies on this association can focus on: (1) current smoking, ever smoking or smoking cessation; (2) non-psychiatric controls or controls with severe mental illness (e.g., bipolar disorder); and (3) higher smoking frequency or greater usage in smokers. The association with the most potential for genetic studies is that between ever daily smoking and schizophrenia; it may reflect a shared genetic vulnerability. To reduce the number of false-positive genes, we propose a three-stage approach derived from epidemiological knowledge. In the first stage, only genetic variations associated with ever daily smoking that are simultaneously significant within the non-psychiatric controls, the bipolar disorder controls and the schizophrenia cases will be selected. Only those genetic variations that are simultaneously significant in the three hypothesis tests will be tested in the second stage, where the prevalence of the genes must be significantly higher in schizophrenia than in bipolar disorder, and significantly higher in bipolar disorder than in controls. The genes simultaneously significant in the second stage will be included in a third stage where the gene variations must be significantly more frequent in schizophrenia patients who did not start smoking daily until their 20s (late start) versus those who had an early start. Any genetic approach to psychiatric disorders may fail if attention is not given to comorbidity and epidemiological studies that suggest which comorbidities are likely to be explained by genetics and which are not. Our approach, which examines the results of epidemiological studies on comorbidities and then looks for genes that simultaneously satisfy epidemiologically suggested sets of hypotheses, may also apply to the study of other major illnesses. PMID:22190153

  7. Multiethnic genetic association studies improve power for locus discovery.

    Directory of Open Access Journals (Sweden)

    Sara L Pulit

    Full Text Available To date, genome-wide association studies have focused almost exclusively on populations of European ancestry. These studies continue with the advent of next-generation sequencing, designed to systematically catalog and test low-frequency variation for a role in disease. A complementary approach would be to focus further efforts on cohorts of multiple ethnicities. This leverages the idea that population genetic drift may have elevated some variants to higher allele frequency in different populations, boosting statistical power to detect an association. Based on empirical allele frequency distributions from eleven populations represented in HapMap Phase 3 and the 1000 Genomes Project, we simulate a range of genetic models to quantify the power of association studies in multiple ethnicities relative to studies that exclusively focus on samples of European ancestry. In each of these simulations, a first phase of GWAS in exclusively European samples is followed by a second GWAS phase in any of the other populations (including a multiethnic design. We find that nontrivial power gains can be achieved by conducting future whole-genome studies in worldwide populations, where, in particular, African populations contribute the largest relative power gains for low-frequency alleles (<5% of moderate effect that suffer from low power in samples of European descent. Our results emphasize the importance of broadening genetic studies to worldwide populations to ensure efficient discovery of genetic loci contributing to phenotypic trait variability, especially for those traits for which large numbers of samples of European ancestry have already been collected and tested.

  8. Risk stratification in multiple myeloma, part 2: the significance of genetic risk factors in the era of currently available therapies.

    Science.gov (United States)

    Biran, Noa; Jagannath, Sundar; Chari, Ajai

    2013-01-01

    Multiple myeloma (MM) is a heterogeneous disease, and a variety of risk factors at the time of initial diagnosis can be used to stratify patients. In the first part of this 2-part series, we reviewed the currently identified prognostic factors, characterized by disease burden, host factors, tumor biology, and depth of response to therapy. However, these risk factors cannot be interpreted independently of therapies. Novel therapies have the potential to worsen or improve outcomes compared with conventional therapy in high-risk patients, or actually overcome the high-risk status, thereby resulting in reclassification as standard risk. For example, thalidomide (Thalomid, Celgene) is associated with worse outcomes in patients with high-risk cytogenetic abnormalities, such as deletion of chromosomes 13 and 17p, whereas proteasome inhibitors appear to overcome t(4;14). The second part of this series reviews the significance of various genetic risks in the era of novel therapies for MM.

  9. The genetics of alcoholism: identifying specific genes through family studies.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2006-09-01

    Alcoholism is a complex disorder with both genetic and environmental risk factors. Studies in humans have begun to elucidate the genetic underpinnings of the risk for alcoholism. Here we briefly review strategies for identifying individual genes in which variations affect the risk for alcoholism and related phenotypes, in the context of one large study that has successfully identified such genes. The Collaborative Study on the Genetics of Alcoholism (COGA) is a family-based study that has collected detailed phenotypic data on individuals in families with multiple alcoholic members. A genome-wide linkage approach led to the identification of chromosomal regions containing genes that influenced alcoholism risk and related phenotypes. Subsequently, single nucleotide polymorphisms (SNPs) were genotyped in positional candidate genes located within the linked chromosomal regions, and analyzed for association with these phenotypes. Using this sequential approach, COGA has detected association with GABRA2, CHRM2 and ADH4; these associations have all been replicated by other researchers. COGA has detected association to additional genes including GABRG3, TAS2R16, SNCA, OPRK1 and PDYN, results that are awaiting confirmation. These successes demonstrate that genes contributing to the risk for alcoholism can be reliably identified using human subjects.

  10. Mendelian randomization: genetic anchors for causal inference in epidemiological studies

    Science.gov (United States)

    Davey Smith, George; Hemani, Gibran

    2014-01-01

    Observational epidemiological studies are prone to confounding, reverse causation and various biases and have generated findings that have proved to be unreliable indicators of the causal effects of modifiable exposures on disease outcomes. Mendelian randomization (MR) is a method that utilizes genetic variants that are robustly associated with such modifiable exposures to generate more reliable evidence regarding which interventions should produce health benefits. The approach is being widely applied, and various ways to strengthen inference given the known potential limitations of MR are now available. Developments of MR, including two-sample MR, bidirectional MR, network MR, two-step MR, factorial MR and multiphenotype MR, are outlined in this review. The integration of genetic information into population-based epidemiological studies presents translational opportunities, which capitalize on the investment in genomic discovery research. PMID:25064373

  11. Current research projects on traffic conflicts technique studies.

    NARCIS (Netherlands)

    Hondel, M. van den & and Kraay, J.H.

    1979-01-01

    A review of current research concerning the development, evaluation and use of the traffic conflicts technique is presented. The 32 studies, selected from the IRRD data base, are listed alphabetically by names of countries and under countries by names of research organizations. The IRRD descriptions

  12. Subminiature eddy current transducers for studying boride coatings

    Science.gov (United States)

    Dmitriev, S. F.; Ishkov, A. V.; Malikov, V. N.; Sagalakov, A. M.

    2016-07-01

    Strengthening of parts and units of machines, increased reliability and longer service life is an important task of modern mechanical engineering. The main objects of study in the work were selected steel 65G and 50HGA, wear-resistant boride coatings ternary system Fe-B-Fe n B which were investigated by scanning electron microscopy and eddy-current nondestructive methods.

  13. A study of eddy current measurement (1986-1987)

    Energy Technology Data Exchange (ETDEWEB)

    Ramachandran, R.S.; Armstrong, K.P.

    1989-06-22

    A study was conducted in 1986 to evaluate a modified eddy current system for measuring copper thickness on Kapton. Results showed a measurement error of 0.42 {mu}in. for a thickness range of 165 to 170 {mu}in. and a measurement variability of 3.2 {mu}in.

  14. Cartography and Population Geography as Current Events: A Case Study

    Science.gov (United States)

    Comenetz, Joshua

    2003-01-01

    The Sanders housing lawsuit in Pennsylvania provides a case study of how to incorporate current events into the teaching of cartography or population geography at the high school or college level. Settlement of the Sanders case resulted in the release of information about the segregation of public housing by race in the Pittsburgh area. The issues…

  15. The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory.

    Science.gov (United States)

    Nishiyama, Miyuki; Sawai, Hideaki; Kosugi, Shinji

    2013-12-01

    Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p < 0.0001), university hospitals (p < 0.0001), and MD geneticists (p = 0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

  16. Unraveling the genetic etiology of adult antisocial behavior: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Jorim J Tielbeek

    Full Text Available Crime poses a major burden for society. The heterogeneous nature of criminal behavior makes it difficult to unravel its causes. Relatively little research has been conducted on the genetic influences of criminal behavior. The few twin and adoption studies that have been undertaken suggest that about half of the variance in antisocial behavior can be explained by genetic factors. In order to identify the specific common genetic variants underlying this behavior, we conduct the first genome-wide association study (GWAS on adult antisocial behavior. Our sample comprised a community sample of 4816 individuals who had completed a self-report questionnaire. No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10(-5 was DYRK1A, a gene previously related to abnormal brain development and mental retardation. Future studies should use larger, more homogeneous samples to disentangle the etiology of antisocial behavior. Biosocial criminological research allows a more empirically grounded understanding of criminal behavior, which could ultimately inform and improve current treatment strategies.

  17. [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].

    Science.gov (United States)

    Erranz, M Benjamín; Wilhelm, B Jan; Riquelme, V Raquel; Cruces, R Pablo

    2015-01-01

    Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  18. [The current status and outlook for molecular genetic methods in solving the tasks of medical microbiology].

    Science.gov (United States)

    Gintsburg, A L; Zigangirova, N A; Romanova, Iu M

    1999-01-01

    The article deals with modern methods, viz. PCR, molecular display and genotherapy, which permit the new approach to the solution of problems connected with the identification of infective agents, the study of the mechanisms of the pathogenesis of infectious diseases and their treatment. In this article concrete examples, clearly demonstrating how each of the above-mentioned technologies makes it possible to broaden the circle of problems solved in infectious pathology of man, are presented.

  19. [Citogenetic and molecular genetic studies in infertility in eastern Hungary].

    Science.gov (United States)

    Mokánszki, Attila; Ujfalusi, Anikó; Balogh, Erzsébet; Molnár, Zsuzsanna; Sápy, Tamás; Jakab, Attila; Varga, Attila; Oláh, Eva

    2013-01-13

    In developed countries 10-15% of the couples are affected by infertility. In half of them genetic factors can be identified. We studied genetic alterations in infertility in Hungarian patients. Cyogenetic analyses were performed in 195 females and 305 males. In 17 females FMR1 mutations, in 150 males Y microdeletions, and aneuploidy were studied in the sperm of 28 males. In a carrier male sperm meiotic segregation was studied. The most common aberrations in females were X chromosome aneuploidia and inversion (3.6%), while the same in males Klinefelter-syndrome (3.3%) and autosomal translocations (2%). In two females FMR1 premutation was found. While Y microdeletions were identified only in azoospermic and severe oligozoospermic men, partial microdeletions could also be detected in normozoospermic males. A higher aberration rate was found in cases with abnormality in both the number and motility of sperm. In a male patient with 46,XY,t(3;6)(q21;q23) karyotype, 53.2% of spem carried unbalanced chromosome assortment. Knowledge of abnormalities may help in genetic counseling and choosing the most effective reproduction technique.

  20. Molecular markers: a potential resource for ginger genetic diversity studies.

    Science.gov (United States)

    Ismail, Nor Asiah; Rafii, M Y; Mahmud, T M M; Hanafi, M M; Miah, Gous

    2016-12-01

    Ginger is an economically important and valuable plant around the world. Ginger is used as a food, spice, condiment, medicine and ornament. There is available information on biochemical aspects of ginger, but few studies have been reported on its molecular aspects. The main objective of this review is to accumulate the available molecular marker information and its application in diverse ginger studies. This review article was prepared by combing material from published articles and our own research. Molecular markers allow the identification and characterization of plant genotypes through direct access to hereditary material. In crop species, molecular markers are applied in different aspects and are useful in breeding programs. In ginger, molecular markers are commonly used to identify genetic variation and classify the relatedness among varieties, accessions, and species. Consequently, it provides important input in determining resourceful management strategies for ginger improvement programs. Alternatively, a molecular marker could function as a harmonizing tool for documenting species. This review highlights the application of molecular markers (isozyme, RAPD, AFLP, SSR, ISSR and others such as RFLP, SCAR, NBS and SNP) in genetic diversity studies of ginger species. Some insights on the advantages of the markers are discussed. The detection of genetic variation among promising cultivars of ginger has significance for ginger improvement programs. This update of recent literature will help researchers and students select the appropriate molecular markers for ginger-related research.

  1. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice

    Science.gov (United States)

    Ashtiani, Setareh; Makela, Nancy; Carrion, Prescilla; Austin, Jehannine

    2014-01-01

    Purpose Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. Methods We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified. Results 61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Conclusion Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. PMID:24706543

  2. Differential Thermostimulated Discharge Current Method for Studying Electrets

    Science.gov (United States)

    Mekishev, G. A.; Yovcheva, T. A.; Viraneva, A. P.; Gencheva, E. A.

    2010-01-01

    The thermostimulated discharge current method (TSDC) is widely used for the study of charge storage mechanisms in electrets. A new discharged technique, called differential, which consists in discharging a charged sample through an otherwise identical but uncharged one, has been proposed by J.-P. Reboul and A. Toureille. In the present paper a new version of the differential thermostimulated discharge current method is advanced. In contrast to the differential technique described earlier, the measuring cell allows to realize typical differential technique. In this case the measuring system records the difference of the thermostimulated currents of two samples which have been preliminary charged (or thermally treated) under the same or different conditions. Samples of 0.85 mm thick polymethylmethacrylate are used to demonstrate an operation of the developed differential TSDC method.

  3. Study on Fault Current of DFIG during Slight Fault Condition

    Directory of Open Access Journals (Sweden)

    Xiangping Kong

    2013-04-01

    Full Text Available In order to ensure the safety of DFIG when severe fault happens, crowbar protection is adopted. But during slight fault condition, the crowbar protection will not trip, and the DFIG is still excited by AC-DC-AC converter. In this condition, operation characteristics of the converter have large influence on the fault current characteristics of DFIG. By theoretical analysis and digital simulation, the fault current characteristics of DFIG during slight voltage dips are studied. And the influence of controller parameters of converter on the fault current characteristics is analyzed emphatically. It builds a basis for the construction of relay protection which is suitable for the power gird with accession of DFIG.

  4. Obesity, More than a 'Cosmetic' Problem. Current Knowledge and Future Prospects of Human Obesity Genetics.

    Science.gov (United States)

    Shabana; Hasnain, Shahida

    2016-02-01

    Obesity has been designated as a global epidemic by WHO as its prevalence has increased at an alarming rate in the last few decades worldwide. It is a risk factor for diabetes, hypertension, cardiovascular problems, etc. The contribution of genes to the development of obesity was confirmed in late twentieth century. The concept of monogenic obesity came with the identification of leptin, and mutations in its gene, followed by the discovery of more single gene mutations. However, the recent explosion of obesity could not be explained on the basis of these rare mutations and it was after the first genome-wide association study in 2007 that made possible the identification of different effect size variants in many candidate and non-candidate genes acting in a quantitative way to add to body weight. These studies laid down the basis for polygenic cause of common forms of obesity. The role of epigenetic regulation in the modulation of energy regulation pathway was another important explanation put forward in the latter half of the past decade. Taking into account the quantitative contribution of different variants has given the concept of obesity risk scoring in order to score individuals into different risk groups so as to decide for treatment options.

  5. Understanding invasion history and predicting invasive niches using genetic sequencing technology in Australia: case studies from Cucurbitaceae and Boraginaceae

    Science.gov (United States)

    Shaik, Razia S.; Zhu, Xiaocheng; Clements, David R.; Weston, Leslie A.

    2016-01-01

    Part of the challenge in dealing with invasive plant species is that they seldom represent a uniform, static entity. Often, an accurate understanding of the history of plant introduction and knowledge of the real levels of genetic diversity present in species and populations of importance is lacking. Currently, the role of genetic diversity in promoting the successful establishment of invasive plants is not well defined. Genetic profiling of invasive plants should enhance our understanding of the dynamics of colonization in the invaded range. Recent advances in DNA sequencing technology have greatly facilitated the rapid and complete assessment of plant population genetics. Here, we apply our current understanding of the genetics and ecophysiology of plant invasions to recent work on Australian plant invaders from the Cucurbitaceae and Boraginaceae. The Cucurbitaceae study showed that both prickly paddy melon (Cucumis myriocarpus) and camel melon (Citrullus lanatus) were represented by only a single genotype in Australia, implying that each was probably introduced as a single introduction event. In contrast, a third invasive melon, Citrullus colocynthis, possessed a moderate level of genetic diversity in Australia and was potentially introduced to the continent at least twice. The Boraginaceae study demonstrated the value of comparing two similar congeneric species; one, Echium plantagineum, is highly invasive and genetically diverse, whereas the other, Echium vulgare, exhibits less genetic diversity and occupies a more limited ecological niche. Sequence analysis provided precise identification of invasive plant species, as well as information on genetic diversity and phylogeographic history. Improved sequencing technologies will continue to allow greater resolution of genetic relationships among invasive plant populations, thereby potentially improving our ability to predict the impact of these relationships upon future spread and better manage invaders possessing

  6. Understanding invasion history and predicting invasive niches using genetic sequencing technology in Australia: case studies from Cucurbitaceae and Boraginaceae.

    Science.gov (United States)

    Shaik, Razia S; Zhu, Xiaocheng; Clements, David R; Weston, Leslie A

    2016-01-01

    Part of the challenge in dealing with invasive plant species is that they seldom represent a uniform, static entity. Often, an accurate understanding of the history of plant introduction and knowledge of the real levels of genetic diversity present in species and populations of importance is lacking. Currently, the role of genetic diversity in promoting the successful establishment of invasive plants is not well defined. Genetic profiling of invasive plants should enhance our understanding of the dynamics of colonization in the invaded range. Recent advances in DNA sequencing technology have greatly facilitated the rapid and complete assessment of plant population genetics. Here, we apply our current understanding of the genetics and ecophysiology of plant invasions to recent work on Australian plant invaders from the Cucurbitaceae and Boraginaceae. The Cucurbitaceae study showed that both prickly paddy melon (Cucumis myriocarpus) and camel melon (Citrullus lanatus) were represented by only a single genotype in Australia, implying that each was probably introduced as a single introduction event. In contrast, a third invasive melon, Citrullus colocynthis, possessed a moderate level of genetic diversity in Australia and was potentially introduced to the continent at least twice. The Boraginaceae study demonstrated the value of comparing two similar congeneric species; one, Echium plantagineum, is highly invasive and genetically diverse, whereas the other, Echium vulgare, exhibits less genetic diversity and occupies a more limited ecological niche. Sequence analysis provided precise identification of invasive plant species, as well as information on genetic diversity and phylogeographic history. Improved sequencing technologies will continue to allow greater resolution of genetic relationships among invasive plant populations, thereby potentially improving our ability to predict the impact of these relationships upon future spread and better manage invaders possessing

  7. Genetic studies in mungbean (Vigna radiata (L. Wilczek

    Directory of Open Access Journals (Sweden)

    S. Suresh, S. Jebaraj, S.Juliet Hepziba and M.Theradimani

    2010-12-01

    Full Text Available A study was carried out in mungbean Vigna radiata (L. Wilczek with eight ‘lines’ and four ‘testers’ crossed in a Line x Tester design toestimate mean, range, genotypic and phenotypic coefficients of variation, heritability and genetic advance for 13 trait viz., days to 50 %flowering, days to maturity, plant height, number of branches per plant, number of clusters per plant, number of pods per cluster, number of podsper plant, pod length, number of seeds per pod, 100 seed weight, harvest index, protein content and single plant yield. High heritability coupledwith high genetic advance as per cent of mean were observed for plant height, number of branches per plant, number of clusters per plant, numberof pods per cluster, number of pods per plant, 100 seed weight, harvest index and single plant yield confirming the additive gene action.

  8. Molecular mechanisms in atopic eczema: insights gained from genetic studies.

    Science.gov (United States)

    Brown, Sara J

    2017-01-01

    Atopic eczema (synonymous with atopic dermatitis) is a common heterogeneous phenotype with a wide spectrum of severity, from mild transient disease to a severe chronic disorder with atopic and non-atopic comorbidities. Eczema is a complex trait, resulting from the interaction of multiple genetic and environmental factors. The skin, as an organ that can be biopsied easily, provides opportunities for detailed molecular genetic analysis. Strategies applied to the investigation of atopic eczema include candidate gene and genome-wide studies, extreme phenotypes, and comparative analysis of inflammatory skin diseases. Genetic studies have identified a central role for skin barrier impairment in eczema predisposition and perpetuation; this has brought about a paradigm shift in understanding atopic disease, but specific molecular targets to improve skin barrier function remain elusive. The role of Th2-mediated immune dysfunction is also central to atopic inflammation, and has proved to be a powerful target for biological therapy in atopic eczema. Advances in understanding eczema pathogenesis have provided opportunities for patient stratification, primary prevention, and therapy development, but there remain considerable challenges in the application of this knowledge to optimize benefit for patients with atopic eczema in the era of personalized medicine. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  9. AN EPIDEMIOLOGY AND MOLECULAR GENETIC STUDY ON BREAST CANCER SUSCEPTIBILITY

    Institute of Scientific and Technical Information of China (English)

    贾卫华; 王继先; 李本孝; 李征

    2000-01-01

    Objectives. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-based case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model and stratification methods were used in the risk factors analysis. Li-Mantel art and Falconer methods were used to analyze the segregation ratio and heritability. Polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis were used to detect AI, G-banding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results. Family history of breast cancer is related to enhanced breast cancer risk significartly, OR is 3.905 ( 95 % CI = 1.079 ~ 14.13), and it widely interacts with other risk factors. Accumulative incidence of breast cancer in first degree relatives is 9.99%, which is larger than that in second, third degree and non-blood relatives. Segregation ratio is 0.021, heritability among first degree relatives is 35.6 ± 5.8%. Frequencies of LOH at BRCA1 and BRCA2 loci in sporadic breast cancer are 6.12% and 5.77% respectively. In the sibs, both of them show LOH at D13S173 locus, and high frequencies of chromosome aberrations were observed. Conclusions. Genetic susceptibility contributes to breast cancer occurrence of Chinese, and its racial variation may be one of the important reasons for the large difference of incidence between western and eastern countries.

  10. AN EPIDEMIOLOGY AND MOLECULAR GENETIC STUDY ON BREAST CANCER SUSCEPTIBILITY

    Institute of Scientific and Technical Information of China (English)

    贾卫华; 王继先; 李本孝; 李征

    2000-01-01

    Obieaites. To investigate the genetic susceptibility for breast cancer of Chinese, a hospital-besed case-control study, pedigree survey and molecular genetic study were conducted. Methods. Logistic regression model and stratification methods were used in the risk factors analysis. Li-Mantel-Gart and Falconer methods were used to analyze the segregation ratio and heritability. Polymemse chain reaction (PCR) and polyacrylamide gel electrophoresis were used to detect AI, G-banding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results. Family history of breast cancer is related to enhanced breast cancer risk significantly, OR is 3.905(95% CI = 1.079—14.13), and it widely interacts with other risk factors. Accumulative incidence of breast cancer in first degree relatives is 9.99%, which is larger than that in second, third degree and non-blnod relatives. Segregation ratio is 0.021, heritability among first degree relatives is 35.6 ± 5.8%. Frequencies of LDH at BRCA1 and BRCA2 loci in sporadic breast cancer are 6.12% and 5.77% respectively. In the sibs, both of them show LOH at D13S173 locus, and high frequencies of chromosome abermtions were observed.Condusions. Genetic susceptibility contributes to breast cancer occurrence of Chinese, and its racial variation may be one of the important reasons for the large difference of incidence between western and eastern countries.

  11. Optimization of total harmonic current distortion and torque pulsation reduction in high-power induction motors using genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    Arash SAYYAH; Mitra AFLAK; Alireza REZAZADEH

    2008-01-01

    This paper presents a powerful application of genetic algorithm (GA) for the minimization of the total harmonic current distortion (THCD) in high-power induction motors fed by voltage source inverters,based on an approximate harmonic model. That is,having defined a desired fundamental output voltage,optimal pulse patterns (switching angles) are determined to produce the fundamental output voltage while minimizing the THCD. The complete results for the two cases of three and five switching instants in the first quarter period of pulse width modulation (PWM) waveform are presented. Presence of harmonics in the stator excitation leads to a pulsing-torque component. Considering the fact that if the pulsing-torques are at low frequencies,they can cause troublesome speed fluctuations,shaft fatigue,and unsatisfactory performance in the feedback control system,the 5th,7th,11 th,and 13th current harmonics (in the case of five switching angles) are con strained at some pre-specified values,to mitigate the detrimental effects of low-frequency harmonics. At the same time,the THCD is optimized while the required fun-damental output voltage is maintained.

  12. Genetic diversity and bottleneck studies in the Marwari horse breed

    Indian Academy of Sciences (India)

    A. K. Gupta; M. Chauhan; S. N. Tandon; Sonia

    2005-12-01

    Genetic diversity within the Marwari breed of horses was evaluated using 26 different microsatellite pairs with 48 DNA samples from unrelated horses. This molecular characterisation was undertaken to evaluate the problem of genetic bottlenecks also, if any, in this breed. The estimated mean (± s.e.) allelic diversity was 5.9 (± 2.24), with a total of 133 alleles. A high level of genetic variability within this breed was observed in terms of high values of mean (± s.e.) effective number of alleles (3.3 ± 1.27), observed heterozygosity (0.5306 ± 0.22), expected Levene’s heterozygosity (0.6612 ± 0.15), expected Nei’s heterozygosity (0.6535 ± 0.14), and polymorphism information content (0.6120 ± 0.03). Low values of Wright’s fixation index, $F_{\\text{IS}}$ (0.2433 ± 0.05) indicated low levels of inbreeding. This basic study indicated the existence of substantial genetic diversity in the Marwari horse population. No significant genotypic linkage disequilibrium was detected across the population, suggesting no evidence of linkage between loci. A normal ‘L’ shaped distribution of mode–shift test, non-significant heterozygote excess on the basis of different models, as revealed from Sign, Standardized differences and Wilcoxon sign rank tests as well as non-significant ratio value suggested that there was no recent bottleneck in the existing Marwari breed population, which is important information for equine breeders. This study also revealed that the Marwari breed can be differentiated from some other exotic breeds of horses on the basis of three microsatellite primers.

  13. [Molecular genetics methods in the study of hereditary essential hypertension].

    Science.gov (United States)

    Jindra, A; Horký, K

    1998-01-26

    The main task in hypertension research is to explain genetic causes of a raised blood pressure. It is anticipated that advances in this area will promote not only a better understanding of the pathophysiology of hypertension but will make a more aimed approach to early diagnosis, prevention and therapy of essential hypertension possible. The greatest problems in investigations of the heredity of hypertension are; a) in cardiovascular control mechanisms several genes participate; b) factors of the external environment which act on a long-term basis interfere with the relationship of the genotype and phenotype individually, within the family and regionally; c) the blood pressure is a continuous variable and the definition of the phenotype of hypertension is inaccurate; d) inadequate number of family members where hypertension segregates. New methods in molecular biology and statistical genetics made it possible to assess a number of highly polymorphous genetic signs in several candidate genes and the subsequent investigation of their possible role in the pathogenesis of hypertension. The majority of hitherto accomplished studies was concentrated on genes coding different components of the renin-angiotensin system: renin, ACE, angiotensinogen and angiotensin II receptors. So far the most promising, though not consistent, results were obtained for angiotensinogen and the insulin receptor. Work focused on the relationship of the polymorphism of genes for ANF, growth hormone and kallikrein to essential hypertension is negative. The genetic heterogeneity of the human population, physiological differences in the genesis of high blood pressure in different ethnical groups and inaccurate measurements of specific phenotypes can contribute to different results of different studies.

  14. Experimental Study on Current Decay Characteristics of Persistent Current HTS Magnet by Alternating Magnetic Field

    Science.gov (United States)

    Park, Young Gun; Lee, Chang Young; Hwang, Young Jin; Lee, Woo Seung; Lee, Jiho; Jo, Hyun Chul; Chung, Yoon Do; Ko, Tae Kuk

    This paper deals with a current decay characteristics of a high temperature superconducting (HTS) magnet operated in persistent current mode (PCM). In superconducting synchronous machine applications such as linear synchronous motor (LSM), the superconducting coil is designed to operate in the PCM to obtain steady magnetic field with DC transport current. This superconducting magnet operates on a direct current, but it can be exposed to alternating magnetic field due to the armature winding. When the magnet is subjected to an external time-varying magnetic field, it is possible to result in a decay of the current in PCM system due to AC loss. In this research, a PCM system with armature coil which generates time-varying magnetic field was fabricated to verify current decay characteristics by external alternating magnetic field. The current decay rate was measured by using a hall sensor as functions of amplitude and frequency of armature coil.

  15. Aquaculture genomics, genetics and breeding in the United States: Current status, challenges, and priorities for future research

    Science.gov (United States)

    Advancing the production efficiency and profitability of aquaculture is dependent upon the ability to utilize a diverse array of genetic resources. The ultimate goals of aquaculture genomics, genetics and breeding research are to enhance aquaculture production efficiency, sustainability, product qua...

  16. The Power of Mouse Genetics to Review Study Spermatogenesis

    Science.gov (United States)

    YATSENKO, A. N.; IWAMORI, N.; IWAMORI, T.; MATZUK, M. M.

    2010-01-01

    Approximately 80 million people worldwide are infertile, and nearly half of all infertility cases are attributed to a male factor. Therefore, progress in reproductive genetics becomes crucial for future diagnosis and treatment of infertility. In recent years, enormous progress has been made in this field. More than 400 mutant mouse models with specific reproductive abnormalities have been produced, and numerous human association studies have been discovered. However, the translation of basic science findings to clinical practice remains protracted, with only modest progress in the application of novel findings to clinical genetic testing and cures. To date, the most significant findings in male infertility remain numeric and structural chromosomal abnormalities and Y-chromosome microdeletions in infertile men. Thus, we anticipate that future genetic investigations will focus on infertile men with a normal somatic karyotype but with various spermatozoal defects, like insufficient production of spermatozoa (oligozoospermia), inadequate motility (asthenozoospermia), abnormal morphology (teratozoospermia), or combinations of these defects. Ultimately, basic advances in mammalian nonhuman reproduction will translate to clinical advances in human reproduction and testing for infertile humans, thereby helping to improve diagnostics and health care for infertile patients. PMID:19875488

  17. Pearls and pitfalls in genetic studies of migraine.

    Science.gov (United States)

    Eising, Else; de Vries, Boukje; Ferrari, Michel D; Terwindt, Gisela M; van den Maagdenberg, Arn M J M

    2013-06-01

    Migraine is a prevalent neurovascular brain disorder with a strong genetic component, and different methodological approaches have been implemented to identify the genes involved. This review focuses on pearls and pitfalls of these approaches and genetic findings in migraine. Common forms of migraine (i.e. migraine with and without aura) are thought to have a polygenic make-up, whereas rare familial hemiplegic migraine (FHM) presents with a monogenic pattern of inheritance. Until a few years ago only studies in FHM yielded causal genes, which were identified by a classical linkage analysis approach. Functional analyses of FHM gene mutations in cellular and transgenic animal models suggest abnormal glutamatergic neurotransmission as a possible key disease mechanism. Recently, a number of genes were discovered for the common forms of migraine using a genome-wide association (GWA) approach, which sheds first light on the pathophysiological mechanisms involved. Novel technological strategies such as next-generation sequencing, which can be implemented in future genetic migraine research, may aid the identification of novel FHM genes and promote the search for the missing heritability of common migraine.

  18. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  19. Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

    Science.gov (United States)

    Wertheim-Tysarowska, Katarzyna; Gos, Monika; Sykut-Cegielska, Jolanta; Bal, Jerzy

    2015-01-01

    Inherited metabolic disorders, also referred to as inborn errors of metabolism (IEM), are a group of congenital disorders caused by mutation in genomic or mitochondrial DNA. IEM are mostly rare disorders with incidence ranging from 1/50,000-1/150,000), however in total IEM may affect even 1/1000 people. A particular mutation affects specific protein or enzyme that improper function leads to alterations in specific metabolic pathway. Inborn errors of metabolism are monogenic disorders that can be inherited in autosomal recessive manner or, less frequently, in autosomal dominant or X-linked patterns. Some exceptions to Mendelian rules of inheritance have also been described. Vast majority of mutations responsible for IEM are small DNA changes affecting single or several nucleotides, although larger rearrangements were also identified. Therefore, the methods used for the identification of pathogenic mutations are mainly based on molecular techniques, preferably on Sanger sequencing. Moreover, the next generation sequencing technique seems to be another prospective method that can be successfully implemented for the diagnosis of inborn errors of metabolism. The identification of the genetic defect underlying the disease is not only indispensable for genetic counseling, but also might be necessary to apply appropriate treatment to the patient. Therapeutic strategies for IEM are continuously elaborated and tested (eg. enzyme replacement therapy, specific cells or organ transplantation or gene therapy, both in vivo and ex vivo) and have already been implemented for several disorders. In this article we present current knowledge about various aspects of IEM on the basis of our own experience and literature review.

  20. Current methods for studying dynamic processes in the ionosphere

    Science.gov (United States)

    Filipp, Nikolai D.; Blaunshtein, Natan Sh.; Erukhimov, Lev M.; Ivanov, Vladimir A.; Uriadov, Valerii P.

    Current experimental and theoretical data relevant to the study of dynamic processes in the ionospheric plasma using state-of-the-art methods are summarized. The methods used include linear FM sounding, partial radio wave reflection, oblique-incidence radio wave scattering, radio wave heating of the ionosphere, plasma injection, and computer simulation of physical processes. For each specific method, experimental data are compared against theoretical predictions and numerical calculations.

  1. Pancreatic exocrine studies in intact animals: historic and current methods.

    Science.gov (United States)

    Niebergall-Roth, E; Teyssen, S; Singer, M V

    1997-12-01

    This report presents a review of the historic and current methods for performing pancreatic exocrine studies in intact animals. Special emphasis is given to the various surgical procedures--pancreatic fistulas, duodenal pouches, and duodenal fistulas--and practice of collecting pancreatic secretion in dogs. Procedures in other animal species--rat, cat, pig, rabbit, cattle, sheep, and horse--also are specified. The advantages and disadvantages, as well as the indications and limitations of the distinct methods, are discussed.

  2. Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study.

    Science.gov (United States)

    Fesinmeyer, Megan D; North, Kari E; Lim, Unhee; Bůžková, Petra; Crawford, Dana C; Haessler, Jeffrey; Gross, Myron D; Fowke, Jay H; Goodloe, Robert; Love, Shelley-Ann; Graff, Misa; Carlson, Christopher S; Kuller, Lewis H; Matise, Tara C; Hong, Ching-Ping; Henderson, Brian E; Allen, Melissa; Rohde, Rebecca R; Mayo, Ping; Schnetz-Boutaud, Nathalie; Monroe, Kristine R; Ritchie, Marylyn D; Prentice, Ross L; Kolonel, Lawrence N; Manson, JoAnn E; Pankow, James; Hindorff, Lucia A; Franceschini, Nora; Wilkens, Lynne R; Haiman, Christopher A; Le Marchand, Loic; Peters, Ulrike

    2013-01-11

    Although smoking behavior is known to affect body mass index (BMI), the potential for smoking to influence genetic associations with BMI is largely unexplored. As part of the 'Population Architecture using Genomics and Epidemiology (PAGE)' Consortium, we investigated interaction between genetic risk factors associated with BMI and smoking for 10 single nucleotide polymorphisms (SNPs) previously identified in genome-wide association studies. We included 6 studies with a total of 56,466 subjects (16,750 African Americans (AA) and 39,716 European Americans (EA)). We assessed effect modification by testing an interaction term for each SNP and smoking (current vs. former/never) in the linear regression and by stratified analyses. We did not observe strong evidence for interactions and only observed two interactions with p-values smoking status may modify genetic effects of previously identified genetic risk factors for BMI. Larger studies are needed to follow up our results. NCT00000611.

  3. Mouse models for studying genetic influences on factors determining smoking cessation success in humans

    Science.gov (United States)

    Hall, F. Scott; Markou, Athina; Levin, Edward D.; Uhl, George R.

    2014-01-01

    Humans differ in their ability to quit using addictive substances, including nicotine, the major psychoactive ingredient in tobacco. For tobacco smoking, a substantial body of evidence, largely derived from twin studies, indicates that approximately half of these individual differences in ability to quit are heritable [1, 2], genetic influences that likely overlap with those for other addictive substances [3]. Both twin and molecular genetic studies support overlapping influences on nicotine addiction vulnerability and smoking cessation success, although there is little formal analysis of the twin data that supports this important point [2, 3]. None of the current datasets provides clear data concerning which heritable factors might provide robust dimensions around which individuals differ in ability to quit smoking. One approach to this problem is to test mice with genetic variations in genes that contain human variants that alter quit-success. This review considers which features of quit success should be included in a comprehensive approach to elucidating the genetics of quit success, and how those features may be modeled in mice. PMID:22304675

  4. Microsatellite based genetic diversity study in indigenous chicken ecotypes of Karnataka

    Directory of Open Access Journals (Sweden)

    B. H. Rudresh

    2015-08-01

    Full Text Available Aim: The current study was the first of its kind taken upon indigenous ecotypes of the Karnataka in order to unravel the diversity details at 20 chicken microsatellite regions. Materials and Methods: 210 indigenous chicken belonging to six districts of Bangalore and Mysore division formed the target sample for the present study. The genomic deoxyribonucleic acid was isolated by phenol chloroform isoamyl alcohol method. A panel of 20 microsatellite regions, including 14 recommended by FAO and six identified from published scientific literature became the targeted chicken genomic region. 27-33 samples were successfully genotyped in each of the six ecotypes through simplex or multiplex polymerase chain reactions, polyacrylamide gel electrophoresis and silver staining for the selected microsatellite panel. Results: The chickens of Ramanagara and Chamrajnagara were most distant with a Nei’s genetic distance value of 0.22. The chickens of Bangalore rural and Mysore were least distant with a value of 0.056. The Ramanagara and Chamrajnagara pair had Nei’s genetic identity value of 0.802, which is least among all pairs of ecotypes. There were five main nodes from which the six ecotypes evolved on the basis 20 microsatellite markers used in this study. This study indicates that the four ecotypes Ramnagara, Bangalore Rural, Chickaballapura and Mysore are genetically identical due to their common ancestral evolution while, Mandya and Chamrajnagara ecotypes formed a relatively different cluster due to a separate common ancestral chicken population and less number of generations since drifting from bifurcation node. Conclusion: Twenty microsatellite markers based genetic diversity study on six indigenous ecotypes indicated lower genetic distances as well as lower FST values compared to the distinguished breeds reported. There were two main clusters, which differentiated into six ecotypes. They may differentiate into more distinct varieties if bred in

  5. Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

    Science.gov (United States)

    Berbegall, A P; Villamón, E; Piqueras, M; Tadeo, I; Djos, A; Ambros, P F; Martinsson, T; Ambros, I M; Cañete, A; Castel, V; Navarro, S; Noguera, R

    2016-03-17

    Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumors when analyzing different pieces for each case. For chromosome 2, 16 cases showed 2p intact, 4 focal gain at 2p24.3 and 8 MNA. The lengths of the smallest regions of overlap (SROs) for 2p gains and 1p deletions were between the SRO lengths observed in homMNA and nonMNA w11q- tumors. Co-occurrence of 11q- and +17q was frequently found with the largest SROs for both aberrations. The evidence for and frequency of different genetic subpopulations representing a hallmark of the hetMNA subgroup of NB indicates, on one hand, the presence of a considerable genetic instability with different SRO of either gains and losses compared with those of the other NB groups and highlights and, on the other hand, the need for multiple sampling from distant and macroscopically and microscopically distinct tumor areas. Narrowing down the different SRO for both deletions and gains in NB groups would be crucial to pinpointing the candidate gene(s) and the critical gene dosage with prognostic and therapeutic significance. This complexity of segmental chromosomal aberration patterns reinforces the necessity for a larger cohort study using FISH and pangenomic techniques to develop a suitable therapeutic strategy for these patients.

  6. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study

    Directory of Open Access Journals (Sweden)

    A. N. Diaz-Lacava

    2015-01-01

    Full Text Available Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n=728. Genetic heterogeneity was evaluated with observed heterozygosity (HO. Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher HO values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data.

  7. Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.

    Science.gov (United States)

    Hjörleifsson, Stefán; Schei, Edvin

    2006-07-01

    Technology development in human genetics is fraught with uncertainty, controversy and unresolved moral issues, and industry scientists are sometimes accused of neglecting the implications of their work. The present study was carried out to elicit industry scientists' reflections on the relationship between commercial, scientific and ethical dimensions of present day genetics and the resources needed for robust governance of new technologies. Interviewing scientists of the company deCODE genetics in Iceland, we found that in spite of optimism, the informants revealed ambiguity and uncertainty concerning the use of human genetic technologies for the prevention of common diseases. They concurred that uncritical marketing of scientific success might cause exaggerated public expectations of health benefits from genetics, with the risk of backfiring and causing resistance to genetics in the population. On the other hand, the scientists did not address dilemmas arising from the commercial nature of their own employer. Although the scientists tended to describe public fear as irrational, they identified issues where scepticism might be well founded and explored examples where they, despite expert knowledge, held ambiguous or tentative personal views on the use of predictive genetic technologies. The rationality of science was not seen as sufficient to ensure beneficial governance of new technologies. The reflexivity and suspension of judgement demonstrated in the interviews exemplify productive features of moral deliberation in complex situations. Scientists should take part in dialogues concerning the governance of genetic technologies, acknowledge any vested interests, and use their expertise to highlight, not conceal the technical and moral complexity involved.

  8. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

    Science.gov (United States)

    Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

    2016-01-01

    Summary Background Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34 819 patients (19 713 with Crohn's disease, 14 683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype–phenotype associations across 156 154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. Findings After quality control, the primary analysis included 29 838 patients (16 902 with Crohn's disease, 12 597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for

  9. Genetic overlap between impulsivity and alcohol dependence: a large-scale national twin study.

    Science.gov (United States)

    Khemiri, L; Kuja-Halkola, R; Larsson, H; Jayaram-Lindström, N

    2016-04-01

    Alcohol dependence is associated with increased levels of impulsivity, but the genetic and environmental underpinnings of this overlap remain unclear. The purpose of the current study was to investigate the degree to which genetic and environmental factors contribute to the overlap between alcohol dependence and impulsivity. Univariate and bivariate twin model fitting was conducted for alcohol dependence and impulsivity in a national sample of 16 819 twins born in Sweden from 1959 to 1985. The heritability estimate for alcohol dependence was 44% [95% confidence interval (CI) 31-57%] for males and 62% (95% CI 52-72%) for females. For impulsivity, the heritability was 33% (95% CI 30-36%) in males and females. The bivariate twin analysis indicated a statistically significant genetic correlation between alcohol dependence and impulsivity of 0.40 (95% CI 0.23-0.58) in males and 0.20 (95% CI 0.07-0.33) in females. The phenotypic correlation between alcohol dependence and impulsivity was 0.20 and 0.17 for males and females, respectively, and the bivariate heritability was 80% (95% CI 47-117%) for males and 53% (95% CI 19-86%) for females. The remaining variance in all models was accounted for by non-shared environmental factors. The association between alcohol dependence and impulsivity can be partially accounted for by shared genetic factors. The genetic correlation was greater in men compared with women, which may indicate different pathways to the development of alcohol dependence between sexes. The observed genetic overlap has clinical implications regarding treatment and prevention, and partially explains the substantial co-morbidity between alcohol dependence and psychiatric disorders characterized by impulsive behaviour.

  10. DCD and ADHD: a genetic study of their shared aetiology.

    Science.gov (United States)

    Martin, Neilson C; Piek, Jan P; Hay, David

    2006-02-01

    Previous studies have found that rates of attention deficit hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) are very similar, both being approximately 7% in sample populations [Kadesjö, B., & Gillberg, C. (1999). Developmental coordination disorder in Swedish 7-year-old children. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 820-828; Milberger, S., Faraone, S., Biederman, J., Testa, M., & Tsuang, M. (1996). New phenotype definition of attention deficit hyperactivity disorder in relatives for genetic analyses. American Journal of Medical Genetics, 67, 369-377]. The rate of comorbidity between the two has been found to be close to 50% [Barkley, R. (1990). Attention deficit hyperactivity disorder: A handbook for diagnosis and treatment. New York: Guilford Press]. Investigations into the comorbidity of the disorders points to a shared aetiology between them. The aim of the present investigation was to examine the extent to which the shared aetiology is due to common genetic factors to both disorders. We also investigated whether particular subtypes of each disorder were more linked than others. Mailed questionnaires were completed by parents (predominantly mothers) of 1285 twin pairs aged 5 and 16 years from the volunteer Australian Twin Registry (ATR). Included were a DSM-IV-based ADHD form, the alternative SWAN (Strengths and Weaknesses of ADHD Symptoms and Normal Behaviour scale) and the Developmental Coordination Disorder Questionnaire (DCDQ). Statistical analyses including structural equation modelling were carried out to explore the genetic factors of both disorders. The modelling showed a strong shared additive genetic component between most subtypes of ADHD and DCD to the subtypes of the other disorder. Analyses comparing the two ADHD measures showed an overlap of the symptoms captured by each measure but also significant differences. The DCD-fine motor and ADHD-Inattentive were most strongly linked using

  11. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    Science.gov (United States)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.

  12. Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.

    Directory of Open Access Journals (Sweden)

    Nicole A Restrepo

    Full Text Available Electronic medical records (EMRs are being widely implemented for use in genetic and genomic studies. As a phenotypic rich resource, EMRs provide researchers with the opportunity to identify disease cohorts and perform genotype-phenotype association studies. The Epidemiologic Architecture for Genes Linked to Environment (EAGLE study, as part of the Population Architecture using Genomics and Epidemiology (PAGE I study, has genotyped more than 15,000 individuals of diverse genetic ancestry in BioVU, the Vanderbilt University Medical Center's biorepository linked to a de-identified version of the EMR (EAGLE BioVU. Here we develop and deploy an algorithm utilizing data mining techniques to identify primary open-angle glaucoma (POAG in African Americans from EAGLE BioVU for genetic association studies. The algorithm described here was designed using a combination of diagnostic codes, current procedural terminology billing codes, and free text searches to identify POAG status in situations where gold-standard digital photography cannot be accessed. The case algorithm identified 267 potential POAG subjects but underperformed after manual review with a positive predictive value of 51.6% and an accuracy of 76.3%. The control algorithm identified controls with a negative predictive value of 98.3%. Although the case algorithm requires more downstream manual review for use in large-scale studies, it provides a basis by which to extract a specific clinical subtype of glaucoma from EMRs in the absence of digital photographs.

  13. 77 FR 66851 - Submission for OMB Review; Comment Request The Sister Study: A Prospective Study of the Genetic...

    Science.gov (United States)

    2012-11-07

    ...: A Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer SUMMARY: Under... Collection: Title: The Sister Study: A Prospective Study of the Genetic and Environmental Risk Factors for...: This is to continue the Phase II follow-up of the Sister Study -- a study of genetic and...

  14. 77 FR 48993 - Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and...

    Science.gov (United States)

    2012-08-15

    ... Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and... Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer. Type of Information...-up of the Sister Study--a study of genetic and environmental risk factors for the development...

  15. A genetic study of the human low-voltage electroencephalogram.

    Science.gov (United States)

    Anokhin, A; Steinlein, O; Fischer, C; Mao, Y; Vogt, P; Schalt, E; Vogel, F

    1992-01-01

    The studied phenotype, the low-voltage electroencephalogram (LVEEG), is characterized by the absence of an alpha rhythm from the resting EEG. In previous studies, evidence was found for a simple autosomal-dominant mode of inheritance of the LVEEG. Such a polymorphism in brain function can be used as a research model for the stepwise elucidation of the molecular mechanism involved in those aspects of neuronal activity that are reflected in the EEG. Linkage with the variable number of tandem repeats (VNTR) marker CMM6 (D20S19) and localization of an LVEEG (EEGV1) gene on 20q have previously been reported, and genetic heterogeneity has been demonstrated. This latter result has been corroborated by studying new marker (MS214). The phenotype of the LVEEG is described here in greater detail. Its main characteristic is the absence of rhythmic alpha activity, especially in occipital leads, whereas other wave forms such as beta or theta waves may be present. Analysis of 17 new families (some of them large), together with 60 previously described nuclear families, supports the genetic hypothesis of an autosomal-dominant mode of inheritance. Problems connected with the analysis of linkage heterogeneity, exclusion mapping, and the study of multipoint linkage are discussed. A possible explanation of the localization of LVEEG in the close vicinity of another gene influencing synchronization of the normal EEG, the gene for benign neonatal epilepsie, is given.

  16. A reverse genetics approach to study feline infectious peritonitis.

    Science.gov (United States)

    Tekes, Gergely; Spies, Danica; Bank-Wolf, Barbara; Thiel, Volker; Thiel, Heinz-Jürgen

    2012-06-01

    Feline infectious peritonitis (FIP) is a lethal immunopathological disease caused by feline coronaviruses (FCoVs). Here, we describe a reverse genetics approach to study FIP by assessing the pathogenicity of recombinant type I and type II and chimeric type I/type II FCoVs. All recombinant FCoVs established productive infection in cats, and recombinant type II FCoV (strain 79-1146) induced FIP. Virus sequence analyses from FIP-diseased cats revealed that the 3c gene stop codon of strain 79-1146 has changed to restore a full-length open reading frame (ORF).

  17. Pharmacogenomics Bias - Systematic distortion of study results by genetic heterogeneity

    Directory of Open Access Journals (Sweden)

    Zietemann, Vera

    2008-04-01

    Full Text Available Background: Decision analyses of drug treatments in chronic diseases require modeling the progression of disease and treatment response beyond the time horizon of clinical or epidemiological studies. In many such models, progression and drug effect have been applied uniformly to all patients; heterogeneity in progression, including pharmacogenomic effects, has been ignored. Objective: We sought to systematically evaluate the existence, direction and relative magnitude of a pharmacogenomics bias (PGX-Bias resulting from failure to adjust for genetic heterogeneity in both treatment response (HT and heterogeneity in progression of disease (HP in decision-analytic studies based on clinical study data. Methods: We performed a systematic literature search in electronic databases for studies regarding the effect of genetic heterogeneity on the validity of study results. Included studies have been summarized in evidence tables. In the case of lacking evidence from published studies we sought to perform our own simulation considering both HT and HP. We constructed two simple Markov models with three basic health states (early-stage disease, late-stage disease, dead, one adjusting and the other not adjusting for genetic heterogeneity. Adjustment was done by creating different disease states for presence (G+ and absence (G- of a dichotomous genetic factor. We compared the life expectancy gains attributable to treatment resulting from both models and defined pharmacogenomics bias as percent deviation of treatment-related life expectancy gains in the unadjusted model from those in the adjusted model. We calculated the bias as a function of underlying model parameters to create generic results. We then applied our model to lipid-lowering therapy with pravastatin in patients with coronary atherosclerosis, incorporating the influence of two TaqIB polymorphism variants (B1 and B2 on progression and drug efficacy as reported in the DNA substudy of the REGRESS

  18. Current Opinions on the Functions of Tocopherol Based on the Genetic Manipulation of Tocopherol Biosynthesis in Plants

    Institute of Scientific and Technical Information of China (English)

    Yin Li; Zinan Wang; Xiaofen Sun; Kexuan Tang

    2008-01-01

    As a member of an important group of lipid soluble antioxidants,tocopherols play a paramount role In the daily diet of humans and animals.Recently,genes required for tocochromanol biosynthesis pathway have been identified and cloned with the help of genomics-based approaches and molecular manipulation in the model organisms: Arabidopsis thaliana and Synechocystis sp.PCC 6803.At the basis of these foundations,genetic manipulation of tocochromanol biosynthesis pathway can give rise to strategies that enhance the level of tocochromanol content or convert the constitution of tocochromanol.In addition,genetic manipulations of the tocochromanol biosynthesis pathway provide help for the study of the function of tocopherol in plant systems.The present article summarizes recent advances and pays special attention to the functions of tocopherol in plants.The roles of tocopherol in the network of reactive oxygen species,antioxidants and phytohormones to maintain redox homeostasis and the functions of tocopherol as a signal molecule in chloroplast-to-nucleus signaling to regulate carbohydrate metabolism are also discussed.

  19. [Current Status of Genetic Diagnosis of Charcot-Marie-Tooth Disease: Variety of the Disease-causing Genes].

    Science.gov (United States)

    Hashiguchi, Akihiro; Higuchi, Yujiro; Takashima, Hiroshi

    2016-01-01

    At least 40 genes have been associated with Charcot-Marie-Tooth disease (CMT) and the related inherited neuropathies. Genetic studies have revealed the following factors as causes of inherited neuropathies: myelin components, transcription factors for myelination, myelin maintenance systems, differentiation factors of the peripheral nerve, neurofilaments, protein transfer systems, mitochondrial proteins, DNA repair, RNA/protein synthesis, ion channels, and aminoacyl-tRNA synthetases. Since 2007, we have tried to screen for mutations in CMT patients using microarrays or next generation sequencers. As a result, the detection rate of gene mutations has improved to about 25%. In this study, we applied target resequencing to 72 genes. From the negative examples, we identified the cases based on clinical course, family history, and electrophysiological findings, and then performed exome analysis. We then tried to identify novel causative genes by analyzing the enormous data obtained from our exome analysis.

  20. Current status of tropical fruit breeding and genetics for three tropical fruit species cultivated in Japan: pineapple, mango, and papaya

    Science.gov (United States)

    Ogata, Tatsushi; Yamanaka, Shinsuke; Shoda, Moriyuki; Urasaki, Naoya; Yamamoto, Toshiya

    2016-01-01

    Tropical fruit crops are predominantly produced in tropical and subtropical developing countries, but some are now grown in southern Japan. Pineapple (Ananas comosus), mango (Mangifera indica) and papaya (Carica papaya) are major tropical fruits cultivated in Japan. Modern, well-organized breeding systems have not yet been developed for most tropical fruit species. Most parts of Japan are in the temperate climate zone, but some southern areas such as the Ryukyu Islands, which stretch from Kyushu to Taiwan, are at the northern limits for tropical fruit production without artificial heating. In this review, we describe the current status of tropical fruit breeding, genetics, genomics, and biotechnology of three main tropical fruits (pineapple, mango, and papaya) that are cultivated and consumed in Japan. More than ten new elite cultivars of pineapple have been released with improved fruit quality and suitability for consumption as fresh fruit. New challenges and perspectives for obtaining high fruit quality are discussed in the context of breeding programs for pineapple. PMID:27069392

  1. Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study.

    Directory of Open Access Journals (Sweden)

    Jeffrey J W Verschuren

    Full Text Available BACKGROUND: Coronary restenosis after percutaneous coronary intervention still remains a significant problem, despite all medical advances. Unraveling the mechanisms leading to restenosis development remains challenging. Many studies have identified genetic markers associated with restenosis, but consistent replication of the reported markers is scarce. The aim of the current study was to analyze the joined effect of previously in literature reported candidate genes for restenosis in the GENetic DEterminants of Restenosis (GENDER databank. METHODOLOGY/PRINCIPAL FINDINGS: Candidate genes were selected using a MEDLINE search including the terms 'genetic polymorphism' and 'coronary restenosis'. The final set included 36 genes. Subsequently, all single nucleotide polymorphisms (SNPs in the genomic region of these genes were analyzed in GENDER using set-based analysis in PLINK. The GENDER databank contains genotypic data of 2,571,586 SNPs of 295 cases with restenosis and 571 matched controls. The set, including all 36 literature reported genes, was, indeed, significantly associated with restenosis, p = 0.024 in the GENDER study. Subsequent analyses of the individual genes demonstrated that the observed association of the complete set was determined by 6 of the 36 genes. CONCLUSION: Despite overt inconsistencies in literature, with regard to individual candidate gene studies, this is the first study demonstrating that the joint effect of all these genes together, indeed, is associated with restenosis.

  2. Genetic association studies in drug-induced liver injury.

    Science.gov (United States)

    Daly, Ann K; Day, Chris P

    2009-11-01

    Genetic studies on drug-induced liver injury (DILI) have proved challenging, both because of their rarity and their difficulty in replicating observed effects. However, significant progress has now been achieved by both candidate-gene and genome-wide association studies. These two approaches are considered in detail, together with examples of DILI due to specific drugs where consistent associations have been reported. Particular consideration is given to associations between antituberculosis drug-related liver injury and the "slow acetylator" genotype for N-acetyltransferase 2, amoxicillin/clavulanate-related liver injury, and the human leukocyte antigen (HLA) class II DRB1*1501 allele and flucloxacillin-related injury and the HLA class I B*5701 allele. Although these associations are drug-specific, the possibility that additional, more general susceptibility genes for DILI exist requires further investigation, ideally by genome-wide association studies involving international collaboration. The possibility of interethnic variation in susceptibility to DILI also requires further study.

  3. Evidence for the multiple hits genetic theory for inherited language impairment: a case study

    Directory of Open Access Journals (Sweden)

    Tracy M Centanni

    2015-08-01

    Full Text Available Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.

  4. Paying research participants: a study of current practices in Australia.

    Science.gov (United States)

    Fry, C L; Ritter, A; Baldwin, S; Bowen, K J; Gardiner, P; Holt, T; Jenkinson, R; Johnston, J

    2005-09-01

    To examine current research payment practices and to inform development of clearer guidelines for researchers and ethics committees. Exploratory email based questionnaire study of current research participant reimbursement practices. A diverse sample of organisations and individuals were targeted. Australia. Contacts in 84 key research organisations and select electronic listservers across Australia. A total of 100 completed questionnaires were received with representations from a variety of research areas (for example, market, alcohol and drug, medical, pharmaceutical and social research). Open-ended and fixed alternative questions about type of research agency; type of research; type of population under study; whether payment is standard; amounts and mechanisms of payment; factors taken into account when deciding on payment practices; and whether payment policies exist. Reimbursement practice is highly variable. Where it occurs (most commonly for drug dependent rather than health professional or general population samples) it is largely monetary and is for time and out-of-pocket expenses. Ethics committees were reported to be often involved in decision making around reimbursement. Research subject payment practices vary in Australia. Researchers who do provide payments to research participants generally do so without written policy and procedures. Ethics committees have an important role in developing guidelines in this area. Specific guidelines are needed considering existing local policies and procedures; payment models and their application in diverse settings; case study examples of types and levels of reimbursement; applied definitions of incentive and inducement; and the rationale for diverse payment practices in different settings.

  5. Current Mathematical Methods Used in QSAR/QSPR Studies

    Directory of Open Access Journals (Sweden)

    Peixun Liu

    2009-04-01

    Full Text Available This paper gives an overview of the mathematical methods currently used in quantitative structure-activity/property relationship (QASR/QSPR studies. Recently, the mathematical methods applied to the regression of QASR/QSPR models are developing very fast, and new methods, such as Gene Expression Programming (GEP, Project Pursuit Regression (PPR and Local Lazy Regression (LLR have appeared on the QASR/QSPR stage. At the same time, the earlier methods, including Multiple Linear Regression (MLR, Partial Least Squares (PLS, Neural Networks (NN, Support Vector Machine (SVM and so on, are being upgraded to improve their performance in QASR/QSPR studies. These new and upgraded methods and algorithms are described in detail, and their advantages and disadvantages are evaluated and discussed, to show their application potential in QASR/QSPR studies in the future.

  6. Current management of bronchiectasis: review and 3 case studies.

    Science.gov (United States)

    Silverman, Enid; Ebright, Linda; Kwiatkowski, Marianne; Cullina, Joanne

    2003-01-01

    Bronchiectasis is the abnormal, irreversible dilatation of diseased bronchi. Permanently dilated airways, usually in the medium-sized bronchi, are inflamed and often obstructed with thick, purulent secretions. Known causative factors include postinfection bronchial damage, postinhalation injury, hypersensitivity reactions, and congenital airway obstructive disorders. Typical symptoms include sputum overproduction, fever, pleurisy, dyspnea, and chronic cough. Diagnosis involves radiographic studies and pulmonary function testing. Treatment includes oral, aerosolized, or intravenous antibiotic therapy according to the severity of the exacerbation, and mucus clearance by means of bronchial hygiene assistive devices, chest physiotherapy, postural drainage, and high-frequency chest compression. We present a review of bronchiectasis and offer 3 case studies illustrating current management of different presentations, including use of aerosolized antibiotics for patients infected with Pseudomonas aeruginosa. Although an adjunctive program of pulmonary rehabilitation may be useful for patients with bronchiectasis, no confirming studies have been performed to date, and additional research in this area is warranted.

  7. A genetic study of Wilson's disease in the United Kingdom.

    Science.gov (United States)

    Coffey, Alison J; Durkie, Miranda; Hague, Stephen; McLay, Kirsten; Emmerson, Jennifer; Lo, Christine; Klaffke, Stefanie; Joyce, Christopher J; Dhawan, Anil; Hadzic, Nedim; Mieli-Vergani, Giorgina; Kirk, Richard; Elizabeth Allen, K; Nicholl, David; Wong, Siew; Griffiths, William; Smithson, Sarah; Giffin, Nicola; Taha, Ali; Connolly, Sally; Gillett, Godfrey T; Tanner, Stuart; Bonham, Jim; Sharrack, Basil; Palotie, Aarno; Rattray, Magnus; Dalton, Ann; Bandmann, Oliver

    2013-05-01

    Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson's disease. A total of 116 different ATP7B mutations were detected, 32 of which are novel. The overall mutation detection frequency was 98%. The likelihood of mutations in genes other than ATP7B causing a Wilson's disease phenotype is therefore very low. We report the first cases with Wilson's disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mutations and three families with Wilson's disease in two consecutive generations. We determined the genetic prevalence of Wilson's disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects. The frequency of all single nucleotide variants with in silico evidence of pathogenicity (Class 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been reported as mutations in patients with Wilson's disease were included in the analysis (Class 2 variant). The frequency of heterozygote, putative or definite disease-associated ATP7B mutations was therefore considerably higher than the previously reported occurrence of 1:90 (or 0.011) for heterozygote ATP7B mutation carriers in the general population (P Wilson's disease of 1:30 000 (P = 0.00093). Our study provides strong evidence for monogenic inheritance of Wilson's disease. It also has major implications for ATP7B analysis in clinical practice, namely the need to consider unusual genetic mechanisms such as uniparental disomy or the possible presence of three ATP7B mutations. The marked discrepancy between the genetic prevalence and the number of

  8. Genetics of longevity. data from the studies on Sicilian centenarians

    Directory of Open Access Journals (Sweden)

    Balistreri Carmela R

    2012-04-01

    Full Text Available Abstract The demographic and social changes of the past decades have determined improvements in public health and longevity. So, the number of centenarians is increasing as a worldwide phenomenon. Scientists have focused their attention on centenarians as optimal model to address the biological mechanisms of "successful and unsuccessful ageing". They are equipped to reach the extreme limits of human life span and, most importantly, to show relatively good health, being able to perform their routine daily life and to escape fatal age-related diseases, such as cardiovascular diseases and cancer. Thus, particular attention has been centered on their genetic background and immune system. In this review, we report our data gathered for over 10 years in Sicilian centenarians. Based on results obtained, we suggest longevity as the result of an optimal performance of immune system and an over-expression of anti-inflammatory sequence variants of immune/inflammatory genes. However, as well known, genetic, epigenetic, stochastic and environmental factors seem to have a crucial role in ageing and longevity. Epigenetics is associated with ageing, as demonstrated in many studies. In particular, ageing is associated with a global loss of methylation state. Thus, the aim of future studies will be to analyze the weight of epigenetic changes in ageing and longevity.

  9. Valongo, genetic studies on an isolated Afro-Brazilian community

    Directory of Open Access Journals (Sweden)

    Souza Ilíada Rainha de

    2005-01-01

    Full Text Available A southern Brazilian isolated community of predominantly sub-Saharan African origin, with a total population of 74 individuals and high degree of inbreeding (F = 0.081 was studied. The small sizes of the breeding (35 and effective (21 populations, as well as the very small effective migration rate (4%, suggest a high probability for the occurrence of genetic drift. A sample was typed for fourteen blood genetic systems and most of these systems seem to reveal the founder effect. This evolutionary factor was probably responsible for the absence of some polymorphic alleles frequent in African populations, i.e.: ABO*B, RHD-RHCE*DCe, GPA-GPB*NS (MNSs*NS, GPA-GPB*NS U (MNSs*NSU, HBB*S, HP*2M and ESD*2. The most unusual allele frequency was that for BCHE*A, 0.27, four times higher than its highest estimated frequency and fifty times higher than that those observed in African populations. Considering the allele frequencies of the Sub-Saharan African (A and European (E ancestral populations, the population studied can be quantified as containing 97.33% ? 10.41 of A alleles and 2.67% ? 10.41 of E alleles.

  10. Genetic Association Study of KCNQ5 Polymorphisms with High Myopia

    Directory of Open Access Journals (Sweden)

    Xuan Liao

    2017-01-01

    Full Text Available Identification of genetic variations related to high myopia may advance our knowledge of the etiopathogenesis of refractive error. This study investigated the role of potassium channel gene (KCNQ5 polymorphisms in high myopia. We performed a case-control study of 1563 unrelated Han Chinese subjects (809 cases of high myopia and 754 emmetropic controls. Five tag single-nucleotide polymorphisms (SNPs of KCNQ5 were genotyped, and association testing with high myopia was conducted using logistic regression analysis adjusted for sex and age to give Pasym values, and multiple comparisons were corrected by permutation test to give Pemp values. All five noncoding SNPs were associated with high myopia. The SNP rs7744813, previously shown to be associated with refractive error and myopia in two GWAS, showed an odds ratio of 0.75 (95% CI 0.63–0.90; Pemp = 0.0058 for the minor allele. The top SNP rs9342979 showed an odds ratio of 0.75 (95% CI 0.64–0.89; Pemp = 0.0045 for the minor allele. Both SNPs are located within enhancer histone marks and DNase-hypersensitive sites. Our data support the involvement of KCNQ5 gene polymorphisms in the genetic susceptibility to high myopia and further exploration of KCNQ5 as a risk factor for high myopia.

  11. Prevalence study of genetically defined skeletal muscle channelopathies in England.

    Science.gov (United States)

    Horga, Alejandro; Raja Rayan, Dipa L; Matthews, Emma; Sud, Richa; Fialho, Doreen; Durran, Siobhan C M; Burge, James A; Portaro, Simona; Davis, Mary B; Haworth, Andrea; Hanna, Michael G

    2013-04-16

    To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders. Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients assessed at our national specialist channelopathy service. Only patients living in the United Kingdom with a genetically defined diagnosis of nondystrophic myotonia or periodic paralysis were eligible for the study. Prevalence rates were estimated for England, December 2011. A total of 665 patients fulfilled the inclusion criteria, of which 593 were living in England, giving a minimum point prevalence of 1.12/100,000 (95% confidence interval [CI] 1.03-1.21). Disease-specific prevalence figures were as follows: myotonia congenita 0.52/100,000 (95% CI 0.46-0.59), paramyotonia congenita 0.17/100,000 (95% CI 0.13-0.20), sodium channel myotonias 0.06/100,000 (95% CI 0.04-0.08), hyperkalemic periodic paralysis 0.17/100,000 (95% CI 0.13-0.20), hypokalemic periodic paralysis 0.13/100,000 (95% CI 0.10-0.17), and Andersen-Tawil syndrome (ATS) 0.08/100,000 (95% CI 0.05-0.10). In the whole sample (665 patients), 15 out of 104 different CLCN1 mutations accounted for 60% of all patients with myotonia congenita, 11 out of 22 SCN4A mutations for 86% of paramyotonia congenita/sodium channel myotonia pedigrees, and 3 out of 17 KCNJ2 mutations for 42% of ATS pedigrees. We describe for the first time the overall prevalence of genetically defined skeletal muscle channelopathies in England. Despite the large variety of mutations observed in patients with nondystrophic myotonia and ATS, a limited number accounted for a large proportion of cases.

  12. Using an Event-History with Risk-Free Model to Study the Genetics of Alcoholism.

    Science.gov (United States)

    Yang, Hsin-Chou; Chen, I-Chen; Tsay, Yuh-Chyuan; Li, Zheng-Rong; Chen, Chun-Houh; Hwu, Hai-Gwo; Chen, Chen-Hsin

    2017-05-16

    Case-control genetic association studies typically ignore possible later disease onset in currently healthy subjects and assume that subjects with diseases equally contribute to the likelihood for inference, regardless of their onset age. Therefore, we used an event-history with risk-free model to simultaneously characterize alcoholism susceptibility and onset age in 65 independent non-Hispanic Caucasian males in the Collaborative Study on the Genetics of Alcoholism. Following data quality control, we analysed 22 single nucleotide polymorphisms (SNPs) on 12 candidate genes. The single-SNP analysis showed that the dominant minor allele of rs2134655 on DRD3 increases alcoholism susceptibility; the dominant minor allele of rs1439047 on NTRK2 delays the alcoholism onset age, but the additive minor allele of rs172677 on GRIN2B and the dominant minor allele of rs63319 on ALDH1A1 advance the alcoholism onset age; and the dominant minor allele of rs1079597 on DRD2 shortens the onset age range. Similarly, multiple-SNPs analysis revealed joint effects of rs2134655, rs172677 and rs1079597, with an adjustment for habitual smoking. This study provides a more comprehensive understanding of the genetics of alcoholism than previous case-control studies.

  13. Recommendations for using standardised phenotypes in genetic association studies

    Directory of Open Access Journals (Sweden)

    Naylor Melissa G

    2009-07-01

    Full Text Available Abstract Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of interest (eg lung function, obesity. These phenotypes are appealing because they provide an easy mechanism for comparing subjects, although such standardisations may not be the best way to control for confounders and other covariates. We recommend adjusting raw or standardised phenotypes within the study population via regression. We illustrate through simulation that optimal power in both population- and family-based association tests is attained by using the residuals from within-study adjustment as the complex trait phenotype. An application of family-based association analysis of forced expiratory volume in one second, and obesity in the Childhood Asthma Management Program data, illustrates that power is maintained or increased when adjusted phenotype residuals are used instead of typical standardised quantitative phenotypes.

  14. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    Science.gov (United States)

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  15. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    Science.gov (United States)

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  16. Simulation studies of direct-current microdischarges for electric propulsion

    Science.gov (United States)

    Deconinck, Thomas Dominique

    The structure of direct-current microdischarges is investigated using a detailed two-dimensional multi-species continuum model. Microdischarges are direct-current discharges that operate at a relatively high pressure of about 100 Torr and geometric dimensions in the 10-100 micrometer range. Our motivation for the study of microdischarges comes from a potential application of these devices in microthrusters for small satellite propulsion. The Micro Plasma Thruster (MPT) concept consists of a direct-current microdischarge in a geometry comprising a constant area flow section followed by a diverging exit nozzle. A detailed description of the plasma dynamics inside the MPT including power deposition, ionization, coupling of the plasma phenomena with high-speed flow, and propulsion system performance is reported in this study. A two-dimensional model is developed as part of this study. The model consists of a plasma module coupled to a flow module and is solved on a hybrid unstructured mesh framework. The plasma module provides a self-consistent, multi-species, multi-temperature description of the microdischarge phenomena while the flow module provides a description of the low Reynolds number compressible flow through the system. The plasma module solves conservation equations for plasma species continuity and electron energy, and Poisson's equation for the self-consistent electric field. The flow module solves mass, bulk gas momentum and energy equations. The coupling of energy from the electrostatic field to the plasma species is modeled by the Joule heating term which appears in the electron and heavy species energy equations. Discretization of the Joule heating term on unstructured meshes requires special attention. We propose a new robust method for the numerical discretization of the Joule heating term on such meshes using a cell-centered, finite volume approach. A prototypical microhollow cathode discharge (MHCD) is studied to guide and validate the modeling

  17. Spatial genetic structure in Beta vulgaris subsp. maritima and Beta macrocarpa reveals the effect of contrasting mating system, influence of marine currents, and footprints of postglacial recolonization routes.

    Science.gov (United States)

    Leys, Marie; Petit, Eric J; El-Bahloul, Yasmina; Liso, Camille; Fournet, Sylvain; Arnaud, Jean-François

    2014-05-01

    Understanding the factors that contribute to population genetic divergence across a species' range is a long-standing goal in evolutionary biology and ecological genetics. We examined the relative importance of historical and ecological features in shaping the present-day spatial patterns of genetic structure in two related plant species, Beta vulgaris subsp. maritima and Beta macrocarpa. Using nuclear and mitochondrial markers, we surveyed 93 populations from Brittany (France) to Morocco - the southern limit of their species' range distribution. Whereas B. macrocarpa showed a genotypic structure and a high level of genetic differentiation indicative of selfing, the population genetic structure of B. vulgaris subsp. maritima was consistent with an outcrossing mating system. We further showed (1) a strong geographic clustering in coastal B. vulgaris subsp. maritima populations that highlighted the influence of marine currents in shaping different lineages and (2) a peculiar genetic structure of inland B. vulgaris subsp. maritima populations that could indicate the admixture of distinct evolutionary lineages and recent expansions associated with anthropogenic disturbances. Spatial patterns of nuclear diversity and differentiation also supported a stepwise recolonization of Europe from Atlantic-Mediterranean refugia after the last glacial period, with leading-edge expansions. However, cytoplasmic diversity was not impacted by postglacial recolonization: stochastic long-distance seed dispersal mediated by major oceanic currents may mitigate the common patterns of reduced cytoplasmic diversity observed for edge populations. Overall, the patterns we documented here challenge the general view of reduced genetic diversity at the edge of a species' range distribution and provide clues for understanding how life-history and major geographic features interact to shape the distribution of genetic diversity.

  18. Current Conceptual Challenges in the Study of Rhythm Processing Deficits

    Directory of Open Access Journals (Sweden)

    Pauline eTranchant

    2015-06-01

    Full Text Available Interest in the study of rhythm processing deficits (RPD is currently growing in the cognitive neuroscience community, as this type of investigation constitutes a powerful tool for the understanding of normal rhythm processing. Because this field is in its infancy, it still lacks a common conceptual vocabulary to facilitate effective communication between different researchers and research groups. In this commentary, we provide a brief review of recent reports of RPD through the lens of one important empirical issue: the method by which beat perception is measured, and the consequences of method selection for the researcher’s ability to specify which mechanisms are impaired in RPD. This critical reading advocates for the importance of matching measurement tools to the putative neurocognitive mechanisms under study, and reveals the need for effective and specific assessments of the different aspects of rhythm perception and synchronization.

  19. Recent Developments in Genetic Study of Allergic Disease in the Japanese Population

    Directory of Open Access Journals (Sweden)

    Masao Suzuki

    2005-01-01

    Full Text Available Allergy is a common immune disorder characterized by raised IgE levels, which leads to clinical disorders such as asthma, rhinitis and eczema. Our understanding of the pathogenesis of allergic disease is largely dependent on our current understanding of the related pathophysiology and the available technology. Recent advances in molecular biology techniques have allowed a rapid and accurate identification of polymorphisms in various genes that may be important for determining the susceptibility to allergic disorders. In this review, we present some developments in genetic studies of allergic disease with particular focus on asthma and atopy in the Japanese population.

  20. Cognitive heterogeneity in genetically based prosopagnosia: a family study.

    Science.gov (United States)

    Schmalzl, Laura; Palermo, Romina; Coltheart, Max

    2008-03-01

    Congenital prosopagnosia (CP) is a selective difficulty in recognizing familiar faces that is present from birth. There is mounting evidence for a familial factor in CP, possibly due to a simple autosomal inheritance pattern. However, potential candidate genes remain to be established, and the question whether genetically based CP is a single trait, or a cluster of related subtypes differing in the pattern of impairments to specific components of the face-processing system, remains unanswered. In addition, since the great majority of so far described cases with CP were adult at the time of investigation, it remains unknown which specific aspects of face processing are impaired in small children with CP. Here we present the first study that specifically addresses these questions by elucidating the specific mechanisms underlying face-recognition impairments in seven individuals with CP (aged 4-87 years) belonging to four generations of the same family. Our results indicate that genetically based CP is not a single trait but a cluster of related subtypes, since the pattern of impairments to specific components of the face-processing system varies in individuals belonging to the same family. In addition, we show that the heterogeneity of the cognitive profile in CP with respect to specific aspects of face processing is apparent from early childhood.

  1. Cerebral cavernous malformations: clinical insights from genetic studies.

    Science.gov (United States)

    Mindea, Stefan A; Yang, Benson P; Shenkar, Robert; Bendok, Bernard; Batjer, H Hunt; Awad, Issam A

    2006-07-15

    Familial disease is responsible for one third to one half of cerebral cavernous malformation (CCM) cases presenting to clinical attention. Much has been learned in the past decade about the genetics of these cases, which are all inherited in an autosomal dominant pattern, at three known chromosome loci. Unique features of inherited CCMs in Hispanic-Americans of Mexican descent have been described. The respective genes for each locus have been identified and preliminary observations on disease pathways and mechanisms are coming to light, including possible explanations for selectivity of neural milieu and relationships to endothelial layer abnormalities. Mechanisms of lesion genesis in cases of genetic predisposition are being investigated, with evidence to support a two-hit model emerging from somatic mutation screening of the lesions themselves and from lesion formation in transgenic murine models of the disease. Other information on potential inflammatory factors has emerged from differential gene expression studies. Unique phenotypic features of solitary versus familial cases have emerged: different associations with venous developmental anomaly and the exceptionally high penetrance rates that are found in inherited cases when high-sensitivity screening is performed with gradient echo magnetic resonance imaging. This information has changed the landscape of screening and counseling for patients and their families, and promises to lead to the development of new tools for predicting, explaining, and modifying disease behavior.

  2. Estimation of recombination frequency in genetic linkage studies.

    Science.gov (United States)

    Nordheim, E V; O'Malley, D M; Guries, R P

    1983-09-01

    A binomial-like model is developed that may be used in genetic linkage studies when data are generated by a testcross with parental phase unknown. Four methods of estimation for the recombination frequency are compared for data from a single group and also from several groups; these methods are maximum likelihood, two Bayesian procedures, and an ad hoc technique. The Bayes estimator using a noninformative prior usually has a lower mean squared error than the other estimators and because of this it is the recommended estimator. This estimator appears particularly useful for estimation of recombination frequencies indicative of weak linkage from samples of moderate size. Interval estimates corresponding to this estimator can be obtained numerically by discretizing the posterior distribution, thereby providing researchers with a range of plausible recombination values. Data from a linkage study on pitch pine are used as an example.

  3. Genetic Determinism in School Textbooks: A Comparative Study Conducted among Sixteen Countries

    Science.gov (United States)

    Castera, Jeremy; Clement, Pierre; Abrougui, Mondher; Nisiforou, Olympia; Valanides, Nicos; Turcinaviciene, Jurga; Sarapuu, Tago; Agorram, Boujemaa; Calado, Florbela; Bogner, Franz; Carvalho, Graca

    2008-01-01

    Genetic concepts have significantly evolved over the last ten years, and are now less connected to innate ideas and reductionism. Unique reference to genetic determinism has been replaced by the interaction between the genes and their environment (epigenetics). Our analyses relate to how current school biology textbooks present this new paradigm…

  4. The Current State of Genetics Training in Psychiatric Residency: Views of 235 U.S. Educators and Trainees

    Science.gov (United States)

    Hoop, Jinger G.; Savla, Gauri; Roberts, Laura Weiss; Zisook, Sidney; Dunn, Laura B.

    2010-01-01

    Objective: As researchers make progress in understanding genetic aspects of mental illness and its treatment, psychiatrists will increasingly need to understand and interpret genetic information specific to psychiatric disorders. Little is known about the extent to which residency programs are preparing psychiatrists for this new role. This study…

  5. An alternative experimental case-control design for genetic association studies on bovine mastitis.

    Science.gov (United States)

    Biffani, S; Del Corvo, M; Capoferri, R; Pedretti, A; Luini, M; Williams, J L; Pagnacco, G; Minvielle, F; Minozzi, G

    2017-04-01

    The possibility of using genetic control strategies to increase disease resistance to infectious diseases relies on the identification of markers to include in the breeding plans. Possible incomplete exposure of mastitis-free (control) animals, however, is a major issue to find relevant markers in genetic association studies for infectious diseases. Usually, designs based on elite dairy sires are used in association studies, but an epidemiological case-control strategy, based on cows repeatedly field-tested could be an alternative for disease traits. To test this hypothesis, genetic association results obtained in the present work from a cohort of Italian Holstein cows tested for mastitis over time were compared with those from a previous genome-wide scan on Italian Holstein sires genotyped with 50k single nucleotide polymorphisms for de-regressed estimated breeding values for somatic cell counts (SCCs) on Bos taurus autosome (BTA6) and BTA14. A total of 1121 cows were selected for the case-control approach (cases=550, controls=571), on a combination of herd level of SCC incidence and of within herd individual level of SCC. The association study was conducted on nine previously identified markers, six on BTA6 and four on BTA14, using the R statistical environment with the 'qtscore' function of the GenABEL package, on high/low adjusted linear score as a binomial trait. The results obtained in the cow cohort selected on epidemiological information were in agreement with those obtained from the previous sire genome-wide association study (GWAS). Six out of the nine markers showed significant association, four on BTA14 (rs109146371, rs109234250, rs109421300, rs109162116) and two on BTA6 (rs110527224 and rs42766480). Most importantly, using mastitis as a case study, the current work further validated the alternative use of historical field disease data in case-control designs for genetic analysis of infectious diseases in livestock.

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

    Science.gov (United States)

    Wang, Haiyan

    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.

  7. CURRENT STUDY ON THE FUNDING SOURCES COVERAGE OF CURRENT ASSETS TO COMPANIES LISTED ON THE BUCHAREST STOCK EXCHANGE

    Directory of Open Access Journals (Sweden)

    Teodor HADA

    2014-06-01

    Full Text Available This paper presents issues about the coverage with financing sources of current assets for 64 companies listed on the Bucharest Stock Exchange. The aim of the study is to see how to calculate indicators specific to current assets and the general framework offered as whole analysis of the financing sources of current assets. The introduction of the paper presents the objective, the research methodology and the novelties brought by this study. Further on, this study shows the various views of the authors about the concept of "current assets", financing sources of current assets, the calculation of net working capital, setting the limits of the normal working capital and determining the speed of rotation. After that was done, based on the theory, a case study was performed, for companies covered in this study. Conclusions focused on determining the final data about what was detailed in the previous paragraphs.

  8. A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.

    Science.gov (United States)

    Weinreich, Stephanie S; Bosma, Astrid; Henneman, Lidewij; Rigter, Tessel; Spruijt, Carla M J; Grimbergen, Anneliese J E M A; Breuning, Martijn H; de Koning, Eelco J P; Losekoot, Monique; Cornel, Martina C

    2015-01-01

    Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic mutation carriers. This study describes the first 10 years of genetic testing for MODY in The Netherlands in terms of volume and test positive rate, medical setting, purpose of the test and age of patients tested. Some analyses focus on the most prevalent subtype, HNF1A MODY. Data were retrospectively extracted from a laboratory database. In total, 502 individuals were identified with a pathogenic mutation in HNF4A, GCK or HNF1A between 2001 and 2010. Although mutation scanning for MODY was used at an increasing rate, cascade testing was only used for one relative, on average, per positive index patient. Testing for HNF1A MODY was mostly requested by internists and paediatricians, often from regional hospitals. Primary care physicians and clinical geneticists rarely requested genetic testing for HNF1A MODY. Clinical geneticists requested cascade testing relatively more often than other health professionals. A substantial proportion (currently 29%) of HNF1A MODY probands was at least 40 years old at the time of testing. In conclusion, the number of individuals genetically tested for MODY so far in The Netherlands is low compared with previously predicted numbers of patients. Doctors' valuation of the test and patients' and family members' response to (an offer of) genetic testing on the other hand need to be investigated. Efforts may be needed to develop and implement translational guidelines.

  9. Optimal Design and Analysis of Genetic Studies on Gene Expression

    NARCIS (Netherlands)

    Fu, Jingyuan; Jansen, Ritsert C.

    2006-01-01

    Whole-genome profiling of gene expression in a segregating population has the potential to identify the regulatory consequences of natural allelic variation. Costs of such studies are high and require that resources—microarrays and population—are used as efficiently as possible. We show that current

  10. Experimental study of blockage of monochromatic waves by counter currents

    NARCIS (Netherlands)

    Suastika, I.K.

    1999-01-01

    Blockage of waves by a current can occur if waves are propagating on a spatially varying opposing current in which the velocity is increasing in the wave propagation direction. The ongoing waves become shorter and steeper while they are propagating against the current. Blocking occurs at the

  11. General aspects and current view of the molecular study of Phenylketonuria (PKU in Mexico

    Directory of Open Access Journals (Sweden)

    Miguel Ángel Alcántara-Ortigoza

    2014-07-01

    Full Text Available Phenylketonuria (PKU is an autosomic recessive inborn errors of metabolism. It is caused y the deficiency of phenylalanine hydroxylase, an enzyme encoded by the PAH gene in 12q22. This gene has a wide mutation spectrum and several different genotypes have been identified. There are many experimental strategies that allow molecular diagnosis of PAH in order to identify causal mutations in patients with phenylektonuria. The identification of the PAH genotype in these patients allows genetic counseling, genotype-phenotype correlation and for some cases treatment adjustment. There are few studies concerning the mutation spectrum of PAH in Mexican patients. Currently, a study to identify the genotypes of these patients is being done. Only preliminary results are presented, nevertheless results are expected to clarify the mutation spectrum, enable the identification of possible genotype-phenotype correlations and elucidate the ancestral origin of the mutations.

  12. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    Science.gov (United States)

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  13. Optical timing studies of isolated neutron stars: Current Status

    CERN Document Server

    Mignani, R P

    2010-01-01

    Being fast rotating objects, Isolated Neutron Stars (INSs) are natural targets for high-time resolution observations across the whole electromagnetic spectrum. With the number of objects detected at optical (plus ultraviolet and infrared) wavelengths now increased to 24, high-time resolution observations of INSs at these wavelengths are becoming more and more important. While classical rotation-powered radio pulsars, like the Crab and Vela pulsars, have been the first INSs studied at high-time resolution in the optical domain, observations performed in the last two decades have unveiled potential targets in other types of INSs which are not rotation powered, although their periodic variability is still related to the neutron star rotation. In this paper I review the current status of high-time resolution observations of INSs in the optical domain for different classes of objects: rotation-powered pulsars, magnetars, thermally emitting neutron stars, and rapid radio transients, I describe their timing properti...

  14. Numerical Study on the Bifurcation of the North Equatorial Current

    Institute of Scientific and Technical Information of China (English)

    LIU Yulong; WANG Qi; SONG Jun; ZHU Xiande; GONG Xiaoqing; WU Fang

    2011-01-01

    A 1.5-layer reduced-gravity model forced by wind stress is used to study the bifurcations of the North Equatorial Current (NEC).The authors found that after removing the Ekman drift,the modelled circulations can serve well as a proxy of the SODA circulations on the σθ=25.0kgm-3 potential density surface based on available long-term reanalysis wind stress data.The modelled results show that the location of the western boundary bifurcation of the NEC depends on both zonal averaged and local zero wind stress curl latitude.The effects of the anomalous wind stress curl added in different areas are also investigated and it is found that they can change the strength of the Mindanao Eddy (ME),and then influence the interior pathway.

  15. Evaluation and Genetic Polymorphism studies of Jatropha (Jatropha curcus for Water Stress Tolerance

    Directory of Open Access Journals (Sweden)

    Borse Tushar

    2010-05-01

    Full Text Available Jatropha (Jatropha curcus is an alternative resource for biodiesel. To boost the rural economy in sustainable manner it is estimated that 30 Million hector plantation may replace current use of fossil fuel. Although Jatropha has an inbuilt ability to grow under water limited conditions, scanty information is available about natural genetic variation for water stress tolerance. Three local genotypes from Pune district were collected and initially screened by imparting artificial stress using PEG – 6000. Seedlings were subjected to increasing concentration of PEG – 6000 (30, 60, 90, 120 and 150 gm/l to study effect on growth parameters.The root growth, number of secondary roots, true leaf expansion at morphological level and palisade mesophyll height, xylem vessel expansion at anatomical level showed drastic negative impact as compared to control. It is worth to note that local germplasm performance was categorized into susceptible group as compared to tolerant genotype [Chattisgadh Selection] indicating need for genetic improvement. These genotypes were further studied at molecular level with RAPD and ISSR markers to amplify genetic variation. Polymorphic bands from Chattisgadh selection genotype are being evaluated for their usefulness as markers for water stress tolerance.

  16. Genetics of dietary habits and obesity - a twin study

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise

    2010-01-01

    influences on dietary intake in adults and the interplay between diet, genes and obesity. The focus of the thesis was to investigate the genetic and environmental influence on habitual diet and obesity as well as the association between habitual diet and anthropometry. The thesis is based on structural....... The study showed, however, consistent positive associations between intake of sugar-sweetened soft drink and BMI, FMI and waist circumference in men. Gene-environment interaction models showed that while high physical activity is associated with a down-regulation of genes predisposing to obesity......Obesity has become a major health concern due to the increased risk of co-morbidities, resulting in decreased quality of life, stigmatization, reduced working ability and early death. This causes a great challenge for the health care systems and results in increased direct costs related...

  17. Study on Dynamic Information of Animal Genetic Resources in China

    Institute of Scientific and Technical Information of China (English)

    MA Yue-hui; XU Gui-fang; WANG Duan-yun; LIU Hai-liang; YANG Yan

    2003-01-01

    The dynamic information of 331 animal genetic resources in 17 important animal genetic re-source provinces (regions) was analyzed. According to the population inbreeding coefficient, combiningwith the information of population dynamic change trend and cross degree, these genetic resources forthreatened degrees were classified. The results indicated that the population size of 138 breeds had in-creased, 147 breeds had decreased, 3 breeds were constant, 7 breeds (or varieties) were extinct, 9 breeds(or varieties) were critically endangered and needed urgently conserve, 50 breeds (or varieties) were endan-gered and should be conserved. We put forward a conservation and utilization plan for animal genetic re-sources.

  18. A Genetic Predictive Model for Canine Hip Dysplasia: Integration of Genome Wide Association Study (GWAS) and Candidate Gene Approaches

    Science.gov (United States)

    Bartolomé, Nerea; Segarra, Sergi; Artieda, Marta; Francino, Olga; Sánchez, Elisenda; Szczypiorska, Magdalena; Casellas, Joaquim; Tejedor, Diego; Cerdeira, Joaquín; Martínez, Antonio; Velasco, Alfonso; Sánchez, Armand

    2015-01-01

    Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B) and case (D/E). C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85) and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors’ opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds. PMID:25874693

  19. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS and candidate gene approaches.

    Directory of Open Access Journals (Sweden)

    Nerea Bartolomé

    Full Text Available Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B and case (D/E. C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85 and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  20. A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS) and candidate gene approaches.

    Science.gov (United States)

    Bartolomé, Nerea; Segarra, Sergi; Artieda, Marta; Francino, Olga; Sánchez, Elisenda; Szczypiorska, Magdalena; Casellas, Joaquim; Tejedor, Diego; Cerdeira, Joaquín; Martínez, Antonio; Velasco, Alfonso; Sánchez, Armand

    2015-01-01

    Canine hip dysplasia is one of the most prevalent developmental orthopedic diseases in dogs worldwide. Unfortunately, the success of eradication programs against this disease based on radiographic diagnosis is low. Adding the use of diagnostic genetic tools to the current phenotype-based approach might be beneficial. The aim of this study was to develop a genetic prognostic test for early diagnosis of hip dysplasia in Labrador Retrievers. To develop our DNA test, 775 Labrador Retrievers were recruited. For each dog, a blood sample and a ventrodorsal hip radiograph were taken. Dogs were divided into two groups according to their FCI hip score: control (A/B) and case (D/E). C dogs were not included in the sample. Genetic characterization combining a GWAS and a candidate gene strategy using SNPs allowed a case-control population association study. A mathematical model which included 7 SNPs was developed using logistic regression. The model showed a good accuracy (Area under the ROC curve = 0.85) and was validated in an independent population of 114 dogs. This prognostic genetic test represents a useful tool for choosing the most appropriate therapeutic approach once genetic predisposition to hip dysplasia is known. Therefore, it allows a more individualized management of the disease. It is also applicable during genetic selection processes, since breeders can benefit from the information given by this test as soon as a blood sample can be collected, and act accordingly. In the authors' opinion, a shift towards genomic screening might importantly contribute to reducing canine hip dysplasia in the future. In conclusion, based on genetic and radiographic information from Labrador Retrievers with hip dysplasia, we developed an accurate predictive genetic test for early diagnosis of hip dysplasia in Labrador Retrievers. However, further research is warranted in order to evaluate the validity of this genetic test in other dog breeds.

  1. Sequence imputation of HPV16 genomes for genetic association studies.

    Directory of Open Access Journals (Sweden)

    Benjamin Smith

    Full Text Available BACKGROUND: Human Papillomavirus type 16 (HPV16 causes over half of all cervical cancer and some HPV16 variants are more oncogenic than others. The genetic basis for the extraordinary oncogenic properties of HPV16 compared to other HPVs is unknown. In addition, we neither know which nucleotides vary across and within HPV types and lineages, nor which of the single nucleotide polymorphisms (SNPs determine oncogenicity. METHODS: A reference set of 62 HPV16 complete genome sequences was established and used to examine patterns of evolutionary relatedness amongst variants using a pairwise identity heatmap and HPV16 phylogeny. A BLAST-based algorithm was developed to impute complete genome data from partial sequence information using the reference database. To interrogate the oncogenic risk of determined and imputed HPV16 SNPs, odds-ratios for each SNP were calculated in a case-control viral genome-wide association study (VWAS using biopsy confirmed high-grade cervix neoplasia and self-limited HPV16 infections from Guanacaste, Costa Rica. RESULTS: HPV16 variants display evolutionarily stable lineages that contain conserved diagnostic SNPs. The imputation algorithm indicated that an average of 97.5±1.03% of SNPs could be accurately imputed. The VWAS revealed specific HPV16 viral SNPs associated with variant lineages and elevated odds ratios; however, individual causal SNPs could not be distinguished with certainty due to the nature of HPV evolution. CONCLUSIONS: Conserved and lineage-specific SNPs can be imputed with a high degree of accuracy from limited viral polymorphic data due to the lack of recombination and the stochastic mechanism of variation accumulation in the HPV genome. However, to determine the role of novel variants or non-lineage-specific SNPs by VWAS will require direct sequence analysis. The investigation of patterns of genetic variation and the identification of diagnostic SNPs for lineages of HPV16 variants provides a valuable

  2. Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study

    Directory of Open Access Journals (Sweden)

    Wernimont Susan M

    2011-11-01

    Full Text Available Abstract Background Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. Methods 330 SNPs in 52 genes were studied in relation to plasma homocysteine and global genomic DNA methylation. SNPs were selected based on functional effects and gene coverage, and assays were completed on the Illumina Goldengate platform. Age-, smoking-, and nutrient-adjusted genotype--phenotype associations were estimated in regression models. Results Using a nominal P ≤ 0.005 threshold for statistical significance, 20 SNPs were associated with plasma homocysteine, 8 with Alu methylation, and 1 with LINE-1 methylation. Using a more stringent false discovery rate threshold, SNPs in FTCD, SLC19A1, and SLC19A3 genes remained associated with plasma homocysteine. Gene by vitamin B-6 interactions were identified for both Alu and LINE-1 methylation, and epistatic interactions with the MTHFR rs1801133 SNP were identified for the plasma homocysteine phenotype. Pleiotropy involving the MTHFD1L and SARDH genes for both plasma homocysteine and Alu methylation phenotypes was identified. Conclusions No single gene was associated with all three phenotypes, and the set of the most statistically significant SNPs predictive of homocysteine or Alu or LINE-1 methylation was unique to each phenotype. Genetic variation in folate-mediated one-carbon metabolism, other than the well-known effects of the MTHFR c.665C>T (known as c.677 C>T, rs1801133, p.Ala222Val, is predictive of cardiovascular disease biomarkers.

  3. Experimental Study on Current-Driven Domain Wall Motion

    Science.gov (United States)

    Ono, T.; Yamaguchi, A.; Tanigawa, H.; Yano, K.; Kasai, S.

    2006-06-01

    Current-driven domain wall (DW) motion for a well-defined single DW in a micro-fabricated magnetic wire with submicron width was investigated by real-space observation with magnetic force microscopy. Magnetic force microscopy visualizes that a single DW introduced in a wire is displaced back and forth by positive and negative pulsed-current, respectively. Effect of the Joule heating, reduction of the threshold current density by shape control, and magnetic ratchet effect are also presented.

  4. The ups and downs of coral reef fishes: the genetic characteristics of a formerly severely overfished but currently recovering Nassau grouper fish spawning aggregation

    Science.gov (United States)

    Bernard, A. M.; Feldheim, K. A.; Nemeth, R.; Kadison, E.; Blondeau, J.; Semmens, B. X.; Shivji, M. S.

    2016-03-01

    The Nassau grouper ( Epinephelus striatus) has sustained large declines across its distribution, including extirpation of many of its fish spawning aggregations (FSAs). Within US Virgin Islands (USVI) waters, Nassau grouper FSAs were overfished until their disappearance in the 1970s and 1980s. In the early 2000s, however, Nassau grouper were found gathering at Grammanik Bank, USVI, a mesophotic coral reef adjacent to one of the extinct aggregation sites, and regulatory protective measures were implemented to protect this fledgling FSA. The population genetic dynamics of this rapid FSA deterioration followed by protection-facilitated, incipient recovery are unknown. We addressed two objectives: (1) we explored which factors (i.e., local vs. external recruitment) might be key in shaping the USVI FSA recovery; and (2) we examined the consequences of severe past overfishing on this FSA's current genetic status. We genotyped individuals (15 microsatellites) from the USVI FSA comprising three successive spawning years (2008-2010), as well as individuals from a much larger, presumably less impacted, Nassau grouper FSA in the Cayman Islands, to assess their comparative population dynamics. No population structure was detected between the USVI and Cayman FSAs ( F ST = -0.0004); however, a temporally waning, genetic bottleneck signal was detected in the USVI FSA. Parentage analysis failed to identify any parent-offspring matches between USVI FSA adults and nearby juveniles, and relatedness analysis showed low levels of genetic relatedness among USVI FSA individuals. Genetic diversity across USVI FSA temporal collections was relatively high, and no marked differences were found between the USVI and Cayman FSAs. These collective results suggest that external recruitment is an important driver of the USVI FSA recovery. Furthermore, despite an apparent genetic bottleneck, the genetic diversity of USVI Nassau grouper has not been severely compromised. Our findings also provide a

  5. Bioenergy grass feedstock: current options and prospects for trait improvement using emerging genetic, genomic, and systems biology toolkits

    Directory of Open Access Journals (Sweden)

    Feltus Frank

    2012-11-01

    Full Text Available Abstract For lignocellulosic bioenergy to become a viable alternative to traditional energy production methods, rapid increases in conversion efficiency and biomass yield must be achieved. Increased productivity in bioenergy production can be achieved through concomitant gains in processing efficiency as well as genetic improvement of feedstock that have the potential for bioenergy production at an industrial scale. The purpose of this review is to explore the genetic and genomic resource landscape for the improvement of a specific bioenergy feedstock group, the C4 bioenergy grasses. First, bioenergy grass feedstock traits relevant to biochemical conversion are examined. Then we outline genetic resources available bioenergy grasses for mapping bioenergy traits to DNA markers and genes. This is followed by a discussion of genomic tools and how they can be applied to understanding bioenergy grass feedstock trait genetic mechanisms leading to further improvement opportunities.

  6. Bioenergy grass feedstock: current options and prospects for trait improvement using emerging genetic, genomic, and systems biology toolkits.

    Science.gov (United States)

    Feltus, Frank Alex; Vandenbrink, Joshua P

    2012-11-02

    For lignocellulosic bioenergy to become a viable alternative to traditional energy production methods, rapid increases in conversion efficiency and biomass yield must be achieved. Increased productivity in bioenergy production can be achieved through concomitant gains in processing efficiency as well as genetic improvement of feedstock that have the potential for bioenergy production at an industrial scale. The purpose of this review is to explore the genetic and genomic resource landscape for the improvement of a specific bioenergy feedstock group, the C4 bioenergy grasses. First, bioenergy grass feedstock traits relevant to biochemical conversion are examined. Then we outline genetic resources available bioenergy grasses for mapping bioenergy traits to DNA markers and genes. This is followed by a discussion of genomic tools and how they can be applied to understanding bioenergy grass feedstock trait genetic mechanisms leading to further improvement opportunities.

  7. ‘Smoking Genes’: A Genetic Association Study

    Science.gov (United States)

    Rodríguez González-Moro, José Miguel; de Lucas Ramos, Pilar; López Martín, Soledad; Bandrés, Fernando; Lucia, Alejandro; Gómez-Gallego, Félix

    2011-01-01

    Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence) with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A) [rs1801272], CYP2A6*9 (−48T>G) [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T) [rs8192789], CYP2A13*3 (7520C>G), CYP2A13*4 (579G>A), CYP2A13*7 (578C>T) [rs72552266], CYP2B6*4 (785A>G), CYP2B6*9 (516G>T), CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A) [rs1800497], 5HTT LPR, HTR2A −1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126) and ethnically matched never smokers (controls, N = 80). The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A) polymorphisms was 3.60 (95%CI: 1.75, 7.44) and 2.63 (95%CI: 1.41, 4.89) respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65). We found a significant genotype effect (all P≤0.017) for the following smoking-related phenotypes: (i) cigarettes smoked per day and CYP2A13*3; (ii) pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A); (iii) nicotine dependence (assessed with the Fagestrom test) and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms) are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5), serotoninergic (HTR2A), opioid (OPRM1) or cannabinoid receptors (CNR1). PMID:22046326

  8. Study of toroidal current penetration during current ramp in JIPP T-IIU with fast response Zeeman polarimeter

    Energy Technology Data Exchange (ETDEWEB)

    Kuramoto, H.; Hiraki, N. [Kyushu Inst. of Tech., Kitakyushu, Fukuoka (Japan); Toi, K. [and others

    1997-01-01

    The toroidal current penetration is studied in current ramp experiments of the JIPP T-IIU tokamak. The poloidal magnetic field profile in the peripheral region of a plasma (0.5 {<=} {rho} {<=} 1.0) has been measured directly with a newly developed fast response Zeeman polarimeter. The experimental results indicate that an obvious skin effect of toroidal current density is clearly observed during both the current ramp-up and ramp-down experiments. The experimentally obtained toroidal current density profiles are well described by the profiles calculated on the assumption of the neoclassical electrical conductivity. Quasi-linear {Delta}`-analysis of tearing modes for the measured current density profile is consistent with time behaviour of coherent MHD modes such as m=4/n=1 or m=3/n=1 (m: poloidal mode number, n: toroidal mode number) often observed during the current ramp-up phase. The effect of these MHD modes on current penetration during the current ramp-up discharges is studied. (author)

  9. Current state of the hydrothermal geochemistry studies at Cerro Prieto

    Energy Technology Data Exchange (ETDEWEB)

    Fausto L, J.J.; Jimenez S, M.E.; Esquer P, I.

    1981-01-01

    The current state of hydrothermal geochemistry studies being carried out at the field are reported. These studies are based on the results of chemical analysis of water samples collected during 1979 and 1980 at the geothermal wells of the area known as Cerro Prieto I, as well as from those located in the Cerro Prieto II and Cerro Prieto III areas, some of which have only recently started flowing. Data are presented on the chemical variations of the main chemical constituents dissolved in the waters, as well as on the Na/K and Na-K-Ca chemical relations and the temperatures calculated from them and from SiO/sub 2/. Fluid recharge into the reservoir and its direction of flow are interpreted from isotherm contour maps of the field prepared from Na/K and Na-K-Ca geothermometry and from concentration contour maps of some of the main chemical constituents. Well M-43 is discussed as an example of a well affected by well completion problems in its production casing. Its behavior is explained on the basis of the chemical characteristics of the produced water. The chemical changes that have taken place in some of the wells during production are explained by correlating the chemistry with the production mechanisms of the well (steam-water production rates).

  10. Current Advances in the Metabolomics Study on Lotus Seeds.

    Science.gov (United States)

    Zhu, Mingzhi; Liu, Ting; Guo, Mingquan

    2016-01-01

    Lotus (Nelumbo nucifera), which is distributed widely throughout Asia, Australia and North America, is an aquatic perennial that has been cultivated for over 2,000 years. It is very stimulating that almost all parts of lotus have been consumed as vegetable as well as food, especially the seeds. Except for the nutritive values of lotus, there has been increasing interest in its potential as functional food due to its rich secondary metabolites, such as flavonoids and alkaloids. Not only have these metabolites greatly contributed to the biological process of lotus seeds, but also have been reported to possess multiple health-promoting effects, including antioxidant, anti-amnesic, anti-inflammatory, and anti-tumor activities. Thus, comprehensive metabolomic profiling of these metabolites is of key importance to help understand their biological activities, and other chemical biology features. In this context, this review will provide an update on the current technological platforms, and workflow associated with metabolomic studies on lotus seeds, as well as insights into the application of metabolomics for the improvement of food safety and quality, assisting breeding, and promotion of the study of metabolism and pharmacokinetics of lotus seeds; meanwhile it will also help explore new perspectives and outline future challenges in this fast-growing research subject.

  11. Solar cycle in current reanalyses: (nonlinear attribution study

    Directory of Open Access Journals (Sweden)

    A. Kuchar

    2014-12-01

    Full Text Available This study focusses on the variability of temperature, ozone and circulation characteristics in the stratosphere and lower mesosphere with regard to the influence of the 11 year solar cycle. It is based on attribution analysis using multiple nonlinear techniques (Support Vector Regression, Neural Networks besides the traditional linear approach. The analysis was applied to several current reanalysis datasets for the 1979–2013 period, including MERRA, ERA-Interim and JRA-55, with the aim to compare how this type of data resolves especially the double-peaked solar response in temperature and ozone variables and the consequent changes induced by these anomalies. Equatorial temperature signals in the lower and upper stratosphere were found to be sufficiently robust and in qualitative agreement with previous observational studies. The analysis also pointed to the solar signal in the ozone datasets (i.e. MERRA and ERA-Interim not being consistent with the observed double-peaked ozone anomaly extracted from satellite measurements. Consequently the results obtained by linear regression were confirmed by the nonlinear approach through all datasets, suggesting that linear regression is a relevant tool to sufficiently resolve the solar signal in the middle atmosphere. Furthermore, the seasonal dependence of the solar response was also discussed, mainly as a source of dynamical causalities in the wave propagation characteristics in the zonal wind and the induced meridional circulation in the winter hemispheres. The hypothetical mechanism of a weaker Brewer Dobson circulation was reviewed together with discussion of polar vortex stability.

  12. Solar cycle in current reanalyses: (non)linear attribution study

    Science.gov (United States)

    Kuchar, A.; Sacha, P.; Miksovsky, J.; Pisoft, P.

    2014-12-01

    This study focusses on the variability of temperature, ozone and circulation characteristics in the stratosphere and lower mesosphere with regard to the influence of the 11 year solar cycle. It is based on attribution analysis using multiple nonlinear techniques (Support Vector Regression, Neural Networks) besides the traditional linear approach. The analysis was applied to several current reanalysis datasets for the 1979-2013 period, including MERRA, ERA-Interim and JRA-55, with the aim to compare how this type of data resolves especially the double-peaked solar response in temperature and ozone variables and the consequent changes induced by these anomalies. Equatorial temperature signals in the lower and upper stratosphere were found to be sufficiently robust and in qualitative agreement with previous observational studies. The analysis also pointed to the solar signal in the ozone datasets (i.e. MERRA and ERA-Interim) not being consistent with the observed double-peaked ozone anomaly extracted from satellite measurements. Consequently the results obtained by linear regression were confirmed by the nonlinear approach through all datasets, suggesting that linear regression is a relevant tool to sufficiently resolve the solar signal in the middle atmosphere. Furthermore, the seasonal dependence of the solar response was also discussed, mainly as a source of dynamical causalities in the wave propagation characteristics in the zonal wind and the induced meridional circulation in the winter hemispheres. The hypothetical mechanism of a weaker Brewer Dobson circulation was reviewed together with discussion of polar vortex stability.

  13. A clinical and genetic study in myotonic dystrophy

    NARCIS (Netherlands)

    C.J. Höweler (Chris)

    1986-01-01

    textabstractThe genetic counselling for myotonic dystrophy patients appears to be relatively simple. The disease is transtnitted as an autosomal dominant trait, and the patients risk of transmitting the abnormal gene to his children is 50%. However, many patients at the age at which genetic counsell

  14. Study of genetic diversity in finger millet (Eleusine coracana L ...

    African Journals Online (AJOL)

    STORAGESEVER

    2010-07-19

    Jul 19, 2010 ... portions of genome, and detects evolutionary homologous changes. ... using these data either to estimate genetic variation present within and ... Development costs ..... possibility of linkage with an area of specific phenotype. Presence of .... Assessment of genome origins and genetic diversity in the genus.

  15. Risk factors for Alzheimer's disease : a genetic-epidemiologic study

    NARCIS (Netherlands)

    C.M. van Duijn (Cock)

    1992-01-01

    textabstractThe work presented in this thesis has been motivated by the Jack of knowledge of risk factors for Alzheimer's disease. It has been long recognised that genetic factors are implicated, in particular in early-onset Alzheimer's disease.4 But to what extent are genetic factors involved? Are

  16. Studies on Monitoring and Tracking Genetic Resources: An Executive Summary

    DEFF Research Database (Denmark)

    Garrity, GM; Thompson, LM; Ussery, David

    2009-01-01

    The principles underlying fair and equitable sharing of benefits derived from the utilization of genetic resources are set out in Article 15 of the UN Convention on Biological Diversity, which stipulate that access to genetic resources is subject to the prior informed consent of the country where...

  17. [Collaborative study on regulatory science for facilitating clinical development of gene therapy products for genetic diseases].

    Science.gov (United States)

    Uchida, Eriko; Igarashi, Yuka; Sato, Yoji

    2014-01-01

    Gene therapy products are expected as innovative medicinal products for intractable diseases such as life-threatening genetic diseases and cancer. Recently, clinical developments by pharmaceutical companies are accelerated in Europe and the United States, and the first gene therapy product in advanced countries was approved for marketing authorization by the European Commission in 2012. On the other hand, more than 40 clinical studies for gene therapy have been completed or ongoing in Japan, most of them are conducted as clinical researches by academic institutes, and few clinical trials have been conducted for approval of gene therapy products. In order to promote the development of gene therapy products, revision of the current guideline and/or preparation of concept paper to address the evaluation of the quality and safety of gene therapy products are necessary and desired to clearly show what data should be submitted before First-in-Human clinical trials of novel gene therapy products. We started collaborative study with academia and regulatory agency to promote regulatory science toward clinical development of gene therapy products for genetic diseases based on lentivirus and adeno-associated virus vectors; National Center for Child Health and Development (NCCHD), Nippon Medical School and PMDA have been joined in the task force. At first, we are preparing pre-draft of the revision of the current gene therapy guidelines in this project.

  18. Life events as environmental States and genetic traits and the role of personality: a longitudinal twin study.

    Science.gov (United States)

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

    2012-01-01

    The occurrence of many life events is not entirely random but genetically influenced. The current study examined the sources underlying the stability or recurrence of life events and the developmental interplay between personality traits and life events. In a longitudinal study of 338 adult twin pairs we estimated (1) the genetic and environmental sources of continuity in aggregates of life events, (2) the sources through which personality influences the experience of life events, and (3) the sources through which life events influence personality. Unlike personality which showed both genetic and environmental influences on substantial continuity over time, stability of life events was moderate and mainly influenced by genetic factors. Significant associations between personality and life events were specific to certain personality traits and qualitative aspects of life events (controllable positive, controllable negative, and less controllable negative), primarily directional from personality to life events, and basically genetically mediated. Controlled for these genetic associations, we also found some small and basically environmentally mediated effects of life events on personality traits. The results support the concept of genotype-environment correlation as a propulsive mechanism of development.

  19. Particle Image Velocimetry Study of Density Current Fronts

    Science.gov (United States)

    Martin, Juan Ezequiel

    2009-01-01

    Gravity currents are flows that occur when a horizontal density difference causes fluid to move under the action of gravity; density currents are a particular case, for which the scalar causing the density difference is conserved. Flows with a strong effect of the horizontal density difference, even if only partially driven by it--such as the…

  20. Genetic susceptibility to dental caries differs between the sexes: a family-based study.

    Science.gov (United States)

    Shaffer, John R; Wang, Xiaojing; McNeil, Daniel W; Weyant, Robert J; Crout, Richard; Marazita, Mary L

    2015-01-01

    Many of the factors affecting susceptibility to dental caries are likely influenced by genetics. In fact, genetics accounts for up to 65% of inter-individual variation in dental caries experience. Sex differences in dental caries experience have been widely reported, with females usually exhibiting a higher prevalence and severity of disease across all ages. The cause for this sex bias is currently uncertain, although it may be partly due to the differential effects of genetic factors between the sexes: gene-by-sex interactions. In this family based study (N = 2,663; 740 families; ages 1-93 years), we assessed dental caries via intra-oral examination and generated six indices of caries experience (DMFS, dfs, and indices of both pit-and-fissure surface caries and smooth surface caries in both primary and permanent dentitions). We used likelihood-based methods to model the variance in caries experience conditional on the expected genetic sharing among relatives in our sample. This modeling framework allowed us to test two lines of evidence for gene-by-sex interactions: (1) whether the magnitude of the cumulative effect of genes differs between the sexes, and (2) whether different genes are involved. We observed significant evidence of gene-by-sex interactions for caries experience in both the primary and permanent dentitions. In the primary dentition, the magnitude of the effect of genes was greater in males than females. In the permanent dentition, different genes may play important roles in each of the sexes. Overall, this study provides the first direct evidence that sex differences in dental caries experiences may be explained, in part, by gene-by-sex interactions.

  1. Genetic Determinism in the Genetics Curriculum - An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

    Science.gov (United States)

    Jamieson, Annie; Radick, Gregory

    2017-07-01

    Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism. Undergraduate students who attended a standard `Mendelian approach' university course in introductory genetics on average showed no change in their determinist views about genes. By contrast, students who attended an alternative course which, inspired by the work of a critic of early Mendelism, W. F. R. Weldon (1860-1906), replaced an emphasis on Mendel's peas with an emphasis on developmental contexts and their role in bringing about phenotypic variability, were less determinist about genes by the end of teaching. Improvements in both the new Weldonian curriculum and the study design are in view for the future.

  2. Replication of genetic association studies in aortic stenosis in adults.

    Science.gov (United States)

    Gaudreault, Nathalie; Ducharme, Valérie; Lamontagne, Maxime; Guauque-Olarte, Sandra; Mathieu, Patrick; Pibarot, Philippe; Bossé, Yohan

    2011-11-01

    Only a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 > p > 6.2 × 10⁻¹¹). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10⁻¹¹). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.

  3. The Minnesota Adoption Studies: genetic differences and malleability.

    Science.gov (United States)

    Scarr, S; Weinberg, R A

    1983-04-01

    In 1974 we launched 2 large adoption studies for 2 quite different purposes. The Transracial Adoption Study was designed to test the hypothesis that black and interracial children reared by white families perform on IQ and school achievement tests as well as other adoptees because they are reared in the culture of the tests and the schools. In addition, transracial families provided a sample with large numbers of adopted and natural children in the same families. Sources of individual differences among siblings could be studied without fear of possible differences between adoptive families and those with their own children. The Adolescent Adoption Study was designed to assess the cumulative impact of differences among family environments at the end of the child-rearing period. All of the children were adopted in the first year of life and averaged 18.5 years at the time of the study. A comparison sample of families with their own adolescents was also studied. Black and interracial children scored as well on IQ tests as adoptees in other studies. Individual differences among them, however, were more related to differences among their biological than adoptive parents, whether they lived together or not. Young siblings were found to be intellectually quite similar, whether genetically related or not. Adolescents' IQ test scores were similar to those of their parents and siblings only if they were biologically related. Our interpretation of these results is that younger children are more influenced by differences among their family environments than older adolescents, who are freer to seek their own niches.

  4. Study on electrical current variations in electromembrane extraction process: Relation between extraction recovery and magnitude of electrical current.

    Science.gov (United States)

    Rahmani, Turaj; Rahimi, Atyeh; Nojavan, Saeed

    2016-01-15

    This contribution presents an experimental approach to improve analytical performance of electromembrane extraction (EME) procedure, which is based on the scrutiny of current pattern under different extraction conditions such as using different organic solvents as supported liquid membrane, electrical potentials, pH values of donor and acceptor phases, variable extraction times, temperatures, stirring rates, different hollow fiber lengths and the addition of salts or organic solvents to the sample matrix. In this study, four basic drugs with different polarities were extracted under different conditions with the corresponding electrical current patterns compared against extraction recoveries. The extraction process was demonstrated in terms of EME-HPLC analyses of selected basic drugs. Comparing the obtained extraction recoveries with the electrical current patterns, most cases exhibited minimum recovery and repeatability at the highest investigated magnitude of electrical current. . It was further found that identical current patterns are associated with repeated extraction efficiencies. In other words, the pattern should be repeated for a successful extraction. The results showed completely different electrical currents under different extraction conditions, so that all variable parameters have contributions into the electrical current pattern. Finally, the current patterns of extractions from wastewater, plasma and urine samples were demonstrated. The results indicated an increase in the electrical current when extracting from complex matrices; this was seen to decrease the extraction efficiency.

  5. Technology assessment and resource allocation for predictive genetic testing: A study of the perspectives of Canadian genetic health care providers

    Directory of Open Access Journals (Sweden)

    Einsiedel Edna

    2009-06-01

    Full Text Available Abstract Background With a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing robust decision rules or guidelines to allocate a finite number of public resources. The objective of this study was to gain Canadian genetic health providers' perspectives on factors and criteria that influence and shape resource allocation decisions for publically funded predictive genetic testing in Canada. Methods The authors conducted semi-structured interviews with 16 senior lab directors and clinicians at publically funded Canadian predictive genetic testing facilities. Participants were drawn from British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia. Given the community sampled was identified as being relatively small and challenging to access, purposive sampling coupled with snowball sampling methodologies were utilized. Results Surveyed lab directors and clinicians indicated that predictive genetic tests were funded provincially by one of two predominant funding models, but they themselves played a significant role in how these funds were allocated for specific tests and services. They also rated and identified several factors that influenced allocation decisions and patients' decisions regarding testing. Lastly, participants provided recommendations regarding changes to existing allocation models and showed support for a national evaluation process for predictive testing. Conclusion Our findings suggest that largely local and relatively ad hoc decision making processes are being made in relation to resource allocations for predictive genetic tests and that a more coordinated and, potentially, national approach to allocation decisions in this context may be appropriate.

  6. Thermally stimulated depolarization current studies of sulfonated polystyrene ionomers

    Science.gov (United States)

    Carvalho, Antonio José Felix; Viana, Vicente Galber Freitas; Faria, Roberto Mendonça

    2009-12-01

    A detailed study of thermally stimulated depolarization current (TSDC) was carried out to investigate dipolar relaxation and the charge storage phenomenon in films of sulfonated polystyrene (SPS) ionomers having lithium or potassium as counterions. Differential scanning calorimetry measurements were also applied as a complementary technique, mainly to follow the change of the glass transition temperature with the amount of sulfonated groups. It was observed that, since the glass transition does not change significantly with the amount of sulfonated groups, a cluster of multiplets is expected not to be formed in the range used in this work. TSDC of SPS samples polarized at temperatures higher than the glass transition temperature showed three peaks: one at lower temperature (peak β), an intermediate peak (peak α), and a third that appeared at a temperature coincident with the polarization temperature (peak ρ). Quantitative information about trapping-detrapping and dipolar relaxation and their corresponding activation energies was determined by fittings of the deconvoluted peaks with kinetic relaxation processes.

  7. Thermally stimulated depolarization current studies of sulfonated polystyrene ionomers

    Energy Technology Data Exchange (ETDEWEB)

    Carvalho, Antonio Jose Felix [Universidade Federal de Sao Carlos, Laboratory of Polymers and Renewable Materials, Sorocaba, SP (Brazil); Viana, Vicente Galber Freitas [Universidade Federal do Piaui, Centro de Ciencias da Natureza, Teresina, PI (Brazil); Faria, Roberto Mendonca [USP, Instituto de Fisica de Sao Carlos, SP (Brazil)

    2009-12-15

    A detailed study of thermally stimulated depolarization current (TSDC) was carried out to investigate dipolar relaxation and the charge storage phenomenon in films of sulfonated polystyrene (SPS) ionomers having lithium or potassium as counterions. Differential scanning calorimetry measurements were also applied as a complementary technique, mainly to follow the change of the glass transition temperature with the amount of sulfonated groups. It was observed that, since the glass transition does not change significantly with the amount of sulfonated groups, a cluster of multiplets is expected not to be formed in the range used in this work. TSDC of SPS samples polarized at temperatures higher than the glass transition temperature showed three peaks: one at lower temperature (peak {beta}), an intermediate peak (peak {alpha}), and a third that appeared at a temperature coincident with the polarization temperature (peak {rho}). Quantitative information about trapping-detrapping and dipolar relaxation and their corresponding activation energies was determined by fittings of the deconvoluted peaks with kinetic relaxation processes. (orig.)

  8. Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study.

    Science.gov (United States)

    Neupane, Binod; Beyene, Joseph

    2015-01-01

    In a meta-analysis with multiple end points of interests that are correlated between or within studies, multivariate approach to meta-analysis has a potential to produce more precise estimates of effects by exploiting the correlation structure between end points. However, under random-effects assumption the multivariate estimation is more complex (as it involves estimation of more parameters simultaneously) than univariate estimation, and sometimes can produce unrealistic parameter estimates. Usefulness of multivariate approach to meta-analysis of the effects of a genetic variant on two or more correlated traits is not well understood in the area of genetic association studies. In such studies, genetic variants are expected to roughly maintain Hardy-Weinberg equilibrium within studies, and also their effects on complex traits are generally very small to modest and could be heterogeneous across studies for genuine reasons. We carried out extensive simulation to explore the comparative performance of multivariate approach with most commonly used univariate inverse-variance weighted approach under random-effects assumption in various realistic meta-analytic scenarios of genetic association studies of correlated end points. We evaluated the performance with respect to relative mean bias percentage, and root mean square error (RMSE) of the estimate and coverage probability of corresponding 95% confidence interval of the effect for each end point. Our simulation results suggest that multivariate approach performs similarly or better than univariate method when correlations between end points within or between studies are at least moderate and between-study variation is similar or larger than average within-study variation for meta-analyses of 10 or more genetic studies. Multivariate approach produces estimates with smaller bias and RMSE especially for the end point that has randomly or informatively missing summary data in some individual studies, when the missing data

  9. Debating the future of genetically modified plants - bridging knowledge dimensions. A technology foresight study

    DEFF Research Database (Denmark)

    Borch, Kristian; Rasmussen, Birgitte

    2003-01-01

    to offer a coordinating method for developing and strengthening those linkages. To test this, a technological foresight study was performed on genetically modified (GM) crop technology in the Danish context. Thebackground to the study was the conflict and intense debate in Denmark over applications of gene...... technology, and especially over the deliberate release of GM crops. However, the current debate characteristically involves sharply opposed fronts. In it,stakeholders and experts on both side of the conflict advocate widely differing opinions. Without a proper, generally intelligible dialogue, the broader...... public audience finds it hard to comprehend this type of debate. The study pursues the notion thatpublic dialogue can act as a driver of future applications in the technological domain, specifically GM crops. The study concluded with a stakeholder workshop that revealed three key issues that might...

  10. MODEL STUDY OF THE DOUBLE FED MACHINE WITH CURRENT CONTROL

    Directory of Open Access Journals (Sweden)

    A. S. Lyapin

    2016-07-01

    Full Text Available The paper deals with modeling results of the double fed induction machine with current control in the rotor circuit. We show the most promising applications of electric drives on the basis of the double fed induction machine and their advantages. We present and consider functional scheme of the electric drive on the basis of the double fed induction machine with current control. Equations are obtained for creation of such machine mathematical model. Expressions for vector projections of rotor current are given. According to the obtained results, the change of the vector projections of rotor current ensures operation of the double fed induction machine with the specified values of active and reactive stator power throughout the variation range of sliding motion. We consider static characteristics of double fed machine with current control. Energy processes proceeding in the machine are analyzed. We confirm the operationpossibility of double fed induction machine with current controlin the rotor circuit with given values of active and reactive stator power. The presented results can be used for creation of mathematical models and static characteristics of double fed machines with current control of various capacities.

  11. Cannabis Controversies: How genetics can inform the study of comorbidity

    Science.gov (United States)

    Agrawal, Arpana; Lynskey, Michael T.

    2014-01-01

    Aims To review three key and controversial comorbidities of cannabis use – other illicit drug use, psychosis and depression as well as suicide, from a genetically informed perspective. Design Selective review. Results Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Conclusions Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. PMID:24438181

  12. The Dutch String-of-Pearls Stroke Study : Protocol of a large prospective multicenter genetic cohort study

    NARCIS (Netherlands)

    Nederkoorn, Paul J.; van Dijk, Ewoud J.; Koudstaal, Peter J.; Luijckx, Gert Jan; van Oostenbrugge, Robert J.; Visser, Marieke C.; Wermer, Marieke J H; Ruigrok, Ynte M.; Algra, Ale; Kappelle, L. Jaap; Luitse, Merel; Zweedijk, Berber; Rinkel, Gabriel J.; Baharoglu, Irem; Ek-Post, Mineke; Messchendorp, Gert; van de Minne, Friedus; Oostenbrugge, Robert J.; Loos, Caroline M J; Lindl, Annemieke; Fonville, Susanne; Scheele, Maaike; Hamming, Arend M.; Janssen, Kirsten; Wilbers, Joyce

    2015-01-01

    Background: In the last couple of years, genome-wide association studies have largely altered the scope in genetic research in diseases in which both environmental and genetic risk factors contribute to the disease. To date, the genetic risk loci identified in stroke have lagged behind those in

  13. The Dutch String-of-Pearls Stroke Study : Protocol of a large prospective multicenter genetic cohort study

    NARCIS (Netherlands)

    Nederkoorn, Paul J.; van Dijk, Ewoud J.; Koudstaal, Peter J.; Luijckx, Gert-Jan; van Oostenbrugge, Robert J.; Visser, Marieke C.; Wermer, Marieke J. H.; Ruigrok, Ynte M.; Algra, Ale; Kappelle, L. Jaap

    Background In the last couple of years, genome-wide association studies have largely altered the scope in genetic research in diseases in which both environmental and genetic risk factors contribute to the disease. To date, the genetic risk loci identified in stroke have lagged behind those in other

  14. What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

    Science.gov (United States)

    Guimarães, Lídia; Sequeiros, Jorge; Skirton, Heather; Paneque, Milena

    2013-08-01

    Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

  15. Study of wavelet transform type high-current transformer

    Institute of Scientific and Technical Information of China (English)

    卢文科; 朱长纯; 刘君华; 张建军

    2002-01-01

    The wavelet transformation is applied to the high-current transformer.The high-current transformer elaborated in the paper is mainly applied to the measurement of AC/DC high-current.The principle of the transformer is the Hall direct-measurement principle.The transformer has the following three characteristics:firstly, the effect of the remnant field of the iron core on the measurement is decreased;secondly,because the temperature compensation is adopted,the transformer has good temperature charactreristic;thirdly,be-cause the wavelet transfomation technology is adopted,the transformer has the capacity of good antijanming.

  16. Cost-of-illness studies : a review of current methods.

    Science.gov (United States)

    Akobundu, Ebere; Ju, Jing; Blatt, Lisa; Mullins, C Daniel

    2006-01-01

    The number of cost-of-illness (COI) studies has expanded considerably over time. One outcome of this growth is that the reported COI estimates are inconsistent across studies, thereby raising concerns over the validity of the estimates and methods. Several factors have been identified in the literature as reasons for the observed variation in COI estimates. To date, the variation in the methods used to calculate costs has not been examined in great detail even though the variations in methods are a major driver of variation in COI estimates. The objective of this review was to document the variation in the methodologies employed in COI studies and to highlight the benefits and limitations of these methods. The review of COI studies was implemented following a four-step procedure: (i) a structured literature search of MEDLINE, JSTOR and EconLit; (ii) a review of abstracts using pre-defined inclusion and exclusion criteria; (iii) a full-text review using pre-defined inclusion and exclusion criteria; and (iv) classification of articles according to the methods used to calculate costs. This review identified four COI estimation methods (Sum_All Medical, Sum_Diagnosis Specific, Matched Control and Regression) that were used in categorising articles. Also, six components of direct medical costs and five components of indirect/non-medical costs were identified and used in categorising articles.365 full-length articles were reflected in the current review following the structured literature search. The top five cost components were emergency room/inpatient hospital costs, outpatient physician costs, drug costs, productivity losses and laboratory costs. The dominant method, Sum_Diagnosis Specific, was a total costing approach that restricted the summation of medical expenditures to those related to a diagnosis of the disease of interest. There was considerable variation in the methods used within disease subcategories. In several disease subcategories (e.g. asthma, dementia

  17. Candidate Endophenotypes for Genetic Studies of Suicidal Behavior

    Science.gov (United States)

    Mann, J. John; Arango, Victoria A.; Avenevoli, Shelli; Brent, David A.; Champagne, Frances A.; Clayton, Paula; Currier, Dianne; Dougherty, Donald M.; Haghighi, Fatemah; Hodge, Susan E.; Kleinman, Joel; Lehner, Thomas; McMahon, Francis; Mościcki, Eve K.; Oquendo, Maria A.; Pandey, Ganshayam N.; Pearson, Jane; Stanley, Barbara; Terwilliger, Joseph; Wenzel, Amy

    2012-01-01

    Twin, adoption, and family studies have established the heritability of suicide attempts and suicide. Identifying specific suicide diathesis-related genes has proven more difficult. As with psychiatric disorders in general, methodological difficulties include complexity of the phenotype for suicidal behavior and distinguishing suicide diathesis-related genes from genes associated with mood disorders and other suicide-associated psychiatric illness. Adopting an endophenotype approach involving identification of genes associated with heritable intermediate phenotypes, including biological and/or behavioral markers more proximal to genes, is an approach being used for other psychiatric disorders. Therefore, a workshop convened by the American Foundation for Suicide Prevention, the Department of Psychiatry at Columbia University, and the National Institute of Mental Health sought to identify potential target endophenotypes for genetic studies of suicidal behavior. The most promising endophenotypes were trait aggression/impulsivity, early-onset major depression, neurocognitive function, and cortisol social stress response. Other candidate endophenotypes requiring further investigation include serotonergic neurotransmission, second messenger systems, and borderline personality disorder traits. PMID:19201395

  18. Genetic variability and correlation studies in sunflower (Helianthus annuus L.

    Directory of Open Access Journals (Sweden)

    Sheshaiah and Shankergoud I.

    2015-06-01

    Full Text Available The present study was conducted in order to investigate genetic variability and to understand the relationship and contribution of characters towards total dry matter and root length. The investigation was carried out at Main Agricultural Research Station, UAS, Raichur during Rabi 2012-13, 32 genotypes were evaluated in RBD fashion under root structures. At flowering stage all morphological and root characters were scored. The total dry matter content was assessed after drying the root, stem, leaf, petiole and flower of the plant at 70 0C in an oven.. High GCV coupled with high PCV recorded for most of the characters except stem girth, SPAD reading and number of leaves, indicating more variability for these traits and are less influenced by the environment. High heritability coupled with high GAM reported for all the traits under study suggested for the greater effectiveness for selection and improvement expected for these traits in future generations. The total dry matter and root length had very highly significant positive association with plant height, root volume, fresh root weight, dry root weight, fresh stem weight, dry stem weight, fresh leaf weight and dry leaf weight indicating the importance of root characters in determining the moisture stress tolerance and putforthing the total dry matter content of the plant.

  19. Study on UPF Harmonic Current Detection Method Based on DSP

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, H J [Northwestern Polytechnical University, Xi' an 710072 (China); Pang, Y F [Xi' an University of Technology, Xi' an 710048 (China); Qiu, Z M [Xi' an University of Technology, Xi' an 710048 (China); Chen, M [Northwestern Polytechnical University, Xi' an 710072 (China)

    2006-10-15

    Unity power factor (UPF) harmonic current detection method applied to active power filter (APF) is presented in this paper. The intention of this method is to make nonlinear loads and active power filter in parallel to be an equivalent resistance. So after compensation, source current is sinusoidal, and has the same shape of source voltage. Meanwhile, there is no harmonic in source current, and the power factor becomes one. The mathematic model of proposed method and the optimum project for equivalent low pass filter in measurement are presented. Finally, the proposed detection method applied to a shunt active power filter experimental prototype based on DSP TMS320F2812 is developed. Simulation and experiment results indicate the method is simple and easy to implement, and can obtain the real-time calculation of harmonic current exactly.

  20. Durability Study of SOFCs Under Cycling Current Load Conditions

    DEFF Research Database (Denmark)

    Hagen, Anke; Hendriksen, Peter Vang; Frandsen, Henrik Lund;

    2009-01-01

    In fuel cell applications, the cells must be able to withstand varying operating conditions. Anode supported solid oxide fuel cells were tested under cycling current load in order to determine the durability and possibly identify degradation mechanisms. At 750 °C and a cycling between zero and 0.......75 A cm-2, the cell voltage degradation rate was similar to tests with the corresponding high constant current density. However, by analyzing the impedance spectra it was found that anode degradation was becoming more important when going from constant to cycling conditions. Running the cycling load tests...... at 850 °C, the cells degraded similarly as under the corresponding constant current load whereas, in some cases, cells failed mechanically after a few hundred hours. These cells did not experience severe additional degradation due to the cycling of the current density until the point of failure...

  1. Analytical strategies for discovery and replication of genetic effects in pharmacogenomic studies

    Directory of Open Access Journals (Sweden)

    Kohler JR

    2014-08-01

    Full Text Available Jared R Kohler, Tobias Guennel, Scott L MarshallBioStat Solutions, Inc., Frederick, MD, USAAbstract: In the past decade, the pharmaceutical industry and biomedical research sector have devoted considerable resources to pharmacogenomics (PGx with the hope that understanding genetic variation in patients would deliver on the promise of personalized medicine. With the advent of new technologies and the improved collection of DNA samples, the roadblock to advancements in PGx discovery is no longer the lack of high-density genetic information captured on patient populations, but rather the development, adaptation, and tailoring of analytical strategies to effectively harness this wealth of information. The current analytical paradigm in PGx considers the single-nucleotide polymorphism (SNP as the genomic feature of interest and performs single SNP association tests to discover PGx effects – ie, genetic effects impacting drug response. While it can be straightforward to process single SNP results and to consider how this information may be extended for use in downstream patient stratification, the rate of replication for single SNP associations has been low and the desired success of producing clinically and commercially viable biomarkers has not been realized. This may be due to the fact that single SNP association testing is suboptimal given the complexities of PGx discovery in the clinical trial setting, including: 1 relatively small sample sizes; 2 diverse clinical cohorts within and across trials due to genetic ancestry (potentially impacting the ability to replicate findings; and 3 the potential polygenic nature of a drug response. Subsequently, a shift in the current paradigm is proposed: to consider the gene as the genomic feature of interest in PGx discovery. The proof-of-concept study presented in this manuscript demonstrates that genomic region-based association testing has the potential to improve the power of detecting single SNP or

  2. Study of lower hybrid current drive for the demonstration reactor

    Energy Technology Data Exchange (ETDEWEB)

    Molavi-Choobini, Ali Asghar [Dept. of Physics, Faculty of Engineering, Islamic Azad University, Shahr-e-kord Branch, Shahr-e-kord (Iran, Islamic Republic of); Naghidokht, Ahmed [Dept. of Physics, Urmia University, Urmia (Iran, Islamic Republic of); Karami, Zahra [Dept. of Engineering, Islamic Azad University, Zanjan Branch, Zanjan (Iran, Islamic Republic of)

    2016-06-15

    Steady-state operation of a fusion power plant requires external current drive to minimize the power requirements, and a high fraction of bootstrap current is required. One of the external sources for current drive is lower hybrid current drive, which has been widely applied in many tokamaks. Here, using lower hybrid simulation code, we calculate electron distribution function, electron currents and phase velocity changes for two options of demonstration reactor at the launched lower hybrid wave frequency 5 GHz. Two plasma scenarios pertaining to two different demonstration reactor options, known as pulsed (Option 1) and steady-state (Option 2) models, have been analyzed. We perceive that electron currents have major peaks near the edge of plasma for both options but with higher efficiency for Option 1, although we have access to wider, more peripheral regions for Option 2. Regarding the electron distribution function, major perturbations are at positive velocities for both options for flux surface 16 and at negative velocities for both options for flux surface 64.

  3. Current perspectives and the future of domestication studies.

    Science.gov (United States)

    Larson, Greger; Piperno, Dolores R; Allaby, Robin G; Purugganan, Michael D; Andersson, Leif; Arroyo-Kalin, Manuel; Barton, Loukas; Climer Vigueira, Cynthia; Denham, Tim; Dobney, Keith; Doust, Andrew N; Gepts, Paul; Gilbert, M Thomas P; Gremillion, Kristen J; Lucas, Leilani; Lukens, Lewis; Marshall, Fiona B; Olsen, Kenneth M; Pires, J Chris; Richerson, Peter J; Rubio de Casas, Rafael; Sanjur, Oris I; Thomas, Mark G; Fuller, Dorian Q

    2014-04-29

    It is difficult to overstate the cultural and biological impacts that the domestication of plants and animals has had on our species. Fundamental questions regarding where, when, and how many times domestication took place have been of primary interest within a wide range of academic disciplines. Within the last two decades, the advent of new archaeological and genetic techniques has revolutionized our understanding of the pattern and process of domestication and agricultural origins that led to our modern way of life. In the spring of 2011, 25 scholars with a central interest in domestication representing the fields of genetics, archaeobotany, zooarchaeology, geoarchaeology, and archaeology met at the National Evolutionary Synthesis Center to discuss recent domestication research progress and identify challenges for the future. In this introduction to the resulting Special Feature, we present the state of the art in the field by discussing what is known about the spatial and temporal patterns of domestication, and controversies surrounding the speed, intentionality, and evolutionary aspects of the domestication process. We then highlight three key challenges for future research. We conclude by arguing that although recent progress has been impressive, the next decade will yield even more substantial insights not only into how domestication took place, but also when and where it did, and where and why it did not.

  4. Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

    Science.gov (United States)

    Drew, A P; Blair, I P; Nicholson, G A

    2011-11-01

    The distal hereditary motor neuropathies (dHMNs) are a clinically and genetically heterogeneous group of disorders that primarily affect motor neurons, without significant sensory involvement. New dHMN genes continue to be identified. There are now 11 causative genes described for dHMN, and an additional five genetic loci with unidentified genes. This genetic heterogeneity has further delineated the classification of dHMN, which was previously classified according to mode of inheritance, age at onset, and additional complicating features. Some overlap between phenotypically distinct forms of dHMN is also apparent. The mutated genes identified to-date in dHMN include HSPB1, HSPB8, HSPB3, DCTN1, GARS, PLEKHG5, BSCL2, SETX, IGHMBP2, ATP7A and TRPV4. The pathogenesis of mutations remains to be fully elucidated, however common pathogenic mechanisms are emerging. These include disruption of axonal transport, RNA processing defects, protein aggregation and inclusion body formation, disrupted calcium channel activity, and loss of neuroprotective signalling. Some of these dHMN genes are also mutated in Charcot-Marie-Tooth (CMT) disease and spinal muscular atrophy (SMA). This review examines the growing number of identified dHMN genes, discusses recent insights into the functions of these genes and possible pathogenic mechanisms, and looks at the increasing overlap between dHMN and the other neuropathies CMT2 and SMA.

  5. [Study on tests of genetics experiments in universities].

    Science.gov (United States)

    Jie, He; Hao, Zhang; Lili, Zhang

    2015-03-01

    Based on the present situation and the development of experiment tests in universities, we introduced a reform in tests of genetics experiments. According to the teaching goals and course contents of genetics experiment, the tests of genetics experiments contain four aspects on the performance of students: the adherence to the experimental procedures, the depth of participation in experiment, the quality of experiment report, and the mastery of experiment principles and skills, which account for 10 %, 20 %, 40 % and 30 % in the total scores, respectively. All four aspects were graded quantitatively. This evaluation system has been tested in our experiment teaching. The results suggest that it has an effect on the promotion of teaching in genetics experiments.

  6. Polymorphic microsatellite markers for genetic studies of African ...

    African Journals Online (AJOL)

    Administrator

    2011-09-26

    Sep 26, 2011 ... often defined by high diversity of wildlife and seasonal ungulates migrations. The ecosystem ..... The molecular toolbox: genetic techniques in wildlife ecology and management. J. ... for European roe deer. Mol. Ecol. Notes, 3: ...

  7. Raman spectroscopic study of a genetically altered kidney cell

    Science.gov (United States)

    Joshi, Joel; Garcia, Francisco; Centeno, Silvia P.; Joshi, N. V.

    2008-02-01

    A Raman spectroscopic investigation of a genetically altered Human Embryonic Kidney Cell (HEK293) along with a pathologically normal cell has been carried out by a conventional method. The genetic alteration was carried out with a standard protocol by using a Green Fluorescence Protein (GFP). Raman spectra show that there are dramatic differences between the spectrum obtained from a genetically altered cell and that obtained from a pathologically normal cell. The former shows three broad bands; meanwhile the latter shows several sharp peaks corresponding to the ring vibrational modes of Phen, GFP and DNA. The present analysis provides an indication that the force field near Phen located at 64, 65 and 66 was altered during the genetic transformation. The Raman spectrum could be a direct experimental evidence for substantial modifications triggered due to the expression of specific genes.

  8. Study on genetic diversity in Pakistani wheat varieties using simple ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-09-01

    Sep 1, 2009 ... genetic diversity of 10 varieties of wheat (T. aestivum) were analyzed using 14 simple sequence repeat. (SSR) primer sets ... wheat every year. To increase .... All PCR reactions were carried out in 25 µl reaction containing 50 -.

  9. "Genetic Engineering" Gains Momentum (Science/Society Case Study).

    Science.gov (United States)

    Moore, John W.; Moore, Elizabeth A., Eds.

    1980-01-01

    Reviews the benefits and hazards of genetic engineering, or "recombinant-DNA" research. Recent federal safety rules issued by NIH which ease the strict prohibitions on recombinant-DNA research are explained. (CS)

  10. Dietary Magnesium and Genetic Interactions in Diabetes and Related Risk Factors: A Brief Overview of Current Knowledge

    Directory of Open Access Journals (Sweden)

    Adela Hruby

    2013-12-01

    Full Text Available Nutritional genomics has exploded in the last decade, yielding insights—both nutrigenomic and nutrigenetic—into the physiology of dietary interactions and our genes. Among these are insights into the regulation of magnesium transport and homeostasis and mechanisms underlying magnesium’s role in insulin and glucose handling. Recent observational evidence has attempted to examine some promising research avenues on interaction between genetics and dietary magnesium in relation to diabetes and diabetes risk factors. This brief review summarizes the recent evidence on dietary magnesium’s role in diabetes and related traits in the presence of underlying genetic risk, and discusses future potential research directions.

  11. Genetic influences on chronic obstructive pulmonary disease - a twin study

    DEFF Research Database (Denmark)

    Sylvan Ingebrigtsen, Truls; Thomsen, Simon Francis; Vestbo, Jørgen

    2010-01-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted.......Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted....

  12. Genetic influences on Chronic Obstructive Pulmonary Disease - a twin study

    DEFF Research Database (Denmark)

    Ingebrigtsen, Truls; Thomsen, Simon F; Vestbo, Jørgen

    2010-01-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted.......Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted....

  13. Biosynthetic Studies and Genetic Engineering of Pactamycin Analogs with Improved Selectivity toward Malarial Parasites

    National Research Council Canada - National Science Library

    Lu, Wanli; Roongsawang, Niran; Mahmud, Taifo

    2011-01-01

    .... However, through extensive biosynthetic studies and genetic engineering, we were able to produce analogs of pactamycin that show potent antimalarial activity, but lack significant antibacterial...

  14. An algorithm for the study of DNA sequence evolution based on the genetic code.

    Science.gov (United States)

    Sirakoulis, G Ch; Karafyllidis, I; Sandaltzopoulos, R; Tsalides, Ph; Thanailakis, A

    2004-11-01

    Recent studies of the quantum-mechanical processes in the DNA molecule have seriously challenged the principle that mutations occur randomly. The proton tunneling mechanism causes tautomeric transitions in base pairs resulting in mutations during DNA replication. The meticulous study of the quantum-mechanical phenomena in DNA may reveal that the process of mutagenesis is not completely random. We are still far away from a complete quantum-mechanical model of DNA sequence mutagenesis because of the complexity of the processes and the complex three-dimensional structure of the molecule. In this paper we have developed a quantum-mechanical description of DNA evolution and, following its outline, we have constructed a classical model for DNA evolution assuming that some aspects of the quantum-mechanical processes have influenced the determination of the genetic code. Conversely, our model assumes that the genetic code provides information about the quantum-mechanical mechanisms of mutagenesis, as the current code is the product of an evolutionary process that tries to minimize the spurious consequences of mutagenesis. Based on this model we develop an algorithm that can be used to study the accumulation of mutations in a DNA sequence. The algorithm has a user-friendly interface and the user can change key parameters in order to study relevant hypotheses.

  15. A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration

    Science.gov (United States)

    Simonett, Joseph M.; Sohrab, Mahsa A.; Pacheco, Jennifer; Armstrong, Loren L.; Rzhetskaya, Margarita; Smith, Maureen; Geoffrey Hayes, M.; Fawzi, Amani A.

    2015-01-01

    Age-related macular degeneration (AMD), a multifactorial, neurodegenerative disease, is a leading cause of vision loss. With the rapid advancement of DNA sequencing technologies, many AMD-associated genetic polymorphisms have been identified. Currently, the most time consuming steps of these studies are patient recruitment and phenotyping. In this study, we describe the development of an automated algorithm to identify neovascular (wet) AMD, non-neovascular (dry) AMD and control subjects using electronic medical record (EMR)-based criteria. Positive predictive value (91.7%) and negative predictive value (97.5%) were calculated using expert chart review as the gold standard to assess algorithm performance. We applied the algorithm to an EMR-linked DNA bio-repository to study previously identified AMD-associated single nucleotide polymorphisms (SNPs), using case/control status determined by the algorithm. Risk alleles of three SNPs, rs1061170 (CFH), rs1410996 (CFH), and rs10490924 (ARMS2) were found to be significantly associated with the AMD case/control status as defined by the algorithm. With the rapid growth of EMR-linked DNA biorepositories, patient selection algorithms can greatly increase the efficiency of genetic association study. We have found that stepwise validation of such an algorithm can result in reliable cohort selection and, when coupled within an EMR-linked DNA biorepository, replicates previously published AMD-associated SNPs. PMID:26255974

  16. Air Quality Study Using Satellites - Current Capability and Future Plans

    Science.gov (United States)

    Bhartia, Pawan K.; Joiner, Joanna; Gleason, James; Liu, Xiong; Torres, Omar; Krotkov, Nickolay; Ziemke, Jerry; Chandra, Sushil

    2008-01-01

    Satellite instruments have had great success in monitoring the stratospheric ozone and in understanding the processes that control its daily to decadal scale variations. This field is now reaching its zenith with a number of satellite instruments from the US, Europe and Canada capping several decades of active research in this field. The primary public policy imperative of this research was to make reliable prediction of increases in biologically active surface UV radiation due to human activity. By contrast retrieval from satellite data of atmospheric constituents and photo-chemically active radiation that affect air quality is a new and growing field that is presenting us with unique challenges in measurement and data interpretation. A key distinction compared to stratospheric sensors is the greatly enhanced role of clouds, aerosols, and surfaces (CAS) in determining the quality and quantity of useful data that is available for air quality research. In our presentation we will use data from several sensors that are currently flying on the A-train satellite constellation, including OMI, MODIS, CLOUDSAT, and CALIPSO, to highlight that CAS can have both positive and negative effects on the information content of satellite measurements. This is in sharp contrast to other fields of remote sensing where CAS are usually considered an interference except in those cases when they are the primary subject of study. Our analysis has revealed that in the reflected wavelengths one often sees much further down into the atmosphere, through most cirrus, than one does in the emitted wavelengths. The lower level clouds provide a nice background against which one can track long-range transport of trace gases and aerosols. In addition, differences in trace gas columns estimated over cloudy and adjacent clear pixels can be used to measure boundary layer trace gases. However, in order to take full advantage of these features it will be necessary to greatly advance our understanding of

  17. Genetic models for the study of luteinizing hormone receptor function

    Directory of Open Access Journals (Sweden)

    Prema eNarayan

    2015-09-01

    Full Text Available The luteinizing hormone/chorionic gonadotropin receptor, LHCGR, is essential for fertility in men and women. LHCGR binds luteinizing hormone (LH as well as the highly homologous chorionic gonadotropin (CG. Signaling from LHCGR is required for steroidogenesis and gametogenesis in males and females and for sexual differentiation in the male. The importance of LHCGR in reproductive physiology is underscored by the large number of naturally occurring inactivating and activating mutations in the receptor that result in reproductive disorders. Consequently, several genetically modified mouse models have been developed for the study of LHCGR function. They include targeted deletion of LH and LHCGR that mimic inactivating mutations in hormone and receptor, expression of a constitutively active mutant in LHCGR that mimics activating mutations associated with familial male-limited precocious puberty and transgenic models of LH and hCG overexpression. This review summarizes the salient findings from these models and their utility in understanding the physiological and pathological consequences of loss and gain of function in LHCGR signaling.

  18. A genetic study on attention problems and academic skills: results of a longitudinal study in twins

    NARCIS (Netherlands)

    Polderman, T.J.C.; Huizink, A.C.; Verhulst, F.C.; van Beijsterveldt, C.E.M.; Boomsma, D.I.; Bartels, M.

    2011-01-01

    Objective Several studies reported a negative association between ADHD symptoms and academic achievement. We investigated the etiology of the association between Attention Problems (AP, one of the core symptoms in ADHD) in early childhood and four academic skills across childhood in a genetically in

  19. Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies

    Science.gov (United States)

    Bezdjian, Serena; Baker, Laura A.; Tuvblad, Catherine

    2011-01-01

    A meta-analysis of twin, family and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on impulsivity. The best fitting model for 41 key studies (58 independent samples from 14 month old infants to adults; N = 27,147) included equal proportions of variance due to genetic (0.50) and non-shared environmental (0.50) influences, with genetic effects being both additive (0.38) and non-additive (0.12). Shared environmental effects were unimportant in explaining individual differences in impulsivity. Age, sex, and study design (twin vs. adoption) were all significant moderators of the magnitude of genetic and environmental influences on impulsivity. The relative contribution of genetic effects (broad sense heritability) and unique environmental effects were also found to be important throughout development from childhood to adulthood. Total genetic effects were found to be important for all ages, but appeared to be strongest in children. Analyses also demonstrated that genetic effects appeared to be stronger in males than in females. Method of assessment (laboratory tasks vs. questionnaires), however, was not a significant moderator of the genetic and environmental influences on impulsivity. These results provide a structured synthesis of existing behavior genetic studies on impulsivity by providing a clearer understanding of the relative genetic and environmental contributions in impulsive traits through various stages of development. PMID:21889436

  20. Influence from genetic variability on opioid use for cancer pain: a European genetic association study of 2294 cancer pain patients

    DEFF Research Database (Denmark)

    Klepstad, P; Fladvad, T; Skorpen, F;

    2011-01-01

    Cancer pain patients need variable opioid doses. Preclinical and clinical studies suggest that opioid efficacy is related to genetic variability. However, the studies have small samples, findings are not replicated, and several candidate genes have not been studied. Therefore, a study of genetic...... mechanisms. The patients' mean age was 62.5 years, and the average pain intensity was 3.5. The patients' primary opioids were morphine (n=830), oxycodone (n=446), fentanyl (n=699), or other opioids (n=234). Pain intensity, time on opioids, age, gender, performance status, and bone or CNS metastases predicted......C, HTR3D, HTR3E, HTR1, or CNR1 showed significant associations with opioid dose in both the development and the validation analyzes. These findings do not support the use of pharmacogenetic analyses for the assessed SNPs to guide opioid treatment. The study also demonstrates the importance...

  1. Current Issues in the Neurology and Genetics of Learning-Related Traits and Disorders: Introduction to the Special Issue.

    Science.gov (United States)

    Gilger, Jeffrey W.

    2001-01-01

    This introductory article briefly describes each of the following eight articles in this special issue on the neurology and genetics of learning related disorders. It notes the greater appreciation of learning disability as a set of complex disorders with broad and intricate neurological bases and of the large individual differences in how these…

  2. The release of genetically modified crops into the environment - Part I. Overview of current status and regulations

    NARCIS (Netherlands)

    Nap, J.P.H.; Metz, P.L.J.; Escaler, M.; Conner, A.J.

    2003-01-01

    In the past 6 years, the global area of commercially grown, genetically modified (GM) crops has increased more than 30-fold to over 52 million hectares. The number of countries involved has more than doubled. Especially in developing countries, the GM crop area is anticipated to increase rapidly in

  3. Aquaculture genomics, genetics and breeding in the United States: current status, challenges, and priorities for future research

    Science.gov (United States)

    The ultimate goals of aquaculture genomics, genetics and breeding research are to enhance aquaculture production efficiency, sustainability, product quality, and profitability in support of the commercial sector and for the benefit of consumers. In order to achieve these goals, it is important to un...

  4. Current understanding of the interplay between catechol-O-methyltransferase genetic variants, sleep, brain development and cognitive performance in schizophrenia

    NARCIS (Netherlands)

    Tucci, Valter; Lassi, Glenda; Kas, Martien J

    2012-01-01

    Abnormal sleep is an endophenotype of schizophrenia. Here we provide an overview of the genetic mechanisms that link specific sleep physiological processes to schizophrenia-related cognitive defects. In particular, we will review the possible relationships between catechol-O-methyltransferase (COMT)

  5. Current Issues in the Neurology and Genetics of Learning-Related Traits and Disorders: Introduction to the Special Issue.

    Science.gov (United States)

    Gilger, Jeffrey W.

    2001-01-01

    This introductory article briefly describes each of the following eight articles in this special issue on the neurology and genetics of learning related disorders. It notes the greater appreciation of learning disability as a set of complex disorders with broad and intricate neurological bases and of the large individual differences in how these…

  6. A genome-wide Asian genetic map and ethnic comparison: The GENDISCAN study

    Directory of Open Access Journals (Sweden)

    Sung Joohon

    2008-11-01

    Full Text Available Abstract Background Genetic maps provide specific positions of genetic markers, which are required for performing genetic studies. Linkage analyses of Asian families have been performed with Caucasian genetic maps, since appropriate genetic maps of Asians were not available. Different ethnic groups may have different recombination rates as a result of genomic variations, which would generate misspecification of the genetic map and reduce the power of linkage analyses. Results We constructed the genetic map of a Mongolian population in Asia with CRIMAP software. This new map, called the GENDISCAN map, is based on genotype data collected from 1026 individuals of 73 large Mongolian families, and includes 1790 total and 1500 observable meioses. The GENDISCAN map provides sex-averaged and sex-specific genetic positions of 1039 microsatellite markers in Kosambi centimorgans (cM with physical positions. We also determined 95% confidence intervals of genetic distances of the adjacent marker intervals. Genetic lengths of the whole genome, chromosomes and adjacent marker intervals are compared with those of Rutgers Map v.2, which was constructed based on Caucasian populations (Centre d'Etudes du Polymorphisme Humain (CEPH and Icelandic families by mapping methods identical to those of the GENDISCAN map, CRIMAP software and the Kosambi map function. Mongolians showed approximately 1.9 fewer recombinations per meiosis than Caucasians. As a result, genetic lengths of the whole genome and chromosomes of the GENDISCAN map are shorter than those of Rutgers Map v.2. Thirty-eight marker intervals differed significantly between the Mongolian and Caucasian genetic maps. Conclusion The new GENDISCAN map is applicable to the genetic study of Asian populations. Differences in the genetic distances between the GENDISCAN and Caucasian maps could facilitate elucidation of genomic variations between different ethnic groups.

  7. A Software Pattern of the Genetic Algorithm -a Study on Reusable Object Model of Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    The Genetic Algorithm (GA) has been a pop research field, butthere is little concern on GA in view of Software Engineering and this result in a serie s of problems. In this paper, we extract a GA's software pattern, draw a model d iagram of the reusable objects, analyze the advantages and disadvantages of the pattern, and give a sample code at the end. We are then able to improve the reus ability and expansibility of GA. The results make it easier to program a new GA code by using some existing successful operators, thereby reducing the difficult ies and workload of programming a GA's code, and facilitate the GA application.

  8. Impact of informing overweight individuals about the role of genetics in obesity: an online experimental study.

    Science.gov (United States)

    Lippa, Natalie C; Sanderson, Saskia C

    2013-01-01

    Increasing public awareness of obesity genetics could have beneficial or harmful effects on overweight individuals. This study examined the impact of genetic information on weight-related cognitions as well as interest in personalized genetic information about obesity among overweight individuals. Online survey respondents (n = 655) were randomly assigned to read either genetic, gene-environment, or nongenetic obesity causal information. Fifty-two percent of the participants were female, 82.4% were White, 45% had an annual income of USD genetic and gene-environment conditions were more likely to believe genetics increase obesity risk than participants in the nongenetic condition (both p genetic information about their obesity risk. Dissemination of information about obesity genetics may have neither a beneficial nor a harmful impact on how overweight individuals perceive themselves. Some overweight individuals may be interested in receiving personalized genetic information. The actual effects of obesity genetic information being incorporated into public health messages and of personalized genetic information on obesity prevention and treatment interventions remain to be seen. © 2013 S. Karger AG, Basel.

  9. Frontiers of torenia research: innovative ornamental traits and study of ecological interaction networks through genetic engineering.

    Science.gov (United States)

    Nishihara, Masahiro; Shimoda, Takeshi; Nakatsuka, Takashi; Arimura, Gen-Ichiro

    2013-06-26

    Advances in research in the past few years on the ornamental plant torenia (Torenia spps.) have made it notable as a model plant on the frontier of genetic engineering aimed at studying ornamental characteristics and pest control in horticultural ecosystems. The remarkable advantage of torenia over other ornamental plant species is the availability of an easy and high-efficiency transformation system for it. Unfortunately, most of the current torenia research is still not very widespread, because this species has not become prominent as an alternative to other successful model plants such as Arabidopsis, snapdragon and petunia. However, nowadays, a more global view using not only a few selected models but also several additional species are required for creating innovative ornamental traits and studying horticultural ecosystems. We therefore introduce and discuss recent research on torenia, the family Scrophulariaceae, for secondary metabolite bioengineering, in which global insights into horticulture, agriculture and ecology have been advanced. Floral traits, in torenia particularly floral color, have been extensively studied by manipulating the flavonoid biosynthetic pathways in flower organs. Plant aroma, including volatile terpenoids, has also been genetically modulated in order to understand the complicated nature of multi-trophic interactions that affect the behavior of predators and pollinators in the ecosystem. Torenia would accordingly be of great use for investigating both the variation in ornamental plants and the infochemical-mediated interactions with arthropods.

  10. Influence from genetic variability on opioid use for cancer pain: a European genetic association study of 2294 cancer pain patients

    DEFF Research Database (Denmark)

    Klepstad, P; Fladvad, T; Skorpen, F;

    2011-01-01

    Cancer pain patients need variable opioid doses. Preclinical and clinical studies suggest that opioid efficacy is related to genetic variability. However, the studies have small samples, findings are not replicated, and several candidate genes have not been studied. Therefore, a study of genetic...... variability with opioid doses in a large population using a confirmatory validation population was warranted. We recruited 2294 adult European patients using a World Health Organization (WHO) step III opioid and analyzed single nucleotide polymorphisms (SNPs) in genes with a putative influence on opioid...... mechanisms. The patients' mean age was 62.5 years, and the average pain intensity was 3.5. The patients' primary opioids were morphine (n=830), oxycodone (n=446), fentanyl (n=699), or other opioids (n=234). Pain intensity, time on opioids, age, gender, performance status, and bone or CNS metastases predicted...

  11. [Study on the maximum entropy principle and population genetic equilibrium].

    Science.gov (United States)

    Zhang, Hong-Li; Zhang, Hong-Yan

    2006-03-01

    A general mathematic model of population genetic equilibrium about one locus was constructed based on the maximum entropy principle by WANG Xiao-Long et al. They proved that the maximum solve of the model was just the frequency distribution that a population reached Hardy-Weinberg genetic equilibrium. It can suggest that a population reached Hardy-Weinberg genetic equilibrium when the genotype entropy of the population reached the maximal possible value, and that the frequency distribution of the maximum entropy was equivalent to the distribution of Hardy-Weinberg equilibrium law about one locus. They further assumed that the frequency distribution of the maximum entropy was equivalent to all genetic equilibrium distributions. This is incorrect, however. The frequency distribution of the maximum entropy was only equivalent to the distribution of Hardy-Weinberg equilibrium with respect to one locus or several limited loci. The case with regard to limited loci was proved in this paper. Finally we also discussed an example where the maximum entropy principle was not the equivalent of other genetic equilibria.

  12. Mixing omics: combining genetics and metabolomics to study rheumatic diseases.

    Science.gov (United States)

    Menni, Cristina; Zierer, Jonas; Valdes, Ana M; Spector, Tim D

    2017-03-01

    Metabolomics is an exciting field in systems biology that provides a direct readout of the biochemical activities taking place within an individual at a particular point in time. Metabolite levels are influenced by many factors, including disease status, environment, medications, diet and, importantly, genetics. Thanks to their dynamic nature, metabolites are useful for diagnosis and prognosis, as well as for predicting and monitoring the efficacy of treatments. At the same time, the strong links between an individual's metabolic and genetic profiles enable the investigation of pathways that underlie changes in metabolite levels. Thus, for the field of metabolomics to yield its full potential, researchers need to take into account the genetic factors underlying the production of metabolites, and the potential role of these metabolites in disease processes. In this Review, the methodological aspects related to metabolomic profiling and any potential links between metabolomics and the genetics of some of the most common rheumatic diseases are described. Links between metabolomics, genetics and emerging fields such as the gut microbiome and proteomics are also discussed.

  13. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  14. Genetic Pathways to Insomnia

    Directory of Open Access Journals (Sweden)

    Mackenzie J. Lind

    2016-12-01

    Full Text Available This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene, followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS. Next, we summarize the most recent gene identification efforts (primarily GWAS results and propose several potential mechanisms through which identified genes may contribute to the disorder. Finally, we discuss new genetic approaches and how these may prove useful for insomnia, proposing an agenda for future insomnia genetics research.

  15. Deterministic and Stochastic Study of Wind Farm Harmonic Currents

    DEFF Research Database (Denmark)

    Sainz, Luis; Mesas, Juan Jose; Teodorescu, Remus;

    2010-01-01

    Wind farm harmonic emissions are a well-known power quality problem, but little data based on actual wind farm measurements are available in literature. In this paper, harmonic emissions of an 18 MW wind farm are investigated using extensive measurements, and the deterministic and stochastic...... characterization of wind farm harmonic currents is analyzed. Specific issues addressed in the paper include the harmonic variation with the wind farm operating point and the random characteristics of their magnitude and phase angle....

  16. Zinc electrowinning: anode conditioning and current distribution studies

    Energy Technology Data Exchange (ETDEWEB)

    Gonzalez, J.A. [Cominco Research, Cominco Ltd., Trail, British Columbia (Canada)

    2001-07-01

    In the zinc electrowinning (EW) process, Pb-Ag anodes are widely used. Prior to their use in the EW process, anodes are conditioned to form a stable oxide layer that can evolve O{sub 2} without excessive Pb contamination of the cathode and MnO{sub 2} precipitation. The most widely used conditioning techniques are: passivation in a KF-H{sub 2}SO{sub 4} electrolysis bath, chemical oxidation in a KMnO{sub 4}-H{sub 2}SO{sub 4} solution, and sandblasting. In this paper, a comparison of these treatments using flat and corrugated anodes is presented. Laboratory and industrial-scale tests carried out at Cominco's Trail and Cajamarquilla zinc plants indicated that flat anodes should be sandblasted or electrochemically passivated before their use in the Zn electrowinning process. Further, corrugated anodes should be sandblasted or chemically conditioned in a KMnO{sub 4}-H{sub 2}SO{sub 4} -electrolyte. The beneficial effects of chemical conditioning are lost if the anode is non-corrugated. Flat, chemically conditioned anodes generate up to 10 times more mud than corrugated-chemically conditioned anodes. Because anode mud growth is evenly distributed on sandblasted anodes, short-circuit frequency may decrease and anode life may increase. Sandblasting does not appear to affect anode performance. Parallel to the industrial anode conditioning tests, current distribution measurements were made. Current flow measurements were used to correct troublesome electrodes and/or bad electrical contacts. In Cajamarquilla, this technique was used in four industrial electrowinning cells and energy consumption values lower than 3000 kWh/t Zn were obtained at current efficiencies as high as 95% and at current densities up to 450 A/m{sup 2}. (author)

  17. Sero-genetic studies on the Ambo of Namibia.

    Science.gov (United States)

    Nurse, G T; Dunn, D S; Rootman, A J; Jenkins, T

    1987-08-01

    The Ambo are the largest population group of Namibia/South West Africa and consist of seven geographical and sociopolitical entities speaking different dialects of a common language. Nearly 600 individuals representing all the dialect groups were tested for 23 sero-genetic systems: the results reveal no evidence of significant San admixture and unusual alleles suggest an affinity with the Herero which confirms oral traditions of a common origin. Genetic distance measurements indicate that the Dama may also have a connection with these peoples and it is probable that most of the Bantu-speaking Negroes of Namibia/South West Africa come from the same stock.

  18. Current PCR Methods for the Detection, Identification and Quantification of Genetically Modified Organisms(GMOs: a Brief Review

    Directory of Open Access Journals (Sweden)

    Gadani F

    2014-12-01

    Full Text Available Analytical methods based on the polymerase chain reaction (PCR technology are increasingly used for the detection of deoxyribonucleic acid (DNA sequences associated with genetically modified organisms (GMOs. In the European Union and Switzerland, mandatory labeling of novel foods and food ingredients consisting of, or containing GMOs is required according to food regulations and is triggered by the presence of newly introduced foreign DNA sequences, or newly expressed proteins. In order to meet regulatory and consumer demand, numerous PCR-based methods have been developed which can detect, identify and quantify GMOs in agricultural crops, food and feed. Moreover, the determination of genetic identity allows for segregation and traceability (identity preservation throughout the supply chain of GM crops that have been enhanced with value-added quality traits. Prerequisites for GMO detection include a minimum amount of the target gene and prior knowledge of the type of genetic modification, such as virus or insect resistance traits, including controlling elements (promoters and terminators. Moreover, DNA extraction and purification is a critical step for the preparation of PCR-quality samples, particularly for processed agricultural crops such as tobacco. This paper reviews the state-of-the-art of PCR-based method development for the qualitative and quantitative determination and identification of GMOs, and includes a short summary of official and validated GMO detection methods.

  19. Drosophila as a genetic and cellular model for studies on axonal growth

    Directory of Open Access Journals (Sweden)

    Whitington Paul

    2007-05-01

    Full Text Available Abstract One of the most fascinating processes during nervous system development is the establishment of stereotypic neuronal networks. An essential step in this process is the outgrowth and precise navigation (pathfinding of axons and dendrites towards their synaptic partner cells. This phenomenon was first described more than a century ago and, over the past decades, increasing insights have been gained into the cellular and molecular mechanisms regulating neuronal growth and navigation. Progress in this area has been greatly assisted by the use of simple and genetically tractable invertebrate model systems, such as the fruit fly Drosophila melanogaster. This review is dedicated to Drosophila as a genetic and cellular model to study axonal growth and demonstrates how it can and has been used for this research. We describe the various cellular systems of Drosophila used for such studies, insights into axonal growth cones and their cytoskeletal dynamics, and summarise identified molecular signalling pathways required for growth cone navigation, with particular focus on pathfinding decisions in the ventral nerve cord of Drosophila embryos. These Drosophila-specific aspects are viewed in the general context of our current knowledge about neuronal growth.

  20. [A decade of the RAPD method: possibilities and limitations for plant genetics relationship studies].

    Science.gov (United States)

    Xena de Enrech, N

    2000-01-01

    The RAPD method appeared a decade ago as an alternative in genetic relationship studies. The technique generates polymorphic band patterns, produced by PCR using arbitrary DNA sequence primers. If total DNA is used, RAPD yields abundant information about the analyzed genome in a rapid and inexpensive way. This information may be used in various types of plant genetic studies, such as hybrid detection, intra and interspecific genetic variation, genetic identity establishment, somaclonal variation analysis and, when combined with other methods, it helps in the elaboration of genetic maps. However, there are some requisites for its correct application. A strict control of working conditions is demanded. Furthermore, due to the anonymous character of polymorphic bands and the difficulties for establishing homologies, it is also recommended to confine RAPD uses to the specific or infra specific levels. Comparisons based on genetic distance calculations are accepted provided they do not require parsimony analysis methods.

  1. Study on the Ownership of Plant Genetic Resources on Farmers’ Land

    Institute of Scientific and Technical Information of China (English)

    Fuyou; WANG; Hongyan; SONG; Yuanyuan; HUANG

    2013-01-01

    In order to protect Chinese farmers’ sharing benefits and make legal preparation for accession to the International Treaty on Plant Genetic Resources for Food and Agriculture, this paper analyzed differences between state sovereignty and ownership of genetic resources and between natural resources and plant genetic resources on farmers’ land. Then, it studied the regulations of the United States, European Union and Indian on the ownership of plant genetic resources on farmers’ land. On the basis of the analysis and study, the authors stated that the sovereignty of plant genetic resources can not replace the ownership system. The plant genetic resources on farmers’ (community) land should be in the possession of farmers or communities, which should be confirmed by the State.

  2. Genetic study of Andalusia's ovine and caprine breeds.

    Science.gov (United States)

    Rodero, E; Haba, M R; Rodero, A

    1997-01-12

    Two different breeds of Andalusian sheep, 'Grazalema Merino' and 'Lebrijan Churro', and two different breeds of Andalusian goats, 'Andalusian White' and 'Andalusian Black', chosen by previous studies (Rodero et al. 1992a) as priority breeds for conservation, were studied. The systems used corresponded to ethnozootechnic characteristics, as well as the different biochemical-polymorphism variables. Farms were differentiated within breeds, or between themselves, and different tests were used of genetic and genotypic frequencies: Wright's indices, medium heterozygosities, Whalund's variances, G test of probability of reason, etc. Also Cavalli-Sforza's genetic distance was obtained. In the Andalusian Black and Grazalema Merino breeds, the Whalund's variances obtained were a result of selection, that has divided the breeds into distinct populations differentiated spatially. Medium heterozygosities of each breed do not differ much within themselves, but when each system is considered alone, discrepancies between ethnic groups are relevant. Wright's F indices demonstrated in the Andalusian White and Grazalema Merino breeds, genetic heterozygosities between populations or studied herds can be deduced, but this is not possible in the Andalusian Black. The F(IS) values indicated, despite the small size of the populations, that inbreeding has been avoided, probably because of the entry of foreign sires. In none of the breeds is there a significant excess of heterozygosis. The genetic distances between flocks within breeds do not differ from those found between breeds. RÉSUMÉ: On a travallé avec, differents troupeau des races de montons de l'Andalusie, Grazalema Merino et Lebrija Churro, et avec les races caprines Andalusian White et Andalusian Black, choisie entre les races Andaluciennes comme prioritaires pour la conservation, dans un etudie avant (Rodero et col. 1992a). Les sistémes utilicés dans cette travaille correspondent á charactérés etnozootechniques et

  3. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

    Science.gov (United States)

    Rostomyan, Liliya; Daly, Adrian F; Petrossians, Patrick; Nachev, Emil; Lila, Anurag R; Lecoq, Anne-Lise; Lecumberri, Beatriz; Trivellin, Giampaolo; Salvatori, Roberto; Moraitis, Andreas G; Holdaway, Ian; Kranenburg-van Klaveren, Dianne J; Chiara Zatelli, Maria; Palacios, Nuria; Nozieres, Cecile; Zacharin, Margaret; Ebeling, Tapani; Ojaniemi, Marja; Rozhinskaya, Liudmila; Verrua, Elisa; Jaffrain-Rea, Marie-Lise; Filipponi, Silvia; Gusakova, Daria; Pronin, Vyacheslav; Bertherat, Jerome; Belaya, Zhanna; Ilovayskaya, Irena; Sahnoun-Fathallah, Mona; Sievers, Caroline; Stalla, Gunter K; Castermans, Emilie; Caberg, Jean-Hubert; Sorkina, Ekaterina; Auriemma, Renata Simona; Mittal, Sachin; Kareva, Maria; Lysy, Philippe A; Emy, Philippe; De Menis, Ernesto; Choong, Catherine S; Mantovani, Giovanna; Bours, Vincent; De Herder, Wouter; Brue, Thierry; Barlier, Anne; Neggers, Sebastian J C M M; Zacharieva, Sabina; Chanson, Philippe; Shah, Nalini Samir; Stratakis, Constantine A; Naves, Luciana A; Beckers, Albert

    2015-10-01

    Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and a current/previous abnormal growth velocity for age or final height >2 s.d. above country normal means. The median onset of rapid growth was 13 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs 21.5 years respectively). Adenomas were ≥10 mm (i.e., macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF1 control was achieved in 39% during long-term follow-up. Final height was greater in younger onset patients, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 - X-linked acrogigantism (X-LAG) - occurred in two familial isolated pituitary adenoma kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically negative patient groups. AIP-mutated and X-LAG patients were significantly younger at onset and diagnosis, but disease control was worse in genetically negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases.

  4. 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 st...

  5. Schizophrenia: a study on genetic aspects of a brain disease

    NARCIS (Netherlands)

    Hoogendoorn, M.L.C.

    2007-01-01

    Schizophrenia is a severe and chronic psychiatric disorder with heritability estimates of 80-85%. Knowledge of the genetic factors that contribute to the risk to develop schizophrenia may provide insight into the etiology of the disorder, and, more important, may lead to new ways for treatment and p

  6. Obesity, hypertension and genetic variation in the TIGER Study

    Science.gov (United States)

    Obesity and hypertension are multifactoral conditions in which the onset and severity of the conditions are influenced by the interplay of genetic and environmental factors. We hypothesize that multiple genes and environmental factors account for a significant amount of variation in BMI and blood pr...

  7. Studying the genetics of Hirschsprung's disease : unraveling an oligogenic disorder

    NARCIS (Netherlands)

    Brooks, AS; Oostra, BA; Hofstra, RMW

    2005-01-01

    Hirschsprung's disease is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Genetic dissection was successful as nine genes and four loci for Hirschsprung's disease susceptibility were identified. Different approaches were used to

  8. Genetic Studies of Stuttering in a Founder Population

    Science.gov (United States)

    Wittke-Thompson, Jacqueline K.; Ambrose, Nicoline; Yairi, Ehud; Roe, Cheryl; Cook, Edwin H.; Ober, Carole; Cox, Nancy J.

    2007-01-01

    Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions…

  9. Study on Morph-genetic Materials Derived from Natural Materials

    Directory of Open Access Journals (Sweden)

    Di Zhang

    2011-12-01

    Full Text Available The way to fabricate novel morph-genetic functional materials based on nature bio-structures is reviewed. We present the idea and methods of obtaining multi-scale porous materials by using wood, agricultural wastes and butterfly wing scales as bio-templates.

  10. A genetic-epidemiologic study of Alzheimer’s disease

    NARCIS (Netherlands)

    A. Arias-Vásquez (Alejandro)

    2006-01-01

    textabstractAlzheimer's disease (AD) is the most frequent cause of dementia and thus is a major public-health problem. Age and genetic predisposition to the disease are the most important risk factors. In 2001 more than 24 million people in the western world had dementia. This number is expected to

  11. Cost-effectiveness of genetic studies in inherited heart diseases

    Directory of Open Access Journals (Sweden)

    María Sabater-Molina

    2013-05-01

    Full Text Available There is a need to evidence the cost of genetic testing and know their profitability in order to establish criteria for priorizing access to genetic testing for these diseases. We determinated the cost per positive genotyping in 234 index cases with diagnosis of hypertrophic cardiomyopathy (HCM, arrhythmogenic right ventricular cardiomyopathy (ARVC, long-QT syndrome (LQTS, or Brugada syndrome (BS. The genetic tests of the most prevalent genes and the estimation of the costs of periodical screening in wildtype relatives (WT were calculated. A total of 738 individuals (517 HCM, 76 ARVC, 71 LQTS and 74 BS from 234 probands were genotyped. The savings made by not having to perform the clinical testing of WT relatives exceeded the cost of genotyping for HCM families € +220,710, ARVC families € +9405 and LQTS families € +8362. The balance in BS was negative (€ –25,112. Our data suggests that individuals with conclusive clinical diagnostic of HCM should have a priority to access genetic testing. A positive overall benefit was also demonstrated in ARVC and LQTS.

  12. Genetic diversity Study of Dioscoreas Using Morphological Traits ...

    African Journals Online (AJOL)

    Prof. Ogunji

    major yam species are tropical plants and do not grow well below 200 C. ... cayenesis - rotundata complex were collected in. West Africa and ... tropical forest with mean annual rainfall of. 1,200mm, mean ..... Genetic structure and diversity in ...

  13. Sleep bruxism - genetic factors and psychoactive substances : Studies in Finnish twins

    OpenAIRE

    Rintakoski, Katariina

    2014-01-01

    Background: Genetic and environmental factors have a varying influence on oral health-related problems. Although studies have been conducted, the contribution of genetic factors to sleep-related bruxism remains obscure. Bruxism causes several physical problems, including abnormal tooth wear, pain in the temporomandibular joint or jaw muscles, and headaches, as well as social problems. The detailed aetiology of bruxism is unknown. In addition to genetic factors, psychoactive substances are con...

  14. A time study of cancer genetic counselors using a genetic counselor-only patient care model versus a traditional combined genetic counselor plus medical geneticist care model.

    Science.gov (United States)

    Heald, Brandie; Gustafson, Shanna; Mester, Jessica; Arscott, Patricia; Lynch, Katherine; Moline, Jessica; Eng, Charis

    2013-09-01

    Analyses of time-based effort have determined that clinical genetic services are labor-intensive, although these data derive primarily from studying geneticists' efforts in the pediatric model. No studies have investigated the time and patient care activities of cancer genetic counselors (GCs) in traditional clinics with a medical geneticist (GC/MD) compared with genetic counselor-only (GCO) appointments. In this study, 6 GCs prospectively tracked time spent in patient care activities in both clinical settings. The authors found that overall, GCs' time spent per patient was lower for GCO versus GC/MD visits. No differences were seen in time spent on results disclosure, but differences were noted in case preparation, face-to-face, and follow-up times. Furthermore, no differences were seen in number of case preparation activities or topics covered during a session. These data suggest that GCO visits result in better use of GCs' time, without a trade-off in number of patient-related activities.

  15. Genetic influences on Chronic Obstructive Pulmonary Disease - a twin study.

    Science.gov (United States)

    Ingebrigtsen, Truls; Thomsen, Simon F; Vestbo, Jørgen; van der Sluis, Sophie; Kyvik, Kirsten O; Silverman, Edwin K; Svartengren, Magnus; Backer, Vibeke

    2010-12-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted. Hospital discharge diagnoses data on COPD were analysed in 22,422 Danish twin pairs, 20-71 years of age. The analyses were replicated in a population of 27,668 Swedish twin pairs, 45-108 years of age. A Cox-regression model was applied to the discordant time from the age at first hospital admission for COPD in the co-twin of an affected twin. Latent factor models were used to estimate genetic and environmental effects. The probandwise concordance rate for COPD was higher in monozygotic (MZ) than in dizygotic (DZ) twins, 0.19 vs. 0.07 (p = 0.08) in the Danish population, and 0.20 vs. 0.08 (p = 0.006) in the Swedish population. After adjusting for sex, smoking and age at first hospital admission the risk of developing COPD in the co-twin of an affected twin was higher in MZ than in DZ twins, with hazards ratio 4.3 (95% confidence interval 1.2-15.8, p = 0.03) in Danish twins and 3.4 (1.5-7.7, p = 0.004) in Swedish twins. According to the most parsimonious model, additive genetic factors explained 63% (46-77%) of the individual COPD-susceptibility in the Danish population and 61% (48-72%) in the Swedish population. The susceptibility to develop severe COPD, as defined by hospitalizations, is strongly influenced by genetic factors. Approximately 60% of the individual susceptibility can be explained by genetic factors. Copyright © 2010 Elsevier Ltd. All rights reserved.

  16. Genetic Association Analysis under Complex Survey Sampling: The Hispanic Community Health Study/Study of Latinos

    Science.gov (United States)

    Lin, Dan-Yu; Tao, Ran; Kalsbeek, William D.; Zeng, Donglin; Gonzalez, Franklyn; Fernández-Rhodes, Lindsay; Graff, Mariaelisa; Koch, Gary G.; North, Kari E.; Heiss, Gerardo

    2014-01-01

    The cohort design allows investigators to explore the genetic basis of a variety of diseases and traits in a single study while avoiding major weaknesses of the case-control design. Most cohort studies employ multistage cluster sampling with unequal probabilities to conveniently select participants with desired characteristics, and participants from different clusters might be genetically related. Analysis that ignores the complex sampling design can yield biased estimation of the genetic association and inflation of the type I error. Herein, we develop weighted estimators that reflect unequal selection probabilities and differential nonresponse rates, and we derive variance estimators that properly account for the sampling design and the potential relatedness of participants in different sampling units. We compare, both analytically and numerically, the performance of the proposed weighted estimators with unweighted estimators that disregard the sampling design. We demonstrate the usefulness of the proposed methods through analysis of MetaboChip data in the Hispanic Community Health Study/Study of Latinos, which is the largest health study of the Hispanic/Latino population in the United States aimed at identifying risk factors for various diseases and determining the role of genes and environment in the occurrence of diseases. We provide guidelines on the use of weighted and unweighted estimators, as well as the relevant software. PMID:25480034

  17. Optimization of pulsed current GTAW process parameters for sintered hot forged AISI 4135 P/M steel welds by simulated annealing and genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Joseph, Joby; Muthukumaran, S. [National Institute of Technology, Tamil Nadu (India)

    2016-01-15

    Abundant improvements have occurred in materials handling, especially in metal joining. Pulsed current gas tungsten arc welding (PCGTAW) is one of the consequential fusion techniques. In this work, PCGTAW of AISI 4135 steel engendered through powder metallurgy (P/M) has been executed, and the process parameters have been highlighted applying Taguchi's L9 orthogonal array. The results show that the peak current (Ip), gas flow rate (GFR), welding speed (WS) and base current (Ib) are the critical constraints in strong determinant of the Tensile strength (TS) as well as percentage of elongation (% Elong) of the joint. The practical impact of applying Genetic algorithm (GA) and Simulated annealing (SA) to PCGTAW process has been authenticated by means of calculating the deviation between predicted and experimental welding process parameters.

  18. A study of the current collecting sectors of a U-25B diagonal megnetohydrodynamic generator

    Energy Technology Data Exchange (ETDEWEB)

    Kirillov, V.V.; Panovka, M.Ya.; Semenov, V.D.; Sokolov, Yu.N.

    1983-01-01

    The results are cited of an experimental study and a calculated analysis of the operation of current collecting sectors of the U-25B magnetohydrodynamic (MHD) generator. The effect was studied of the parameters of the current, the coefficient of electrical loading, the disposition of the current collecting sectors (T) relative to the diagram of the magnetic field on the distribution of current along the length of the current collecting sectors. It is established that with optimal disposition of the current collecting sectors a uniform distribution of current is achieved. A simplified calculation model of the current collecting sector is developed. It is shown that the experimental and calculated relationships match well. The effect of the ballast resisters installed in the current collecting circuits on the distribution of current is examined. Their positive role in preventing current overloads on the frames and in supporting the uniform distribution of current is noted.

  19. The apt/6-Methylpurine Counterselection System and Its Applications in Genetic Studies of the Hyperthermophilic Archaeon Sulfolobus islandicus

    Science.gov (United States)

    Bi, Hongkai; Whitaker, Rachel J.

    2016-01-01

    ABSTRACT Sulfolobus islandicus serves as a model for studying archaeal biology as well as linking novel biology to evolutionary ecology using functional population genomics. In the present study, we developed a new counterselectable genetic marker in S. islandicus to expand the genetic toolbox for this species. We show that resistance to the purine analog 6-methylpurine (6-MP) in S. islandicus M.16.4 is due to the inactivation of a putative adenine phosphoribosyltransferase encoded by M164_0158 (apt). The application of the apt gene as a novel counterselectable marker was first illustrated by constructing an unmarked α-amylase deletion mutant. Furthermore, the 6-MP counterselection feature was employed in a forward (loss-of-function) mutation assay to reveal the profile of spontaneous mutations in S. islandicus M.16.4 at the apt locus. Moreover, the general conservation of apt genes in the crenarchaea suggests that the same strategy can be broadly applied to other crenarchaeal model organisms. These results demonstrate that the apt locus represents a new tool for genetic manipulation and sequence analysis of the hyperthermophilic crenarchaeon S. islandicus. IMPORTANCE Currently, the pyrEF/5-fluoroorotic acid (5-FOA) counterselection system remains the sole counterselection marker in crenarchaeal genetics. Since most Sulfolobus mutants constructed by the research community were derived from genetic hosts lacking the pyrEF genes, the pyrEF/5-FOA system is no longer available for use in forward mutation assays. Demonstration of the apt/6-MP counterselection system for the Sulfolobus model renders it possible to again study the mutation profiles in mutants that have already been constructed by the use of strains with a pyrEF-deficient background. Furthermore, additional counterselectable markers will allow us to conduct more sophisticated genetic studies, i.e., investigate mechanisms of chromosomal DNA transfer and quantify recombination frequencies among S

  20. The Study of the Geomagnetic Variation for Sq current System

    Science.gov (United States)

    Zhao, X.; Du, A.

    2012-04-01

    The solar quiet variation (Sq) with a period of 24 hrs is a typical one of the quiet variations. Sq is generally caused by atmospheric tide-dynamo in ionosphere and it is controlled by the electric field, electric conductivity in ionosphere and neutral wind in middle-high altitude atmosphere. In our work, the geomagnetic field data observed by 90 ground-based observatories is used to analyze the local time variation of Sq. Sq is derived from five quiet-day geomagnetic data in every month by the FFT method. According to the pattern of geomagnetic X component in Sq, there is a prenoon-postnoon (before noon and after noon) asymmetry. This asymmetry is obvious in spring, summer and winter. The X component at 12:00-13:00 LT is about 5 nT larger than it at 11:00-12:00 LT. The ratio between the X component of daily variable amplitude and Y component of daily variable amplitude in middle and low (high) latitude regions in summer is greater (smaller) than that in winter. Used the sphere harmonic analysis method, the Sq equivalent current system is obtained. From the pattern of Sq current system, the prenoon-postnoon asymmetry may be caused by the electric field in the high latitude region. This electric field has two effects: the one is that the electric field from high latitude maps to the low latitude region; the other is this electric field penetrate to the middle latitude region directly. The combined action of these two effects makes the prenoon-postnoon asymmetry of Sq. The asymmetry also has an obvious seasonal effect. It may relate to the polar Sq and DP2 in the high latitude region.

  1. The current status of orbital experiments for UHECR studies

    Science.gov (United States)

    Panasyuk, M. I.; Casolino, M.; Garipov, G. K.; Ebisuzaki, T.; Gorodetzky, P.; Khrenov, B. A.; Klimov, P. A.; Morozenko, V. S.; Sakaki, N.; Saprykin, O. A.; Sharakin, S. A.; Takizawa, Y.; Tkachev, L. G.; Yashin, I. V.; Zotov, M. Yu

    2015-08-01

    Two types of orbital detectors of extreme energy cosmic rays are being developed nowadays: (i) TUS and KLYPVE with reflecting optical systems (mirrors) and (ii) JEM-EUSO with high- transmittance Fresnel lenses. They will cover much larger areas than existing ground-based arrays and almost uniformly monitor the celestial sphere. The TUS detector is the pioneering mission developed in SINP MSU in cooperation with several Russian and foreign institutions. It has relatively small field of view (±4.5°), which corresponds to a ground area of 6.4 • 103 km2. The telescope consists of a Fresnel-type mirror-concentrator (∼ 2 m2) and a photo receiver (a matrix of 16 x 16 photomultiplier tubes). It is to be deployed on the Lomonosov satellite, and is currently at the final stage of preflight tests. Recently, SINP MSU began the KLYPVE project to be installed on board of the Russian segment of the ISS. The optical system of this detector contains a larger primary mirror (10 m2), which allows decreasing the energy threshold. The total effective field of view will be at least ±14° to exceed the annual exposure of the existing ground-based experiments. Several configurations of the detector are being currently considered. Finally, JEM-EUSO is a wide field of view (±30°) detector. The optics is composed of two curved double-sided Fresnel lenses with 2.65 m external diameter, a precision diffractive middle lens and a pupil. The ultraviolet photons are focused onto the focal surface, which consists of nearly 5000 multi-anode photomultipliers. It is developed by a large international collaboration. All three orbital detectors have multi-purpose character due to continuous monitoring of various atmospheric phenomena. The present status of development of the TUS and KLYPVE missions is reported, and a brief comparison of the projects with JEM-EUSO is given.

  2. Comparative study between an alternating current (AC) and a direct current (DC) electrification of an urban railway

    OpenAIRE

    Garriga Turu, Jordi

    2015-01-01

    This study will evaluate technically, energetic and economically the traction electrification network of the line Barcelona – Vallès operated by Ferrocarrils de la Generalitat de Catalunya (FGC) in the existing voltage system (1500 Vdc) and a new electrification under alternative current (25 kVac) will be proposed to be as well studied. The results obtained will be compared in order to obtain decision factors on which system best fits.

  3. Case studies on genetically modified organisms (GMOs): Potential risk scenarios and associated health indicators.

    Science.gov (United States)

    De Santis, Barbara; Stockhofe, Norbert; Wal, Jean-Michel; Weesendorp, Eefke; Lallès, Jean-Paul; van Dijk, Jeroen; Kok, Esther; De Giacomo, Marzia; Einspanier, Ralf; Onori, Roberta; Brera, Carlo; Bikker, Paul; van der Meulen, Jan; Gijs, Kleter

    2017-08-30

    Within the frame of the EU-funded MARLON project, background data were reviewed to explore the possibility of measuring health indicators during post-market monitoring for potential effects of feeds, particularly genetically modified (GM) feeds, on livestock animal health, if applicable. Four case studies (CSs) of potential health effects on livestock were framed and the current knowledge of a possible effect of GM feed was reviewed. Concerning allergenicity (CS-1), there are no case-reports of allergic reactions or immunotoxic effects resulting from GM feed consumption as compared with non-GM feed. The likelihood of horizontal gene transfer (HGT; CS-2) of GMO-related DNA to different species is not different from that for other DNA and is unlikely to raise health concerns. Concerning mycotoxins (CS-3), insect-resistant GM maize may reduce fumonisins contamination as a health benefit, yet other Fusarium toxins and aflatoxins show inconclusive results. For nutritionally altered crops (CS-4), the genetic modifications applied lead to compositional changes which require special considerations of their nutritional impacts. No health indicators were thus identified except for possible beneficial impacts of reduced mycotoxins and nutritional enhancement. More generally, veterinary health data should ideally be linked with animal exposure information so as to be able to establish cause-effect relationships. Copyright © 2017. Published by Elsevier Ltd.

  4. Parkinson's disease and genetics.

    Science.gov (United States)

    Lester, Jacobo; Otero-Siliceo, Enrique

    2006-09-01

    Idiopathic Parkinson disease (IPD) is a condition of unknown cause. Several factors are believed to contribute to its onset, and many studies have been conducted in search of the possible etiology of Parkinson disease. Genetic factors have become relevant when trying to explain the onset of Parkinson disease. The studies are divided into 2 categories: epidemiological and studies that analyze twins from families with members suffering from Parkinson disease, thus looking for the responsible genetic mutations. In this article we address this controversial topic, reviewing some of the most significant studies trying to provide evidence which relates genetics to Parkinson disease. We present current epidemiological studies and the most important genetic factors related to Parkinson disease, including the latest information currently available on each issue.

  5. Genetical study of mutation in maternal-fetal ABO incompatibility.

    Science.gov (United States)

    Yu, Zhong-qing; Hu, Feng-lan; Cheng, Qiong; Hao, Jian-hua; Zhang, Jian-hua; Lin, Xue-na; Zheng, Bao; Fa, Ping-ping; Yu, Su-yan; Hu, Li-hua

    2015-04-01

    This study looked into a family involving a rare mother-child ABO blood type inconsistency and explored its genetic and molecular basis. In the family, the mother had type AB blood and the father was blood type B and they gave birth to a baby of blood type O. Their blood types were phenotypically identified by using different techniques, including micro-column gel test, immune inhibition test, absorption and elution tests. The sequences of all 7 exons of ABO allele from the core family members were determined by using PCR and clone-based sequencing. The loci of mutated gene were compared against normal human genes. The result showed that the mother's erythrocytes were agglutinable with monoclonal anti-A antibody (2+) and had agglutination reaction with anti-B antibody (4+). The mother's serum registered agglutination action with standard blood type A cells. The findings showed an ABO inconsistency. When domestic antibodies were used, the mother's erythrocytes yielded agglutination reaction with humanized anti-B serum (4+) and anti-B monoclonal antibody but were non-agglutinable with humanized anti-A serum and anti-A monoclonal antibody. Upon absorption and elution, the titer of anit-A antibody was 128 both before and after the absorption test, with no significant difference found between pre- and post-absorption values. Our results confirmed that the mother's allelic gene was type B and contained type A. The father's blood type was type B, and son's blood type was type O. Clone-based sequencing revealed that the mother carried a heterozygous gene of B101.01 (ntA640→G)/O01, which contained an M214→V mutation that could express a weak expression of antigen A, resulting in blood type AB. However, their son did not have the M214→V mutation, which yielded a false ABO-inconsistency between him and his mother. We were led to conclude that type B gene with a M214→V mutation can encode both antigen B and weak antigen B that can lead to false ABO-inconsistencies.

  6. Prioritization of future genetics education for general practitioners: a Delphi study

    Science.gov (United States)

    Houwink, Elisa J.F.; Henneman, Lidewij; Westerneng, Myrte; van Luijk, Scheltus J.; Cornel, Martina C.; Dinant, Jan Geert; Vleuten, Cees van der

    2012-01-01

    Purpose: General practitioners (GPs) are increasingly expected to deliver genetics services in daily patient care. Education in primary care genetics is considered suboptimal and in urgent need of revision and innovation. The aim of this study was to prioritize topics for genetics education for general practice. Methods: A Delphi consensus procedure consisting of three rounds was conducted. A purposively selected heterogeneous panel (n = 18) of experts, comprising six practicing GPs who were also engaged in research, five GP trainers, four clinical genetics professionals, and three representatives of patient organizations, participated. Educational needs regarding genetics in general practice in terms of knowledge, skills, and attitudes were rated and ranked in a top-10 list. Results: The entire panel completed all three rounds. Kendall's coefficient of concordance indicated significant agreement regarding the top 10 genetic education needs (P < 0.001). “Recognizing signals that are potentially indicative of a hereditary component of a disease” was rated highest, followed by “Evaluating indications for referral to a clinical genetics centre” and “Knowledge of the possibilities and limitations of genetic tests.” Conclusions: The priorities resulting from this study can inform the development of educational modules, including input for case-based education, to improve GP performance in genetic patient care. PMID:22241093

  7. Current Situation of Antimicrobial Resistance and Genetic Differences in Stenotrophomonas maltophilia Complex Isolates by Multilocus Variable Number of Tandem Repeat Analysis

    Science.gov (United States)

    Song, Jae-Hoon

    2016-01-01

    Background Stenotrophomonas maltophilia is one of several opportunistic pathogens of growing significance. Several studies on the molecular epidemiology of S. maltophilia have shown clinical isolates to be genetically diverse. Materials and Methods A total of 121 clinical isolates tentatively identified as S. malophilia from seven tertiary-care hospitals in Korea from 2007 to 2011 were included. Species and groups were identified using partial gyrB gene sequences and antimicrobial susceptibility testing was performed using a broth microdilution method. Multi locus variable number of tandem repeat analysis (MLVA) surveys are used for subtyping. Results Based on partial gyrB gene sequences, 118 isolates were identified as belonging to the S. maltophilia complex. For all S. maltophilia isolates, the resistance rates to trimethoprime-sulfamethoxazole (TMP/SMX) and levofloxacin were the highest (both, 30.5%). Resistance rate to ceftazidime was 28.0%. 11.0% and 11.9% of 118 S. maltophilia isolates displayed resistance to piperacillin/tazobactam and tigecycline, respectively. Clade 1 and Clade 2 were definitely distinguished from the data of MLVA with amplification of loci. All 118 isolates were classified into several clusters as its identification. Conclusion Because of high resistance rates to TMP/SMX and levofloxacin, the clinical laboratory department should consider providing the data about other antimicrobial agents and treatment of S. maltophilia infections with a combination of antimicrobials can be considered in the current practice. The MLVA evaluated in this study provides a fast, portable, relatively low cost genotyping method that can be employed in genotypic linkage or transmission networks comparing to analysis of the gyrB gene. PMID:28032486

  8. A Genetic Study on Attention Problems and Academic Skills: Results of a Longitudinal Study in Twins

    OpenAIRE

    Polderman TJ; Huizink AC; Verhulst FC; van Beijsterveldt CE; Boomsma DI; Bartels M

    2011-01-01

    Objective Several studies reported a negative association between ADHD symptoms and academic achievement. We investigated the etiology of the association between Attention Problems (AP, one of the core symptoms in ADHD) in early childhood and four academic skills across childhood in a genetically informative design. Method Academic skills (mathematics, spelling, reading and comprehension) were measured with standardized tests performed at school in grade 2, 4, and 6. AP were measured with mot...

  9. Genetic Influences on Adolescent Eating Habits

    Science.gov (United States)

    Beaver, Kevin M.; Flores, Tori; Boutwell, Brian B.; Gibson, Chris L.

    2012-01-01

    Behavioral genetic research shows that variation in eating habits and food consumption is due to genetic and environmental factors. The current study extends this line of research by examining the genetic contribution to adolescent eating habits. Analysis of sibling pairs drawn from the National Longitudinal Study of Adolescent Health (Add Health)…

  10. Genetic Study on Jade as the Origin of Chinese Civilization

    Directory of Open Access Journals (Sweden)

    Juan Wu

    2016-05-01

    Full Text Available This paper, based on the recent scholarship by Chinese mythologists’ on jade ideology, introduces the theoretical and methodological innovation of Chinese mythology, explores the genetic mechanism of Jade-as-God model, exams the integrated function of jade in the material and spiritual resource possession and distribution, analyzes its relation with the Chinese cultural origin and demonstrates the necessity and capacity of inter-disciplinary interpretation.

  11. Current studies of biomarkers for the early diagnosis of rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Chandrashekara S

    2014-09-01

    Full Text Available S Chandrashekara ChanRe Rheumatology and Immunology Center and Research, Basaveshwaranagar, Bangalore, India Abstract: Early treatment of rheumatoid arthritis (RA with disease-modifying antirheumatic drugs will improve the outcome significantly. Early diagnosis of RA continues to be a challenge. The disease needs to be distinguished from other self-limiting arthritis and connective tissue disease. Currently available autoantibodies like rheumatoid factors and anticitrullinated cyclic peptide have limited sensitivity and specificity. RA, being a heterogeneous disease, with no unique or distinct defect that has been described, is less likely to have a single pathognomonic marker. There are defined predisposing genetic factors, cell characteristics, cytokine changes, autoantibodies, and products of disease process that have been demonstrated to distinguish rheumatoid from normal and other arthritis. Studies have demonstrated that combinations of factors allow for more specific RA diagnosis; however, when considerations are given to the factors separately, sensitivity increases at the cost of specificity. The present review briefly describes the value of some of the candidate factors and their combinations as diagnostic markers of early RA. Well-designed multicenter studies to evaluate these combinations using a scoring system are recommended for the development of precise and widely applicable biomarkers for early diagnosis of RA. Keywords: autoantibodies, combination, early RA, specificity

  12. Clusters of Concepts in Molecular Genetics: A Study of Swedish Upper Secondary Science Students' Understanding

    Science.gov (United States)

    Gericke, Niklas; Wahlberg, Sara

    2013-01-01

    To understand genetics, students need to be able to explain and draw connections between a large number of concepts. The purpose of the study reported herein was to explore the way upper secondary science students reason about concepts in molecular genetics in order to understand protein synthesis. Data were collected by group interviews. Concept…

  13. Genetic analysis of tolerance to infections using random regressions: a simulation study

    NARCIS (Netherlands)

    Kause, A.

    2011-01-01

    Tolerance to infections is the ability of a host to limit the impact of a given pathogen burden on host performance. This simulation study demonstrated the merit of using random regressions to estimate unbiased genetic variances for tolerance slope and its genetic correlations with other traits,

  14. Study for Trend of genetic Resource on Wild Yak in China

    Institute of Scientific and Technical Information of China (English)

    Bohui Yang; Ping Yan; Chunnian Liang; Xia Lang; Xiaoping Sun; Jian Guo; Xian Guo; Shengli Cheng

    2005-01-01

    In this paper, comprehensively studied inhabit environments, population size, population density and distribution regions on wild yak, the results showed that genetic resource of wild yak has been decreased from 1950' to 1980 ', after that, and its genetic resource began to show increasing trend in nature reserves due to protection measures strengthened.

  15. Exposing College Students to Exercise: The Training Interventions and Genetics of Exercise Response (TIGER) Study

    Science.gov (United States)

    Sailors, Mary H.; Jackson, Andrew S.; McFarlin, Brian K.; Turpin, Ian; Ellis, Kenneth J.; Foreyt, John P.; Hoelscher, Deanna M.; Bray, Molly S.

    2010-01-01

    Objective: The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. Participants: A multiracial/ethnic cohort (N = 1,567; 39% male), age 18 to 35 years,…

  16. Examining Genetic and Environmental Effects on Social Aggression: A Study of 6-Year-Old Twins

    Science.gov (United States)

    Brendgen, Mara; Dionne, Ginette; Girard, Alain; Boivin, Michel; Vitaro, Frank; Prusse, Daniel

    2005-01-01

    Using a genetic design of 234 six-year-old twins, this study examined (a) the contribution of genes and environment to social versus physical aggression, and (b) whether the correlation between social and physical aggression can be explained by similar genetic or environmental factors or by a directional link between the phenotypes. For social…

  17. Clusters of Concepts in Molecular Genetics: A Study of Swedish Upper Secondary Science Students' Understanding

    Science.gov (United States)

    Gericke, Niklas; Wahlberg, Sara

    2013-01-01

    To understand genetics, students need to be able to explain and draw connections between a large number of concepts. The purpose of the study reported herein was to explore the way upper secondary science students reason about concepts in molecular genetics in order to understand protein synthesis. Data were collected by group interviews. Concept…

  18. Exposing college students to exercise: the training interventions and genetics of exercise response (TIGER) study

    Science.gov (United States)

    The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. A multiracial/ethnic cohort (N = 1,567; 39% male), age ...

  19. Progress in the Study of Molecular Genetic Improvements of Poplar in China

    Institute of Scientific and Technical Information of China (English)

    Shan-Zhi Lin; Zhi-Yi Zhang; Qian Zhang; Yuan-Zhen Lin

    2006-01-01

    The poplar is one of the most economically important and intensively studied tree species owing to its wide application in the timber industry and as a model material for the study of woody plants. The natural resource of poplars in China is replete. Over the past 10 years, the application of molecular biological techniques to genetic improvements in poplar species has been widely studied in China. Recent advances in molecular genetic improvements of poplar, including cDNA library construction, gene cloning and identification, genetic engineering, gene expression, genetic linkage map construction, mapping of quantitative trait loci (QTL) and molecular-assisted selection, are reviewed in the present paper. In addition, the application of modern biotechnology to molecular improvements in the genetic traits of the poplar and some unsolved problems are discussed.

  20. The current status of orbital experiments for UHECR studies

    CERN Document Server

    Panasyuk, M I; Garipov, G K; Ebisuzaki, T; Gorodetzky, P; Khrenov, B A; Klimov, P A; Morozenko, V S; Sakaki, N; Saprykin, O A; Sharakin, S A; Takizawa, Y; Tkachev, L G; Yashin, I V; Zotov, M Yu

    2015-01-01

    Two types of orbital detectors of extreme energy cosmic rays are being developed nowadays: (i) TUS and KLYPVE with reflecting optical systems (mirrors) and (ii) JEM-EUSO with high-transmittance Fresnel lenses. They will cover much larger areas than existing ground-based arrays and almost uniformly monitor the celestial sphere. The TUS detector is the pioneering mission developed in SINP MSU in cooperation with several Russian and foreign institutions. It has relatively small field of view (+/-4.5 deg), which corresponds to a ground area of 6.4x10^3 sq.km. The telescope consists of a Fresnel-type mirror-concentrator (~2 sq.m) and a photo receiver (a matrix of 16x16 photomultiplier tubes). It is to be deployed on the Lomonosov satellite, and is currently at the final stage of preflight tests. Recently, SINP MSU began the KLYPVE project to be installed on board of the Russian segment of the ISS. The optical system of this detector contains a larger primary mirror (10 sq.m), which allows decreasing the energy thr...