WorldWideScience

Sample records for assisted blup genetic

  1. Comparison of collinearity mitigation techniques used in predicting BLUP breeding values and genetic gains over generations

    CSIR Research Space (South Africa)

    Eatwell, KA

    2011-01-01

    Full Text Available techniques and of two computational numerical precisions on the genetic gains in breeding populations. Multiple-trait, multiple-trial BLUP selection scenarios were run on Eucalyptus grandis (F1, F2 and F3) and Pinus patula (F1 and F2) data, comparing...

  2. RESEARCH ON THE MULTITRAIT ASSESSMENT OF THE GENETIC MERIT FOR MILK AND MEAT PRODUCTION IN THE ROMANIAN FRIESIAN USING A BLUP SIMPLIFIED MODEL

    Directory of Open Access Journals (Sweden)

    Agatha POPESCU

    2014-10-01

    Full Text Available The paper objective was to assess the genetic merit for milk and meat production using a sample of 16 Romanian Friesian bulls and a BLUP simplified model as well as the contemporary comparison method. The bulls' 730 daughters (half-sisters registered during the 305 days first lactation 3,034.89 kg milk with 22.86 % variation coefficient, 3.79 % fat with 6.06 % variation and 115.72 kg fat with 23.49 % variation. The 249 sons (half-brothers recorded 138.05 kg atthe age of 6 months with 19.31 % variation coefficient, 293.41kg at the age of 12 months with 4.33 % variation, and 881.97 g/day daily gain with 3.14% variation. The heritability was 0.505 for milk yield, 0.741 for fat %, 0.567 for milk fat, 0.524 for the weight at 6 months, 0.642 for the weight at 12 months and 0.372 for daily gain. The genotypic correlations have been -0.245 between milk yield and fat % and 0.465 between milk and fat yield, -0.287 between the weight at 6 months and 12 months and 0.850 between the weight at 12 months and daily gain. Breeding value varied from 637.6 and -68.1 for milk yield and between 26.26 and -2.07 for milk fat. The breeding value precision ranged between 92 and 58 in case of milk traits. Breeding value varied between 48.6 and - 27.8 for the weight at 12 months and between 168.2 and 2.2. for daily gain. The accuracy of the breeding value for meat traits ranged between 76 and 60. Rank correlations between bull ranking for milk traits were 0.377** between milk fat and fat %, 0.974** between milk yield and fat yield. Rank correlations between bull ranking for meat traits were 0.766** between the weight at 6 months and at 12 months and 0.847** between the weight at 12 months and daily gain. The rank correlation between bull hierarchy by BLUP and contemporary comparison was 0.563 significantly for P=0.05 and P=0.01. As a conclusion, the high accuracy of BLUP model recommends it to be used for breeding value assessment. The position occupied by bulls in their

  3. Genetic evaluation with major genes and polygenic inheritance when some animals are not genotyped using gene content multiple-trait BLUP.

    Science.gov (United States)

    Legarra, Andrés; Vitezica, Zulma G

    2015-11-17

    In pedigreed populations with a major gene segregating for a quantitative trait, it is not clear how to use pedigree, genotype and phenotype information when some individuals are not genotyped. We propose to consider gene content at the major gene as a second trait correlated to the quantitative trait, in a gene content multiple-trait best linear unbiased prediction (GCMTBLUP) method. The genetic covariance between the trait and gene content at the major gene is a function of the substitution effect of the gene. This genetic covariance can be written in a multiple-trait form that accommodates any pattern of missing values for either genotype or phenotype data. Effects of major gene alleles and the genetic covariance between genotype at the major gene and the phenotype can be estimated using standard EM-REML or Gibbs sampling. Prediction of breeding values with genotypes at the major gene can use multiple-trait BLUP software. Major genes with more than two alleles can be considered by including negative covariances between gene contents at each different allele. We simulated two scenarios: a selected and an unselected trait with heritabilities of 0.05 and 0.5, respectively. In both cases, the major gene explained half the genetic variation. Competing methods used imputed gene contents derived by the method of Gengler et al. or by iterative peeling. Imputed gene contents, in contrast to GCMTBLUP, do not consider information on the quantitative trait for genotype prediction. GCMTBLUP gave unbiased estimates of the gene effect, in contrast to the other methods, with less bias and better or equal accuracy of prediction. GCMTBLUP improved estimation of genotypes in non-genotyped individuals, in particular if these individuals had own phenotype records and the trait had a high heritability. Ignoring the major gene in genetic evaluation led to serious biases and decreased prediction accuracy. CGMTBLUP is the best linear predictor of additive genetic merit including

  4. Ridge Regression and Other Kernels for Genomic Selection with R Package rrBLUP

    Directory of Open Access Journals (Sweden)

    Jeffrey B. Endelman

    2011-11-01

    Full Text Available Many important traits in plant breeding are polygenic and therefore recalcitrant to traditional marker-assisted selection. Genomic selection addresses this complexity by including all markers in the prediction model. A key method for the genomic prediction of breeding values is ridge regression (RR, which is equivalent to best linear unbiased prediction (BLUP when the genetic covariance between lines is proportional to their similarity in genotype space. This additive model can be broadened to include epistatic effects by using other kernels, such as the Gaussian, which represent inner products in a complex feature space. To facilitate the use of RR and nonadditive kernels in plant breeding, a new software package for R called rrBLUP has been developed. At its core is a fast maximum-likelihood algorithm for mixed models with a single variance component besides the residual error, which allows for efficient prediction with unreplicated training data. Use of the rrBLUP software is demonstrated through several examples, including the identification of optimal crosses based on superior progeny value. In cross-validation tests, the prediction accuracy with nonadditive kernels was significantly higher than RR for wheat ( L. grain yield but equivalent for several maize ( L. traits.

  5. Avaliação genética em erva-mate pelo procedimento BLUP individual multivariado sob interação genótipo x ambiente Genetic evaluation in Ilex paraguariensis by the multivariate individual BLUP procedure with genotype-environment interaction

    Directory of Open Access Journals (Sweden)

    Rosangela Maria Simeão

    2002-11-01

    Full Text Available Os objetivos deste trabalho foram estimar parâmetros genéticos e fenotípicos e realizar a predição de valores genéticos de matrizes e procedências de erva-mate (Ilex paraguariensis. Foram avaliadas 164 progênies de oito procedências, em três locais (Ivaí, PR, Guarapuava, PR e Rio Azul, PR, em relação ao caráter produção de massa foliar (PMF. Os componentes de variância, parâmetros genéticos e valores genéticos foram estimados pelo procedimento REML/BLUP individual (máxima verossimilhança restrita/melhor predição linear não viciada, realizando a análise multivariada para os três locais. Os coeficientes de herdabilidade individual, no sentido restrito, para o caráter PMF foram 0,15 em Ivaí, 0,62 em Guarapuava e 0,23 em Rio Azul. A baixa magnitude desses coeficientes em Ivaí e Rio Azul demanda a utilização de métodos de seleção que utilizem todos os efeitos aleatórios do modelo estatístico. O efeito de procedências foi significativo em Ivaí e Rio Azul, com correlação fenotípica intraclasse de 0,13 em Ivaí e de 0,09 em Rio Azul. As procedências apresentaram correlação genética de 0,95 entre os locais Ivaí e Rio Azul. Nesses locais, as procedências foram mais estáveis nos diferentes ambientes do que as progênies. Foram preditos os valores genéticos em relação a todas as procedências e matrizes em todos os locais quanto ao caráter avaliado. As melhores procedências são Barão de Cotegipe, Quedas do Iguaçu, Cascavel e Ivaí.The objectives of this paper were to estimate genetic and phenotypic parameters and to predict breeding values for parents and provenances of Ilex paraguariensis. Eight provenances with 164 progenies were evaluated on three sites (Ivaí, PR, Guarapuava, PR and Rio Azul, PR for the trait leaf weight (LW. All the variance components, parameters and breeding values were obtained by REML/BLUP (restricted maximum likelihood/best linear unbiased prediction procedure at the

  6. APLICAÇÃO DA METODOLOGIA DE MODELOS MISTOS (REML/BLUP NA ESTIMAÇÃO DE COMPONENTES DE VARIÂNCIA E PREDIÇÃO DE VALORES GENÉTICOS EM PUPUNHEIRA (Bactris gasipaes APLICATION OF THE MIXED MODEL METHODOLOGY (REML/BLUP IN VARIANCE COMPONENTS ESTIMATION AND PREDICTION OF GENETIC VALUES IN PEACH PALM (Bactris gasipaes

    Directory of Open Access Journals (Sweden)

    JOÃO TOMÉ DE FARIAS NETO

    2001-08-01

    ,70%, PRB (6,15%. Os ganhos genéticos preditos em relação à média da população para PP foram de 7,18% na situação de LP e 8,40% para CP, com tamanho efetivo de 30,38 e 19,00, respectivamente.The peach palm is a very useful plant for feeding Brazilians as fruit or palm heart producer. The interest for the peach palm besides being a perennial culture is: growth in full sun, precocity, rusticity, capacity to shoot, flavor and non-darkening of the palm heart after the cut. Estimates of genetic parameters in peach palm are scarce and constitute the most important tool to guide the improvement programs. The objective of this work was to study the genetic variability and estimate the individual genetic value as selection criterion, using the BLUP/REML procedure (Best linear unbiased prediction/restricted maximum likelihood. Two selection strategies for the palm heart production trait were adopted: a short term (CP - selection of the 9 families with 31 individuals of bigger genetic value and a long term (LP - selection of the 15 families with 53 individuals. The progenies were evaluated in randomized block design with three replications, the plots were composed by rows of five plants, spaced in 2.0 m x 1.0 m and with a row around the experiment in the Experimental Field of Matapi, Porto Grande municipality, Amapa State, Brazil. The evaluation was accomplished to the 26 months after planting (2nd evaluation being collected data of plant height (AP, diameter of the plant to the lap height (DPC, palm heart size (TP, palm heart diameter (DP, residual apical weight (PRA, basal weight (PRB and of the liquid palm heart (PP (exportation type. The data of AP, DPC, TP and DP corresponded to the clump of roots averages that presented more than a stem. However for the characters PA, PRB and PP corresponded the sum of the stems in the clump of roots. In general, the population presented low genetic variability. The narrow sense heritability at the individuals level was: AP (18.44%, DPC

  7. Explicit Modeling of Ancestry Improves Polygenic Risk Scores and BLUP Prediction.

    Science.gov (United States)

    Chen, Chia-Yen; Han, Jiali; Hunter, David J; Kraft, Peter; Price, Alkes L

    2015-09-01

    Polygenic prediction using genome-wide SNPs can provide high prediction accuracy for complex traits. Here, we investigate the question of how to account for genetic ancestry when conducting polygenic prediction. We show that the accuracy of polygenic prediction in structured populations may be partly due to genetic ancestry. However, we hypothesized that explicitly modeling ancestry could improve polygenic prediction accuracy. We analyzed three GWAS of hair color (HC), tanning ability (TA), and basal cell carcinoma (BCC) in European Americans (sample size from 7,440 to 9,822) and considered two widely used polygenic prediction approaches: polygenic risk scores (PRSs) and best linear unbiased prediction (BLUP). We compared polygenic prediction without correction for ancestry to polygenic prediction with ancestry as a separate component in the model. In 10-fold cross-validation using the PRS approach, the R(2) for HC increased by 66% (0.0456-0.0755; P ancestry, which prevents ancestry effects from entering into each SNP effect and being overweighted. Surprisingly, explicitly modeling ancestry produces a similar improvement when using the BLUP approach, which fits all SNPs simultaneously in a single variance component and causes ancestry to be underweighted. We validate our findings via simulations, which show that the differences in prediction accuracy will increase in magnitude as sample sizes increase. In summary, our results show that explicitly modeling ancestry can be important in both PRS and BLUP prediction. © 2015 WILEY PERIODICALS, INC.

  8. utilizando os procedimentos REML/BLUP e E(QM

    Directory of Open Access Journals (Sweden)

    Maria das Graças de Barros Rocha

    2006-01-01

    Full Text Available Five progeny tests with half-sibs Eucalyptus urophylla S. T. Blake were evaluated. Four 4 of them were from provenances Indonesia and one of them from Brazil. It was used the REML/ BLUP (restricted maximum likelihood / best linear unbiased prediction procedures and the minimum square method for the estimation of genetic values. The tests were established separately according to the origin, in a complete randomized block design, with five replications and row plots of six plants in 3.0 x 2.0 meter spacing in Guanhães, Minas Gerais State. When the plants were 58 months-old for the characteristics of diameter at breast height (DAP, the five evaluated tests showed standard species values, besides presenting significant genetic variability by the F test at 1% of probability. The coefficients of additive genetic variation presented greater values in the TP-71 test from Wetar and TP-68 from Alor, and presented similar values in other tests for the diameter at breast height (DAP characteristic. Selection gains were estimated at values of 12.8; 22.9; 9.5; 21.0 and 25.3%, and the effective population size (Ne at values of 60.2; 58.0; 131.8; 167.9 and 224.1 for the TP-67, TP-68, TP-69, TP-70 and TP-71 tests, respectively. A selection gain of 26.8 % was obtained in the clonal seed orchard with selection of 21 plants that were carriers of the greatest additive genetic values. In both procedures, the values of the genetic parameters were similar, except among families, in which the REML procedure em obtained higher values with accuracy higher than 70% in all populations, proving to be appropriate for this purpose.

  9. Influence of Maximum Inbreeding Avoidance under BLUP EBV Selection on Pinzgau Population Diversity

    Directory of Open Access Journals (Sweden)

    Radovan Kasarda

    2011-05-01

    Full Text Available Evaluated was effect of mating (random vs. maximum avoidance of inbreeding under BLUP EBV selection strategy. Existing population structure was under Monte Carlo stochastic simulation analyzed from the point to minimize increase of inbreeding. Maximum avoidance of inbreeding under BLUP selection resulted into comparable increase of inbreeding then random mating in average of 10 generation development. After 10 generations of simulation of mating strategy was observed ΔF= 6,51 % (2 sires, 5,20 % (3 sires, 3,22 % (4 sires resp. 2,94 % (5 sires. With increased number of sires selected, decrease of inbreeding was observed. With use of 4, resp. 5 sires increase of inbreeding was comparable to random mating with phenotypic selection. For saving of genetic diversity and prevention of population loss is important to minimize increase of inbreeding in small populations. Classical approach was based on balancing ratio of sires and dams in mating program. Contrariwise in the most of commercial populations small number of sires was used with high mating ratio.

  10. Selecting elephant grass families and progenies to produce bioenergy through mixed models (REML/BLUP).

    Science.gov (United States)

    Rodrigues, E V; Daher, R F; Dos Santos, A; Vivas, M; Machado, J C; Gravina, G do A; de Souza, Y P; Vidal, A K; Rocha, A Dos S; Freitas, R S

    2017-05-18

    Brazil has great potential to produce bioenergy since it is located in a tropical region that receives high incidence of solar energy and presents favorable climatic conditions for such purpose. However, the use of bioenergy in the country is below its productivity potential. The aim of the current study was to select full-sib progenies and families of elephant grass (Pennisetum purpureum S.) to optimize phenotypes relevant to bioenergy production through mixed models (REML/BLUP). The circulating diallel-based crossing of ten elephant grass genotypes was performed. An experimental design using the randomized block methodology, with three repetitions, was set to assess both the hybrids and the parents. Each plot comprised 14-m rows, 1.40 m spacing between rows, and 1.40 m spacing between plants. The number of tillers, plant height, culm diameter, fresh biomass production, dry biomass rate, and the dry biomass production were assessed. Genetic-statistical analyses were performed through mixed models (REML/BLUP). The genetic variance in the assessed families was explained through additive genetic effects and dominance genetic effects; the dominance variance was prevalent. Families such as Capim Cana D'África x Guaçu/I.Z.2, Cameroon x Cuba-115, CPAC x Cuba-115, Cameroon x Guaçu/I.Z.2, and IAC-Campinas x CPAC showed the highest dry biomass production. The family derived from the crossing between Cana D'África and Guaçu/I.Z.2 showed the largest number of potential individuals for traits such as plant height, culm diameter, fresh biomass production, dry biomass production, and dry biomass rate. The individual 5 in the family Cana D'África x Guaçu/I.Z.2, planted in blocks 1 and 2, showed the highest dry biomass production.

  11. Genetic and epigenetic risks of assisted reproduction.

    Science.gov (United States)

    Jiang, Ziru; Wang, Yinyu; Lin, Jing; Xu, Jingjing; Ding, Guolian; Huang, Hefeng

    2017-10-01

    Assisted reproductive technology (ART) is used primarily for infertility treatments to achieve pregnancy and involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. Moreover, preimplantation genetic diagnosis (PGD) of ART is used in couples for genetic reasons. In ART treatments, gametes and zygotes are exposed to a series of non-physiological processes and culture media. Although the majority of children born with this treatment are healthy, some concerns remain regarding the safety of this technology. Animal studies and follow-up studies of ART-borne children suggested that ART was associated with an increased incidence of genetic, physical, or developmental abnormalities, although there are also observations that contradict these findings. As IVF, ICSI, frozen-thawed embryo transfer, and PGD manipulate gametes and embryo at a time that is important for reprogramming, they may affect epigenetic stability, leading to gamete/embryo origins of adult diseases. In fact, ART offspring have been reported to have an increased risk of gamete/embryo origins of adult diseases, such as early-onset diabetes, cardiovascular disease, and so on. In this review, we will discuss evidence related to genetic, especially epigenetic, risks of assisted reproduction. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Marker Assisted Selection can Reduce True as well as Pedigree Estimated Inbreeding

    DEFF Research Database (Denmark)

    Pedersen, L D; Sørensen, A C; Berg, P

    2009-01-01

    This study investigated whether selection using genotype information reduced the rate and level of true inbreeding, that is, identity by descent, at a selectively neutral locus as well as a locus under selection compared with traditional BLUP selection. In addition, the founder representation...... each of 40 herds. Selection was performed using BLUP, marker-assisted, or gene-assisted selection for a trait with low heritability (h2 = 0.04) only expressed in females, mimicking a health trait. The simulated genome consisted of 2 chromosomes. One biallelic quantitative trait loci (QTL......) with an initial frequency of the favorable allele of 0.1, and initially explaining 25% of the genetic variance as well as 4 markers were simulated in linkage disequilibrium, all positioned at chromosome 1. Chromosome 2 was selectively neutral, and consisted of a single neutral locus. The results showed...

  13. Differential expression among tissues in morbidly obese individuals using a finite mixture model under BLUP approach

    DEFF Research Database (Denmark)

    Kogelman, Lisette; Trabzuni, Daniah; Bonder, Marc Jan

    effects of the interactions between tissues and probes using BLUP (Best Linear Unbiased Prediction) linear models correcting for gender, which were subsequently used in a finite mixture model to detect DE genes in each tissue. This approach evades the multiple-testing problem and is able to detect...

  14. The morality of assisted reproduction and genetic manipulation

    Directory of Open Access Journals (Sweden)

    Mori Maurizio

    1999-01-01

    Full Text Available The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement are those of the rational type, based on universally acceptable ethical principles or corroborated by empirical facts and real life experience (as the starting point for identifying problems requiring analysis. After an analysis in which he identifies the incoherence and inconsistency of arguments against assisted reproduction, the author defends the right of human beings to decide autonomously about the most healthy forms of procreation, including those involving genetic manipulation. His starting point is the moral principle by which it is morally preferable to intervene in natural processes (as opposed to not intervening whenever this implies preventing and reducing disease and suffering

  15. The morality of assisted reproduction and genetic manipulation

    Directory of Open Access Journals (Sweden)

    Maurizio Mori

    Full Text Available The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement are those of the rational type, based on universally acceptable ethical principles or corroborated by empirical facts and real life experience (as the starting point for identifying problems requiring analysis. After an analysis in which he identifies the incoherence and inconsistency of arguments against assisted reproduction, the author defends the right of human beings to decide autonomously about the most healthy forms of procreation, including those involving genetic manipulation. His starting point is the moral principle by which it is morally preferable to intervene in natural processes (as opposed to not intervening whenever this implies preventing and reducing disease and suffering

  16. High incidence of monozygotic twinning after assisted reproduction is related to genetic information, but not to assisted reproduction technology itself

    Czech Academy of Sciences Publication Activity Database

    Sobek Jr., A.; Zbořilová, B.; Procházka, M.; Šilhánová, E.; Koutná, O.; Klásková, E.; Tkadlec, Emil; Sobek, A.

    2015-01-01

    Roč. 103, č. 3 (2015), s. 756-760 ISSN 0015-0282 Institutional support: RVO:68081766 Keywords : monozygotic twins * genetics * assisted reproduction techniques * infertility Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.426, year: 2015

  17. REML/BLUP and sequential path analysis in estimating genotypic values and interrelationships among simple maize grain yield-related traits.

    Science.gov (United States)

    Olivoto, T; Nardino, M; Carvalho, I R; Follmann, D N; Ferrari, M; Szareski, V J; de Pelegrin, A J; de Souza, V Q

    2017-03-22

    Methodologies using restricted maximum likelihood/best linear unbiased prediction (REML/BLUP) in combination with sequential path analysis in maize are still limited in the literature. Therefore, the aims of this study were: i) to use REML/BLUP-based procedures in order to estimate variance components, genetic parameters, and genotypic values of simple maize hybrids, and ii) to fit stepwise regressions considering genotypic values to form a path diagram with multi-order predictors and minimum multicollinearity that explains the relationships of cause and effect among grain yield-related traits. Fifteen commercial simple maize hybrids were evaluated in multi-environment trials in a randomized complete block design with four replications. The environmental variance (78.80%) and genotype-vs-environment variance (20.83%) accounted for more than 99% of the phenotypic variance of grain yield, which difficult the direct selection of breeders for this trait. The sequential path analysis model allowed the selection of traits with high explanatory power and minimum multicollinearity, resulting in models with elevated fit (R 2 > 0.9 and ε analysis is effective in the evaluation of maize-breeding trials.

  18. Multiple-trait genetic evaluation using genomic matrix

    African Journals Online (AJOL)

    Jane

    2011-07-06

    Jul 6, 2011 ... relationships was estimated through computer simulation and was compared with the accuracy of ... programs, detect animals with superior genetic and select ... genomic matrices in the mixed model equations of BLUP.

  19. Resource allocation for maximizing prediction accuracy and genetic gain of genomic selection in plant breeding: a simulation experiment.

    Science.gov (United States)

    Lorenz, Aaron J

    2013-03-01

    Allocating resources between population size and replication affects both genetic gain through phenotypic selection and quantitative trait loci detection power and effect estimation accuracy for marker-assisted selection (MAS). It is well known that because alleles are replicated across individuals in quantitative trait loci mapping and MAS, more resources should be allocated to increasing population size compared with phenotypic selection. Genomic selection is a form of MAS using all marker information simultaneously to predict individual genetic values for complex traits and has widely been found superior to MAS. No studies have explicitly investigated how resource allocation decisions affect success of genomic selection. My objective was to study the effect of resource allocation on response to MAS and genomic selection in a single biparental population of doubled haploid lines by using computer simulation. Simulation results were compared with previously derived formulas for the calculation of prediction accuracy under different levels of heritability and population size. Response of prediction accuracy to resource allocation strategies differed between genomic selection models (ridge regression best linear unbiased prediction [RR-BLUP], BayesCπ) and multiple linear regression using ordinary least-squares estimation (OLS), leading to different optimal resource allocation choices between OLS and RR-BLUP. For OLS, it was always advantageous to maximize population size at the expense of replication, but a high degree of flexibility was observed for RR-BLUP. Prediction accuracy of doubled haploid lines included in the training set was much greater than of those excluded from the training set, so there was little benefit to phenotyping only a subset of the lines genotyped. Finally, observed prediction accuracies in the simulation compared well to calculated prediction accuracies, indicating these theoretical formulas are useful for making resource allocation

  20. Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

    Science.gov (United States)

    Harper, J C; Aittomäki, K; Borry, P; Cornel, M C; de Wert, G; Dondorp, W; Geraedts, J; Gianaroli, L; Ketterson, K; Liebaers, I; Lundin, K; Mertes, H; Morris, M; Pennings, G; Sermon, K; Spits, C; Soini, S; van Montfoort, A P A; Veiga, A; Vermeesch, J R; Viville, S; Macek, M

    2018-01-01

    Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

  1. Oscilação genética em populações submetidas a métodos de seleção tradicionais e associados a marcadores moleculares Genetic drift in populations under traditional and marker assisted selection

    Directory of Open Access Journals (Sweden)

    Paulo Luiz Souza Carneiro

    2006-02-01

    Full Text Available Com o objetivo de avaliar o efeito da oscilação genética em populações sob seleção com diferentes tamanhos efetivos, foram simulados dados utilizando-se o programa GENESYS. A seleção foi praticada durante 20 gerações consecutivas, com base na seleção individual (SI e nos valores genéticos preditos pelo BLUP Clássico (BLUP e pelo BLUP Marcadores (BLUPM, com 30 repetições. A matriz de similaridade adotada no BLUP Marcadores foi obtida utilizando-se 100 marcadores moleculares do tipo microssatélite, por meio de um coeficiente de similaridade correspondente à distância euclidiana média para dados quantitativos. Foram simuladas seis populações de seleção, correspondendo a dois tamanhos efetivos (18,18 e 66,66 e três sistemas de acasalamento dos reprodutores selecionados (reprodutores acasalados ao acaso, exclusão de irmãos completos e exclusão de irmãos completos e meio-irmãos. O parâmetro avaliado foi o valor fenotípico médio. Observou-se grande variação nos valores fenotípicos obtidos pelos métodos, em razão da oscilação genética, principalmente para a seleção baseada nos valores genéticos preditos pelo BLUP e BLUPM e para as populações com tamanho efetivo menor (18,18. Os resultados sugerem que, em programas de melhoramento que utilizam pequenas populações sob seleção, os resultados podem ser influenciados pela oscilação genética, podendo apresentar grandes variações nos ganhos genéticos.The effect of genetic drift in populations under selection with different effective sizes was evaluated using data simulated by the GENESYS program. Selection was applied during 20 generations based on Individual selection (IS using breeding values predicted by classical best linear unbiased prediction (BLUP and BLUP associated with molecular markers (BLUPM. The similarity matrix used in BLUPM was obtained by simulation of 100 micro-satellites markers (simple sequence repeats using a similarity coefficient

  2. Seleção de progênies de eucalipto pelo índice Z por MQM e Blup

    Directory of Open Access Journals (Sweden)

    Cristiane Aparecida Fioravante Reis

    2011-05-01

    Full Text Available O objetivo deste trabalho foi avaliar a eficiência do índice Z (índice somatório das variáveis padronizadas na seleção de progênies de irmãos completos entre Eucalyptus grandis e Eucalyptus urophylla via método dos quadrados mínimos (MQM e da melhor predição linear não viesada (Blup. Os experimentos foram realizados em dois tipos de solo e de ambiente, em blocos ao acaso com cinco repetições, oito plantas por parcela e espaçamento de 3x2 m. Aos três anos de idade, as plantas foram avaliadas quanto ao incremento médio anual de madeira, à densidade básica, ao rendimento de celulose e ao álcali efetivo. Para a comparação da eficiência da seleção das melhores progênies, pelos procedimentos MQM e Blup, foi obtido o índice Z para cada indivíduo. Posteriormente, foram obtidas as médias preditas das progênies para o índice Z, ranqueadas em sentido favorável ao melhoramento. O índice clássico também foi utilizado. A coincidência entre as melhores progênies selecionadas pelos índices clássico e Z foi boa. No entanto, o índice Z permite visualização gráfica, o que possibilita verificar em quais caracteres uma determinada progênie apresenta alguma deficiência. Não há diferença entre as melhores progênies selecionadas pelo índice Z via MQM e Blup.

  3. Assisted procreation and its relationship to genetics and eugenics.

    Science.gov (United States)

    Ricci, Mariella Lombardi

    2009-01-01

    The article below is intended to reflect on whether or not a eugenic tendency constitutes an intrinsic element of human fertilization in vitro. The author outlines ideas and circumstances which characterized the foundation and propagation of eugenics between the eighteenth and nineteenth centuries. A brief discussion follows on some of the standard procedures of in vitro fertilization, and in particular, those which manifest a trace or hint of eugenics--heterologous fertilization and sperm banking, preimplantation genetic diagnosis (PGD) and embryo selection--practices which, nonetheless, are used on a large scale and shed light on both the essence of procreative medicine and on the current cultural environment. The objective of the article is to explore whether it is possible to eliminate the eugenic connotations without foregoing the benefits of technical and scientific progress.

  4. No increase in autism-associated genetic events in children conceived by assisted reproduction.

    Science.gov (United States)

    Ackerman, Sean; Wenegrat, Julia; Rettew, David; Althoff, Robert; Bernier, Raphael

    2014-08-01

    To understand the rate of genetic events in patients with autism spectrum disorder (ASD) who were exposed to assisted reproduction. Case control study using genetics data. Twelve collaborating data collection sites across North America as part of the Simons Simplex Collection. 2,760 children with ASD, for whom 1,994 had published copy number variation data and 424 had published gene mutation status available. None. Rates of autism-associated genetic events in children with ASD conceived with assisted reproduction versus those conceived naturally. No statistically significant differences in copy number variations or autism-associated gene-disrupting events were found when comparing ASD patients exposed to assisted reproduction with those not exposed to assisted reproduction. This is the first large genetic association to concurrently examine the genotype of individuals with ASD in relation to their exposure to ART versus natural conception, and it adds reassuring evidence to the argument that ART does not increase the risk of ASD. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. [Assisted Reproduction and Preimplantation Genetic Diagnosis in Patients Susceptible to Breast Cancer].

    Science.gov (United States)

    Veselá, K; Kocur, T; Horák, J; Horňák, M; Oráčová, E; Hromadová, L; Veselý, J; Trávník, P

    2016-01-01

    Assisted reproduction, as well as pregnancy itself, in patients with breast cancer or other hereditary type of cancer, is a widely discussed topic. In the past, patients treated for breast cancer were rarely involved in the discussion about reproductive possibilities or infertility treatment. However, current knowledge suggests, that breast cancer is neither a contraindication to pregnancy, nor to assisted reproduction techniques. On the contrary, assisted reproduction and preimplantation genetic diagnosis methods might prevent the transmission of genetic risks to the fetus. In this review we summarize data concerning pregnancy risks in patients with increased risk of breast cancer. In addition, we introduce current possibilities and approaches to fertility preservation prior to assisted reproduction treatment as well as novel methods improving the safety of fertility treatment. In the second part of this review, we focus on karyomapping--an advanced molecular genetic tool for elimination of germinal mutations in patients with predisposition to cancer. Moreover, the rapid development of preimplantation genetic diagnosis methods contributes to detection of both chromosomal aneuploidy and causal mutations in a relatively short time-span.

  6. Marker-assisted selection in dairy cattle

    International Nuclear Information System (INIS)

    Weller, J.I.

    2007-01-01

    Considering the long generation interval, the high value of each individual, the very limited female fertility and the fact that nearly all economic traits are expressed only in females, it would seem that cattle should be a nearly ideal species for application of marker-assisted selection (MAS). As genetic gains are cumulative and eternal, application of new technologies that increase rates of genetic gain can be profitable even if the nominal annual costs are several times the value of the nominal additional annual genetic gain. Complete genome scans for quantitative trait loci (QTL) based on the granddaughter design have been completed for most commercial dairy cattle populations, and significant across-study effects for economic traits have been found on chromosomes 1, 3, 6, 9, 10, 14 and 20. Quantitative trait loci associated with trypanotolerance have been detected in a cross between the African N'Dama and the Boran breeds as the first step in the introgression of these genes into breeds susceptible to trypanosomosis. In dairy cattle, the actual DNA polymorphism has been determined twice, for QTL on BTA 6 and BTA 14. In both cases the polymorphism caused a non-conservative amino acid change, and both QTL chiefly affect fat and protein concentration. Most theoretical studies have estimated the expected gains that can be obtained by MAS to be in the range of a 5 to 20 percent increase in the rates of genetic gain obtained by traditional selection programmes. Applied MAS programmes have commenced for French and German Holsteins. In both programmes genetic evaluations including QTL effects are computed by variants of marker-assisted best linear unbiased prediction (MA-BLUP). (author)

  7. Seleção tradicional e associada a marcadores moleculares na avaliação genética animal Traditional and associated selection with molecular markers in the genetic evaluation of animals

    Directory of Open Access Journals (Sweden)

    Paulo Luiz Souza Carneiro

    2006-04-01

    Full Text Available O objetivo deste trabalho foi comparar a seleção, utilizando valores genéticos preditos pelo BLUP clássico (BLUP, BLUP marcadores (BLUPM e pela seleção individual (SI, usando simulação com o programa Genesys. Para obter a matriz de similaridade genética utilizada no BLUPM, foram simulados cem marcadores moleculares do tipo microssatélite (SSR - Simple Sequence Repeat, por meio de um coeficiente de similaridade correspondente à distância euclideana média para dados quantitativos. A fim de comparar os diferentes métodos, utilizaram-se populações com tamanho efetivo de 66,66 e média de 30 repetições, avaliando-se os valores fenotípicos médios. Os ganhos ao longo das 20 gerações de seleção foram maiores para o BLUP em relação ao BLUPM, e este foi superior à SI. Quanto ao ganho obtido nas cinco primeiras gerações, o BLUPM apresentou ganhos semelhantes ao BLUP e superiores à SI. Diferentes sistemas de acasalamento dos reprodutores selecionados não revelaram diferenças em ganho genético nos métodos baseados no BLUP.The objective of this work was to compare selection based on breeding values predicted by classical best linear unbiased prediction (BLUP, BLUP associated with molecular markers (BLUPM and individual selection (IS using data simulated with the Genesys program. To obtain the genetic similarity matrix to be used in BLUPM, a hundred microsatellite markers (simple sequence repeats were simulated using a similarity coefficient corresponding to the mean Euclidean distance between quantitative data. The different selection methods were compared using populations of an effective size of 66.66 and a mean of 30 repetitions, and mean phenotypic values were determined. Genetic gain obtained over 20 generations of selection was higher for BLUP than BLUPM, which in turn was superior to IS. Similar genetic gains were obtained for BLUPM and BLUP only when the gain for the first five generations was considered, and these

  8. Expanding Possibilities for Intervention against Small Ruminant Lentiviruses through Genetic Marker-Assisted Selective Breeding

    Science.gov (United States)

    White, Stephen N.; Knowles, Donald P.

    2013-01-01

    Small ruminant lentiviruses include members that infect sheep (ovine lentivirus [OvLV]; also known as ovine progressive pneumonia virus/maedi-visna virus) and goats (caprine arthritis encephalitis virus [CAEV]). Breed differences in seroprevalence and proviral concentration of OvLV had suggested a strong genetic component in susceptibility to infection by OvLV in sheep. A genetic marker test for susceptibility to OvLV has been developed recently based on the TMEM154 gene with validation data from over 2,800 sheep representing nine cohorts. While no single genotype has been shown to have complete resistance to OvLV, consistent association in thousands of sheep from multiple breeds and management conditions highlight a new strategy for intervention by selective breeding. This genetic marker-assisted selection (MAS) has the potential to be a useful addition to existing viral control measures. Further, the discovery of multiple additional genomic regions associated with susceptibility to or control of OvLV suggests that additional genetic marker tests may be developed to extend the reach of MAS in the future. This review will cover the strengths and limitations of existing data from host genetics as an intervention and outline additional questions for future genetic research in sheep, goats, small ruminant lentiviruses, and their host-pathogen interactions. PMID:23771240

  9. Expanding Possibilities for Intervention against Small Ruminant Lentiviruses through Genetic Marker-Assisted Selective Breeding

    Directory of Open Access Journals (Sweden)

    Donald P. Knowles

    2013-06-01

    Full Text Available Small ruminant lentiviruses include members that infect sheep (ovine lentivirus [OvLV]; also known as ovine progressive pneumonia virus/maedi-visna virus and goats (caprine arthritis encephalitis virus [CAEV]. Breed differences in seroprevalence and proviral concentration of OvLV had suggested a strong genetic component in susceptibility to infection by OvLV in sheep. A genetic marker test for susceptibility to OvLV has been developed recently based on the TMEM154 gene with validation data from over 2,800 sheep representing nine cohorts. While no single genotype has been shown to have complete resistance to OvLV, consistent association in thousands of sheep from multiple breeds and management conditions highlight a new strategy for intervention by selective breeding. This genetic marker-assisted selection (MAS has the potential to be a useful addition to existing viral control measures. Further, the discovery of multiple additional genomic regions associated with susceptibility to or control of OvLV suggests that additional genetic marker tests may be developed to extend the reach of MAS in the future. This review will cover the strengths and limitations of existing data from host genetics as an intervention and outline additional questions for future genetic research in sheep, goats, small ruminant lentiviruses, and their host-pathogen interactions.

  10. Genomic prediction by single-step genomic BLUP using cow reference population in Holstein crossbred cattle in India

    DEFF Research Database (Denmark)

    Nayee, Nilesh Kumar; Su, Guosheng; Gajjar, Swapnil

    2018-01-01

    Advantages of genomic selection in breeds with limited numbers of progeny tested bulls have been demonstrated by adding genotypes of females to the reference population (Thomasen et al., 2014). The current study was conducted to explore the feasibility of implementing genomic selection in a Holst......Advantages of genomic selection in breeds with limited numbers of progeny tested bulls have been demonstrated by adding genotypes of females to the reference population (Thomasen et al., 2014). The current study was conducted to explore the feasibility of implementing genomic selection...... in a Holstein Friesian crossbred population with cows kept under small holder conditions using test day records and single step genomic BLUP (ssGBLUP). Milk yield records from 10,797 daughters sired by 258 bulls were used Of these 2194 daughters and 109 sires were genotyped with customized genotyping chip...

  11. High incidence of monozygotic twinning after assisted reproduction is related to genetic information, but not to assisted reproduction technology itself.

    Science.gov (United States)

    Sobek, Aleš; Zbořilová, Blažena; Procházka, Martin; Šilhánová, Eva; Koutná, Olga; Klásková, Eva; Tkadlec, Emil; Sobek, Aleš

    2015-03-01

    To study the incidence of monozygotic twinning (MZT) in patients using in vitro fertilization, relative to their age, genetic background, ovarian function, and assisted reproductive techniques used. Analysis of a collected database. Infertility treatment center. A total of 1,876 patients receiving infertility treatment between 2000 and 2012. Pregnancies with monozygotic twins (A: 23) were compared with deliveries of dizygotic twins (B: 423), singleton pregnancies (C: 880), and aborted pregnancies (D: 389). None. A genetic survey on multiple pregnancies in the extended family. Measures were micromanipulation technique, the length of embryo cultivation, type of cultivation media, basal follicle-stimulating hormone level, estradiol level on the day of human chorionic gonadotropin administration, number of oocytes, total consumption of gonadotropins, and consumption of gonadotropins needed for recovery of 1 oocyte. No differences were found between the incidence of MZT in cycles that did vs. did not use micromanipulation techniques. In addition, the length of embryo cultivation or type of cultivation media used did not affect the results. Estradiol levels and implantation rates were significantly higher in group A. The incidence of MZT in families in group A was significantly higher than that in groups B and C. We propose that the high incidence of MZT in infertility-clinic patients is conditioned by hereditary factors, and good ovarian function only facilitates the expression. The resulting recommendation is that young women with a positive family history and good ovarian function undergo elective single-embryo transfer, and proper counseling is advisable. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. Single-Step BLUP with Varying Genotyping Effort in Open-Pollinated Picea glauca.

    Science.gov (United States)

    Ratcliffe, Blaise; El-Dien, Omnia Gamal; Cappa, Eduardo P; Porth, Ilga; Klápště, Jaroslav; Chen, Charles; El-Kassaby, Yousry A

    2017-03-10

    Maximization of genetic gain in forest tree breeding programs is contingent on the accuracy of the predicted breeding values and precision of the estimated genetic parameters. We investigated the effect of the combined use of contemporary pedigree information and genomic relatedness estimates on the accuracy of predicted breeding values and precision of estimated genetic parameters, as well as rankings of selection candidates, using single-step genomic evaluation (HBLUP). In this study, two traits with diverse heritabilities [tree height (HT) and wood density (WD)] were assessed at various levels of family genotyping efforts (0, 25, 50, 75, and 100%) from a population of white spruce ( Picea glauca ) consisting of 1694 trees from 214 open-pollinated families, representing 43 provenances in Québec, Canada. The results revealed that HBLUP bivariate analysis is effective in reducing the known bias in heritability estimates of open-pollinated populations, as it exposes hidden relatedness, potential pedigree errors, and inbreeding. The addition of genomic information in the analysis considerably improved the accuracy in breeding value estimates by accounting for both Mendelian sampling and historical coancestry that were not captured by the contemporary pedigree alone. Increasing family genotyping efforts were associated with continuous improvement in model fit, precision of genetic parameters, and breeding value accuracy. Yet, improvements were observed even at minimal genotyping effort, indicating that even modest genotyping effort is effective in improving genetic evaluation. The combined utilization of both pedigree and genomic information may be a cost-effective approach to increase the accuracy of breeding values in forest tree breeding programs where shallow pedigrees and large testing populations are the norm. Copyright © 2017 Ratcliffe et al.

  13. Single-Step BLUP with Varying Genotyping Effort in Open-Pollinated Picea glauca

    Directory of Open Access Journals (Sweden)

    Blaise Ratcliffe

    2017-03-01

    Full Text Available Maximization of genetic gain in forest tree breeding programs is contingent on the accuracy of the predicted breeding values and precision of the estimated genetic parameters. We investigated the effect of the combined use of contemporary pedigree information and genomic relatedness estimates on the accuracy of predicted breeding values and precision of estimated genetic parameters, as well as rankings of selection candidates, using single-step genomic evaluation (HBLUP. In this study, two traits with diverse heritabilities [tree height (HT and wood density (WD] were assessed at various levels of family genotyping efforts (0, 25, 50, 75, and 100% from a population of white spruce (Picea glauca consisting of 1694 trees from 214 open-pollinated families, representing 43 provenances in Québec, Canada. The results revealed that HBLUP bivariate analysis is effective in reducing the known bias in heritability estimates of open-pollinated populations, as it exposes hidden relatedness, potential pedigree errors, and inbreeding. The addition of genomic information in the analysis considerably improved the accuracy in breeding value estimates by accounting for both Mendelian sampling and historical coancestry that were not captured by the contemporary pedigree alone. Increasing family genotyping efforts were associated with continuous improvement in model fit, precision of genetic parameters, and breeding value accuracy. Yet, improvements were observed even at minimal genotyping effort, indicating that even modest genotyping effort is effective in improving genetic evaluation. The combined utilization of both pedigree and genomic information may be a cost-effective approach to increase the accuracy of breeding values in forest tree breeding programs where shallow pedigrees and large testing populations are the norm.

  14. Surrogate-Assisted Genetic Programming With Simplified Models for Automated Design of Dispatching Rules.

    Science.gov (United States)

    Nguyen, Su; Zhang, Mengjie; Tan, Kay Chen

    2017-09-01

    Automated design of dispatching rules for production systems has been an interesting research topic over the last several years. Machine learning, especially genetic programming (GP), has been a powerful approach to dealing with this design problem. However, intensive computational requirements, accuracy and interpretability are still its limitations. This paper aims at developing a new surrogate assisted GP to help improving the quality of the evolved rules without significant computational costs. The experiments have verified the effectiveness and efficiency of the proposed algorithms as compared to those in the literature. Furthermore, new simplification and visualisation approaches have also been developed to improve the interpretability of the evolved rules. These approaches have shown great potentials and proved to be a critical part of the automated design system.

  15. Cell and genetic predictors of human blastocyst hatching success in assisted reproduction.

    Science.gov (United States)

    Syrkasheva, Anastasiya G; Dolgushina, Nataliya V; Romanov, Andrey Yu; Burmenskaya, Olga V; Makarova, Nataliya P; Ibragimova, Espet O; Kalinina, Elena A; Sukhikh, Gennady T

    2017-10-01

    The aim was to identify cell and genetic predictors of human blastocyst hatching success in assisted reproduction programmes via a prospective case-control study. Blastocysts, donated by couples in assisted reproduction programmes were used. Hatching success assessment was performed after 144-146 h post-fertilization. The mRNA expression levels of cathepsin V (CTSV), GATA-binding protein 3 (GATA3) and human chorionic gonadotropin beta subunit 3, 5, 7 and 8 (CGB) genes were detected by quantitative real-time polymerase chain reaction. The odds ratio (OR) of hatching due to zona pellucida (ZP) thickness, oocyte and sperm quality, embryo quality and mRNA expression of CTSV, GATA3 and CGB genes in blastocysts was determined. From 62 blastocysts included in the study, 47 (75.8%) were unable to hatch spontaneously. The ZP thickening, and oocyte and sperm quality did not affect human blastocyst ability to hatch, except the combination of cytoplasmic and extracytoplasmic oocyte dysmorphisms (OR = 1.25; 95% confidence interval = 1.08, 1.45). Hatching-capable blastocysts had higher Gardner scale grade and mRNA expression of CTSV, GATA3 and CGB genes than hatching-incapable blastocysts. The human blastocyst hatching success depends on the blastocyst Gardner grade, but not on ZP and gamete quality. Blastocyst development was regulated by CTSV, GATA3 and CGB gene expression.

  16. Modeling of genetic gain for single traits from marker-assisted seedling selection in clonally propagated crops

    Science.gov (United States)

    Ru, Sushan; Hardner, Craig; Carter, Patrick A; Evans, Kate; Main, Dorrie; Peace, Cameron

    2016-01-01

    Seedling selection identifies superior seedlings as candidate cultivars based on predicted genetic potential for traits of interest. Traditionally, genetic potential is determined by phenotypic evaluation. With the availability of DNA tests for some agronomically important traits, breeders have the opportunity to include DNA information in their seedling selection operations—known as marker-assisted seedling selection. A major challenge in deploying marker-assisted seedling selection in clonally propagated crops is a lack of knowledge in genetic gain achievable from alternative strategies. Existing models based on additive effects considering seed-propagated crops are not directly relevant for seedling selection of clonally propagated crops, as clonal propagation captures all genetic effects, not just additive. This study modeled genetic gain from traditional and various marker-based seedling selection strategies on a single trait basis through analytical derivation and stochastic simulation, based on a generalized seedling selection scheme of clonally propagated crops. Various trait-test scenarios with a range of broad-sense heritability and proportion of genotypic variance explained by DNA markers were simulated for two populations with different segregation patterns. Both derived and simulated results indicated that marker-based strategies tended to achieve higher genetic gain than phenotypic seedling selection for a trait where the proportion of genotypic variance explained by marker information was greater than the broad-sense heritability. Results from this study provides guidance in optimizing genetic gain from seedling selection for single traits where DNA tests providing marker information are available. PMID:27148453

  17. A review of the key genetic tools to assist imperiled species conservation: analyzing West Indian manatee populations

    Science.gov (United States)

    Bonde, Robert K.; McGuire, Peter M.; Hunter, Margaret E.

    2012-01-01

    Managers faced with decisions on threatened and endangered wildlife populations often are lacking detailed information about the species of concern. Integration of genetic applications will provide management teams with a better ability to assess and monitor recovery efforts on imperiled species. The field of molecular biology continues to progress rapidly and many tools are currently available. Presently, little guidance is available to assist researchers and managers with the appropriate selection of genetic tools to study the status of wild manatee populations. We discuss several genetic tools currently employed in the application of conservation genetics, and address the utility of using these tools to determine population status to aid in conservation efforts. As an example, special emphasis is focused on the endangered West Indian manatee (Order Sirenia). All four extant species of sirenians are imperiled throughout their range, predominately due to anthropogenic sources; therefore, the need for genetic information on their population status is direly needed.

  18. Selección genética de plantas elites de palma aceitera, utilizando software SELEGEN REML/BLUP

    Directory of Open Access Journals (Sweden)

    Carlos Oliva

    2014-01-01

    Full Text Available La palma aceitera es uno de cultivos de la Amazonía Peruana, que genera en los inversionistas mayor interés,que ha permitido instalar al menos 70 mil ha. Al Perú ha ingresado semillas de palma aceitera de alto valorgenético, por su resistencia a enfermedad, plagas y alto rendimiento, pero durante el tiempo ha experimentadovariabilidad en los diferentes ecosistemas del país.Este trabajo tuvo por objetivo la selección genéticacomputarizada para la selección de plantas elites de alto rendimiento de racimos de fruta fresca (RFF depalma aceitera. Para realizar el análisis genético computarizado, se dispuso del software SELEGEN Rml/Blup,que es un programa diseñado para el análisis y la selección. Benin y Costa deMarfil son las que tienen mejorpromedio, cuyo valor mínimo es de 22,1 kg/planta y el valor máximo corresponde de 375,9 kg/planta. Elhibrido 2301 tiene los mejores promedios de rendimiento, seguido por el híbrido 2401, cuyo valores derendimiento extremosmáximo superior a 340 kg/planta. El primer año, el rendimiento promedio fue de 46,62kg/planta y para el tercer año de producción el promedio pasó a 142,82 kg/pl. La repetibilidad individual pararendimiento de RFF kg/planta en ambos grupos 2007 y 2008 fue de 0,10 y la repetibilidad del promedio decosechas fue de 0,87 y 0,82 para los grupos 2007 y 2008, respectivamente. Esto propició una exactitudselectiva de 0,93 para el grupo 2007 y de 0,90 para el grupo del 2008.

  19. The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology.

    Science.gov (United States)

    2006-08-01

    Infertility and reproductive genetic risk are both increasing in our societies because of lifestyle changes and possibly environmental factors. Owing to the magnitude of the problem, they have implications not only at the individual and family levels but also at the community level. This leads to an increasing demand for access to assisted reproduction technology (ART) and genetic services, especially when the cause of infertility may be genetic in origin. The increasing application of genetics in reproductive medicine and vice versa requires closer collaboration between the two disciplines. ART and genetics are rapidly evolving fields where new technologies are currently introduced without sufficient knowledge of their potential long-term effects. As for any medical procedures, there are possible unexpected effects which need to be envisaged to make sure that the balance between benefits and risks is clearly on the benefit side. The development of ART and genetics as scientific activities is creating an opportunity to understand the early stages of human development, which is leading to new and challenging findings/knowledge. However, there are opinions against investigating the early stages of development in humans who deserve respect and attention. For all these reasons, these two societies, European Society of Human Genetics (ESHG) and European Society of Human Reproduction and Embryology (ESHRE), have joined efforts to explore the issues at stake and to set up recommendations to maximize the benefit for the couples in need and for the community.

  20. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

    Science.gov (United States)

    Harper, Joyce; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo J; 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

    2014-08-01

    How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. 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 ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs 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 (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

  1. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

    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

    2013-01-01

    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

  2. Hybridization between multi-objective genetic algorithm and support vector machine for feature selection in walker-assisted gait.

    Science.gov (United States)

    Martins, Maria; Costa, Lino; Frizera, Anselmo; Ceres, Ramón; Santos, Cristina

    2014-03-01

    Walker devices are often prescribed incorrectly to patients, leading to the increase of dissatisfaction and occurrence of several problems, such as, discomfort and pain. Thus, it is necessary to objectively evaluate the effects that assisted gait can have on the gait patterns of walker users, comparatively to a non-assisted gait. A gait analysis, focusing on spatiotemporal and kinematics parameters, will be issued for this purpose. However, gait analysis yields redundant information that often is difficult to interpret. This study addresses the problem of selecting the most relevant gait features required to differentiate between assisted and non-assisted gait. For that purpose, it is presented an efficient approach that combines evolutionary techniques, based on genetic algorithms, and support vector machine algorithms, to discriminate differences between assisted and non-assisted gait with a walker with forearm supports. For comparison purposes, other classification algorithms are verified. Results with healthy subjects show that the main differences are characterized by balance and joints excursion in the sagittal plane. These results, confirmed by clinical evidence, allow concluding that this technique is an efficient feature selection approach. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  3. About Genetic Counselors

    Science.gov (United States)

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

  4. Use of preimplantation genetic diagnosis and preimplantation genetic screening in the United States: a Society for Assisted Reproductive Technology Writing Group paper.

    Science.gov (United States)

    Ginsburg, Elizabeth S; Baker, Valerie L; Racowsky, Catherine; Wantman, Ethan; Goldfarb, James; Stern, Judy E

    2011-10-01

    To comprehensively report Society for Assisted Reproductive Technology (SART) member program usage of preimplantation genetic testing (PGT), preimplantation genetic diagnosis (PGD) for diagnosis of specific conditions, and preimplantation genetic screening for aneuploidy (PGS). Retrospective study. United States SART cohort data. Women undergoing a PGT cycle in which at least one embryo underwent biopsy. PGT. PGT use, indications, and delivery rates. Of 190,260 fresh, nondonor assisted reproductive technology (ART) cycles reported to SART CORS in 2007-2008, 8,337 included PGT. Of 6,971 cycles with a defined indication, 1,382 cycles were for genetic diagnosis, 3,645 for aneuploidy screening (PGS), 527 for translocation, and 1,417 for elective sex election. Although the total number of fresh, autologous cycles increased by 3.6% from 2007 to 2008, the percentage of cycles with PGT decreased by 5.8% (4,293 in 2007 and 4,044 in 2008). As a percentage of fresh, nondonor ART cycles, use dropped from 4.6% (4,293/93,433) in 2007 to 4.2% (4,044/96,827) in 2008. The primary indication for PGT was PGS: cycles performed for this indication decreased (-8.0%). PGD use for single-gene defects (+3.2%), elective sex selection (+5.3%), and translocation analysis (+0.5%) increased. PGT usage varied significantly by geographical region. PGT usage in the United States decreased between 2007 and 2008 owing to a decrease in PGS. Use of elective sex selection increased. High transfer cancellation rates correlated with reduced live-birth rates for some PGT indications. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Marker-assisted-selection (MAS): A fast track to increase genetic ...

    African Journals Online (AJOL)

    Administrator

    2011-09-21

    Sep 21, 2011 ... protein maize (QPM) through marker-assisted transfer of a recessive mutant ... and number which collectively determine the yield poten- tial (Monforte et .... A wide gap appears to exist between tagging genes with markers and ...

  6. Systematic differences in the response of genetic variation to pedigree and genome-based selection methods.

    Science.gov (United States)

    Heidaritabar, M; Vereijken, A; Muir, W M; Meuwissen, T; Cheng, H; Megens, H-J; Groenen, M A M; Bastiaansen, J W M

    2014-12-01

    Genomic selection (GS) is a DNA-based method of selecting for quantitative traits in animal and plant breeding, and offers a potentially superior alternative to traditional breeding methods that rely on pedigree and phenotype information. Using a 60 K SNP chip with markers spaced throughout the entire chicken genome, we compared the impact of GS and traditional BLUP (best linear unbiased prediction) selection methods applied side-by-side in three different lines of egg-laying chickens. Differences were demonstrated between methods, both at the level and genomic distribution of allele frequency changes. In all three lines, the average allele frequency changes were larger with GS, 0.056 0.064 and 0.066, compared with BLUP, 0.044, 0.045 and 0.036 for lines B1, B2 and W1, respectively. With BLUP, 35 selected regions (empirical P selected regions were identified. Empirical thresholds for local allele frequency changes were determined from gene dropping, and differed considerably between GS (0.167-0.198) and BLUP (0.105-0.126). Between lines, the genomic regions with large changes in allele frequencies showed limited overlap. Our results show that GS applies selection pressure much more locally than BLUP, resulting in larger allele frequency changes. With these results, novel insights into the nature of selection on quantitative traits have been gained and important questions regarding the long-term impact of GS are raised. The rapid changes to a part of the genetic architecture, while another part may not be selected, at least in the short term, require careful consideration, especially when selection occurs before phenotypes are observed.

  7. ISSR marker-assisted genetic diversity analysis of Dioscorea hispida and selection of the best variety for sustainable production.

    Science.gov (United States)

    Nudin, Nur Fatihah Hasan; Ali, Abdul Manaf; Ngah, Norhayati; Mazlan, Nor Zuhailah; Mat, Nashriyah; Ghani, Mohd Noor Abd; Alias, Nadiawati; Zakaria, Abd Jamil; Jahan, Md Sarwar

    2017-08-01

    Plant breeding is a way of selection of a particular individual for the production of the progeny by separating or combining desired characteristics. The objective of this study was to justify different characteristics of Dioscorea hispida (Ubi gadong) varieties using molecular techniques to select the best variety for sustainable production at the farmer's level. A total of 160 germplasms of Ubi gadong were collected from different locations at the Terengganu and Kelantan states of Malaysia. Forty eight (48) out of 160 germplasms were selected as "primary" selection based on yield and other qualitative characters. Selected collections were then grown and maintained for ISSR marker-assisted genetic diversity analysis. Overall plant growth and yield of tubers were also determined. A total of 12 ISSR markers were tested to justify the characteristics of Ubi gadong varieties among which three markers showed polymorphic bands and on average 57.3% polymorphism were observed representing the highest variation among germplasms. The ISSR marker based on UPGMA cluster analysis grouped all 48 D. hispida into 10 vital groups that proved a vast genetic variation among germplasm collections. Therefore, hybridization should be made between two distant populations. The D. hispida is already proved as the highest starch content tuber crops and very rich in vitamins with both micro and macro minerals. Considering all these criteria and results from marker-assisted diversity analysis, accessions that are far apart based on their genetic coefficient (like DH27 and DH71; DH30 and DH70; DH43 and DH62; DH45 and DH61; DH77 and DH61; DH78 and DH57) could be selected as parents for further breeding programs. This will bring about greater diversity, which will lead to high productive index in terms of increase in yield and overall quality and for the ultimate target of sustainable Ubi gadong production. Copyright © 2017 Académie des sciences. Published by Elsevier Masson SAS. All rights

  8. Marker-assisted-selection (MAS): A fast track to increase genetic ...

    African Journals Online (AJOL)

    Mapping and tagging of agriculturally important genes have been greatly facilitated by an array of molecular markers in crop plants. Marker-assisted selection (MAS) is gaining considerable importance as it would improve the efficiency of plant breeding through precise transfer of genomic regions of interest (foreground ...

  9. Ethical challenges in assisted reproduction: the place of preimplantation genetic diagnosis in a just society.

    Science.gov (United States)

    Whetstine, Leslie M

    2015-04-01

    The purpose of this article is to provide an overview of preimplantation genetic diagnosis and identify the relevant moral questions it raises. In the course of this discussion, the scope of parental rights and the inherent difficulty in defining disease/disability will be considered. © The Author(s) 2013.

  10. Reproduction in the Genetic Age: A Proposed Scheme for the Regulation of Assisted Reproductive Technologies

    OpenAIRE

    Lindstrom, Laura J.

    2002-01-01

    In the last several years, there have been a number of advances in the area of assisted (or advanced) reproductive technology (ART) that are so fantastic that they strain the credulity of even those well-versed in medicine and science. Moreover, the potential medical, legal, psychological, and social repercussions of the applications of these technologies cause most people who hear about their use to worry somewhat about the ramifications. In fact, part of the general fear of these technologi...

  11. Marker-assisted selection as a potential tool for genetic improvement in developing countries: debating the issues

    International Nuclear Information System (INIS)

    Robinson, J.; Ruane, J.

    2007-01-01

    Marker-assisted selection (MAS) is a complementary technology, for use in conjunction with more established conventional methods of genetic selection, for plant and animal improvement. It has generated a good deal of expectations, many of which have yet to be realized. Although documentation is limited, the current impact of MAS on products delivered to farmers seems small. While the future possibilities and potential impacts of MAS are considerable, there are also obstacles to its use, particularly in developing countries. Principal among these are issues relating to current high costs of the technology and its appropriateness, given that publicly funded agricultural research in many developing countries is suboptimal and development priorities do not necessarily include genetic improvement programmes. Other potential obstacles to the uptake of MAS in developing countries include limited infrastructure, the absence of conventional selection and breeding programmes, poor private sector involvement and lack of research on specific crops of importance in developing countries. Intellectual property rights may also be an important constraint to development and uptake of MAS in the developing world. It is hoped that through partnerships between developing and developed country institutions and individuals, including public-private sector collaboration, MAS costs can be reduced, resources pooled and shared and capacity developed. With the assistance of the Consultative Group on International Agricultural Research (CGIAR) and international organizations such as FAO, developing countries can benefit more from MAS. These were some of the outcomes of a moderated e-mail conference, entitled 'Molecular Marker- Assisted Selection as a Potential Tool for Genetic Improvement of Crops, Forest Trees, Livestock and Fish in Developing Countries', that FAO hosted at the end of 2003. During the four-week conference, 627 people subscribed and 85 messages were posted, about 60 percent

  12. [Exploration and practice of genetics teaching assisted by network technology platform].

    Science.gov (United States)

    Li, Ya-Xuan; Zhang, Fei-Xiong; Zhao, Xin; Cai, Min-Hua; Yan, Yue-Ming; Hu, Ying-Kao

    2010-04-01

    More teaching techniques have been brought out gradually along with the development of new technologies. On the basis of those traditional teaching methods, a new platform has been set up by the network technology for teaching process. In genetics teaching, it is possible to use the network platform to guide student studying, promote student's learning interest and study independently by themselves. It has been proved, after exploring and applying for many years, that network teaching is one of the most useful methods and has inimitable advantage comparing to the traditional ones in genetics teaching. The establishment of network teaching platform, the advantage and deficiency and relevant strategies were intro-duced in this paper.

  13. Network-assisted crop systems genetics: network inference and integrative analysis.

    Science.gov (United States)

    Lee, Tak; Kim, Hyojin; Lee, Insuk

    2015-04-01

    Although next-generation sequencing (NGS) technology has enabled the decoding of many crop species genomes, most of the underlying genetic components for economically important crop traits remain to be determined. Network approaches have proven useful for the study of the reference plant, Arabidopsis thaliana, and the success of network-based crop genetics will also require the availability of a genome-scale functional networks for crop species. In this review, we discuss how to construct functional networks and elucidate the holistic view of a crop system. The crop gene network then can be used for gene prioritization and the analysis of resequencing-based genome-wide association study (GWAS) data, the amount of which will rapidly grow in the field of crop science in the coming years. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Efeitos da seleção individual e da seleção baseada no BLUP em populações diferentes, quanto ao tipo de acasalamento Individual selection and selection based on BLUP effects in different populations, according to mating design

    Directory of Open Access Journals (Sweden)

    E.E. Cunha

    2004-02-01

    Full Text Available Dados simulados foram utilizados para avaliar o desempenho da seleção individual e da seleção baseada no melhor preditor linear não-viesado (BLUP, em populações que diferiam entre si, quanto ao tipo de acasalamento, no decorrer de 50 gerações. Estudou-se uma característica quantitativa com herdabilidade igual a 0,10, em populações de 600 indivíduos, que apresentaram a seguinte estrutura: valores de razão sexual (d, de 10 e 50, tamanhos efetivos de população (Ne, de 36,36 e 7,84 e intensidade de seleção dos machos (i m, de 2,23 e 2,82. Em cada valor de d, formaram-se populações correspondentes ao tipo de acasalamento, em todas as gerações: acasalamentos preferenciais de meios-irmãos e irmãos completos, acasalamentos preferenciais entre meios-irmãos, acasalamentos ao acaso, exclusão de acasalamentos entre irmãos completos e exclusão de acasalamentos de meios-irmãos e irmãos completos. As características avaliadas ao longo das gerações foram: valores fenotípicos médios, consangüinidade média, perda percentual por fixação de alelos desfavoráveis e limite da seleção. Observou-se que o BLUP, o tipo de acasalamento, excluindo acasalamentos entre irmãos e a menor razão sexual, juntos, proporcionaram os melhores resultados de valores fenotípicos, durante 45 gerações de seleção. Nessa estratégia de seleção, verificou-se também atraso no número de gerações necessárias para se atingir determinado nível de consangüinidade.The performance of individual selection and of selection based on best linear unbiased prediction (BLUP for simulated data of a low heritability trait (h²=.10 selected for fifty generation in a population of 600 animals with different mating structures were evaluated. The mating structures evaluated were: mating ratio (d of 10 and 50, population size (Ne 36.36 and 7.84 and male selection intensity (i m of 2.23 and 2.82. For each d level half and full sib matings, half sib matings

  15. Improving genetic evaluation of litter size and piglet mortality for both genotyped and nongenotyped individuals using a single-step method.

    Science.gov (United States)

    Guo, X; Christensen, O F; Ostersen, T; Wang, Y; Lund, M S; Su, G

    2015-02-01

    A single-step method allows genetic evaluation using information of phenotypes, pedigree, and markers from genotyped and nongenotyped individuals simultaneously. This paper compared genomic predictions obtained from a single-step BLUP (SSBLUP) method, a genomic BLUP (GBLUP) method, a selection index blending (SELIND) method, and a traditional pedigree-based method (BLUP) for total number of piglets born (TNB), litter size at d 5 after birth (LS5), and mortality rate before d 5 (Mort; including stillbirth) in Danish Landrace and Yorkshire pigs. Data sets of 778,095 litters from 309,362 Landrace sows and 472,001 litters from 190,760 Yorkshire sows were used for the analysis. There were 332,795 Landrace and 207,255 Yorkshire animals in the pedigree data, among which 3,445 Landrace pigs (1,366 boars and 2,079 sows) and 3,372 Yorkshire pigs (1,241 boars and 2,131 sows) were genotyped with the Illumina PorcineSNP60 BeadChip. The results showed that the 3 methods with marker information (SSBLUP, GBLUP, and SELIND) produced more accurate predictions for genotyped animals than the pedigree-based method. For genotyped animals, the average of reliabilities for all traits in both breeds using traditional BLUP was 0.091, which increased to 0.171 w+hen using GBLUP and to 0.179 when using SELIND and further increased to 0.209 when using SSBLUP. Furthermore, the average reliability of EBV for nongenotyped animals was increased from 0.091 for traditional BLUP to 0.105 for the SSBLUP. The results indicate that the SSBLUP is a good approach to practical genomic prediction of litter size and piglet mortality in Danish Landrace and Yorkshire populations.

  16. Use of genomic recursions and algorithm for proven and young animals for single-step genomic BLUP analyses--a simulation study.

    Science.gov (United States)

    Fragomeni, B O; Lourenco, D A L; Tsuruta, S; Masuda, Y; Aguilar, I; Misztal, I

    2015-10-01

    The purpose of this study was to examine accuracy of genomic selection via single-step genomic BLUP (ssGBLUP) when the direct inverse of the genomic relationship matrix (G) is replaced by an approximation of G(-1) based on recursions for young genotyped animals conditioned on a subset of proven animals, termed algorithm for proven and young animals (APY). With the efficient implementation, this algorithm has a cubic cost with proven animals and linear with young animals. Ten duplicate data sets mimicking a dairy cattle population were simulated. In a first scenario, genomic information for 20k genotyped bulls, divided in 7k proven and 13k young bulls, was generated for each replicate. In a second scenario, 5k genotyped cows with phenotypes were included in the analysis as young animals. Accuracies (average for the 10 replicates) in regular EBV were 0.72 and 0.34 for proven and young animals, respectively. When genomic information was included, they increased to 0.75 and 0.50. No differences between genomic EBV (GEBV) obtained with the regular G(-1) and the approximated G(-1) via the recursive method were observed. In the second scenario, accuracies in GEBV (0.76, 0.51 and 0.59 for proven bulls, young males and young females, respectively) were also higher than those in EBV (0.72, 0.35 and 0.49). Again, no differences between GEBV with regular G(-1) and with recursions were observed. With the recursive algorithm, the number of iterations to achieve convergence was reduced from 227 to 206 in the first scenario and from 232 to 209 in the second scenario. Cows can be treated as young animals in APY without reducing the accuracy. The proposed algorithm can be implemented to reduce computing costs and to overcome current limitations on the number of genotyped animals in the ssGBLUP method. © 2015 Blackwell Verlag GmbH.

  17. Optimization of microwave-assisted drying of Jerusalem artichokes (Helianthus tuberosus L. by response surface methodology and genetic algorithm

    Directory of Open Access Journals (Sweden)

    E. KARACABEY

    2016-03-01

    Full Text Available The objective of the present study was to investigate microwave-assisted drying of Jerusalem artichoke tubers to determine the effects of the processing conditions. Drying time (DT and effectivemoisture diffusivity (EMD were determined to evaluate the drying process in terms of dehydration performance, whereas the rehydration ratio (RhR was considered as a significant quality index. A pretreatment of soaking in a NaCl solution was applied before all trials. The output power of the microwave oven, slice thickness and NaCl concentration of the pretreatment solution werethe three investigated parameters. The drying process was accelerated by altering the conditions while obtaining a higher quality product. For optimization of the drying process, response surface methodology (RSM and genetic algorithms (GA were used. Model adequacy was evaluated for each corresponding mathematical expression developed for interested responses by RSM. The residual of the model obtained by GA was compared to that of the RSM model. The GA was successful in high-performance prediction and produced results similar to those of RSM. The analysis and results of the present study show that both RSM and GA models can be used in cohesion to gain insight into the bioprocessing system.

  18. 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

  19. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

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

  20. 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...

  1. Genetic expression programming-based DBA for enhancing peer-assisted music-on-demand service in EPON

    Science.gov (United States)

    Liem, Andrew Tanny; Hwang, I.-Shyan; Nikoukar, AliAkbar; Lee, Jhong-Yue

    2015-03-01

    Today, the popularity of peer-assisted music-on-demand (MoD) has increased significantly worldwide. This service allows users to access large music library tracks, listen to music, and share their playlist with other users. Unlike the conventional voice traffic, such an application maintains music quality that ranges from 160 kbps to 320 kbps, which most likely consumes more bandwidth than other traffics. In the access network, Ethernet passive optical network (EPON) is one of the best candidates for delivering such a service because of being cost-effective and with high bandwidth. To maintain music quality, a stutter needs to be prevented because of either network effects or when the due user was not receiving enough resources to play in a timely manner. Therefore, in this paper, we propose two genetic expression programming (GEP)-based dynamic bandwidth allocations (DBAs). The first DBA is a generic DBA that aims to find an optimum formula for voice, video, and data services. The second DBA aims to find optimum formulas so that Optical Line Terminal (OLT) can satisfy not only the voice and Peer-to-Peer (P2P) MoD traffics but also reduce the stutter. Optical Network Unit (ONU) traits such as REPORT and GATE messages, cycle time, and mean packet delay are set to be predictor variables. Simulation results show that our proposed DBAs can satisfy the voice and P2P MoD services packet delay and monitor other overall system performances such as expedited forwarding (EF) jitter, packet loss, bandwidth waste, and system throughputs.

  2. Eficiência da seleção de progênies de café F4 pela metodologia de modelos mistos (REML/BLUP

    Directory of Open Access Journals (Sweden)

    Thamiris Bandoni Pereira

    2013-01-01

    Full Text Available Objetivou-se verificar a eficiência da seleção de cafeeiros em geração F4 para características agronômicas e resistência a doenças mediante o emprego da metodologia de modelos mistos de Henderson. O experimento foi instalado na Fazenda Experimental da EPAMIG, em Machado, MG, sendo utilizadas progênies F4 derivadas do cruzamento entre cultivares do grupo Icatu com Catuaí Amarelo IAC 62 e IAC 17 e com as progênies IAC 5002 e IAC 5010. O delineamento experimental utilizado foi o látice com quatro repetições e as avaliações foram realizadas ao longo de dois anos (2010 e 2011. Foram avaliadas as seguintes características: produção (litros planta-1, reação à ferrugem, vigor vegetativo e reação à cercosporiose. Foram utilizados o procedimento REML/BLUP para estimar os parâmetros genéticos, o índice de seleção de Mulamba e Mock a fim de verificar os ganhos para múltiplos caracteres, a acurácia e eficiência, calculadas a partir do diferente número de medições e, ainda, o agrupamento multivariado de progênies pelo método de Tocher. Verificou-se, a partir da análise dos parâmetros genéticos, um maior sucesso na seleção entre famílias para todas as características avaliadas. A adoção de quatro colheitas poderá elevar a acurácia a 80% na seleção de indivíduos para as características produção, reação à ferrugem e vigor vegetativo. A seleção das 12 melhores progênies para caracteres múltiplos pelo índice de Mulamba e Mock proporcionaria um ganho médio de 70,4%.

  3. A novel proton exchange membrane fuel cell based power conversion system for telecom supply with genetic algorithm assisted intelligent interfacing converter

    International Nuclear Information System (INIS)

    Kaur, Rajvir; Krishnasamy, Vijayakumar; Muthusamy, Kaleeswari; Chinnamuthan, Periasamy

    2017-01-01

    Highlights: • Proton exchange membrane fuel cell based telecom tower supply is proposed. • The use of diesel generator is eliminated and battery size is reduced. • Boost converter based intelligent interfacing unit is implemented. • The genetic algorithm assisted controller is proposed for effective interfacing. • The controller is robust against input and output disturbance rejection. - Abstract: This paper presents the fuel cell based simple electric energy conversion system for supplying the telecommunication towers to reduce the operation and maintenance cost of telecom companies. The telecom industry is at the boom and is penetrating deep into remote rural areas having unreliable or no grid supply. The telecom industry is getting heavily dependent on a diesel generator set and battery bank as a backup for continuously supplying a base transceiver station of telecom towers. This excessive usage of backup supply resulted in increased operational expenditure, the unreliability of power supply and had become a threat to the environment. A significant development and concern of clean energy sources, proton exchange membrane fuel cell based supply for base transceiver station is proposed with intelligent interfacing unit. The necessity of the battery bank capacity is significantly reduced as compared with the earlier solutions. Further, a simple closed loop and genetic algorithm assisted controller is proposed for intelligent interfacing unit which consists of power electronic boost converter for power conditioning. The proposed genetic algorithm assisted controller would ensure the tight voltage regulation at the DC distribution bus of the base transceiver station. Also, it will provide the robust performance of the base transceiver station under telecom load variation and proton exchange membrane fuel cell output voltage fluctuations. The complete electric energy conversion system along with telecom loads is simulated in MATLAB/Simulink platform and

  4. Marker-assisted selection as a tool for genetic improvement of crops, livestock, forestry and fish in developing countries: an overview of the issues

    International Nuclear Information System (INIS)

    Ruane, R.; Sonnino, A.

    2007-01-01

    This chapter provides an overview of the techniques, current status and issues involved in using marker-assisted selection (MAS) for genetic improvement in developing countries. Molecular marker maps, the necessary framework for any MAS programme, have been constructed for the majority of agriculturally important species, although the density of the maps varies considerably among species. Despite the considerable resources that have been invested in this field and despite the enormous potential it still represents, with few exceptions, MAS has not yet delivered its expected benefits in commercial breeding programmes for crops, livestock, forest trees or farmed fish in the developed world. When evaluating the potential merits of applying MAS as a tool for genetic improvement in developing countries, some of the issues that should be considered are its economic costs and benefits, its potential benefits compared with conventional breeding or with application of other biotechnologies, and the potential impact of intellectual property rights (IPRs) on the development and application of MAS. (author)

  5. Genetic Dissection of Maize Embryonic Callus Regenerative Capacity Using Multi-Locus Genome-Wide Association Studies

    Directory of Open Access Journals (Sweden)

    Langlang Ma

    2018-04-01

    Full Text Available The regenerative capacity of the embryonic callus, a complex quantitative trait, is one of the main limiting factors for maize transformation. This trait was decomposed into five traits, namely, green callus rate (GCR, callus differentiating rate (CDR, callus plantlet number (CPN, callus rooting rate (CRR, and callus browning rate (CBR. To dissect the genetic foundation of maize transformation, in this study multi-locus genome-wide association studies (GWAS for the five traits were performed in a population of 144 inbred lines genotyped with 43,427 SNPs. Using the phenotypic values in three environments and best linear unbiased prediction (BLUP values, as a result, a total of 127, 56, 160, and 130 significant quantitative trait nucleotides (QTNs were identified by mrMLM, FASTmrEMMA, ISIS EM-BLASSO, and pLARmEB, respectively. Of these QTNs, 63 QTNs were commonly detected, including 15 across multiple environments and 58 across multiple methods. Allele distribution analysis showed that the proportion of superior alleles for 36 QTNs was <50% in 31 elite inbred lines. Meanwhile, these superior alleles had obviously additive effect on the regenerative capacity. This indicates that the regenerative capacity-related traits can be improved by proper integration of the superior alleles using marker-assisted selection. Moreover, a total of 40 candidate genes were found based on these common QTNs. Some annotated genes were previously reported to relate with auxin transport, cell fate, seed germination, or embryo development, especially, GRMZM2G108933 (WOX2 was found to promote maize transgenic embryonic callus regeneration. These identified candidate genes will contribute to a further understanding of the genetic foundation of maize embryonic callus regeneration.

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

    Science.gov (United States)

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

    2016-06-01

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

  7. Estimates of genetic parameters and environmental effects for measures of hunting performance in Finnish hounds.

    Science.gov (United States)

    Liinamo, A E; Karjalainen, L; Ojala, M; Vilva, V

    1997-03-01

    Data from field trials of Finnish Hounds between 1988 and 1992 in Finland were used to estimate genetic parameters and environmental effects for measures of hunting performance using REML procedures and an animal model. The original data set included 28,791 field trial records from 5,666 dogs. Males and females had equal hunting performance, whereas experience acquired by age improved trial results compared with results for young dogs (P Hounds with respect to their hunting ability should be based on animal model BLUP methods instead of mere performance testing. The evaluation system of field trials should also be revised for more reliability.

  8. Genetic Gains in Yield and Yield Related Traits under Drought Stress and Favorable Environments in a Maize Population Improved Using Marker Assisted Recurrent Selection

    Directory of Open Access Journals (Sweden)

    Folusho Bankole

    2017-05-01

    Full Text Available The objective of marker assisted recurrent selection (MARS is to increase the frequency of favorable marker alleles in a population before inbred line extraction. This approach was used to improve drought tolerance and grain yield (GY in a biparental cross of two elite drought tolerant lines. The testcrosses of randomly selected 50 S1 lines from each of the three selection cycles (C0, C1, C2 of the MARS population, parental testcrosses and the cross between the two parents (F1 were evaluated under drought stress (DS and well watered (WW well as under rainfed conditions to determine genetic gains in GY and other agronomic traits. Also, the S1 lines derived from each selection types were genotyped with single nucleotide polymorphism (SNP markers. Testcrosses derived from C2 produced significantly higher grain field under DS than those derived from C0 with a relative genetic gain of 7% per cycle. Also, the testcrosses of S1 lines from C2 showed an average genetic gain of 1% per cycle under WW condition and 3% per cycle under rainfed condition. Molecular analysis revealed that the frequency of favorable marker alleles increased from 0.510 at C0 to 0.515 at C2, while the effective number of alleles (Ne per locus decreased from C0 (1.93 to C2 (1.87. Our results underscore the effectiveness of MARS for improvement of GY under DS condition.

  9. Optimization of welding parameters using a genetic algorithm: A robotic arm–assisted implementation for recovery of Pelton turbine blades

    Directory of Open Access Journals (Sweden)

    Luis Pérez Pozo

    2015-11-01

    Full Text Available This work presents the operational optimization of a welding operation involving using genetic algorithms. The welding curves correspond to the profile of a blade-shaped Pelton turbine. The procedure involved the development of a series of tests and observation of the parameters that will be controlled during the welding process. After the tests were performed, the samples were prepared for chemical attack, which allowed observation of the penetration, weld area, and dilution. After that, mathematical models were developed that correlate the controllable welding parameters with the aforementioned bead parameters. In those mathematical models, the optimization of the process parameters was performed using genetic algorithms. Specially programmed functions for mutation, reproduction, and initialization processes were written and used in the implemented model. After the optimization process was completed, the results were evaluated through new tests to verify whether the obtained objective functions properly describe the characteristics of the weld. The comparisons showed errors of less than 6%.

  10. Endogamia, fixação de alelos e limite de seleção em populações selecionadas por métodos tradicionais e associados a marcadores moleculares Inbreeding, alleles fixation and selection limit in populations under traditional or marker assisted selection methods

    Directory of Open Access Journals (Sweden)

    Paulo Luiz Souza Carneiro

    2007-04-01

    Full Text Available Objetivou-se avaliar o coeficiente de endogamia, a fixação de alelos e o limite de seleção em populações selecionadas durante 20 gerações. A seleção foi baseada nos valores genéticos preditos pelo BLUP clássico (BLUP e pelo BLUP marcadores (BLUPM e na seleção individual (SI utilizando diferentes sistemas de acasalamento. Para se obter a matriz de similaridade genética utilizada no BLUPM, foram simulados 100 marcadores moleculares do tipo microssatélite, por meio de um coeficiente de similaridade correspondente à distância euclidiana média para dados quantitativos. Para comparar os diferentes métodos de seleção, utilizaram-se populações com tamanho efetivo de 66,66 e média de 30 repetições. Observou-se maior incremento de endogamia para o BLUPM, seguido pelo BLUP e SI. Os métodos baseados no BLUP levaram a maior fixação de alelos favoráveis e desfavoráveis. O BLUPM foi o método que proporcionou maior redução no limite de seleção nas 20 gerações avaliadas. Os acasalamentos dos reprodutores selecionados que excluíram o acasalamento entre irmãos resultaram em menor taxa de incremento de endogamia, menores perdas pela fixação de alelos desfavoráveis e menor redução no limite da seleção.This study aimed to evaluate the inbreeding coefficient, alleles fixation and selection limit in a population selected during 20 generations. Selection was based on breeding values predicted by classical best linear unbiased prediction (BLUP, BLUP associated with molecular markers (BLUPM and individual selection (IS using different mating designs. The genetic similarity matrix used in BLUPM was obtained by simulating 100 micro satellite markers (simple sequence repeats using a similarity coefficient corresponding to the mean Euclidean distance between quantitative data. The selection methods were compared using populations with an effective size of 66.66 and a mean of 30 repetitions. The largest increase in inbreeding was

  11. Genetic mapping, marker assisted selection and allelic relationships for the Pu 6 gene conferring rust resistance in sunflower.

    Science.gov (United States)

    Bulos, Mariano; Vergani, Pablo Nicolas; Altieri, Emiliano

    2014-09-01

    Rust resistance in the sunflower line P386 is controlled by Pu 6 , a gene which was reported to segregate independently from other rust resistant genes, such as R 4 . The objectives of this work were to map Pu 6 , to provide and validate molecular tools for its identification, and to determine the linkage relationship of Pu 6 and R 4 . Genetic mapping of Pu 6 with six markers covered 24.8 cM of genetic distance on the lower end of linkage Group 13 of the sunflower consensus map. The marker most closely linked to Pu 6 was ORS316 at 2.5 cM in the distal position. ORS316 presented five alleles when was assayed with a representative set of resistant and susceptible lines. Allelism test between Pu 6 and R 4 indicated that both genes are linked at a genetic distance of 6.25 cM. This is the first confirmation based on an allelism test that at least two members of the R adv /R 4 /R 11 / R 13a /R 13b /Pu 6 cluster of genes are at different loci. A fine elucidation of the architecture of this complex locus will allow designing and constructing completely new genomic regions combining genes from different resistant sources and the elimination of the linkage drag around each resistant gene.

  12. Colorimetric detection of genetically modified organisms based on exonuclease III-assisted target recycling and hemin/G-quadruplex DNAzyme amplification.

    Science.gov (United States)

    Zhang, Decai; Wang, Weijia; Dong, Qian; Huang, Yunxiu; Wen, Dongmei; Mu, Yuejing; Yuan, Yong

    2017-12-21

    An isothermal colorimetric method is described for amplified detection of the CaMV 35S promoter sequence in genetically modified organism (GMO). It is based on (a) target DNA-triggered unlabeled molecular beacon (UMB) termini binding, and (b) exonuclease III (Exo III)-assisted target recycling, and (c) hemin/G-quadruplex (DNAzyme) based signal amplification. The specific binding of target to the G-quadruplex sequence-locked UMB triggers the digestion of Exo III. This, in turn, releases an active G-quadruplex segment and target DNA for successive hybridization and cleavage. The Exo III impellent recycling of targets produces numerous G-quadruplex sequences. These further associate with hemin to form DNAzymes and hence will catalyze H 2 O 2 -mediated oxidation of the chromogenic enzyme substrate ABTS 2- causing the formation of a green colored product. This finding enables a sensitive colorimetric determination of GMO DNA (at an analytical wavelength of 420 nm) at concentrations as low as 0.23 nM. By taking advantage of isothermal incubation, this method does not require sophisticated equipment or complicated syntheses. Analyses can be performed within 90 min. The method also discriminates single base mismatches. In our perception, it has a wide scope in that it may be applied to the detection of many other GMOs. Graphical abstract An isothermal and sensitive colorimetric method is described for amplified detection of CaMV 35S promoter sequence in genetically modified organism (GMO). It is based on target DNA-triggered molecular beacon (UMB) termini-binding and exonuclease III assisted target recycling, and on hemin/G-quadruplex (DNAzyme) signal amplification.

  13. A high-density SNP genetic linkage map for the silver-lipped pearl oyster, Pinctada maxima: a valuable resource for gene localisation and marker-assisted selection.

    Science.gov (United States)

    Jones, David B; Jerry, Dean R; Khatkar, Mehar S; Raadsma, Herman W; Zenger, Kyall R

    2013-11-20

    The silver-lipped pearl oyster, Pinctada maxima, is an important tropical aquaculture species extensively farmed for the highly sought "South Sea" pearls. Traditional breeding programs have been initiated for this species in order to select for improved pearl quality, but many economic traits under selection are complex, polygenic and confounded with environmental factors, limiting the accuracy of selection. The incorporation of a marker-assisted selection (MAS) breeding approach would greatly benefit pearl breeding programs by allowing the direct selection of genes responsible for pearl quality. However, before MAS can be incorporated, substantial genomic resources such as genetic linkage maps need to be generated. The construction of a high-density genetic linkage map for P. maxima is not only essential for unravelling the genomic architecture of complex pearl quality traits, but also provides indispensable information on the genome structure of pearl oysters. A total of 1,189 informative genome-wide single nucleotide polymorphisms (SNPs) were incorporated into linkage map construction. The final linkage map consisted of 887 SNPs in 14 linkage groups, spans a total genetic distance of 831.7 centimorgans (cM), and covers an estimated 96% of the P. maxima genome. Assessment of sex-specific recombination across all linkage groups revealed limited overall heterochiasmy between the sexes (i.e. 1.15:1 F/M map length ratio). However, there were pronounced localised differences throughout the linkage groups, whereby male recombination was suppressed near the centromeres compared to female recombination, but inflated towards telomeric regions. Mean values of LD for adjacent SNP pairs suggest that a higher density of markers will be required for powerful genome-wide association studies. Finally, numerous nacre biomineralization genes were localised providing novel positional information for these genes. This high-density SNP genetic map is the first comprehensive linkage

  14. [Assisted reproduction and artificial insemination and genetic manipulation in the Criminal Code of the Federal District, Mexico].

    Science.gov (United States)

    Brena Sesma, Ingrid

    2004-01-01

    The article that one presents has for purpose outline and comment on the recent modifications to the Penal Code for the Federal District of México which establish, for the first time, crimes related to the artificial procreation and to the genetic manipulation. Also one refers to the interaction of the new legal texts with the sanitary legislation of the country. Since it will be stated in some cases they present confrontations between the penal and the sanitary reglamentation and some points related to the legality or unlawfulness of a conduct that stayed without the enough development. These lacks will complicate the application of the new rules of the Penal Code of the Federal District.

  15. Genetic and biochemical characterization of rhizobacterial strains and their potential use in combination with chelants for assisted phytoremediation.

    Science.gov (United States)

    Cicatelli, Angela; Guarino, Francesco; Baldan, Enrico; Castiglione, Stefano

    2017-03-01

    Copper and zinc are essential micronutrients in plants but, at high concentrations, they are toxic. Assisted phytoremediation is an emerging "green" technology that aims to improve the efficiency of tolerant species to remove metals from soils through the use of chelants or microorganisms. Rhizobacteria can promote plant growth and tolerance and also affect the mobility, bioavailability, and complexation of metals. A pot experiment was conducted to evaluate the phytoremediation effectiveness of sunflowers cultivated in a Cu- and Zn-spiked soil, in the presence or absence of bacterial consortium and/or chelants. The consortium was constituted of two Stenotrophomonas maltophilia strains and one of Agrobacterium sp. These strains were previously isolated from the rhizosphere of maize plants cultivated on a metal-polluted soil and here molecularly and biochemically characterized. Results showed that the consortium improved sunflower growth and biomass production on the spiked soils. Sunflowers accumulated large amounts of metals in their roots and leaves; however, neither the bacterial consortium nor the chelants, singularly added to pots, influenced significantly Cu and Zn plant uptake. Furthermore, the consecutive soil amendment with the EDTA and bacterial consortium determined a consistent accumulation of metals in sunflowers, and it might be an alternative strategy to limit the use of EDTA and its associated environmental risks in phytoremediation.

  16. AVALIAÇÃO GENÉTICA DE INDIVÍDUOS DE ERVA-MATE (Ilex paraguariensis St. Hil. NA REGIÃO DE CAARAPÓ, MS, PELO PROCEDIMENTO REML/BLUP

    Directory of Open Access Journals (Sweden)

    Wagner José Martins

    2005-11-01

    Full Text Available O presente estudo objetivou estimar parâmetros e valores genéticos para os caracteres altura e diâmetro de indivíduos de erva-mate Ilex paraguariensis (St. Hil. pela metodologia de modelos mistos (procedimento REML/BLUP. As progênies de meios-irmãos foram plantadas na Reserva Indígena Kaiowá e Guarani, em Caarapó/MS, sob delineamento de blocos ao acaso, com seis tratamentos (progênies, seis repetições e vinte plantas por parcela. Aos 9 meses de idade, foram avaliados os caracteres: altura total das mudas e diâmetro do coleto. Ganhos genéticos preditos de 4,16% foram obtidos para o caráter altura e 7,20% para o caráter diâmetro, com a seleção dos dez melhores indivíduos. Embora os ganhos genéticos não sejam elevados para a idade avaliada, estimulam a utilização desses germoplasmas e a continuidade das avaliações em idades mais avançadas, explorando-se a variabilidade dentro das progênies.

  17. The morality of assisted reproduction and genetic manipulation A moralidade da reprodução assistida e da manipulação genética

    Directory of Open Access Journals (Sweden)

    Maurizio Mori

    1999-01-01

    Full Text Available The author analyzes the pros and cons of various forms of assisted reproduction, including the use of so-called 'genetic manipulation'. He shows how in ethics the only arguments with any chance of reaching a consensus (or at least an agreement are those of the rational type, based on universally acceptable ethical principles or corroborated by empirical facts and real life experience (as the starting point for identifying problems requiring analysis. After an analysis in which he identifies the incoherence and inconsistency of arguments against assisted reproduction, the author defends the right of human beings to decide autonomously about the most healthy forms of procreation, including those involving genetic manipulation. His starting point is the moral principle by which it is morally preferable to intervene in natural processes (as opposed to not intervening whenever this implies preventing and reducing disease and sufferingO autor se propõe a analisar os argumentos pró e contra as várias formas de reprodução assistida, inclusive aquela dependente da assim chamada manipulação genética. Mostra como os únicos argumentos com chance de chegar ao consenso, ou, pelo menos, a um acordo, sejam os argumentos racionais, embasados em princípios éticos (universalmente aceitáveis, ou corroborados por fatos empíricos e experiências de vida (como ponto de partida para identificar os problemas que requerem análise. Após uma parte desconstrutiva, na qual aponta a incoerência e a inconsistência dos argumentos contrários, o autor defende o direito dos humanos em decidir autonomamente acerca das formas mais saudáveis de procriação, inclusive aquelas que envolvem manipulações genéticas. Para tanto, baseia-se no princípio moral segundo o qual é moralmente preferível interferir nos processos naturais que não intervir quando isso implica prevenir e reduzir doenças e sofrimento.

  18. MODEL-ASSISTED ESTIMATION OF THE GENETIC VARIABILITY IN PHYSIOLOGICAL PARAMETERS RELATED TO TOMATO FRUIT GROWTH UNDER CONTRASTED WATER CONDITIONS

    Directory of Open Access Journals (Sweden)

    Dario Constantinescu

    2016-12-01

    Full Text Available Drought stress is a major abiotic stres threatening plant and crop productivity. In case of fleshy fruits, understanding Drought stress is a major abiotic stress threatening plant and crop productivity. In case of fleshy fruits, understanding mechanisms governing water and carbon accumulations and identifying genes, QTLs and phenotypes, that will enable trade-offs between fruit growth and quality under Water Deficit (WD condition is a crucial challenge for breeders and growers. In the present work, 117 recombinant inbred lines of a population of Solanum lycopersicum were phenotyped under control and WD conditions. Plant water status, fruit growth and composition were measured and data were used to calibrate a process-based model describing water and carbon fluxes in a growing fruit as a function of plant and environment. Eight genotype-dependent model parameters were estimated using a multiobjective evolutionary algorithm in order to minimize the prediction errors of fruit dry and fresh mass throughout fruit development. WD increased the fruit dry matter content (up to 85 % and decreased its fresh weight (up to 60 %, big fruit size genotypes being the most sensitive. The mean normalized root mean squared errors of the predictions ranged between 16-18 % in the population. Variability in model genotypic parameters allowed us to explore diverse genetic strategies in response to WD. An interesting group of genotypes could be discriminated in which i the low loss of fresh mass under WD was associated with high active uptake of sugars and low value of the maximum cell wall extensibility, and ii the high dry matter content in control treatment (C was associated with a slow decrease of mass flow. Using 501 SNP markers genotyped across the genome, a QTL analysis of model parameters allowed to detect three main QTLs related to xylem and phloem conductivities, on chromosomes 2, 4 and 8. The model was then applied to design ideotypes with high dry matter

  19. Characterisation of Triticum vavilovii-derived stripe rust resistance using genetic, cytogenetic and molecular analyses and its marker-assisted selection.

    Science.gov (United States)

    Bariana, H. S.; Brown, G. N.; Ahmed, N. U.; Khatkar, S.; Conner, R. L.; Wellings, C. R.; Haley, S.; Sharp, P. J.; Laroche, A.

    2002-02-01

    Stripe rust resistance was identified in Triticum vavilovii( T. vaviloviiAus22498)-derived Russian wheat aphid (RWA)-resistant germplasm. Inheritance studies indicated monogenic control of resistance. The resistance gene was tentatively designated as Yrvav and was located on chromosome 1B by monosomic analysis. A close association (1.5+/-0.9% recombination) of Yrvav with a T. vavilovii-derived gliadin allele ( Gli-B1vav) placed it in chromosome arm 1BS. Yrvavwas allelic with Yr10. Tests with Yr10 avirulent and virulent pathotypes showed that Yrvav and Yr10 possess identical pathogenic specificity. Yrvav and Yr10 showed close genetic associations with alternate alleles at the Xpsp3000(microsatellite marker), Gli-B1 and Rg1 loci. Based on these observations Yrvav was named as Yr10vav. The close association between Xpsp3000 and Gli-B1 was also confirmed. The Yr10vav-linked Xpsp3000 allele (285 bp) was not present in 65 Australian cultivars, whereas seven Australian wheats lacking Yr10 carried the same Xpsp3000 allele (260 bp) as Yr10carrying wheat cultivar Moro. Xpsp3000 and/or Gli-B1 could be used in marker-assisted selection for pyramiding Yr10vavor Yr10 with other stripe rust resistance genes. Yr10vav was inherited independently of the T. vavilovii-derived RWA resistance.

  20. Trace determination of safranin O dye using ultrasound assisted dispersive solid-phase micro extraction: Artificial neural network-genetic algorithm and response surface methodology.

    Science.gov (United States)

    Dil, Ebrahim Alipanahpour; Ghaedi, Mehrorang; Asfaram, Arash; Mehrabi, Fatemeh; Bazrafshan, Ali Akbar; Ghaedi, Abdol Mohammad

    2016-11-01

    In this study, ultrasound assisted dispersive solid-phase micro extraction combined with spectrophotometry (USA-DSPME-UV) method based on activated carbon modified with Fe2O3 nanoparticles (Fe2O3-NPs-AC) was developed for pre-concentration and determination of safranin O (SO). It is known that the efficiency of USA-DSPME-UV method may be affected by pH, amount of adsorbent, ultrasound time and eluent volume and the extent and magnitude of their contribution on response (in term of main and interaction part) was studied by using central composite design (CCD) and artificial neural network-genetic algorithms (ANN-GA). Accordingly by adjustment of experimental conditions suggested by ANN-GA at pH 6.5, 1.1mg of adsorbent, 10min ultrasound and 150μL of eluent volume led to achievement of best operation performance like low LOD (6.3ngmL(-1)) and LOQ (17.5ngmL(-1)) in the range of 25-3500ngmL(-1). In following stage, the SO content in real water and wastewater samples with recoveries between 93.27-99.41% with RSD lower than 3% was successfully determined. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. AVALIAÇÃO GENÉTICA DE PROGÊNIES DE MEIO-IRMÃOS DE Eucalyptus urophylla UTILIZANDO OS PROCEDIMENTOS REML/BLUP E E(QM

    Directory of Open Access Journals (Sweden)

    Maria das Graças de Barros Rocha

    2006-10-01

    Full Text Available Realizou-se avaliação genética em cinco testes de progênies de meio-irmãos de Eucalyptus urophylla S. T. Blake procedentes da Indonésia, com o uso dos procedimentos REML/BLUP (máxima verossimilhaça restrita/melhor predição linear não-viesada e pelo método dos quadrados mínimos E (QM. Os ensaios foram estabelecidos separadamente por procedência, sendo o delineamento experimental em blocos casualizados, com cinco repetições e parcelas lineares de seis plantas, no espaçamento 3,0 x 2,0 metros, em Guanhães, MG. Nos cinco testes avaliados aos 58 meses de idade, para a característica diâmetro à altura do peito (DAP, apresentaram valores dentro dos padrões da espécie, além de exibir variabilidade genética significativa, pelo teste F a 1% de probabilidade. Os coeficientes de variação genética aditiva apresentaram valores maiores no teste TP-71 originado de Wetar e no TP-68 originado de Alor, e nos outros testes apresentaram valores similares para a característica diâmetro à altura do peito (DAP. Os ganhos de seleção foram estimados na ordem de 12,8; 22,9; 9,5; 21,0 e 25,3% e tamanho efetivo populacional (Ne na ordem de 60,2; 58,0; 131,8; 167,9 e 224,1 para ao testes TP-67, TP-68, TP-69, TP-70 e TP-71 respectivamente. O ganho de seleção no Pomar de Sementes Clonal (PSC foi de 26,8 % com a seleção dos 21 indivíduos portadores dos maiores valores genéticos aditivos. Nos dois procedimentos, máxima verossimilhança restrita (REML e esperança de quadrados mínimos E(QM, os valores dos parâmetros genéticos foram semelhantes, exceto entre familias, em que o procedimento REML proporcionou valores mais elevados com acurácia superior a 70% em todas as populações, mostrando-se como ferramenta apropriada para esse fim.

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

    Directory of Open Access Journals (Sweden)

    Legault Christian

    2000-01-01

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

  3. [Recent findings on the genetics of gastro-intestinal nematode resistance in ruminants].

    Science.gov (United States)

    Carta, A; Scala, A

    2004-06-01

    The control of helminthiases in ruminants raised in open pasture has been mainly undertaken by using prophylactic measures in the environment, but these are often inadequate due to incorrect application. With the appearance of anthelmintics, the strategy for controlling these parasitoses, passed to pharmacological treatments which became effective in reducing their impact. However, the frequent and incorrect utilisation of these molecules resulted in resistance to anthelmintics and the presence of chemical residues in animal products for human consumption. Anthelmintic resistance is widespread throughout the world, heterogeneous and probably underestimated. This has encouraged the introduction of homeopathic agents and products derived from plants whose effectiveness has not been scientifically assessed. It is well known that it is possible to detect differences in resistance to the most important parasites between breeds. In Europe, it has been reported that some ovine autochthonous breeds, Scottish Blackface and Lacaune, showed higher resistance. The implementation of breeding strategies aimed at obtaining animals with naturally low susceptibility to nematode infestations could therefore play an increasingly important role. Standard animal breeding techniques have been largely successful in improving the performance of domestic animals in the last century. Standard quantitative selection requires field data on: i) individual phenotype performance; ii) expected covariance among animals due to blood relationship between them. The whole process of predicting the breeding value of animals in order to select subsequently the genetically superior parents of the next generation is entirely based on sophisticated computations (BLUP-animal model). In sheep, the main objective is always selecting for milk yield and sometimes, in addition, milk composition. However, due to the evolution of the EU agricultural policy and consumer demand in terms of healthy and organic food

  4. Genetic parameters of body weight and prolificacy in pigeons

    Directory of Open Access Journals (Sweden)

    Beaumont Catherine

    2000-07-01

    Full Text Available Abstract Genetic parameters of body weight at weaning and of prolificacy were estimated in three commercial lines of pigeons selected by BLUP (Best Linear Unbiased Prediction on both traits. The model of analysis took into account the direct genetic effects for both traits and the effect of parental permanent environment for body weight. Depending on the line considered, body weight varied from 556.7 g to 647.6 g and prolificacy ranged from 12.5 to 16.8 pigeons weaned per couple of parents per year. Heritability of body weight was high, varying between 0.46 and 0.60, and permanent environment was responsible for 6% to 9% of the total variability. On the contrary, prolificacy was poorly heritable (0.04 to 0.12. They were highly and negatively correlated (-0.77 to -0.82. Body weight showed significant genetic trends in lines B and C. No significant genetic difference could be observed between males and females for both traits.

  5. Effect of genetic architecture on the prediction accuracy of quantitative traits in samples of unrelated individuals.

    Science.gov (United States)

    Morgante, Fabio; Huang, Wen; Maltecca, Christian; Mackay, Trudy F C

    2018-06-01

    Predicting complex phenotypes from genomic data is a fundamental aim of animal and plant breeding, where we wish to predict genetic merits of selection candidates; and of human genetics, where we wish to predict disease risk. While genomic prediction models work well with populations of related individuals and high linkage disequilibrium (LD) (e.g., livestock), comparable models perform poorly for populations of unrelated individuals and low LD (e.g., humans). We hypothesized that low prediction accuracies in the latter situation may occur when the genetics architecture of the trait departs from the infinitesimal and additive architecture assumed by most prediction models. We used simulated data for 10,000 lines based on sequence data from a population of unrelated, inbred Drosophila melanogaster lines to evaluate this hypothesis. We show that, even in very simplified scenarios meant as a stress test of the commonly used Genomic Best Linear Unbiased Predictor (G-BLUP) method, using all common variants yields low prediction accuracy regardless of the trait genetic architecture. However, prediction accuracy increases when predictions are informed by the genetic architecture inferred from mapping the top variants affecting main effects and interactions in the training data, provided there is sufficient power for mapping. When the true genetic architecture is largely or partially due to epistatic interactions, the additive model may not perform well, while models that account explicitly for interactions generally increase prediction accuracy. Our results indicate that accounting for genetic architecture can improve prediction accuracy for quantitative traits.

  6. A Juridical Insight of Brave New World: The Eugenics Found on the Selection Criteria of Genetic Material for the Assisted Human Reproduction

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo de Oliveira Alban

    2016-06-01

    Full Text Available Following the teachings of the “Law in the Literature” movement, as well as the method of the Phemenological Hermeneutics, the present essay intends to discuss the eugenics content present in the abstract criteria for donating genetic material in Brazil. In order to present this problem clearly for the reader, the novel Brave New World, from Aldous Huxley, will be used as an example. Opportunely, it will deal with the recent situation regarding the investigation of the London Sperm Bank donators’ politics, in which important debates related to the genetic selection aiming for avoiding congenital diseases appear.

  7. Estimating additive and non-additive genetic variances and predicting genetic merits using genome-wide dense single nucleotide polymorphism markers.

    Directory of Open Access Journals (Sweden)

    Guosheng Su

    Full Text Available Non-additive genetic variation is usually ignored when genome-wide markers are used to study the genetic architecture and genomic prediction of complex traits in human, wild life, model organisms or farm animals. However, non-additive genetic effects may have an important contribution to total genetic variation of complex traits. This study presented a genomic BLUP model including additive and non-additive genetic effects, in which additive and non-additive genetic relation matrices were constructed from information of genome-wide dense single nucleotide polymorphism (SNP markers. In addition, this study for the first time proposed a method to construct dominance relationship matrix using SNP markers and demonstrated it in detail. The proposed model was implemented to investigate the amounts of additive genetic, dominance and epistatic variations, and assessed the accuracy and unbiasedness of genomic predictions for daily gain in pigs. In the analysis of daily gain, four linear models were used: 1 a simple additive genetic model (MA, 2 a model including both additive and additive by additive epistatic genetic effects (MAE, 3 a model including both additive and dominance genetic effects (MAD, and 4 a full model including all three genetic components (MAED. Estimates of narrow-sense heritability were 0.397, 0.373, 0.379 and 0.357 for models MA, MAE, MAD and MAED, respectively. Estimated dominance variance and additive by additive epistatic variance accounted for 5.6% and 9.5% of the total phenotypic variance, respectively. Based on model MAED, the estimate of broad-sense heritability was 0.506. Reliabilities of genomic predicted breeding values for the animals without performance records were 28.5%, 28.8%, 29.2% and 29.5% for models MA, MAE, MAD and MAED, respectively. In addition, models including non-additive genetic effects improved unbiasedness of genomic predictions.

  8. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  9. Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011–2012

    Science.gov (United States)

    Chang, Jeani; Boulet, Sheree L.; Jeng, Gary; Flowers, Lisa; Kissin, Dmitry M.

    2016-01-01

    Objective To assess the characteristics of IVF cycles for which preimplantation genetic diagnosis (PGD) was used and to evaluate indications for PGD and treatment outcomes associated with this procedure as compared with cycles without PGD with the data from the U.S. National ART Surveillance System. Design Retrospective cohort study. Setting None. Patient(s) Fresh autologous cycles that involved transfer of at least one embryo at blastocyst when available. Intervention(s) None. Main Outcome Measure(s) PGD indications and age-specific reproductive outcomes. Result(s) There were a total of 97,069 non-PGD cycles and 9,833 PGD cycles: 55.6% were performed for aneuploidy screening (PGD Aneuploidy), 29.1% for other reasons (PGD Other), and 15.3% for genetic testing (PGD Genetic). In comparison to non-PGD cycles, PGD Aneuploidy cycles showed a decreased odds of miscarriage among women 35–37 years (adjusted odds ratio [aOR] 0.62; 95% CI, 0.45–0.87) and women >37 years (aOR 0.55; 95% CI, 0.43–0.70); and an increased odds of clinical pregnancy (aOR 1.18; 95% CI, 1.05–1.34), live-birth delivery (aOR 1.43; 95% CI, 1.26–1.62), and multiple-birth delivery (aOR 1.98; 95% CI, 1.52–2.57) among women >37 years. Conclusion(s) Aneuploidy screening was the most common indication for PGD. Use of PGD was not observed to be associated with an increased odds of clinical pregnancy or live birth for women 35 years, but an increased odds of a live-birth and a multiple live-birth delivery among women >37 years. PMID:26551441

  10. Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011-2012.

    Science.gov (United States)

    Chang, Jeani; Boulet, Sheree L; Jeng, Gary; Flowers, Lisa; Kissin, Dmitry M

    2016-02-01

    To assess the characteristics of IVF cycles for which preimplantation genetic diagnosis (PGD) was used and to evaluate indications for PGD and treatment outcomes associated with this procedure as compared with cycles without PGD with the data from the U.S. National ART Surveillance System. Retrospective cohort study. None. Fresh autologous cycles that involved transfer of at least one embryo at blastocyst when available. None. PGD indications and age-specific reproductive outcomes. There were a total of 97,069 non-PGD cycles and 9,833 PGD cycles: 55.6% were performed for aneuploidy screening (PGD Aneuploidy), 29.1% for other reasons (PGD Other), and 15.3% for genetic testing (PGD Genetic). In comparison to non-PGD cycles, PGD Aneuploidy cycles showed a decreased odds of miscarriage among women 35-37 years (adjusted odds ratio [aOR] 0.62; 95% CI, 0.45-0.87) and women >37 years (aOR 0.55; 95% CI, 0.43-0.70); and an increased odds of clinical pregnancy (aOR 1.18; 95% CI, 1.05-1.34), live-birth delivery (aOR 1.43; 95% CI, 1.26-1.62), and multiple-birth delivery (aOR 1.98; 95% CI, 1.52-2.57) among women >37 years. Aneuploidy screening was the most common indication for PGD. Use of PGD was not observed to be associated with an increased odds of clinical pregnancy or live birth for women 35 years, but an increased odds of a live-birth and a multiple live-birth delivery among women >37 years. Published by Elsevier Inc.

  11. Correlation of the sperm penetration assay (SPA and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Gradistanac Jelena

    2011-01-01

    Full Text Available We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA before in vitro fertilization and intracytoplasmic sperm injection (ICSI, to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB. ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

  12. Assistive Technology

    Science.gov (United States)

    ... Page Resize Text Printer Friendly Online Chat Assistive Technology Assistive technology (AT) is any service or tool that helps ... be difficult or impossible. For older adults, such technology may be a walker to improve mobility or ...

  13. Genetic parameters and selection gains for Euterpe oleracea in juvenile phase

    Directory of Open Access Journals (Sweden)

    João Tomé de Farias Neto

    2012-09-01

    Full Text Available Genetics parameters and selection gains, obtained 36 months after planting, are presented and discussed for progenies of open pollinated population of açai palm for plant height (AP, plant diameter (DPC, number of live leaves ( NFV and tiller number (NP, based on the linear mixed model methodology (REML / BLUP. The thirty progenies were evaluated in a randomized blocks design with three replications and plots of five plants, spaced at 6m x 4m. The values obtained for individual heritability (0.55, 0.44, 0.38 and 0.43 and for progeny means (0.64, 0.54, 0.58 and 0.64 for AP, DPC, NFV and NP, respectively, were expressives, which indicates the possibility of genetic progress with the selection. The accuracy among the genetics values predicted and the true were of 0.802 for height, 0.736 for diameter, 0.760 for number of live leaves and 0.797 for tiller number. With the exception of NFV character, the coefficients of individual genetic variation were high (>10%, confirming the potential of the population for selection. Predicted genetic gains of 89.3% were obtained for the character AP and 2.1% for DCP, with the selection of the twenty top individuals. Correlation was found between height and diameter of the plant. Among ages, for the same characters, positive correlations of mean magnitudes were found.

  14. Genome-wide prediction of traits with different genetic architecture through efficient variable selection.

    Science.gov (United States)

    Wimmer, Valentin; Lehermeier, Christina; Albrecht, Theresa; Auinger, Hans-Jürgen; Wang, Yu; Schön, Chris-Carolin

    2013-10-01

    In genome-based prediction there is considerable uncertainty about the statistical model and method required to maximize prediction accuracy. For traits influenced by a small number of quantitative trait loci (QTL), predictions are expected to benefit from methods performing variable selection [e.g., BayesB or the least absolute shrinkage and selection operator (LASSO)] compared to methods distributing effects across the genome [ridge regression best linear unbiased prediction (RR-BLUP)]. We investigate the assumptions underlying successful variable selection by combining computer simulations with large-scale experimental data sets from rice (Oryza sativa L.), wheat (Triticum aestivum L.), and Arabidopsis thaliana (L.). We demonstrate that variable selection can be successful when the number of phenotyped individuals is much larger than the number of causal mutations contributing to the trait. We show that the sample size required for efficient variable selection increases dramatically with decreasing trait heritabilities and increasing extent of linkage disequilibrium (LD). We contrast and discuss contradictory results from simulation and experimental studies with respect to superiority of variable selection methods over RR-BLUP. Our results demonstrate that due to long-range LD, medium heritabilities, and small sample sizes, superiority of variable selection methods cannot be expected in plant breeding populations even for traits like FRIGIDA gene expression in Arabidopsis and flowering time in rice, assumed to be influenced by a few major QTL. We extend our conclusions to the analysis of whole-genome sequence data and infer upper bounds for the number of causal mutations which can be identified by LASSO. Our results have major impact on the choice of statistical method needed to make credible inferences about genetic architecture and prediction accuracy of complex traits.

  15. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

    Directory of Open Access Journals (Sweden)

    Moldovan Laura

    2010-10-01

    Full Text Available Abstract Background Computer-based teaching (CBT is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II. Aim To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. Implementation and Results The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca, was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. Conclusions The

  16. Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.

    Science.gov (United States)

    Al-Jasmi, Fatma; Moldovan, Laura; Clarke, Joe T R

    2010-10-25

    Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II). To develop interactive teaching software functioning as a virtual clinic for the management of MPS II. The Hunter disease eClinic, a self-training, user-friendly educational software program, available at the Lysosomal Storage Research Group (http://www.lysosomalstorageresearch.ca), was developed using the Adobe Flash multimedia platform. It was designed to function both to provide a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease. The Hunter disease eClinic consists of an eBook and an eClinic. The eClinic is the interactive virtual clinic component of the software. Within an environment resembling a real clinic, the trainee is instructed to perform a medical history, to examine the patient, and to order appropriate investigation. The program provides clinical data derived from the management of actual patients with Hunter disease. The eBook provides instantaneous, electronic access to a vast collection of reference information to provide detailed background clinical and basic science, including relevant biochemistry, physiology, and genetics. In the eClinic, the trainee is presented with quizzes designed to provide immediate feedback on both trainee effectiveness and efficiency. User feedback on the merits of the program was collected at several seminars and formal clinical rounds at several medical centres, primarily in Canada. In addition, online usage statistics were documented for a 2-year period. Feedback was consistently positive and confirmed the practical benefit of the program. The online English-language version is accessed daily by users from all over the world; a Japanese translation of the program is also available. The Hunter disease eClinic employs a CBT model providing the trainee with realistic

  17. Assisted Living

    Science.gov (United States)

    ... it, too. Back to top What is the Cost for Assisted Living? Although assisted living costs less than nursing home ... Primarily, older persons or their families pay the cost of assisted living. Some health and long-term care insurance policies ...

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

    Science.gov (United States)

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

    2016-10-01

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

  19. A genetic meta-algorithm-assisted inversion approach: hydrogeological study for the determination of volumetric rock properties and matrix and fluid parameters in unsaturated formations

    Science.gov (United States)

    Szabó, Norbert Péter

    2018-03-01

    An evolutionary inversion approach is suggested for the interpretation of nuclear and resistivity logs measured by direct-push tools in shallow unsaturated sediments. The efficiency of formation evaluation is improved by estimating simultaneously (1) the petrophysical properties that vary rapidly along a drill hole with depth and (2) the zone parameters that can be treated as constant, in one inversion procedure. In the workflow, the fractional volumes of water, air, matrix and clay are estimated in adjacent depths by linearized inversion, whereas the clay and matrix properties are updated using a float-encoded genetic meta-algorithm. The proposed inversion method provides an objective estimate of the zone parameters that appear in the tool response equations applied to solve the forward problem, which can significantly increase the reliability of the petrophysical model as opposed to setting these parameters arbitrarily. The global optimization meta-algorithm not only assures the best fit between the measured and calculated data but also gives a reliable solution, practically independent of the initial model, as laboratory data are unnecessary in the inversion procedure. The feasibility test uses engineering geophysical sounding logs observed in an unsaturated loessy-sandy formation in Hungary. The multi-borehole extension of the inversion technique is developed to determine the petrophysical properties and their estimation errors along a profile of drill holes. The genetic meta-algorithmic inversion method is recommended for hydrogeophysical logging applications of various kinds to automatically extract the volumetric ratios of rock and fluid constituents as well as the most important zone parameters in a reliable inversion procedure.

  20. Long-term response to genomic selection: effects of estimation method and reference population structure for different genetic architectures.

    Science.gov (United States)

    Bastiaansen, John W M; Coster, Albart; Calus, Mario P L; van Arendonk, Johan A M; Bovenhuis, Henk

    2012-01-24

    Genomic selection has become an important tool in the genetic improvement of animals and plants. The objective of this study was to investigate the impacts of breeding value estimation method, reference population structure, and trait genetic architecture, on long-term response to genomic selection without updating marker effects. Three methods were used to estimate genomic breeding values: a BLUP method with relationships estimated from genome-wide markers (GBLUP), a Bayesian method, and a partial least squares regression method (PLSR). A shallow (individuals from one generation) or deep reference population (individuals from five generations) was used with each method. The effects of the different selection approaches were compared under four different genetic architectures for the trait under selection. Selection was based on one of the three genomic breeding values, on pedigree BLUP breeding values, or performed at random. Selection continued for ten generations. Differences in long-term selection response were small. For a genetic architecture with a very small number of three to four quantitative trait loci (QTL), the Bayesian method achieved a response that was 0.05 to 0.1 genetic standard deviation higher than other methods in generation 10. For genetic architectures with approximately 30 to 300 QTL, PLSR (shallow reference) or GBLUP (deep reference) had an average advantage of 0.2 genetic standard deviation over the Bayesian method in generation 10. GBLUP resulted in 0.6% and 0.9% less inbreeding than PLSR and BM and on average a one third smaller reduction of genetic variance. Responses in early generations were greater with the shallow reference population while long-term response was not affected by reference population structure. The ranking of estimation methods was different with than without selection. Under selection, applying GBLUP led to lower inbreeding and a smaller reduction of genetic variance while a similar response to selection was

  1. In situ genetic association for serotiny, a fire-related trait, in Mediterranean maritime pine (Pinus pinaster).

    Science.gov (United States)

    Budde, Katharina B; Heuertz, Myriam; Hernández-Serrano, Ana; Pausas, Juli G; Vendramin, Giovanni G; Verdú, Miguel; González-Martínez, Santiago C

    2014-01-01

    Wildfire is a major ecological driver of plant evolution. Understanding the genetic basis of plant adaptation to wildfire is crucial, because impending climate change will involve fire regime changes worldwide. We studied the molecular genetic basis of serotiny, a fire-related trait, in Mediterranean maritime pine using association genetics. A single nucleotide polymorphism (SNP) set was used to identify genotype : phenotype associations in situ in an unstructured natural population of maritime pine (eastern Iberian Peninsula) under a mixed-effects model framework. RR-BLUP was used to build predictive models for serotiny in this region. Model prediction power outside the focal region was tested using independent range-wide serotiny data. Seventeen SNPs were potentially associated with serotiny, explaining approximately 29% of the trait phenotypic variation in the eastern Iberian Peninsula. Similar prediction power was found for nearby geographical regions from the same maternal lineage, but not for other genetic lineages. Association genetics for ecologically relevant traits evaluated in situ is an attractive approach for forest trees provided that traits are under strong genetic control and populations are unstructured, with large phenotypic variability. This will help to extend the research focus to ecological keystone non-model species in their natural environments, where polymorphisms acquired their adaptive value. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

  2. Molecular-genetic aspects of the endometrium state on the day of the tentative implantation window in women with recurrent miscarriage in the programs of assisted reproductive technologies

    Directory of Open Access Journals (Sweden)

    K. P. Golovatyuk

    2017-09-01

    Full Text Available More than 50% of pregnant women after the programs of assisted reproductive technologies (ART face the problem of recurrent miscarriage (RMC, especially in the first trimester. Significant role in the development of RMC has infectious factor and chronic inflammation in the endometrium. The aim: to reveal the peculiarities of immune response mRNA genes of the inflammatory component expression in the period of the tentative implantation window (TIW in women with RMC in ART programs. Material and methods. The main group consisted of 240 patients with RMC in ART programs; the control group included 100 conditionally healthy fertile women. On the ground of PCR reverse transcription, the mRNA of the IL-1β, IL-2, IL-10, Foxp3, TLR9, IL-2Rα cytokine genes was examined in endometrial samples obtained with the help of  biopsy on the TIW day. Results. Analysis of the transcriptional profile of the immune response genes in the endometrium on TIW day revealed that the relative level of mRNA expression of the IL-1β, IL-2, Foxp3, TLR9, IL-2Rα genes did not differ significantly in the main and control groups. Statistically significant decrease in mRNA expression of IL-10 gene was observed in women with RPL. Conclusions. A feature of mRNA expression of the inflammatory component of the immune response in TIW period in women with RMC in ART programs is a decrease in the expression level of the IL-10 gene mRNA, which may be one of the reasons for the unfavorable outcomes of the onset  pregnancy.

  3. An ultrasound-assisted system for the optimization of biodiesel production from chicken fat oil using a genetic algorithm and response surface methodology.

    Science.gov (United States)

    Fayyazi, E; Ghobadian, B; Najafi, G; Hosseinzadeh, B; Mamat, R; Hosseinzadeh, J

    2015-09-01

    Biodiesel is a green (clean), renewable energy source and is an alternative for diesel fuel. Biodiesel can be produced from vegetable oil, animal fat and waste cooking oil or fat. Fats and oils react with alcohol to produce methyl ester, which is generally known as biodiesel. Because vegetable oil and animal fat wastes are cheaper, the tendency to produce biodiesel from these materials is increasing. In this research, the effect of some parameters such as the alcohol-to-oil molar ratio (4:1, 6:1, 8:1), the catalyst concentration (0.75%, 1% and 1.25% w/w) and the time for the transesterification reaction using ultrasonication on the rate of the fatty acids-to-methyl ester (biodiesel) conversion percentage have been studied (3, 6 and 9 min). In biodiesel production from chicken fat, when increasing the catalyst concentration up to 1%, the oil-to-biodiesel conversion percentage was first increased and then decreased. Upon increasing the molar ratio from 4:1 to 6:1 and then to 8:1, the oil-to-biodiesel conversion percentage increased by 21.9% and then 22.8%, respectively. The optimal point is determined by response surface methodology (RSM) and genetic algorithms (GAs). The biodiesel production from chicken fat by ultrasonic waves with a 1% w/w catalyst percentage, 7:1 alcohol-to-oil molar ratio and 9 min reaction time was equal to 94.8%. For biodiesel that was produced by ultrasonic waves under a similar conversion percentage condition compared to the conventional method, the reaction time was decreased by approximately 87.5%. The time reduction for the ultrasonic method compared to the conventional method makes the ultrasonic method superior. Copyright © 2015. Published by Elsevier B.V.

  4. Effectiveness of in vitro fertilization with preimplantation genetic screening: a reanalysis of United States assisted reproductive technology data 2011-2012.

    Science.gov (United States)

    Kushnir, Vitaly A; Darmon, Sarah K; Albertini, David F; Barad, David H; Gleicher, Norbert

    2016-07-01

    To assess effectiveness of preimplantation genetic screening (PGS) in fresh IVF cycles. Reanalysis of retrospective US national data. Not applicable. A total of 5,471 fresh autologous IVF cycles with PGS and 97,069 cycles without PGS, reported in 2011-2012 to the Centers for Disease Control and Prevention. Not applicable. Cycles that reached ET, miscarriage rates, live birth rates per cycle and per transfer. More PGS than non-PGS cycles reached ET (64.2% vs. 62.3%), suggesting favorable patient selection bias for patients using PGS. Nevertheless, live births rates per cycle start (25.2% vs. 28.8%) and per ET (39.3% vs. 46.2%) were significantly better in non-PGS cycles, whereas miscarriage rates were similar (13.7% vs. 13.9%). With a maternal age >37 years significantly more cycles in the PGS group reached ET (53.1% vs. 41.9%), suggesting a significant selection bias for more favorable patients in the PGS population. This bias rather than the PGS procedure may partially explain the observed improved live birth rate per cycle (17.7% vs. 12.7%) and lower miscarriage rate (16.8% vs. 26.0%) in the older PGS group. Overall, PGS decreased chances of live birth in association with IVF. National improvements in live birth and miscarriage rates reported with PGS in older women are likely the consequence of favorable patient selection biases. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Prioritizing stream types according to their potential risk to receive crop plant material--A GIS-based procedure to assist in the risk assessment of genetically modified crops and systemic insecticide residues.

    Science.gov (United States)

    Bundschuh, Rebecca; Kuhn, Ulrike; Bundschuh, Mirco; Naegele, Caroline; Elsaesser, David; Schlechtriemen, Ulrich; Oehen, Bernadette; Hilbeck, Angelika; Otto, Mathias; Schulz, Ralf; Hofmann, Frieder

    2016-03-15

    Crop plant residues may enter aquatic ecosystems via wind deposition or surface runoff. In the case of genetically modified crops or crops treated with systemic pesticides, these materials may contain insecticidal Bt toxins or pesticides that potentially affect aquatic life. However, the particular exposure pattern of aquatic ecosystems (i.e., via plant material) is not properly reflected in current risk assessment schemes, which primarily focus on waterborne toxicity and not on plant material as the route of uptake. To assist in risk assessment, the present study proposes a prioritization procedure of stream types based on the freshwater network and crop-specific cultivation data using maize in Germany as a model system. To identify stream types with a high probability of receiving crop materials, we developed a formalized, criteria-based and thus transparent procedure that considers the exposure-related parameters, ecological status--an estimate of the diversity and potential vulnerability of local communities towards anthropogenic stress--and availability of uncontaminated reference sections. By applying the procedure to maize, ten stream types out of 38 are expected to be the most relevant if the ecological effects from plant-incorporated pesticides need to be evaluated. This information is an important first step to identifying habitats within these stream types with a high probability of receiving crop plant material at a more local scale, including accumulation areas. Moreover, the prioritization procedure developed in the present study may support the selection of aquatic species for ecotoxicological testing based on their probability of occurrence in stream types having a higher chance of exposure. Finally, this procedure can be adapted to any geographical region or crop of interest and is, therefore, a valuable tool for a site-specific risk assessment of crop plants carrying systemic pesticides or novel proteins, such as insecticidal Bt toxins, expressed

  6. Genetic Gains in Grain Yield of a Maize Population Improved through Marker Assisted Recurrent Selection under Stress and Non-stress Conditions in West Africa

    Directory of Open Access Journals (Sweden)

    Rekiya O. Abdulmalik

    2017-05-01

    Full Text Available Marker-assisted recurrent selection (MARS is a breeding method used to accumulate favorable alleles that for example confer tolerance to drought in inbred lines from several genomic regions within a single population. A bi-parental cross formed from two parents that combine resistance to Striga hermonthica with drought tolerance, which was improved through MARS, was used to assess changes in the frequency of favorable alleles and its impact on inbred line improvement. A total of 200 testcrosses of randomly selected S1 lines derived from the original (C0 and advanced selection cycles of this bi-parental population, were evaluated under drought stress (DS and well-watered (WW conditions at Ikenne and under artificial Striga infestation at Abuja and Mokwa in Nigeria in 2014 and 2015. Also, 60 randomly selected S1 lines each derived from the four cycles (C0, C1, C2, C3 were genotyped with 233 SNP markers using KASP assay. The results showed that the frequency of favorable alleles increased with MARS in the bi-parental population with none of the markers showing fixation. The gain in grain yield was not significant under DS condition due to the combined effect of DS and armyworm infestation in 2015. Because the parents used for developing the bi-parental cross combined tolerance to drought with resistance to Striga, improvement in grain yield under DS did not result in undesirable changes in resistance to the parasite in the bi-parental maize population improved through MARS. MARS increased the mean number of combinations of favorable alleles in S1 lines from 114 in C0 to 124 in C3. The level of heterozygosity decreased by 15%, while homozygosity increased by 13% due to the loss of some genotypes in the population. This study demonstrated the effectiveness of MARS in increasing the frequency of favorable alleles for tolerance to drought without disrupting the level of resistance to Striga in a bi-parental population targeted as a source of improved

  7. Genetic Gains in Grain Yield of a Maize Population Improved through Marker Assisted Recurrent Selection under Stress and Non-stress Conditions in West Africa.

    Science.gov (United States)

    Abdulmalik, Rekiya O; Menkir, Abebe; Meseka, Silvestro K; Unachukwu, Nnanna; Ado, Shehu G; Olarewaju, Joseph D; Aba, Daniel A; Hearne, Sarah; Crossa, Jose; Gedil, Melaku

    2017-01-01

    Marker-assisted recurrent selection (MARS) is a breeding method used to accumulate favorable alleles that for example confer tolerance to drought in inbred lines from several genomic regions within a single population. A bi-parental cross formed from two parents that combine resistance to Striga hermonthica with drought tolerance, which was improved through MARS, was used to assess changes in the frequency of favorable alleles and its impact on inbred line improvement. A total of 200 testcrosses of randomly selected S 1 lines derived from the original (C 0 ) and advanced selection cycles of this bi-parental population, were evaluated under drought stress (DS) and well-watered (WW) conditions at Ikenne and under artificial Striga infestation at Abuja and Mokwa in Nigeria in 2014 and 2015. Also, 60 randomly selected S 1 lines each derived from the four cycles (C 0 , C 1 , C 2 , C 3 ) were genotyped with 233 SNP markers using KASP assay. The results showed that the frequency of favorable alleles increased with MARS in the bi-parental population with none of the markers showing fixation. The gain in grain yield was not significant under DS condition due to the combined effect of DS and armyworm infestation in 2015. Because the parents used for developing the bi-parental cross combined tolerance to drought with resistance to Striga , improvement in grain yield under DS did not result in undesirable changes in resistance to the parasite in the bi-parental maize population improved through MARS. MARS increased the mean number of combinations of favorable alleles in S 1 lines from 114 in C 0 to 124 in C 3 . The level of heterozygosity decreased by 15%, while homozygosity increased by 13% due to the loss of some genotypes in the population. This study demonstrated the effectiveness of MARS in increasing the frequency of favorable alleles for tolerance to drought without disrupting the level of resistance to Striga in a bi-parental population targeted as a source of improved

  8. Comparison, artificial neural network modeling and genetic algorithm optimization of the resinoid and potassium yields from white lady’s bedstraw (Galium mollugo L. by conventional, reflux and ultrasound-assisted aqueous-ethanolic extraction

    Directory of Open Access Journals (Sweden)

    Milić Petar S.

    2013-01-01

    Full Text Available In this work, the yields of resinoid and potassium obtained from aerial parts of white lady’s bedstraw (Galium mollugo L. by maceration, reflux extraction and ultrasound-assisted extraction using aqueous ethanol solutions as solvents. The main goal was to define the influence of the extraction technique and the ethanol concentration on the resinoid and potassium yields. The resinoid and potassium yields were determined by the solvent evaporation from the liquid extracts to constant weight and the AAS emission method, respectively. The dependence of resinoid and potassium yields on the ethanol concentration was described by linear and quadratic polynomial models, respectively. The best potassium extraction selectivity of 0.077 g K/g of dry extract was achieved by maceration at the ethanol concentrations of 10 g/100 g. The artificial neural network (ANN was successfully applied to estimate the resinoid and potassium yields based on the ethanol concentration in the extracting solvent and the time duration for all three extraction techniques employed. The response surface methodology was also used to present the dependence of ANN results on the operating factors. The extraction process was optimized using the ANN model coupled with genetic algorithm. The maximum predicted resinoid and potassium yields of 30.4 and 1.67 g/100 g of dry plant were obtained by the ultrasonic extraction (80 min using the 10 g/100 g aqueous ethanol solution.

  9. Genetic, phenotypic and matrix-assisted laser desorption ionization time-of-flight mass spectrometry-based identification of anaerobic bacteria and determination of their antimicrobial susceptibility at a University Hospital in Japan.

    Science.gov (United States)

    Yunoki, Tomoyuki; Matsumura, Yasufumi; Nakano, Satoshi; Kato, Karin; Hotta, Go; Noguchi, Taro; Yamamoto, Masaki; Nagao, Miki; Takakura, Shunji; Ichiyama, Satoshi

    2016-05-01

    The accuracies of matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) and the phenotypic method using VITEK 2 were compared to the accuracy of 16S rRNA sequence analysis for the identification of 170 clinically isolated anaerobes. The antimicrobial susceptibility of the isolates was also evaluated. Genetic analysis identified 21 Gram-positive species in 14 genera and 29 Gram-negative species in 11 genera. The most frequently isolated genera were Prevotella spp. (n = 46), Bacteroides spp. (n = 25) and Clostridium spp. (n = 25). MALDI-TOF MS correctly identified more isolates compared with VITEK 2 at the species (80 vs. 58%, respectively; p anaerobic agents indicated that the isolates of the three most frequently identified anaerobic genera exhibited good antimicrobial susceptibility. Copyright © 2016 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  10. International assistance. Licensing assistance project

    International Nuclear Information System (INIS)

    Aleev, A.

    1999-01-01

    Description of licensing assistance project for VATESI is presented. In licensing of unit No.1 of INPP VATESI is supported by many western countries. Experts from regulatory bodies or scientific organizations of those countries assist VATESI staff in reviewing documentation presented by INPP. Among bilateral cooperation support is provided by European Commission through Phare programme

  11. Genetic parameters and simultaneous selection for root yield, adaptability and stability of cassava genotypes

    Directory of Open Access Journals (Sweden)

    João Tomé de Farias Neto

    2013-12-01

    Full Text Available The objective of this work was to estimate genetic parameters and to evaluate simultaneous selection for root yield and for adaptability and stability of cassava genotypes. The effects of genotypes were assumed as fixed and random, and the mixed model methodology (REML/Blup was used to estimate genetic parameters and the harmonic mean of the relative performance of genotypic values (HMRPGV, for simultaneous selection purposes. Ten genotypes were analyzed in a complete randomized block design, with four replicates. The experiment was carried out in the municipalities of Altamira, Santarém, and Santa Luzia do Pará in the state of Pará, Brazil, in the growing seasons of 2009/2010, 2010/2011, and 2011/2012. Roots were harvested 12 months after planting, in all tested locations. Root yield had low coefficients of genotypic variation (4.25% and broad-sense heritability of individual plots (0.0424, which resulted in low genetic gain. Due to the low genotypic correlation (0.15, genotype classification as to root yield varied according to the environment. Genotypes CPATU 060, CPATU 229, and CPATU 404 stood out as to their yield, adaptability, and stability.

  12. Genetic divergence among cupuaçu accessions by multiscale bootstrap resampling

    Directory of Open Access Journals (Sweden)

    Vinicius Silva dos Santos

    2015-06-01

    Full Text Available This study aimed at investigating the genetic divergence of eighteen accessions of cupuaçu trees based on fruit morphometric traits and comparing usual methods of cluster analysis with the proposed multiscale bootstrap resampling methodology. The data were obtained from an experiment conducted in Tomé-Açu city (PA, Brazil, arranged in a completely randomized design with eighteen cupuaçu accessions and 10 repetitions, from 2004 to 2011. Genetic parameters were estimated by restricted maximum likelihood/best linear unbiased prediction (REML/BLUP methodology. The predicted breeding values were used in the study on genetic divergence through Unweighted Pair Cluster Method with Arithmetic Mean (UPGMA hierarchical clustering and Tocher’s optimization method based on standardized Euclidean distance. Clustering consistency and optimal number of clusters in the UPGMA method were verified by the cophenetic correlation coefficient (CCC and Mojena’s criterion, respectively, besides the multiscale bootstrap resampling technique. The use of the clustering UPGMA method in situations with and without multiscale bootstrap resulted in four and five clusters, respectively, while the Tocher’s method resulted in seven clusters. The multiscale bootstrap resampling technique proves to be efficient to assess the consistency of clustering in hierarchical methods and, consequently, the optimal number of clusters.

  13. Breeding and Genetics Symposium: really big data: processing and analysis of very large data sets.

    Science.gov (United States)

    Cole, J B; Newman, S; Foertter, F; Aguilar, I; Coffey, M

    2012-03-01

    Modern animal breeding data sets are large and getting larger, due in part to recent availability of high-density SNP arrays and cheap sequencing technology. High-performance computing methods for efficient data warehousing and analysis are under development. Financial and security considerations are important when using shared clusters. Sound software engineering practices are needed, and it is better to use existing solutions when possible. Storage requirements for genotypes are modest, although full-sequence data will require greater storage capacity. Storage requirements for intermediate and results files for genetic evaluations are much greater, particularly when multiple runs must be stored for research and validation studies. The greatest gains in accuracy from genomic selection have been realized for traits of low heritability, and there is increasing interest in new health and management traits. The collection of sufficient phenotypes to produce accurate evaluations may take many years, and high-reliability proofs for older bulls are needed to estimate marker effects. Data mining algorithms applied to large data sets may help identify unexpected relationships in the data, and improved visualization tools will provide insights. Genomic selection using large data requires a lot of computing power, particularly when large fractions of the population are genotyped. Theoretical improvements have made possible the inversion of large numerator relationship matrices, permitted the solving of large systems of equations, and produced fast algorithms for variance component estimation. Recent work shows that single-step approaches combining BLUP with a genomic relationship (G) matrix have similar computational requirements to traditional BLUP, and the limiting factor is the construction and inversion of G for many genotypes. A naïve algorithm for creating G for 14,000 individuals required almost 24 h to run, but custom libraries and parallel computing reduced that to

  14. Application of Genetic Algorithm (GA) Assisted Partial Least Square (PLS) Analysis on Trilinear and Non-trilinear Fluorescence Data Sets to Quantify the Fluorophores in Multifluorophoric Mixtures: Improving Quantification Accuracy of Fluorimetric Estimations of Dilute Aqueous Mixtures.

    Science.gov (United States)

    Kumar, Keshav

    2018-03-29

    Excitation-emission matrix fluorescence (EEMF) and total synchronous fluorescence spectroscopy (TSFS) are the 2 fluorescence techniques that are commonly used for the analysis of multifluorophoric mixtures. These 2 fluorescence techniques are conceptually different and provide certain advantages over each other. The manual analysis of such highly correlated large volume of EEMF and TSFS towards developing a calibration model is difficult. Partial least square (PLS) analysis can analyze the large volume of EEMF and TSFS data sets by finding important factors that maximize the correlation between the spectral and concentration information for each fluorophore. However, often the application of PLS analysis on entire data sets does not provide a robust calibration model and requires application of suitable pre-processing step. The present work evaluates the application of genetic algorithm (GA) analysis prior to PLS analysis on EEMF and TSFS data sets towards improving the precision and accuracy of the calibration model. The GA algorithm essentially combines the advantages provided by stochastic methods with those provided by deterministic approaches and can find the set of EEMF and TSFS variables that perfectly correlate well with the concentration of each of the fluorophores present in the multifluorophoric mixtures. The utility of the GA assisted PLS analysis is successfully validated using (i) EEMF data sets acquired for dilute aqueous mixture of four biomolecules and (ii) TSFS data sets acquired for dilute aqueous mixtures of four carcinogenic polycyclic aromatic hydrocarbons (PAHs) mixtures. In the present work, it is shown that by using the GA it is possible to significantly improve the accuracy and precision of the PLS calibration model developed for both EEMF and TSFS data set. Hence, GA must be considered as a useful pre-processing technique while developing an EEMF and TSFS calibration model.

  15. Persistency of Prediction Accuracy and Genetic Gain in Synthetic Populations Under Recurrent Genomic Selection.

    Science.gov (United States)

    Müller, Dominik; Schopp, Pascal; Melchinger, Albrecht E

    2017-03-10

    Recurrent selection (RS) has been used in plant breeding to successively improve synthetic and other multiparental populations. Synthetics are generated from a limited number of parents [Formula: see text] but little is known about how [Formula: see text] affects genomic selection (GS) in RS, especially the persistency of prediction accuracy ([Formula: see text]) and genetic gain. Synthetics were simulated by intermating [Formula: see text]= 2-32 parent lines from an ancestral population with short- or long-range linkage disequilibrium ([Formula: see text]) and subjected to multiple cycles of GS. We determined [Formula: see text] and genetic gain across 30 cycles for different training set ( TS ) sizes, marker densities, and generations of recombination before model training. Contributions to [Formula: see text] and genetic gain from pedigree relationships, as well as from cosegregation and [Formula: see text] between QTL and markers, were analyzed via four scenarios differing in (i) the relatedness between TS and selection candidates and (ii) whether selection was based on markers or pedigree records. Persistency of [Formula: see text] was high for small [Formula: see text] where predominantly cosegregation contributed to [Formula: see text], but also for large [Formula: see text] where [Formula: see text] replaced cosegregation as the dominant information source. Together with increasing genetic variance, this compensation resulted in relatively constant long- and short-term genetic gain for increasing [Formula: see text] > 4, given long-range LD A in the ancestral population. Although our scenarios suggest that information from pedigree relationships contributed to [Formula: see text] for only very few generations in GS, we expect a longer contribution than in pedigree BLUP, because capturing Mendelian sampling by markers reduces selective pressure on pedigree relationships. Larger TS size ([Formula: see text]) and higher marker density improved persistency of

  16. Persistency of Prediction Accuracy and Genetic Gain in Synthetic Populations Under Recurrent Genomic Selection

    Directory of Open Access Journals (Sweden)

    Dominik Müller

    2017-03-01

    Full Text Available Recurrent selection (RS has been used in plant breeding to successively improve synthetic and other multiparental populations. Synthetics are generated from a limited number of parents ( Np , but little is known about how Np affects genomic selection (GS in RS, especially the persistency of prediction accuracy (rg , g ^ and genetic gain. Synthetics were simulated by intermating Np= 2–32 parent lines from an ancestral population with short- or long-range linkage disequilibrium (LDA and subjected to multiple cycles of GS. We determined rg , g ^ and genetic gain across 30 cycles for different training set (TS sizes, marker densities, and generations of recombination before model training. Contributions to rg , g ^ and genetic gain from pedigree relationships, as well as from cosegregation and LDA between QTL and markers, were analyzed via four scenarios differing in (i the relatedness between TS and selection candidates and (ii whether selection was based on markers or pedigree records. Persistency of rg , g ^ was high for small Np , where predominantly cosegregation contributed to rg , g ^ , but also for large Np , where LDA replaced cosegregation as the dominant information source. Together with increasing genetic variance, this compensation resulted in relatively constant long- and short-term genetic gain for increasing Np > 4, given long-range LDA in the ancestral population. Although our scenarios suggest that information from pedigree relationships contributed to rg , g ^ for only very few generations in GS, we expect a longer contribution than in pedigree BLUP, because capturing Mendelian sampling by markers reduces selective pressure on pedigree relationships. Larger TS size (NTS and higher marker density improved persistency of rg , g ^ and hence genetic gain, but additional recombinations could not increase genetic gain.

  17. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

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

  18. Assisted Living

    Science.gov (United States)

    ... a resident's needs depends as much on the philosophy and services of the assisted living facility as it does on the quality of care. The Administration on Aging, a part of the U.S. Department of Health and Human Services (HHS), offers these suggestions to help you ...

  19. Assistive Devices

    Science.gov (United States)

    If you have a disability or injury, you may use a number of assistive devices. These are tools, products or types of equipment that help you perform tasks and activities. They may help you move around, see, communicate, eat, or get ...

  20. Genetic Mapping

    Science.gov (United States)

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

  1. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

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

  2. Foreign assistance

    International Nuclear Information System (INIS)

    1991-07-01

    This paper reports that providing energy assistance to developing countries remains a relatively low priority of the Agency for International Development. AID is helping some developing countries meet their energy needs, but this assistance varies substantially because of the agency's decentralized structure. Most AID energy funding has gone to a handful of countries-primarily Egypt and Pakistan. With limited funding in most other countries, AID concentrates on providing technical expertise and promoting energy policy reforms that will encourage both energy efficiency and leverage investment by the private sector and other donors. Although a 1989 congressional directive to pursue a global warming initiative has had a marginal impact on the agency's energy programming, many AID energy programs, including those directed at energy conservation, help address global warming concerns

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

    Science.gov (United States)

    Šimečková, V

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

  4. Quantitative genetic analysis of methylxanthines and phenolic compounds in mate progenies Análise genética quantitativa de metilxantinas e compostos fenólicos em progênies de erva-mate

    Directory of Open Access Journals (Sweden)

    Euclides Lara Cardozo Junior

    2010-02-01

    Full Text Available The objective of this work was to determine the contents of methylxanthines, caffeine and theobromine, and phenolic compounds, chlorogenic and caffeic acids, in 51 mate progenies (half-sib families and estimate the heritability of genetic parameters. Mate progenies were from five Brazilian municipalities: Pinhão, Ivaí, Barão de Cotegipe, Quedas do Iguaçu, and Cascavel. The progenies were grown in the Ivaí locality. The contents of the compounds were obtained by high performance liquid chromatography (HPLC. The estimation of genetic parameters by the restricted maximum likelihood (REML and the prediction of genotypic values via best linear unbiased prediction (BLUP were obtained by the Selegen - REML/BLUP software. Caffeine (0.248-1.663% and theobromine (0.106-0.807% contents were significantly different (p0.5. The two different progeny groups determined for chlorogenic (1.365-2.281% and caffeic (0.027-0.037% acid contents were not significantly different (pO objetivo deste trabalho foi determinar o teor de metilxantinas, cafeína e teobromina, e de compostos fenólicos, ácido clorogênico e ácido cafeico, em 51 progênies de erva-mate e estimar componentes de variância e herdabilidade. As progênies de erva-mate eram oriundas de cinco municipios brasileiros: Pinhão, Ivaí, Barão do Cotegipe, Quedas do Iguaçu e Cascavel. Essas progênies foram cultivadas na localidade de Ivaí. O conteúdo dos compostos foi obtido por cromatografia líquida de alta eficiência (CLAE. Na estimativa dos componentes da variância e dos parâmetros genotípicos, utilizou-se a metodologia de modelos mistos para a obtenção da melhor predição linear não viciada (BLUP dos efeitos genotípicos e o processo da máxima verossimilhança restrita (REML, processados pelo programa Selegen - REML/BLUP. Os conteúdos de cafeína (0,248-1,663 % e teobromina (0,106-0.807% foram significativamente (p0,5. Foram determinados dois diferentes grupos de progênie para

  5. Machine learning in genetics and genomics

    Science.gov (United States)

    Libbrecht, Maxwell W.; Noble, William Stafford

    2016-01-01

    The field of machine learning promises to enable computers to assist humans in making sense of large, complex data sets. In this review, we outline some of the main applications of machine learning to genetic and genomic data. In the process, we identify some recurrent challenges associated with this type of analysis and provide general guidelines to assist in the practical application of machine learning to real genetic and genomic data. PMID:25948244

  6. Prediction of genetic gains by selection indices using mixed models in elephant grass for energy purposes.

    Science.gov (United States)

    Silva, V B; Daher, R F; Araújo, M S B; Souza, Y P; Cassaro, S; Menezes, B R S; Gravina, L M; Novo, A A C; Tardin, F D; Júnior, A T Amaral

    2017-09-27

    Genetically improved cultivars of elephant grass need to be adapted to different ecosystems with a faster growth speed and lower seasonality of biomass production over the year. This study aimed to use selection indices using mixed models (REML/BLUP) for selecting families and progenies within full-sib families of elephant grass (Pennisetum purpureum) for biomass production. One hundred and twenty full-sib progenies were assessed from 2014 to 2015 in a randomized block design with three replications. During this period, the traits dry matter production, the number of tillers, plant height, stem diameter, and neutral detergent fiber were assessed. Families 3 and 1 were the best classified, being the most indicated for selection effect. Progenies 40, 45, 46, and 49 got the first positions in the three indices assessed in the first cut. The gain for individual 40 was 161.76% using Mulamba and Mock index. The use of selection indices using mixed models is advantageous in elephant grass since they provide high gains with the selection, which are distributed among all the assessed traits in the most appropriate situation to breeding programs.

  7. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

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

  8. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

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

  9. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

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

  10. Harvesting Legume Genomes: Plant Genetic Resources

    Science.gov (United States)

    Genomics and high through-put phenotyping are ushering in a new era of accessing genetic diversity held in plant genetic resources, the cornerstone of both traditional and genomics-assisted breeding efforts of food legume crops. Acknowledged or not, yield plateaus must be broken given the daunting ...

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. P. JAYAPRAKASH. Articles written in Journal of Genetics. Volume 96 Issue 6 December 2017 pp 951-957 RESEARCH ARTICLE. Marker-assisted pyramiding of Thinopyrum -derived leaf rust resistance genes Lr19 and Lr24 in bread wheat variety HD2733 · MONA SINGH N. MALLICK ...

  12. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  13. Assisted Vaginal Delivery

    Science.gov (United States)

    ... Education & Events Advocacy For Patients About ACOG Assisted Vaginal Delivery Home For Patients Search FAQs Assisted Vaginal ... Vaginal Delivery FAQ192, February 2016 PDF Format Assisted Vaginal Delivery Labor, Delivery, and Postpartum Care What is ...

  14. Canine assisted reading

    OpenAIRE

    Sever, Jerneja

    2016-01-01

    The diploma thesis presents various aspects of animals included in animal-assisted interventions. In theoretical part, I introduced different possible ways of animal-assisted interventions: animal-assisted therapy, animal-assisted activities and animal-assisted education. Animals became common visitors in educational settings all over the world. I presented positive influences on various aspects of human life, as well limitations when animal-assisted interventions are not possible to perform ...

  15. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

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

  16. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  17. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  18. Evolutionary genetics

    National Research Council Canada - National Science Library

    Maynard Smith, John

    1989-01-01

    .... It differs from other textbooks of population genetics in applying the basic theory to topics, such as social behaviour, molecular evolution, reiterated DNA, and sex, which are the main subjects...

  19. Genetic Discrimination

    Science.gov (United States)

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

  20. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  1. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  2. Safety of genetically engineered foods: approaches to assessing unintended health effects

    National Research Council Canada - National Science Library

    Committee on Identifying and Assessing Unintended Effects of Genetically Engineered Foods on Human Health, National Research Council

    2004-01-01

    Assists policymakers in evaluating the appropriate scientific methods for detecting unintended changes in food and assessing the potential for adverse health effects from genetically modified products...

  3. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  4. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  5. Institutionalizing Security Force Assistance

    National Research Council Canada - National Science Library

    Binetti, Michael R

    2008-01-01

    .... It looks at the manner in which security assistance guidance is developed and executed. An examination of national level policy and the guidance from senior military and civilian leaders highlights the important role of Security Force Assistance...

  6. ForeignAssistance.gov

    Data.gov (United States)

    US Agency for International Development — ForeignAssistance.gov provides a view of U.S. Government foreign assistance funds across agencies and enables users to explore, analyze, and review aid investments...

  7. Partnership for Prescription Assistance

    Science.gov (United States)

    ... may use our name without our permission. The Partnership for Prescription Assistance will help you find the ... Events Blog Facebook Twitter Start living better. The Partnership for Prescription Assistance helps qualifying patients without prescription ...

  8. Assisted delivery with forceps

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000509.htm Assisted delivery with forceps To use the sharing features on ... called vacuum assisted delivery . When is a Forceps Delivery Needed? Even after your cervix is fully dilated ( ...

  9. Vacuum-assisted delivery

    Science.gov (United States)

    ... medlineplus.gov/ency/patientinstructions/000514.htm Vacuum-assisted delivery To use the sharing features on this page, ... through the birth canal. When is Vacuum-assisted Delivery Needed? Even after your cervix is fully dilated ( ...

  10. Estimação de parâmetros genéticos e seleção de procedências e famílias de Dipteryx alata Vogel (baru utilizando metodologia de REML/BLUP e E(QM

    Directory of Open Access Journals (Sweden)

    Rodrigo Barros Rocha

    2009-09-01

    Full Text Available The baru (Dipteryx alata Vogel, Faboideae Leguminosae that occurs in Brazil Central is valued by its multiple uses. The objective of this study was to quantify the genetic variability of baru provenances and the genetic progress with the different selection strategies. The increase in total height was measured in progeny and provenance test of three years old using experimental random blocks design with plot information using six replications of ten plants per family with row spacing of 3 x 2m. There were no significant differences between the studied provenances and only “Santa Vitória”, “Capinópolis” and “Campina Verde” showed significativally genetic variability among progenies within provenances. The combined selection provided genetic gains of greater magnitude and accuracy. The low accuracy of the families selection of was mainly due to lack of genetic variability among families within some origins.

  11. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  12. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  13. Foreign Assistance: Treasury's Technical Assistance Program

    National Research Council Canada - National Science Library

    Ford, Jess

    1999-01-01

    After the collapse of communism in Central Europe and the dissolution of the Soviet Union, the United States developed programs of technical assistance to help countries transition to market economies and democracy...

  14. John Day Steelhead - Genetic Monitoring of John Day Steelhead

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Assist Oregon Department of Fish and Wildlife (ODFW) in determining the extent to which genetic introgression exists between Snake River hatchery steelhead straying...

  15. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

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

  16. New Genetics

    Science.gov (United States)

    ... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

  17. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

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

  18. Melanoma genetics

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  19. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  20. Genetic analysis

    NARCIS (Netherlands)

    Koornneef, M.; Alonso-Blanco, C.; Stam, P.

    2006-01-01

    The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance

  1. Molecular genetics

    International Nuclear Information System (INIS)

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

  2. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  3. Genetic effects

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  4. Accounting for unknown foster dams in the genetic evaluation of embryo transfer progeny.

    Science.gov (United States)

    Suárez, M J; Munilla, S; Cantet, R J C

    2015-02-01

    Animals born by embryo transfer (ET) are usually not included in the genetic evaluation of beef cattle for preweaning growth if the recipient dam is unknown. This is primarily to avoid potential bias in the estimation of the unknown age of dam. We present a method that allows including records of calves with unknown age of dam. Assumptions are as follows: (i) foster cows belong to the same breed being evaluated, (ii) there is no correlation between the breeding value (BV) of the calf and the maternal BV of the recipient cow, and (iii) cows of all ages are used as recipients. We examine the issue of bias for the fixed level of unknown age of dam (AOD) and propose an estimator of the effect based on classical measurement error theory (MEM) and a Bayesian approach. Using stochastic simulation under random mating or selection, the MEM estimating equations were compared with BLUP in two situations as follows: (i) full information (FI); (ii) missing AOD information on some dams. Predictions of breeding value (PBV) from the FI situation had the smallest empirical average bias followed by PBV obtained without taking measurement error into account. In turn, MEM displayed the highest bias, although the differences were small. On the other hand, MEM showed the smallest MSEP, for either random mating or selection, followed by FI, whereas ignoring measurement error produced the largest MSEP. As a consequence from the smallest MSEP with a relatively small bias, empirical accuracies of PBV were larger for MEM than those for full information, which in turn showed larger accuracies than the situation ignoring measurement error. It is concluded that MEM equations are a useful alternative for analysing weaning weight data when recipient cows are unknown, as it mitigates the effects of bias in AOD by decreasing MSEP. © 2014 Blackwell Verlag GmbH.

  5. Genetic effects

    International Nuclear Information System (INIS)

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

    1985-01-01

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

  6. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  7. Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes

    Directory of Open Access Journals (Sweden)

    Jenny Chang-Claude

    1999-01-01

    Full Text Available For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.

  8. Molecular species identification and population genetics of ...

    African Journals Online (AJOL)

    Molecular genetic techniques, such as DNA barcoding and genotyping, are increasingly being used to assist with the conservation and management of chondrichthyans worldwide. Southern Africa is a shark biodiversity hotspot, with a large number of endemic species. According to the IUCN Red List, a quarter of South ...

  9. Molecular markers unravel intraspecific and interspecific genetic ...

    Indian Academy of Sciences (India)

    [Kotwal S., Dhar M. K., Kour B., Raj K. and Kaul S. 2013 Molecular markers unravel intraspecific and interspecific genetic variability in ... of bowel problems including chronic constipation, amoebic ..... while to select parents from accessions, Pov80 and Pov79 ... nology (DBT), Govt. of India, for financial assistance in the form.

  10. Assisted suicide and euthanasia.

    Science.gov (United States)

    van der Heide, Agnes

    2013-01-01

    Several countries have adopted laws that regulate physician assistance in dying. Such assistance may consist of providing a patient with a prescription of lethal medication that is self-administered by the patient, which is usually referred to as (physician) assistance in suicide, or of administering lethal medication to a patient, which is referred to as euthanasia. The main aim of regulating physician assistance in dying is to bring these practices into the open and to provide physicians with legal certainty. A key condition in all jurisdictions that have regulated either assistance in suicide or euthanasia is that physicians are only allowed to engage in these acts upon the explicit and voluntary request of the patient. All systems that allow physician assistance in dying have also in some way included the notion that physician assistance in dying is only accepted when it is the only means to address severe suffering from an incurable medical condition. Arguments against the legal regulation of physician assistance in dying include principled arguments, such as the wrongness of hastening death, and arguments that emphasize the negative consequences of allowing physician assistance in dying, such as a devaluation of the lives of older people, or people with chronic disease or disabilities. Opinion polls show that some form of accepting and regulating euthanasia and physician assistance in suicide is increasingly supported by the general population in most western countries. Studies in countries where physician assistance in dying is regulated suggest that practices have remained rather stable in most jurisdictions and that physicians adhere to the legal criteria in the vast majority of cases. © 2013 Elsevier B.V. All rights reserved.

  11. NORD's Patient Assistance Programs

    Science.gov (United States)

    ... vsl3ds@rarediseases.org Fax: 1-203-349-8172 Urea Cycle Disorder | Accepting Applications Co-Pay Assistance Medical Assistance Medical ... this program here* *aprender más sobre este programa* Urea Cycle Disorders Diagnostic Testing Phone: 877-333-1860 Fax: 203- ...

  12. Steering and evasion assist

    NARCIS (Netherlands)

    Dang, T.; Desens, J.; Franke, U.; Gavrila, D.; Schäfers, L.; Ziegler, W.; Eskandarian, A.

    2012-01-01

    Steering and evasion assistance defines a new and future class of driver assistance systems to avoid an impending collision with other traffic participants. Dynamic and kinematic considerations reveal that an evasive steering maneuver has high potential for collision avoidance in many driving

  13. Training Teaching Assistants.

    Science.gov (United States)

    Rava, Susan

    1987-01-01

    Washington University's (Missouri) Department of Romance Languages and Literature requires its graduate teaching assistants to take a one-semester pedagogy course to ensure their competence and effectiveness as teaching assistants. The course features seminars in which goals, expectations, and learning theories are discussed and practice teaching…

  14. Competition for Assistance Agreements

    Science.gov (United States)

    It is EPA policy to promote competition in the award of assistance agreements to the maximum extent practicable.When assistance agreements are awarded competitively, it is EPA policy that the competitive process be fair and open & that no applicant receive

  15. Robotic assisted laparoscopic colectomy.

    LENUS (Irish Health Repository)

    Pandalai, S

    2010-06-01

    Robotic surgery has evolved over the last decade to compensate for limitations in human dexterity. It avoids the need for a trained assistant while decreasing error rates such as perforations. The nature of the robotic assistance varies from voice activated camera control to more elaborate telerobotic systems such as the Zeus and the Da Vinci where the surgeon controls the robotic arms using a console. Herein, we report the first series of robotic assisted colectomies in Ireland using a voice activated camera control system.

  16. FEMA Hazard Mitigation Assistance Flood Mitigation Assistance (FMA) Data

    Data.gov (United States)

    Department of Homeland Security — This dataset contains closed and obligated projects funded under the following Hazard Mitigation Assistance (HMA) grant programs: Flood Mitigation Assistance (FMA)....

  17. Comparison of whole-genome prediction models for traits with contrasting genetic architecture in a diversity panel of maize inbred lines

    Directory of Open Access Journals (Sweden)

    Riedelsheimer Christian

    2012-09-01

    Full Text Available Abstract Background There is increasing empirical evidence that whole-genome prediction (WGP is a powerful tool for predicting line and hybrid performance in maize. However, there is a lack of knowledge about the sensitivity of WGP models towards the genetic architecture of the trait. Whereas previous studies exclusively focused on highly polygenic traits, important agronomic traits such as disease resistances, nutrifunctional or climate adaptational traits have a genetic architecture which is either much less complex or unknown. For such cases, information about model robustness and guidelines for model selection are lacking. Here, we compared five WGP models with different assumptions about the distribution of the underlying genetic effects. As contrasting model traits, we chose three highly polygenic agronomic traits and three metabolites each with a major QTL explaining 22 to 30% of the genetic variance in a panel of 289 diverse maize inbred lines genotyped with 56,110 SNPs. Results We found the five WGP models to be remarkable robust towards trait architecture with the largest differences in prediction accuracies ranging between 0.05 and 0.14 for the same trait, most likely as the result of the high level of linkage disequilibrium prevailing in elite maize germplasm. Whereas RR-BLUP performed best for the agronomic traits, it was inferior to LASSO or elastic net for the three metabolites. We found the approach of genome partitioning of genetic variance, first applied in human genetics, as useful in guiding the breeder which model to choose, if prior knowledge of the trait architecture is lacking. Conclusions Our results suggest that in diverse germplasm of elite maize inbred lines with a high level of LD, WGP models differ only slightly in their accuracies, irrespective of the number and effects of QTL found in previous linkage or association mapping studies. However, small gains in prediction accuracies can be achieved if the WGP model is

  18. Molecular genetics

    International Nuclear Information System (INIS)

    Kubitschek, H.E.

    1975-01-01

    Progress is reported on studies on the nature and action of lethal and mutagenic lesions in DNA and the mechanisms by which these are produced in bacteria by ionizing radiation or by decay of radioisotopes incorporated in DNA. Studies of radioisotope decay provide the advantages that the original lesion is localized in the genetic material and the immediate physical and chemical changes that occur at decay are known. Specific types of DNA damage were related to characteristic decay properties of several radioisotopes. Incorporated 125 I, for example, induces a double-stranded break in DNA with almost every decay, but causes remarkably little damage of any other kind to the DNA. (U.S.)

  19. Genetic Engineering Workshop Report, 2010

    Energy Technology Data Exchange (ETDEWEB)

    Allen, J; Slezak, T

    2010-11-03

    The Lawrence Livermore National Laboratory (LLNL) Bioinformatics group has recently taken on a role in DTRA's Transformation Medical Technologies (TMT) program. The high-level goal of TMT is to accelerate the development of broad-spectrum countermeasures. To achieve this goal, there is a need to assess the genetic engineering (GE) approaches, potential application as well as detection and mitigation strategies. LLNL was tasked to coordinate a workshop to determine the scope of investments that DTRA should make to stay current with the rapid advances in genetic engineering technologies, so that accidental or malicious uses of GE technologies could be adequately detected and characterized. Attachment A is an earlier report produced by LLNL for TMT that provides some relevant background on Genetic Engineering detection. A workshop was held on September 23-24, 2010 in Springfield, Virginia. It was attended by a total of 55 people (see Attachment B). Twenty four (44%) of the attendees were academic researchers involved in GE or bioinformatics technology, 6 (11%) were from DTRA or the TMT program management, 7 (13%) were current TMT performers (including Jonathan Allen and Tom Slezak of LLNL who hosted the workshop), 11 (20%) were from other Federal agencies, and 7 (13%) were from industries that are involved in genetic engineering. Several attendees could be placed in multiple categories. There were 26 attendees (47%) who were from out of the DC area and received travel assistance through Invitational Travel Orders (ITOs). We note that this workshop could not have been as successful without the ability to invite experts from outside of the Beltway region. This workshop was an unclassified discussion of the science behind current genetic engineering capabilities. US citizenship was not required for attendance. While this may have limited some discussions concerning risk, we felt that it was more important for this first workshop to focus on the scientific state of

  20. Estimativas de parâmetros genéticos e ganhos de seleção em progênies de polinização aberta de açaizeiro Estimates of genetic parameters and selection gains in progenyes of open pollination of açai tree (Euterpe oleracea

    Directory of Open Access Journals (Sweden)

    João Tomé de Farias Neto

    2008-12-01

    Full Text Available O presente trabalho teve como objetivos estudar a variabilidade genética, estimar parâmetros genéticos e fenotípicos, e realizar a predição de valores genéticos dos indivíduos de açaizeiro irrigado no Estado do Pará, utilizando a metodologia BLUP/REML a partir da avaliação de progênies com base nos caracteres altura do primeiro cacho (APC, peso total do cacho (PTC, peso total de frutos (PTF, número de cachos (NC, peso médio do cacho (PMC, comprimento médio da ráquis (CMR, número médio de ráquilas (NMR, número de perfilhos (NP e peso médio de cem frutos (P100. Cinqüenta progênies foram avaliadas em dois látices 5 x 5 com duas repetições e parcelas lineares de cinco plantas cada, no espaçamento de 5 m x 5 m. O programa computacional Selegen- Reml/Blup foi utilizado para as análises genéticas e a identificação dos melhores indivíduos para compor a população de produção de sementes para um programa a curto prazo e a de melhoramento para um programa a longo prazo. As correlações genotípicas de maiores magnitudes foram aquelas envolvendo o peso total de frutos e peso total do cacho, peso total do cacho e número de cacho e peso total de fruto e número de cacho, indicando que a seleção para peso total de frutos pode ser realizada por meio da seleção daquela de mais fácil seleção. As estimativas dos parâmetros genéticos obtidos revelam excelente potencial seletivo da população e variabilidade genética suficiente para o melhoramento genético da população a curto e longo prazos. Ganho genético considerável de 45,33% em relação à média do experimento pode ser obtido com a seleção dos 20 melhores indivíduos para o caráter produção total de frutos.The present work aimed to study the genetic variability, estimate the genetic and phenotypic parameters and to conduct the prediction of genetic values of individuals of irrigated açai tree in the state of Pará. The objective was the selection

  1. Computer assisted roentgenology

    International Nuclear Information System (INIS)

    Trajkova, N.; Velkova, K.

    1999-01-01

    This is a report on the potentials and superiorities of computer tomography (CT), assumed as an up-to-date imaging examination method in medicine. The current trend in the development of computer assisted roentgenology consists in the implementation of new computer and communication systems promoting diagnostic and therapeutic activities. CT-study application is discussed with special reference to diagnosis and treatment of brain, lung, mediastinal and abdominal diseases. The new trends in the particular implementation of CT are presented, namely: CT-assisted biopsy, CT-assisted abscess drainage, drug administration under CT control, as well as the wide use of CT in orthopaedic surgery, otorinolaryngology etc. Also emphasis is laid on the important role played by three-dimensional technologies in computer-assisted surgery, leading to qualitatively new stage in the surgical therapeutic approach to patients

  2. Technical Assistance Plan (TAP)

    Science.gov (United States)

    A Technical Assistance Plan (TAP) enables community groups to retain the services of an independent technical advisor and to provide resources for a community group to help inform other community members about site decisions.

  3. Superfund Technical Assistance Grants

    Data.gov (United States)

    U.S. Environmental Protection Agency — This asset includes data related to the Superfund Technical Assistance Grant program, including grant number, award amounts, award dates, period of performance,...

  4. Computer assisted radiology

    International Nuclear Information System (INIS)

    Lemke, H.U.; Jaffe, C.C.; Felix, R.

    1993-01-01

    The proceedings of the CAR'93 symposium present the 126 oral papers and the 58 posters contributed to the four Technical Sessions entitled: (1) Image Management, (2) Medical Workstations, (3) Digital Image Generation - DIG, and (4) Application Systems - AS. Topics discussed in Session (1) are: picture archiving and communication systems, teleradiology, hospital information systems and radiological information systems, technology assessment and implications, standards, and data bases. Session (2) deals with computer vision, computer graphics, design and application, man computer interaction. Session (3) goes into the details of the diagnostic examination methods such as digital radiography, MRI, CT, nuclear medicine, ultrasound, digital angiography, and multimodality imaging. Session (4) is devoted to computer-assisted techniques, as there are: computer assisted radiological diagnosis, knowledge based systems, computer assisted radiation therapy and computer assisted surgical planning. (UWA). 266 figs [de

  5. Computer Assisted Instruction

    Science.gov (United States)

    Higgins, Paul

    1976-01-01

    Methodology for developing a computer assisted instruction (CAI) lesson (scripting, programing, and testing) is reviewed. A project done by Informatics Education Ltd. (IEL) for the Department of National Defense (DND) is used as an example. (JT)

  6. Dental Assisting Program Standards.

    Science.gov (United States)

    Georgia Univ., Athens. Dept. of Vocational Education.

    This publication contains statewide standards for the dental assisting program in Georgia. The standards are divided into 12 categories: foundations (philosophy, purpose, goals, program objectives, availability, evaluation); admissions (admission requirements, provisional admission requirements, recruitment, evaluation and planning); program…

  7. Computer-assisted radiology

    International Nuclear Information System (INIS)

    Lemke, H.U.

    1988-01-01

    New digital imaging modalities and more sophisticated image processing systems will have a profound effect on those areas of medicine concerned with imaging. This mainly means computer-assisted radiology (CAR) and implies a transition from analog film systems to digital imaging systems, integration of digital imaging modalities through picture archiving and communication systems (PACS) and the graduated employment of image-oriented medical work stations (MWS) for computer-assisted representation, communication, diagnosis, and therapy planning. (orig.) [de

  8. Non-Guard Interval based and Genetic Algorithm Assisted ...

    African Journals Online (AJOL)

    USER

    transmission. ... multipath gain magnitude is recommended in this model, because the ... rounded to integer times of the delay resolution c. T (Chu and. Murch, 2006). The total numbers of observed clusters and the number of multipath ...

  9. Marker-assisted pyramiding of Thinopyrum-derived leaf rust ...

    Indian Academy of Sciences (India)

    Annual Meetings · Mid Year Meetings · Discussion Meetings · Public Lectures · Lecture Workshops · Refresher Courses · Symposia · Live Streaming. Home; Journals; Journal of Genetics; Volume 96; Issue 6. Marker-assisted pyramiding of Thinopyrum-derived leaf rust resistance genes Lr19 and Lr24 in bread wheat variety ...

  10. Genetic and physiology basis of the quality of livestock products.

    Directory of Open Access Journals (Sweden)

    Marcello Mele

    2011-02-01

    Full Text Available The animal research gives more attention, for more than twenty years, to the improvement of food quality, because this aspect plays an important role in the consumer choice. In this paper are browsed the principal foods of animal origin (milk, meat and eggs, paying attention on the actual genetic and physiologic knowledge, which influence the quality characteristic. Particularly, we examined the role of Quantitative Genetic in bovine and swine and the growing knowledge about animal genomes and individuation of QTL. Information on genomic regions that control QTL, allow to organize genetic improvement programs, using Markers Assisted Selection (MAS and Markers Assisted Introgression (MAI. Moreover are reported the knowledge about metabolic processes that influence quality especially on lipid and protein component. About other productions are considered the physiology of eggs production and the genetic improvement of hens. Finally the qualitative aspects about poultry and rabbit meat and the actual genetic improvement strategy are reported.

  11. Financial Assistance Information

    Science.gov (United States)

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

  12. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  13. Genetic programming in microorganisms

    Energy Technology Data Exchange (ETDEWEB)

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  14. [Current issues of assisted reproduction in the Czech Republic].

    Science.gov (United States)

    Ventruba, P; Žáková, J; Trávník, P; Crha, I; Mrázek, M; Rumpík, D; Štěpán, J; Režábek, K; Mardešić, T; Malenovská, A; Veselá, K; Brandejská, M

    2013-08-01

    Participants of the lunch table discussion held during the 22nd symposium of assisted reproduction in Brno discussed some current topics of assisted reproduction. DISCUSSED TOPICS: More than 150 participants at round tables discussed 10 topics: 1. IVF in native AR cycle,2. observation of the embryo development dynamics, 3. evaluation and support of endometrial receptivity,4. increased number of elective single embryo transfers (eSET), 5. transport of gametes and embryos in the Czech Republic and between the Czech Republic and abroad, 6. National registry of assisted reproduction,7. new view on sperm pathology, 8. problems with the SAR membership records, 9. surogacy motherhood and 10. preimplantation genetic diagnosis and preimplantation genetic screening. All findings were presented in the afternoon session. Some of the topics brought concrete results. Some topics could not be clearly concluded and will be the subject of further discussions. A brief summary of those discussion conclusions presents this paper.

  15. Femtosecond-laser assisted cell reprogramming

    Science.gov (United States)

    Breunig, Hans Georg; Uchugonova, Aisada; Batista, Ana; König, Karsten

    2017-02-01

    Femtosecond-laser pulses can assist to transfect cells by creating transient holes in the cell membrane, thus making them temporarily permeable for extraneous genetic material. This procedure offers the advantage of being completely "virus free" since no viruses are used for the delivery and integration of gene factors into the host genome and, thereby, avoiding serious side effects which so far prevent clinical application. Unfortunately, focusing of the laser radiation onto individual cell membranes is quite elaborate and time consuming. Regarding these obstacles, we briefly review two optical setups for fast, efficient and high throughput laser-assisted cell transfection based on femtosecond laser pulse excitation. The first setup aims at assisting the transfection of adherent cells. It comprises of a modified laser-scanning microscope with beamshaping optics as well as home-made software to automate the detection, targeting and laser-irradiation process. The second setup aims at laser-assisted transfection of non-adherent cells in suspension which move in a continuous flow through the laser focus region. The setup allows to address a large number of cells, however, with much lower transfection efficiency than the individual-cell targeting approach.

  16. Use of biological priors enhances understanding of genetic architecture and genomic prediction of complex traits within and between dairy cattle breeds.

    Science.gov (United States)

    Fang, Lingzhao; Sahana, Goutam; Ma, Peipei; Su, Guosheng; Yu, Ying; Zhang, Shengli; Lund, Mogens Sandø; Sørensen, Peter

    2017-08-10

    A better understanding of the genetic architecture underlying complex traits (e.g., the distribution of causal variants and their effects) may aid in the genomic prediction. Here, we hypothesized that the genomic variants of complex traits might be enriched in a subset of genomic regions defined by genes grouped on the basis of "Gene Ontology" (GO), and that incorporating this independent biological information into genomic prediction models might improve their predictive ability. Four complex traits (i.e., milk, fat and protein yields, and mastitis) together with imputed sequence variants in Holstein (HOL) and Jersey (JER) cattle were analysed. We first carried out a post-GWAS analysis in a HOL training population to assess the degree of enrichment of the association signals in the gene regions defined by each GO term. We then extended the genomic best linear unbiased prediction model (GBLUP) to a genomic feature BLUP (GFBLUP) model, including an additional genomic effect quantifying the joint effect of a group of variants located in a genomic feature. The GBLUP model using a single random effect assumes that all genomic variants contribute to the genomic relationship equally, whereas GFBLUP attributes different weights to the individual genomic relationships in the prediction equation based on the estimated genomic parameters. Our results demonstrate that the immune-relevant GO terms were more associated with mastitis than milk production, and several biologically meaningful GO terms improved the prediction accuracy with GFBLUP for the four traits, as compared with GBLUP. The improvement of the genomic prediction between breeds (the average increase across the four traits was 0.161) was more apparent than that it was within the HOL (the average increase across the four traits was 0.020). Our genomic feature modelling approaches provide a framework to simultaneously explore the genetic architecture and genomic prediction of complex traits by taking advantage of

  17. The accuracy of prediction of genomic selection in elite hybrid rye populations surpasses the accuracy of marker-assisted selection and is equally augmented by multiple field evaluation locations and test years.

    Science.gov (United States)

    Wang, Yu; Mette, Michael Florian; Miedaner, Thomas; Gottwald, Marlen; Wilde, Peer; Reif, Jochen C; Zhao, Yusheng

    2014-07-04

    Marker-assisted selection (MAS) and genomic selection (GS) based on genome-wide marker data provide powerful tools to predict the genotypic value of selection material in plant breeding. However, case-to-case optimization of these approaches is required to achieve maximum accuracy of prediction with reasonable input. Based on extended field evaluation data for grain yield, plant height, starch content and total pentosan content of elite hybrid rye derived from testcrosses involving two bi-parental populations that were genotyped with 1048 molecular markers, we compared the accuracy of prediction of MAS and GS in a cross-validation approach. MAS delivered generally lower and in addition potentially over-estimated accuracies of prediction than GS by ridge regression best linear unbiased prediction (RR-BLUP). The grade of relatedness of the plant material included in the estimation and test sets clearly affected the accuracy of prediction of GS. Within each of the two bi-parental populations, accuracies differed depending on the relatedness of the respective parental lines. Across populations, accuracy increased when both populations contributed to estimation and test set. In contrast, accuracy of prediction based on an estimation set from one population to a test set from the other population was low despite that the two bi-parental segregating populations under scrutiny shared one parental line. Limiting the number of locations or years in field testing reduced the accuracy of prediction of GS equally, supporting the view that to establish robust GS calibration models a sufficient number of test locations is of similar importance as extended testing for more than one year. In hybrid rye, genomic selection is superior to marker-assisted selection. However, it achieves high accuracies of prediction only for selection candidates closely related to the plant material evaluated in field trials, resulting in a rather pessimistic prognosis for distantly related material

  18. ASSIST user manual

    Science.gov (United States)

    Johnson, Sally C.; Boerschlein, David P.

    1995-01-01

    Semi-Markov models can be used to analyze the reliability of virtually any fault-tolerant system. However, the process of delineating all the states and transitions in a complex system model can be devastatingly tedious and error prone. The Abstract Semi-Markov Specification Interface to the SURE Tool (ASSIST) computer program allows the user to describe the semi-Markov model in a high-level language. Instead of listing the individual model states, the user specifies the rules governing the behavior of the system, and these are used to generate the model automatically. A few statements in the abstract language can describe a very large, complex model. Because no assumptions are made about the system being modeled, ASSIST can be used to generate models describing the behavior of any system. The ASSIST program and its input language are described and illustrated by examples.

  19. Isolation of novel microsatellites using FIASCO by dual probe enrichment from Jatropha curcas L. and study on genetic equilibrium and diversity of Indian population revealed by isolated microsatellites

    KAUST Repository

    Pamidimarri, D. V N N Sudheer; Rahman, Hifzur; Mastan, Shaik G.; Reddy, Muppala P.

    2010-01-01

    in the present study can be employed efficiently in breeding programs for genetic improvement of the species through marker assisted selection and QTL analysis, for further genetic resource management and help in making the J. curcas as potential crop

  20. Genetic analysis of half-sib progenies of Theobroma grandiflorum Análise genética de famílias de meios-irmãos de cupuaçuzeiro

    Directory of Open Access Journals (Sweden)

    Maria Clideana Cabral Maia

    2011-06-01

    Full Text Available

    The cupuaçuzeiro (Theobroma grandiflorum, species native from the Amazon region, has been domesticated presenting a broad genetic variability, and thus favorable conditions for establishing of strategies to breeding and genetic conservation. The aim of this work was to evaluate 36 half-sib progenies of Theobroma grandiflorum obtained from a stratified mass selection in farmers areas based on primary components of yield. The experiment for selection of elite progenies was set up in a randomized complete block design with three replications and four plants per plot. The fruit traits (length and width, in cm and components of production (average weight of fruit/plant; average weight of pulp with seeds/plant and average weight of pulp/plant, in g were evaluated. The data were analyzed through the methodology of REML/BLUP using the Selegen software. Analysis of grouping was performed using the matrix of genetic euclidean distances and Mahalanobis. The experimental population allowed the selection of superior parents for formation of base population to be used in the genetic improvement of cupuaçu. Among the 36 analyzed lineages only the genotypes 9, 10 and 18 showed genetic divergence and they can be recommended with some lineage of group 1 that demonstrates agronomic superiority to form base population of experimental clones with high genetic dissimilarity.

    doi: 10.4336/2011.pfb.31.66.123

    O cupuaçuzeiro, espécie nativa da região Amazônica, encontra-se em processo de domesticação, apresentando ampla variabilidade genética e condições favoráveis para o estabelecimento de estratégias de melhoramento e conservação. O objetivo foi avaliar geneticamente 36 progênies de meios-irmãos de cupuaçu oriundos de seleção massal estratificada em

  1. Assisted Dying in Canada.

    Science.gov (United States)

    Schuklenk, Udo

    This paper makes an affirmative ethical case in favour of the decriminalization of assisted dying in Canada. It then proceeds to defending the affirmative case against various slippery-slope arguments that are typically deployed by opponents of assisted dying. Finally, a recent case of questionable professional conduct by anti-euthanasia campaigners cum academics is flagged as a warning to all of us not to permit the quality of the professional debate to deteriorate unacceptably, despite the personal emotional investments involved on all sides of the debate.

  2. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  3. Assistance Focus: Africa

    Energy Technology Data Exchange (ETDEWEB)

    2017-05-18

    The Clean Energy Solutions Center, an initiative of the Clean Energy Ministerial, helps countries throughout the world create policies and programs that advance the deployment of clean energy technologies. Through the Solutions Center's no-cost Ask an Expert service, a team of international experts has delivered assistance to countries in all regions of the world, including Africa.

  4. Intelligent Speed Assistance (ISA).

    NARCIS (Netherlands)

    2015-01-01

    Intelligent Speed Assistance (ISA) has been a promising type of advanced driver support system for some decades. From a technical point of view, large scale ISA implementation is possible in the short term. The different types of ISA are expected to have different effects on behaviour and traffic

  5. Computer-assisted instruction

    NARCIS (Netherlands)

    Voogt, J.; Fisser, P.; Wright, J.D.

    2015-01-01

    Since the early days of computer technology in education in the 1960s, it was claimed that computers can assist instructional practice and hence improve student learning. Since then computer technology has developed, and its potential for education has increased. In this article, we first discuss

  6. Managing Employee Assistance Programmes.

    Science.gov (United States)

    Schmidenberg, Olive C.; Cordery, John L.

    1990-01-01

    Interviews with 20 branch managers and 20 accountants in an Australian bank determined factors influencing the success of an employee assistance program (EAP). It was found that policies requiring supervisors to act against normal managerial practice doom EAPs to failure. Organizational analysis to integrate the EAP within existing organizational…

  7. Employee Assistance Programs.

    Science.gov (United States)

    Levine, Hermine Zagat

    1985-01-01

    The author reports company responses to a questionnaire concerning employee assistance programs (EAP). Answers concern EAP structure, staff training, use of outside consultant, services provided by EAPs, program administration, employee confidence in EAPs, advertising the program, program philosophy, problems encountered by EAP users, coverage and…

  8. Robotic assisted andrological surgery

    Science.gov (United States)

    Parekattil, Sijo J; Gudeloglu, Ahmet

    2013-01-01

    The introduction of the operative microscope for andrological surgery in the 1970s provided enhanced magnification and accuracy, unparalleled to any previous visual loop or magnification techniques. This technology revolutionized techniques for microsurgery in andrology. Today, we may be on the verge of a second such revolution by the incorporation of robotic assisted platforms for microsurgery in andrology. Robotic assisted microsurgery is being utilized to a greater degree in andrology and a number of other microsurgical fields, such as ophthalmology, hand surgery, plastics and reconstructive surgery. The potential advantages of robotic assisted platforms include elimination of tremor, improved stability, surgeon ergonomics, scalability of motion, multi-input visual interphases with up to three simultaneous visual views, enhanced magnification, and the ability to manipulate three surgical instruments and cameras simultaneously. This review paper begins with the historical development of robotic microsurgery. It then provides an in-depth presentation of the technique and outcomes of common robotic microsurgical andrological procedures, such as vasectomy reversal, subinguinal varicocelectomy, targeted spermatic cord denervation (for chronic orchialgia) and robotic assisted microsurgical testicular sperm extraction (microTESE). PMID:23241637

  9. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  10. Navigating "Assisted Dying".

    Science.gov (United States)

    Schipper, Harvey

    2016-02-01

    Carter is a bellwether decision, an adjudication on a narrow point of law whose implications are vast across society, and whose impact may not be realized for years. Coupled with Quebec's Act Respecting End-of-life Care it has sharply changed the legal landscape with respect to actively ending a person's life. "Medically assisted dying" will be permitted under circumstances, and through processes, which have yet to be operationally defined. This decision carries with it moral assumptions, which mean that it will be difficult to reach a unifying consensus. For some, the decision and Act reflect a modern acknowledgement of individual autonomy. For others, allowing such acts is morally unspeakable. Having opened the Pandora's Box, the question becomes one of navigating a tolerable societal path. I believe it is possible to achieve a workable solution based on the core principle that "medically assisted dying" should be a very rarely employed last option, subject to transparent ongoing review, specifically as to why it was deemed necessary. My analysis is based on 1. The societal conditions in which have fostered demand for "assisted dying", 2. Actions in other jurisdictions, 3. Carter and Quebec Bill 52, 4. Political considerations, 5. Current medical practice. Leading to a series of recommendations regarding. 1. Legislation and regulation, 2. The role of professional regulatory agencies, 3. Medical professions education and practice, 4. Public education, 5. Health care delivery and palliative care. Given the burden of public opinion, and the legal steps already taken, a process for assisted-dying is required. However, those legal and regulatory steps should only be considered a necessary and defensive first step in a two stage process. The larger goal, the second step, is to drive the improvement of care, and thus minimize assisted-dying.

  11. The importance of information on relatives for the prediction of genomic breeding values and the implications for the makeup of reference data sets in livestock breeding schemes.

    Science.gov (United States)

    Clark, Samuel A; Hickey, John M; Daetwyler, Hans D; van der Werf, Julius H J

    2012-02-09

    The theory of genomic selection is based on the prediction of the effects of genetic markers in linkage disequilibrium with quantitative trait loci. However, genomic selection also relies on relationships between individuals to accurately predict genetic value. This study aimed to examine the importance of information on relatives versus that of unrelated or more distantly related individuals on the estimation of genomic breeding values. Simulated and real data were used to examine the effects of various degrees of relationship on the accuracy of genomic selection. Genomic Best Linear Unbiased Prediction (gBLUP) was compared to two pedigree based BLUP methods, one with a shallow one generation pedigree and the other with a deep ten generation pedigree. The accuracy of estimated breeding values for different groups of selection candidates that had varying degrees of relationships to a reference data set of 1750 animals was investigated. The gBLUP method predicted breeding values more accurately than BLUP. The most accurate breeding values were estimated using gBLUP for closely related animals. Similarly, the pedigree based BLUP methods were also accurate for closely related animals, however when the pedigree based BLUP methods were used to predict unrelated animals, the accuracy was close to zero. In contrast, gBLUP breeding values, for animals that had no pedigree relationship with animals in the reference data set, allowed substantial accuracy. An animal's relationship to the reference data set is an important factor for the accuracy of genomic predictions. Animals that share a close relationship to the reference data set had the highest accuracy from genomic predictions. However a baseline accuracy that is driven by the reference data set size and the overall population effective population size enables gBLUP to estimate a breeding value for unrelated animals within a population (breed), using information previously ignored by pedigree based BLUP methods.

  12. Preimplantation genetic diagnosis to improve pregnancy outcomes in subfertility.

    Science.gov (United States)

    Simpson, Joe Leigh

    2012-12-01

    Pre-implantation genetic diagnosis provides prenatal genetic diagnosis before implantation, thus allowing detection of chromosomal abnormalities and their exclusion from embryo transfer in assisted reproductive technologies. Polar body, blastomere or trophectoderm can each be used to obtain requisite genetic or embryonic DNA. Pre-implantation genetic diagnosis for excluding unbalanced translocations is well accepted, and pre-implantation genetic diagnosis aneuploidy testing to avoid repeated pregnancy losses in couples having recurrent aneuploidy is efficacious in reducing miscarriages. Controversy remains about whether pre-implantation genetic diagnosis aneuploidy testing improves take home pregnancy rates, for which reason adherence to specific indications is recommended while the issue is being adjudicated. Current recommendations are for obligatory 24 chromosome testing, most readily using array comparative genome hybridisation. Copyright © 2012 Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

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

    2014-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

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

  15. Marker-assisted selection in forestry species

    International Nuclear Information System (INIS)

    Butcher, P.; Southerton, S.

    2007-01-01

    The primary goal of tree breeding is to increase the quantity and quality of wood products from plantations. Major gains have been achieved using recurrent selection in genetically diverse breeding populations to capture additive variation. However, the long generation times of trees, together with poor juvenile-mature trait correlations, have promoted interest in marker-assisted selection (MAS) to accelerate breeding through early selection. MAS relies on identifying DNA markers, which explain a high proportion of variation in phenotypic traits. Genetic linkage maps have been developed for most commercial tree species and these can be used to locate chromosomal regions where DNA markers co-segregate with quantitative traits (quantitative trait loci, QTL). MAS based on QTL is most likely to be used for within-family selection in a limited number of elite families that can be clonally propagated. Limitations of the approach include the low resolution of marker-trait associations, the small proportion of phenotypic variation explained by QTL and the low success rate in validating QTL in different genetic backgrounds and environments. This has led to a change in research focus towards association mapping to identify variation in the DNA sequence of genes directly controlling phenotypic variation (gene-assisted selection, GAS). The main advantages of GAS are the high resolution of marker-trait associations and the ability to transfer markers across families and even species. Association studies are being used to examine the adaptive significance of variation in genes controlling wood formation and quality, pathogen resistance, cold tolerance and drought tolerance. Single nucleotide polymorphisms (SNPs) in these gene sequences that are significantly associated with trait variation can then be used for early selection. Markers for SNPs can be transferred among individuals regardless of pedigree or family relationship, increasing opportunities for their application in

  16. Sources of technical assistance

    International Nuclear Information System (INIS)

    Laue, H.J.

    1977-01-01

    This paper shows examples of technical assistance programmes within bilateral cooperation agreements between the Federal Republic of Germany and a number of developing countries of very different characteristics and summarizes the possibilities of technical assistance granted by international organizations, such as IAEA, UNDP, etc. A basic requirement for a successful transfer of technology is a high knowledge level of the indigenous scientists and engineers. Therefore, programmes for training and education and for information exchange are presented. Based on these, the means and methods of planning, performance and quality assurance are explained by practical examples and are related to the progress achieved in the use of nuclear energy and in establishing a national industry in the developing countries. (orig.) [de

  17. Atomic assistance in 1961

    International Nuclear Information System (INIS)

    1961-01-01

    More than 100 experts provided by the International Atomic Energy Agency will be working in different parts of the world this year, assisting the Agency's Member States in building up their national programs of peaceful atomic development. The total allocation of EPTA funds to the Agency for the two-year period 1961-62 is $1 393 600 (of which approximately half is available in 1961), and is meant not only for the provision of experts and equipment but also for training fellowships and regional projects. The countries which will receive Agency assistance in the form of experts and equipment this year are: Afghanistan, Argentina, Austria, Brazil, Burma, Ceylon, Chile, the Republic of China, Denmark, Greece, Guatemala, Iceland, Indonesia, Iran, Iraq, Israel, Japan, the Republic of Korea, the Republic of Mali, Mexico, Morocco, Pakistan, the Philippines, Senegal, the Sudan, Thailand, Tunisia, Turkey, the United Arab Republic, Vietnam and Yugoslavia

  18. Preparing for Assisted Reproductive Technology

    Science.gov (United States)

    ... CDC Cancel Submit Search The CDC Assisted Reproductive Technology (ART) Note: Javascript is disabled or is not ... visit this page: About CDC.gov . Assisted Reproductive Technology (ART) What Is ART Patient Resources Preparing for ...

  19. Assistance Focus: Africa

    Energy Technology Data Exchange (ETDEWEB)

    2017-03-29

    The Clean Energy Solutions Center, an initiative of the Clean Energy Ministerial, helps countries throughout the world create policies and programs that advance the deployment of clean energy technologies. Through the Solutions Center's no-cost 'Ask an Expert' service, a team of international experts has delivered assistance to countries in all regions of the world. High-impact examples from Africa are featured here.

  20. [EUTHANASIA AND ASSISTED SUICIDE].

    Science.gov (United States)

    Lantero, Caroline

    2015-07-01

    Euthanasia and assisted suicide are not part of French laws of bioethics and lack, for the time being, definition and normative framework other than their criminal prosecution. To transform them into a right, these concepts certainly call for an ethical and legal debate. This paper aims to question the ideas to be considered, the conceptual bases and normative tools that may be useful to the discussion.

  1. Virtual Reality Lab Assistant

    Science.gov (United States)

    Saha, Hrishikesh; Palmer, Timothy A.

    1996-01-01

    Virtual Reality Lab Assistant (VRLA) demonstration model is aligned for engineering and material science experiments to be performed by undergraduate and graduate students in the course as a pre-lab simulation experience. This will help students to get a preview of how to use the lab equipment and run experiments without using the lab hardware/software equipment. The quality of the time available for laboratory experiments can be significantly improved through the use of virtual reality technology.

  2. Virtual Personal Assistant

    OpenAIRE

    Imrie, Peter; Bednar, Peter

    2013-01-01

    Abstract This report discusses ways in which new technology could be harnessed to create an intelligent Virtual Personal Assistant (VPA) with a focus on user-based information. It will look at examples of intelligent programs with natural language processing that are currently available, with different categories of support, and examine the potential usefulness of one specific piece of software as a VPA. This engages the ability to communicate socially through natural language processing, hol...

  3. COMPUTER-ASSISTED ACCOUNTING

    Directory of Open Access Journals (Sweden)

    SORIN-CIPRIAN TEIUŞAN

    2009-01-01

    Full Text Available What is computer-assisted accounting? Where is the place and what is the role of the computer in the financial-accounting activity? What is the position and importance of the computer in the accountant’s activity? All these are questions that require scientific research in order to find the answers. The paper approaches the issue of the support granted to the accountant to organize and manage the accounting activity by the computer. Starting from the notions of accounting and computer, the concept of computer-assisted accounting is introduced, it has a general character and it refers to the accounting performed with the help of the computer or using the computer to automate the procedures performed by the person who is doing the accounting activity; this is a concept used to define the computer applications of the accounting activity. The arguments regarding the use of the computer to assist accounting targets the accounting informatization, the automating of the financial-accounting activities and the endowment with modern technology of the contemporary accounting.

  4. Training Students as Technology Assistants.

    Science.gov (United States)

    Onishi, Esther; Peto, Erica

    1996-01-01

    Describes a program where fifth and sixth graders are trained as school technology assistants. The childrens' duties include installation of software, making minor repairs, cleaning computer equipment, and assisting teachers and students. Outlines components of the program, lists forms the assistants use and skills they are taught, and provides…

  5. Heparin for assisted reproduction.

    Science.gov (United States)

    Akhtar, Muhammad A; Sur, Shyamaly; Raine-Fenning, Nick; Jayaprakasan, Kannamannadiar; Thornton, Jim G; Quenby, Siobhan

    2013-08-17

    Heparin as an adjunct in assisted reproduction (peri-implantation heparin) is given at or after egg collection or at embryo transfer during assisted reproduction. Heparin has been advocated to improve embryo implantation and clinical outcomes.  It has been proposed that heparin enhances the intra-uterine environment by improving decidualisation with an associated activation of growth factors and a cytokine expression profile in the endometrium that is favourable to pregnancy. To investigate whether the administration of heparin around the time of implantation (peri-implantation heparin) improves clinical outcomes in subfertile women undergoing assisted reproduction. A comprehensive and exhaustive search strategy was developed in consultation with the Trials Search Co-ordinator of the Cochrane Menstrual Disorders and Subfertility Group (MDSG). The strategy was used in an attempt to identify all relevant studies regardless of language or publication status (published, unpublished, in press, and in progress). Relevant trials were identified from both electronic databases and other resources (last search 6 May 2013). All randomised controlled trials (RCTs) were included where peri-implantation heparin was given during assisted reproduction. Peri-implantation low molecular weight heparin (LMWH) during IVF/ICSI was given at or after egg collection or at embryo transfer in the included studies. Live birth rate was the primary outcome. Two review authors independently assessed the eligibility and quality of trials and extracted relevant data. The quality of the evidence was evaluated using GRADE methods. Three RCTs (involving 386 women) were included in the review.Peri-implantation LMWH administration during assisted reproduction was associated with a significant improvement in live birth rate compared with placebo or no LMWH (odds ratio (OR) 1.77, 95% confidence interval (CI) 1.07 to 2.90, three studies, 386 women, I(2) = 51%, very low quality evidence with high

  6. Parâmetros genéticos cuantitativos em famílias de polinización aberta de Eucalyptus urophylla. The estimation of quantitative genetic parameters in open pollinated progênies of Eucalyptus urophylla.

    Directory of Open Access Journals (Sweden)

    Gabriel Costa ROCHA

    2016-12-01

    Full Text Available La eucaliptocultura en el Brasil representa aproximadamente 5,6 millones de hectáreas plantadas, con una producción media de madera de 39 m³.ha.año para el año 2014. Eucalyptus urophylla se destaca como una de las especies más utilizadas e importantes del género para los programas de mejoramiento en el país. De esta forma, el objetivo del presente trabajo fue estimar los parámetros genéticos para las características silviculturales en un ensayo de progenies de polinización abierta de Eucalyptus urophylla, considerando diferentes edades. El experimento fue implantado en área perteneciente a la empresa Eucatex, localizada en la ciudad de Itatinga/SP en un diseño de bloques al acaso, 20 progenies, nueve repeticiones, cinco plantas por parcela, totalizando 900 plantas. Se realizaron las siguientes evaluaciones: a altura de plantas; b diámetro de planta a la altura del pecho y c volumen de madera en metros cúbicos. La estimación de los parámetros genéticos cuantitativos fue realizado adoptando el procedimiento REML/BLUP. El análisis de desviación mostró diferencias significativas (p < 0,05 entre las progenies en estudio. La heredabilidad media de las progenies (h²mp% para los caracteres altura de planta a los 36 meses de edad (ALT: 96, diámetro a la altura del pecho (DAP: 94 y volumen de madera (VOL: 95 mostró alto control genético para la expresión de los caracteres. Las correlaciones fenotípicas y genéticas presentaron valores altos (70 a 97% realizadas con base al DAP, optimizando el trabajo del mejorador. The eucalypt cultivation in Brazil is approximately 5,6 million hectares planted, with an average wood production of 39 m³/hectares per year for 2014. Eucalyptus urophylla stands out as one of the most used and important species of the genus for the improvement programs in the country. Thus, the objective of this study was to estimate genetic parameters for silvicultural characters at a test of open pollinated

  7. Genetics Home Reference: SADDAN

    Science.gov (United States)

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

  8. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  9. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  10. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  11. Prenatal screening and genetics

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  12. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  13. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

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

  14. Genetics and Man

    Science.gov (United States)

    Carter, C. O.

    1973-01-01

    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  15. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  16. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  17. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  18. Genetic Pathways to Insomnia

    OpenAIRE

    Mackenzie J. Lind; Philip R. Gehrman

    2016-01-01

    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 identif...

  19. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  20. Phenylketonuria Genetic Screening Simulation

    Science.gov (United States)

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  1. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  2. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  3. Cell-Assisted Lipotransfer

    DEFF Research Database (Denmark)

    Toyserkani, Navid Mohamadpour; Quaade, Marlene Louise; Sørensen, Jens Ahm

    2016-01-01

    INTRODUCTION: Autologous lipotransfer is seen as an ideal filler for soft tissue reconstruction. The main limitation of this procedure is the unpredictable resorption and volume loss of the fat graft. In the recent decade, an increasing amount of research has focused on the use of adipose tissue......-derived stromal cells (ASCs) to enrich the fat graft, a procedure termed cell-assisted lipotransfer (CAL). The aim of this review was to systematically review the current preclinical and clinical evidence for the efficacy of CAL compared with conventional lipotransfer. MATERIALS AND METHODS: A systematic search...

  4. Hydrogen assisted diesel combustion

    Energy Technology Data Exchange (ETDEWEB)

    Lilik, Gregory K.; Boehman, Andre L. [The EMS Energy Institute, The Pennsylvania State University, University Park, PA 16802 (United States); Zhang, Hedan; Haworth, Daniel C. [Department of Mechanical and Nuclear Engineering, The Pennsylvania State University, University Park, PA 16802 (United States); Herreros, Jose Martin [Escuela Tecnica Superior de Ingenieros Industriales, Universidad de Castilla La-Mancha, Avda. Camilo Jose Cela s/n, 13071 Ciudad Real (Spain)

    2010-05-15

    Hydrogen assisted diesel combustion was investigated on a DDC/VM Motori 2.5L, 4-cylinder, turbocharged, common rail, direct injection light-duty diesel engine, with a focus on exhaust emissions. Hydrogen was substituted for diesel fuel on an energy basis of 0%, 2.5%, 5%, 7.5%, 10% and 15% by aspiration of hydrogen into the engine's intake air. Four speed and load conditions were investigated (1800 rpm at 25% and 75% of maximum output and 3600 rpm at 25% and 75% of maximum output). A significant retarding of injection timing by the engine's electronic control unit (ECU) was observed during the increased aspiration of hydrogen. The retarding of injection timing resulted in significant NO{sub X} emission reductions, however, the same emission reductions were achieved without aspirated hydrogen by manually retarding the injection timing. Subsequently, hydrogen assisted diesel combustion was examined, with the pilot and main injection timings locked, to study the effects caused directly by hydrogen addition. Hydrogen assisted diesel combustion resulted in a modest increase of NO{sub X} emissions and a shift in NO/NO{sub 2} ratio in which NO emissions decreased and NO{sub 2} emissions increased, with NO{sub 2} becoming the dominant NO{sub X} component in some combustion modes. Computational fluid dynamics analysis (CFD) of the hydrogen assisted diesel combustion process captured this trend and reproduced the experimentally observed trends of hydrogen's effect on the composition of NO{sub X} for some operating conditions. A model that explicitly accounts for turbulence-chemistry interactions using a transported probability density function (PDF) method was better able to reproduce the experimental trends, compared to a model that ignores the influence of turbulent fluctuations on mean chemical production rates, although the importance of the fluctuations is not as strong as has been reported in some other recent modeling studies. The CFD results confirm

  5. Regional Legal Assistance

    Directory of Open Access Journals (Sweden)

    Abdul Fatah

    2015-06-01

    Full Text Available Legal aid policy in the area carried out on several considerations including: Implementation of the authority given to the legal aid act, granting the guarantee and protection of access to justice and equality before the law in the area, equitable distribution of justice and increase public awareness and understanding of the law, and legal implications that accompanied the emergence of the right to legal counsel without pay and the right to choose the legal settlement. How To Cite Fatah, A. (2015. Regional Legal Assistance. Rechtsidee, 2(1, 1-10. doi:http://dx.doi.org/10.21070/jihr.v2i1.7

  6. Genetic and epigenetic factors: Role in male infertility

    Directory of Open Access Journals (Sweden)

    M B Shamsi

    2011-01-01

    Full Text Available Genetic factors contribute upto 15%-30% cases of male infertility. Formation of spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic differentiation phases each of which is controlled by an intricate genetic program. Genes control a variety of physiologic processes, such as hypothalamus-pituitary-gonadal axis, germ cell development, and differentiation. In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.

  7. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  9. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  10. All about Genetics (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español All About Genetics KidsHealth / For Parents / All About Genetics What's in ... the way they pick up special laboratory dyes. Genetic Problems Errors in the genetic code or "gene ...

  11. Left Ventricular Assist Devices

    Directory of Open Access Journals (Sweden)

    Khuansiri Narajeenron

    2017-04-01

    Full Text Available Audience: The audience for this classic team-based learning (cTBL session is emergency medicine residents, faculty, and students; although this topic is applicable to internal medicine and family medicine residents. Introduction: A left ventricular assist device (LVAD is a mechanical circulatory support device that can be placed in critically-ill patients who have poor left ventricular function. After LVAD implantation, patients have improved quality of life.1 The number of LVAD patients worldwide continues to rise. Left-ventricular assist device patients may present to the emergency department (ED with severe, life-threatening conditions. It is essential that emergency physicians have a good understanding of LVADs and their complications. Objectives: Upon completion of this cTBL module, the learner will be able to: 1 Properly assess LVAD patients’ circulatory status; 2 appropriately resuscitate LVAD patients; 3 identify common LVAD complications; 4 evaluate and appropriately manage patients with LVAD malfunctions. Method: The method for this didactic session is cTBL.

  12. Scaffolding in Assisted Instruction

    Directory of Open Access Journals (Sweden)

    2007-01-01

    Full Text Available On-The-Job Training, developed as direct instruction, is one of the earliest forms of training. This method is still widely in use today because it requires only a person who knows how to do the task, and the tools the person uses to do the task. This paper is intended to be a study of the methods used in education in Knowledge Society, with more specific aspects in training the trainers; as a result of this approach, it promotes scaffolding in assisted instruction as a reflection of the digital age for the learning process. Training the trainers in old environment with default techniques and designing the learning process in assisted instruction, as an application of the Vygotskian concept of the zone of proximal development (ZPD to the area of computer literacy for the younger users, generate diversity in educational communities and requires standards for technology infrastructure, standards for the content, developed as a concepts map, and applications for personalized in-struction, based on ZPD theory.

  13. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  14. Molecular genetics made simple

    Science.gov (United States)

    Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

    2012-01-01

    Abstract Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients. PMID:25610837

  15. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  16. Genetic diversity of Annona senegalensis Pers. populations as ...

    African Journals Online (AJOL)

    Annona senegalensis Pers. is one of the wild fruit tree for domestication in southern Africa. An assessment of the genetic diversity in A. senegalensis would assist in planning for future germplasm collection, conservation and fruit domestication programmes. During 2004 to 2006 nine populations were collected from different ...

  17. Genetic linkage map of cowpea (Vigna unguiculata (L.) Walp) using ...

    African Journals Online (AJOL)

    DR.ADETUNMBI

    2016-05-18

    May 18, 2016 ... Constructed map provides basic information that could assist in genetic improvement of .... mix contains two universal (FRET) fluorescent resonance energy transfer cassettes. (FAM and HEX), ROX™ passive reference dye, Taq polymerase, free nucleotides and MgCl2 in an optimized buffer solution, while ...

  18. Genetic linkage map of cowpea ( Vigna unguiculata (L.) Walp) using ...

    African Journals Online (AJOL)

    Genetic linkage maps provide a genomic framework for quantitative trait loci identification applied in marker assisted selection breeding in crops with limited resources. It serves as a powerful tool to breeders for analysing the mode of inheritance of genes of interest and monitoring of the transmission of target genes from ...

  19. The Preimplantation Genetic Diagnosis: Legal Aspects in the Spanish Law

    Directory of Open Access Journals (Sweden)

    Marina Moya González

    2018-03-01

    Full Text Available This paper analyses the preimplantation genetic diagnosis (PGD in Spain, and the legal aspects. It exposes the technical characteristics, as well as the ethical and social consequences. It compares the different rules of law about assisted human reproduction techniques in Spain, and those in some European countries.

  20. Employee Assistance Program Issues

    Science.gov (United States)

    Gettleman, Alan G.; McGuire, William

    1999-01-01

    Employee Assistance Program (EAP) officers, as well as personnel in other disciplines from eight NASA Centers, attended this breakout session. Ms. Brenda Blair, MA, CEAP, a guest speaker at the conference, also attended as a consultant. Representatives from the NASA Centers introduced themselves and spoke briefly about their programs. In a discussion related to the conference theme on benchmarking, quality control issues within the EAP community and adequate documentation of cases were addressed. Disposition and provision for quality assurance checks for EAP providers in single person offices were also discussed. Ms. Blair presented methods for consulting with other NASA personnel in single person EAP offices as a quality control measure. EAP intervention in critical incidents was discussed. The question of whether EAP assistance is an asset or a potential liability in those situations was addressed. Suggestions were made of topics for future EAP video-teleconference topics. A program on EAP ethics was planned for a September video teleconference. Each person was asked to provide intake forms they use to Mr. Gettleman or Ms. Blair. Ms. Blair said she would review the forms to ensure that adequate notification is provided to the client for confidentiality. She would also review them to ensure they have adequate limits of confidentiality--a topic for future video teleconferencing. Mr. Gettleman described the NASA initiative to reduce stresses in the workplace, and the activities of an ad-hoc EAP group that will make recommendations to NASA senior management. Alternative training methods were discussed for reaching target audiences such as employees at risk, supervisors, and others. Pfc. David A. Pendleton, Victim Assistance Coordinator, U.S. Capitol Police. U.S. House of Representatives made a special presentation. Pfc. Pendleton was on duty during the tragic shooting of two Federal guards at the U.S. Capitol. He related the events immediately after the incident. He

  1. Genetic selection Pinus greggii progeny to the establishment of seed orchards Seleção genética de progênies de Pinus greggii para formação de pomares de sementes

    Directory of Open Access Journals (Sweden)

    Ananda Virgínia de Aguiar

    2010-10-01

    Full Text Available The main deterrent to the adoption of new species for operational plantations is the availability of  genetically improved seeds in sufficient amount to supply the  market. Therefore, this study was carried out with the objective to estimate genetic parameters for individual selection as a basis to transform the field trial into a seedling seed orchard. The trial contained forty seven half-sib families from five Mexican provenances, including northern and central Mexico sources. These were planted at Ponta Grossa, Paraná State, Brazil, in a
    randomized complete block design with nine  replications of five-tree linear plots in a 3 m x 3 m spacing. Height, dbh (diameter at breast height and stem form were assessed in thirteen-year old tree. Variance components were estimated by using SELEGEN-REML/BLUP software. Other procedures included prediction of breeding values and deviance analyses. The significant genetic variation among provenances as well as among and within families in all traits confirmed their high value. The southern Mexico sources showed the highest productivity. The expected progress in  improvement through just one cycle of selection was estimated in 21.6 % in wood volume.

    doi: 10.4336/2010.pfb.30.62.107
    Um dos principais impedimentos para a adoção de novas espécies para as plantações comerciais é a

    escassez de sementes geneticamente melhoradas, em quantidade suficiente para abastecer o mercado. Portanto,

    o objetivo deste estudo foi estimar parâmetros genéticos que possibilitem a realização de seleção individual em

    um teste combinado de procedências e progênies de P. greggii como base para transformar a área num pomar

    de sementes por mudas. No presente trabalho, foram avaliadas cinco procedências e quarenta e sete progênies

    de P. greggii da região norte e central do México. O experimento foi instalado

  2. Three Paradigms of Social Assistance

    Directory of Open Access Journals (Sweden)

    Pierre-Marc Daigneault

    2014-11-01

    Full Text Available “Ideas,” which are defined as the normative and cognitive beliefs of actors, are fundamental to a full understanding of the welfare state and, in particular, of social assistance. However, policy ideas have been neglected in most typologies of social assistance regimes. Based on a selective review of the literature, this article proposes a brief but systematic analysis of policy paradigms in the field of social assistance. Three ideal types that emphasize the ideational dimension of social assistance are analyzed, namely, the entitlement, workfare, and activation paradigms. The value of the typology lies in its utility for characterizing the ideational orientation of social assistance regimes. Specifically, the typology provides a yardstick for measuring the ideas of policy actors with respect to social assistance and can facilitate the conduct of case studies, comparative research, and causal analyses on this policy sector.

  3. Technical Update: Preimplantation Genetic Diagnosis and Screening.

    Science.gov (United States)

    Dahdouh, Elias M; Balayla, Jacques; Audibert, François; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Campagnolo, Carla; Carroll, June; Chong, Karen; Gagnon, Alain; Johnson, Jo-Ann; MacDonald, William; Okun, Nanette; Pastuck, Melanie; Vallée-Pouliot, Karine

    2015-05-01

    To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Discussion about the genetic and technical aspects of preimplantation reproductive techniques, particularly those using new cytogenetic technologies and embryo-stage biopsy. Clinical outcomes of reproductive techniques following the use of PGD and PGS are included. This update does not discuss in detail the adverse outcomes that have been recorded in association with assisted reproductive technologies. Published literature was retrieved through searches of The Cochrane Library and Medline in April 2014 using appropriate controlled vocabulary (aneuploidy, blastocyst/physiology, genetic diseases, preimplantation diagnosis/methods, fertilization in vitro) and key words (e.g., preimplantation genetic diagnosis, preimplantation genetic screening, comprehensive chromosome screening, aCGH, SNP microarray, qPCR, and embryo selection). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies published from 1990 to April 2014. There were no language restrictions. Searches were updated on a regular basis and incorporated in the update to January 2015. Additional publications were identified from the bibliographies of retrieved articles. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. (Table 1) BENEFITS, HARMS, AND COSTS: This update will educate readers about new preimplantation genetic concepts, directions, and technologies. The major harms and costs identified are those of assisted reproductive

  4. Comparison of Model Reliabilities from Single-Step and Bivariate Blending Methods

    DEFF Research Database (Denmark)

    Taskinen, Matti; Mäntysaari, Esa; Lidauer, Martin

    2013-01-01

    Model based reliabilities in genetic evaluation are compared between three methods: animal model BLUP, single-step BLUP, and bivariate blending after genomic BLUP. The original bivariate blending is revised in this work to better account animal models. The study data is extracted from...... be calculated. Model reliabilities by the single-step and the bivariate blending methods were higher than by animal model due to genomic information. Compared to the single-step method, the bivariate blending method reliability estimates were, in general, lower. Computationally bivariate blending method was......, on the other hand, lighter than the single-step method....

  5. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  6. Computer assisted procedure maintenance

    International Nuclear Information System (INIS)

    Bisio, R.; Hulsund, J. E.; Nilsen, S.

    2004-04-01

    The maintenance of operating procedures in a NPP is a tedious and complicated task. Through the whole life cycle of the procedures they will be dynamic, 'living' documents. Several aspects of the procedure must be considered in a revision process. Pertinent details and attributes of the procedure must be checked. An organizational structure must be created and responsibilities allotted for drafting, revising, reviewing and publishing procedures. Available powerful computer technology provides solutions within document management and computerisation of procedures. These solutions can also support the maintenance of procedures. Not all parts of the procedure life cycle are equally amenable to computerized support. This report looks at the procedure life cycle in todays NPPs and discusses the possibilities associated with introduction of computer technology to assist the maintenance of procedures. (Author)

  7. Training assessments and assistance

    International Nuclear Information System (INIS)

    Przybylski, J.L.

    1994-07-01

    The Transportation Management Division, Office of Environmental Restoration and Waste Management (TMD/EM-261), United States Department of Energy (DOE), Training Program Manager has established an independent Training Assessment Program, the intent of which is to evaluate, exclusively, transportation and packaging training activities throughout the Department of Energy (DOE) community. The results generated from an application of the Training Assessment Program are intended to be utilized as a management tool for maintaining compliance with applicable regulatory-driven training requirements. In addition, the Transportation Assessment Program can be employed to evaluate training methodologies and, through a pre-arranged, cooperative, technical assistance effort, provide each Department of Energy (DOE) site with the means necessary to enhance it's overall transportation and packaging training capabilities

  8. Machine assisted histogram classification

    Science.gov (United States)

    Benyó, B.; Gaspar, C.; Somogyi, P.

    2010-04-01

    LHCb is one of the four major experiments under completion at the Large Hadron Collider (LHC). Monitoring the quality of the acquired data is important, because it allows the verification of the detector performance. Anomalies, such as missing values or unexpected distributions can be indicators of a malfunctioning detector, resulting in poor data quality. Spotting faulty or ageing components can be either done visually using instruments, such as the LHCb Histogram Presenter, or with the help of automated tools. In order to assist detector experts in handling the vast monitoring information resulting from the sheer size of the detector, we propose a graph based clustering tool combined with machine learning algorithm and demonstrate its use by processing histograms representing 2D hitmaps events. We prove the concept by detecting ion feedback events in the LHCb experiment's RICH subdetector.

  9. Machine assisted histogram classification

    Energy Technology Data Exchange (ETDEWEB)

    Benyo, B; Somogyi, P [BME-IIT, H-1117 Budapest, Magyar tudosok koerutja 2. (Hungary); Gaspar, C, E-mail: Peter.Somogyi@cern.c [CERN-PH, CH-1211 Geneve 23 (Switzerland)

    2010-04-01

    LHCb is one of the four major experiments under completion at the Large Hadron Collider (LHC). Monitoring the quality of the acquired data is important, because it allows the verification of the detector performance. Anomalies, such as missing values or unexpected distributions can be indicators of a malfunctioning detector, resulting in poor data quality. Spotting faulty or ageing components can be either done visually using instruments, such as the LHCb Histogram Presenter, or with the help of automated tools. In order to assist detector experts in handling the vast monitoring information resulting from the sheer size of the detector, we propose a graph based clustering tool combined with machine learning algorithm and demonstrate its use by processing histograms representing 2D hitmaps events. We prove the concept by detecting ion feedback events in the LHCb experiment's RICH subdetector.

  10. Pregnancy outcomes after assisted human reproduction.

    Science.gov (United States)

    Okun, Nanette; Sierra, Sony

    2014-01-01

    prognosis (with subsequent use of cryopreserved embryos as necessary), and may reassure women who are considering in vitro fertilization. (II-2A) 8. Women and couples considering assisted human reproduction and concerned about perinatal outcomes in singleton pregnancies should be advised that (1) intracytoplasmic sperm injection does not appear to confer increased adverse perinatal or maternal risk over standard in vitro fertilization, and (2) the use of donor oocytes increases successful pregnancy rates in selected women, but even when accounting for maternal age, can increase the risks of low birth weight and preeclampsia. (II-2B) 9. Any assisted reproductive technology procedure should be prefaced by a discussion of fetal outcomes and the slight increase in the risk of congenital structural abnormalities, with emphasis on known confounding factors such as infertility and body mass index. (II-2B) 10. In pregnancies achieved by artificial reproductive technology, routine anatomic ultrasound for congenital structural abnormalities is recommended between 18 and 22 weeks. (II-2A) 11. Pregnancies conceived by intracytoplasmic sperm injection may be at increased risk of chromosomal aberrations, including sex chromosome abnormalities. Diagnostic testing should be offered after appropriate counselling. (II-2A) 12. The possible increased risk for late onset cancer due to gene dysregulation for tumour suppression requires more long-term follow-up before the true risk can be determined. (III-A) 13. The clinical application of preimplantation genetic testing in fertile couples must balance the benefits of avoiding disease transmission with the medical risks and financial burden of in vitro fertilization. (III-B) 14. Preimplantation screening for aneuploidy is associated with inconsistent findings for improving pregnancy outcomes. Any discussion of preimplantation genetic screening with patients should clarify that there is no adequate information on the long-term effect of embryo

  11. Heteronuclear proton assisted recoupling

    Science.gov (United States)

    De Paëpe, Gaël; Lewandowski, Józef R.; Loquet, Antoine; Eddy, Matt; Megy, Simon; Böckmann, Anja; Griffin, Robert G.

    2011-03-01

    We describe a theoretical framework for understanding the heteronuclear version of the third spin assisted recoupling polarization transfer mechanism and demonstrate its potential for detecting long-distance intramolecular and intermolecular 15N-13C contacts in biomolecular systems. The pulse sequence, proton assisted insensitive nuclei cross polarization (PAIN-CP) relies on a cross term between 1H-15N and 1H-13C dipolar couplings to mediate zero- and/or double-quantum 15N-13C recoupling. In particular, using average Hamiltonian theory we derive effective Hamiltonians for PAIN-CP and show that the transfer is mediated by trilinear terms of the form N±C∓Hz (ZQ) or N±C±Hz (DQ) depending on the rf field strengths employed. We use analytical and numerical simulations to explain the structure of the PAIN-CP optimization maps and to delineate the appropriate matching conditions. We also detail the dependence of the PAIN-CP polarization transfer with respect to local molecular geometry and explain the observed reduction in dipolar truncation. In addition, we demonstrate the utility of PAIN-CP in structural studies with 15N-13C spectra of two uniformly 13C,15N labeled model microcrystalline proteins—GB1, a 56 amino acid peptide, and Crh, a 85 amino acid domain swapped dimer (MW = 2 × 10.4 kDa). The spectra acquired at high magic angle spinning frequencies (ωr/2π > 20 kHz) and magnetic fields (ω0H/2π = 700-900 MHz) using moderate rf fields, yield multiple long-distance intramonomer and intermonomer 15N-13C contacts. We use these distance restraints, in combination with the available x-ray structure as a homology model, to perform a calculation of the monomer subunit of the Crh protein.

  12. Fragmentation reduces regional-scale spatial genetic structure in a wind-pollinated tree because genetic barriers are removed.

    Science.gov (United States)

    Wang, Rong; Compton, Stephen G; Shi, Yi-Su; Chen, Xiao-Yong

    2012-09-01

    Gene flow strongly influences the regional genetic structuring of plant populations. Seed and pollen dispersal patterns can respond differently to the increased isolation resulting from habitat fragmentation, with unpredictable consequences for gene flow and population structuring. In a recently fragmented landscape we compared the pre- and post-fragmentation genetic structure of populations of a tree species where pollen and seed dispersal respond differentially to forest fragmentation generated by flooding. Castanopsis sclerophylla is wind-pollinated, with seeds that are dispersed by gravity and rodents. Using microsatellites, we found no significant difference in genetic diversity between pre- and post-fragmentation cohorts. Significant genetic structure was observed in pre-fragmentation cohorts, due to an unknown genetic barrier that had isolated one small population. Among post-fragmentation cohorts this genetic barrier had disappeared and genetic structure was significantly weakened. The strengths of genetic structuring were at a similar level in both cohorts, suggesting that overall gene flow of C. sclerophylla has been unchanged by fragmentation at the regional scale. Fragmentation has blocked seed dispersal among habitats, but this appears to have been compensated for by enhanced pollen dispersal, as indicated by the disappearance of a genetic barrier, probably as a result of increased wind speeds and easier pollen movement over water. Extensive pollen flow can counteract some negative effects of fragmentation and assist the long-term persistence of small remnant populations.

  13. Genomics-assisted breeding in fruit trees.

    Science.gov (United States)

    Iwata, Hiroyoshi; Minamikawa, Mai F; Kajiya-Kanegae, Hiromi; Ishimori, Motoyuki; Hayashi, Takeshi

    2016-01-01

    Recent advancements in genomic analysis technologies have opened up new avenues to promote the efficiency of plant breeding. Novel genomics-based approaches for plant breeding and genetics research, such as genome-wide association studies (GWAS) and genomic selection (GS), are useful, especially in fruit tree breeding. The breeding of fruit trees is hindered by their long generation time, large plant size, long juvenile phase, and the necessity to wait for the physiological maturity of the plant to assess the marketable product (fruit). In this article, we describe the potential of genomics-assisted breeding, which uses these novel genomics-based approaches, to break through these barriers in conventional fruit tree breeding. We first introduce the molecular marker systems and whole-genome sequence data that are available for fruit tree breeding. Next we introduce the statistical methods for biparental linkage and quantitative trait locus (QTL) mapping as well as GWAS and GS. We then review QTL mapping, GWAS, and GS studies conducted on fruit trees. We also review novel technologies for rapid generation advancement. Finally, we note the future prospects of genomics-assisted fruit tree breeding and problems that need to be overcome in the breeding.

  14. [Criminal code and assisted human reproduction].

    Science.gov (United States)

    Cortés Bechiarelli, Emilio

    2009-01-01

    The Spanish Criminal Code punishes in the article 161 the crime of assisted reproduction of the woman without her assent as a form of crime relative to the genetic manipulation. The crime protects a specific area of the freedom of decision of the woman, which is the one that she has dealing with the right to the procreation at the moment of being fertilized. The sentence would include the damages to the health provoked by the birth or the abortion. The crime is a common one--everyone can commit it--and it is not required a result of pregnancy, but it is consumed by the mere intervention on the body of the woman, and its interpretation is contained on the Law 14/2006, of may 26, on technologies of human assisted reproduction. The aim of the work is to propose to consider valid the assent given by the sixteen-year-old women (and older) in coherence with the Project of Law about sexual and reproductive health and voluntary interruption of the pregnancy that is studied at this moment, in Spain, in order to harmonize the legal systems.

  15. Variabilidade genética para caracteres morfométricos de matrizes de castanha-do-brasil da Amazônia Mato-grossense Genetic variability for morphometric characteristics in brazilian nut parent trees from northern Mato Grosso, Amazon rain forest

    Directory of Open Access Journals (Sweden)

    Flora Ferreira Camargo

    2010-12-01

    Full Text Available O presente estudo objetivou estudar a variabilidade genética de matrizes de Bertholletia excelsa através da estimação de parâmetros e ganhos genéticos para os caracteres peso/ouriço (g, peso de sementes/ouriço (g e número de sementes/ouriço no pré-melhoramento da espécie. Foram utilizadas 90 matrizes de polinização aberta, sendo 30 matrizes de cada tipo, denominadas localmente de rajada, mirim e rosa, no município de Cotriguaçu, noroeste de Mato Grosso, região amazônica. O experimento foi estabelecido sob delineamento inteiramente ao acaso, com 90 tratamentos (matrizes e seis ouriços por matriz, com suas respectivas sementes. As variáveis foram analisadas usando-se a metodologia de modelo linear misto do software SELEGEN-REML/BLUP. Os coeficientes de herdabilidades individuais no sentido amplo dos efeitos genotípicos totais (0,21, 0,14 e 0,34 para os caracteres peso/ouriço (g, peso de sementes/ouriço (g e número de sementes/ouriço, respectivamente, são considerados moderados para os dois primeiros caracteres e alto para o caráter número de sementes/ouriço, sugerindo expressivo controle genético. A seleção das 10 melhores matrizes revelou predominância da procedência do tipo rosa, proporcionando ganhos genéticos expressivos de pelo menos 24,16% para peso/ouriço (g, 27,44% para peso de sementes/ouriço e 16,92% para o caráter número de sementes por ouriço. Os valores expressivos das matrizes do tipo rosa estimulam a utilização desses germoplasmas em programas de melhoramento genético da espécie, na seqüência das avaliações, bem como apontando para a possibilidade de obtenção de híbridos intraespecíficos para caracteres desejáveis.The goal of the study was to detect genetic variability in Brazilian nuts parent trees through parameters estimation and genetic gains for the following indexes: fruit weight (g seed weight per fruit (g and number of seeds per fruit at species pre-improvement. Ninety (90

  16. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  17. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  18. The Ethics of Assisted Suicide.

    Science.gov (United States)

    Callahan, Jay

    1994-01-01

    From social work perspective, considers ethics of assisted suicide. Discusses traditional social work value of client self-determination and identifies tensions in this ideal and conflicts with value of client well-being. Finds assisted suicide unethical, arguing that studies have shown judgment of most suicidal people to be impaired as result of…

  19. Assistive and Rehabilitation Robotic System

    Directory of Open Access Journals (Sweden)

    Adrian Abrudean

    2015-06-01

    Full Text Available A short introduction concerning the content of Assistive Technology and Rehabilitation Engineering is followed by a study of robotic systems which combine two or more assistive functions. Based on biomechanical aspects, a complex robotic system is presented, starting with the study of functionality and ending with the practical aspects of the prototype development.

  20. Computer Assisted Advising Tool (CAAT).

    Science.gov (United States)

    Matsen, Marie E.

    Lane Community College's Computer Assisted Advising Tool (CAAT) is used by counselors to assist students in developing a plan for the completion of a degree or certificate. CAAT was designed to facilitate student advisement from matriculation to graduation by comparing degree requirements with the courses completed by students. Three major sources…

  1. Assisted inflation from geometric tachyon

    International Nuclear Information System (INIS)

    Panigrahi, Kamal L.; Singh, Harvendra

    2007-01-01

    We study the effect of rolling of N D3-branes in the vicinity of NS5-branes. We find out that this system coupled with the four dimensional gravity gives the slow roll assisted inflation of the scalar field theory. Once again this expectation is exactly similar to that of N-tachyon assisted inflation on unstable D-branes

  2. Machine learning applications in genetics and genomics.

    Science.gov (United States)

    Libbrecht, Maxwell W; Noble, William Stafford

    2015-06-01

    The field of machine learning, which aims to develop computer algorithms that improve with experience, holds promise to enable computers to assist humans in the analysis of large, complex data sets. Here, we provide an overview of machine learning applications for the analysis of genome sequencing data sets, including the annotation of sequence elements and epigenetic, proteomic or metabolomic data. We present considerations and recurrent challenges in the application of supervised, semi-supervised and unsupervised machine learning methods, as well as of generative and discriminative modelling approaches. We provide general guidelines to assist in the selection of these machine learning methods and their practical application for the analysis of genetic and genomic data sets.

  3. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

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

  4. Computer Assisted Audit Techniques

    Directory of Open Access Journals (Sweden)

    Eugenia Iancu

    2007-01-01

    Full Text Available From the modern point of view, audit takes intoaccount especially the information systems representingmainly the examination performed by a professional asregards the manner for developing an activity by means ofcomparing it to the quality criteria specific to this activity.Having as reference point this very general definition ofauditing, it must be emphasized that the best known segmentof auditing is the financial audit that had a parallel evolutionto the accountancy one.The present day phase of developing the financial audithas as main trait the internationalization of the accountantprofessional. World wide there are multinational companiesthat offer services in the financial auditing, taxing andconsultancy domain. The auditors, natural persons and auditcompanies, take part at the works of the national andinternational authorities for setting out norms in theaccountancy and auditing domain.The computer assisted audit techniques can be classified inseveral manners according to the approaches used by theauditor. The most well-known techniques are comprised inthe following categories: testing data techniques, integratedtest, parallel simulation, revising the program logics,programs developed upon request, generalized auditsoftware, utility programs and expert systems.

  5. Nanoparticle-Assisted Metabolomics

    Directory of Open Access Journals (Sweden)

    Bo Zhang

    2018-03-01

    Full Text Available Understanding and harnessing the interactions between nanoparticles and biological molecules is at the forefront of applications of nanotechnology to modern biology. Metabolomics has emerged as a prominent player in systems biology as a complement to genomics, transcriptomics and proteomics. Its focus is the systematic study of metabolite identities and concentration changes in living systems. Despite significant progress over the recent past, important challenges in metabolomics remain, such as the deconvolution of the spectra of complex mixtures with strong overlaps, the sensitive detection of metabolites at low abundance, unambiguous identification of known metabolites, structure determination of unknown metabolites and standardized sample preparation for quantitative comparisons. Recent research has demonstrated that some of these challenges can be substantially alleviated with the help of nanoscience. Nanoparticles in particular have found applications in various areas of bioanalytical chemistry and metabolomics. Their chemical surface properties and increased surface-to-volume ratio endows them with a broad range of binding affinities to biomacromolecules and metabolites. The specific interactions of nanoparticles with metabolites or biomacromolecules help, for example, simplify metabolomics spectra, improve the ionization efficiency for mass spectrometry or reveal relationships between spectral signals that belong to the same molecule. Lessons learned from nanoparticle-assisted metabolomics may also benefit other emerging areas, such as nanotoxicity and nanopharmaceutics.

  6. Genetics of mitochondrial dysfunction and infertility.

    Science.gov (United States)

    Demain, L A M; Conway, G S; Newman, W G

    2017-02-01

    Increasingly, mitochondria are being recognized as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be underreported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation. Studies on populations with genetically uncharacterized infertility have highlighted an association with mitochondrial DNA deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Preimplantation Genetic Diagnosis for Stargardt Disease

    Science.gov (United States)

    Sohrab, Mahsa A.; Allikmets, Rando; Guarnaccia, Michael M.; Smith, R. Theodore

    2010-01-01

    Purpose To report the first use of in vitro fertilization (IVF) and preimplantation genetic diagnosis to achieve an unaffected pregnancy in an autosomal-recessive retinal dystrophy. Design Case report. Methods An affected male with Stargardt disease and his carrier wife underwent IVF. Embryos obtained by intracytoplasmic sperm injection underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of ABCA4 mutant alleles. Embryos were diagnosed as being either affected by or carriers for Stargardt disease. A single carrier embryo was implanted. Results Chorionic villus sampling performed during the first trimester verified that the fetus possessed only one mutant paternal allele and one normal maternal allele, thus making her an unaffected carrier of the disease. A healthy, live-born female was delivered. Conclusion IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child. PMID:20149343

  8. A CAL Program to Teach the Basic Principles of Genetic Engineering--A Change from the Traditional Approach.

    Science.gov (United States)

    Dewhurst, D. G.; And Others

    1989-01-01

    An interactive computer-assisted learning program written for the BBC microcomputer to teach the basic principles of genetic engineering is described. Discussed are the hardware requirements software, use of the program, and assessment. (Author/CW)

  9. Genetic Testing Registry

    Science.gov (United States)

    ... RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing ... ProtMap HomoloGene Protein Clusters All Homology Resources... Literature Bookshelf E-Utilities Journals in NCBI Databases MeSH Database ...

  10. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  11. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  12. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... ome/transcriptome/proteome, experimental induced maps that are intentionally designed and con- ... genetic maps imposed their application in nearly all fields of medical genetics including ..... or genes located adjacent to, or near, them. ...... types of markers, e.g., clinical markers (eye color), genomic.

  13. Ancestry Testing and the Practice of Genetic Counseling.

    Science.gov (United States)

    Kirkpatrick, Brianne E; Rashkin, Misha D

    2017-02-01

    Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.

  14. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  15. Genetic testing in congenital heart disease: A clinical approach

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  16. The genetic truth of surrogate parentage.

    Science.gov (United States)

    Goswami, Gajendra K

    2015-12-01

    Old family laws presume that the husband is the father of any child born to a married couple; a socio-legal fiction. A social and biological father is presumed to be one and the same. The cocoon of legitimacy protects marriage but the child born outside valid marriage is recognised as 'illegitimate'. Assisted reproduction technologies strengthened reproductive rights but confuse purity of lineage and genetically divorce socio-legal parentage from biological parentage. The lesbian, gay, bisexual, and transgender reproductive rights, surrogacy, gamete donation, delayed pregnancies using cryopreserved embryos, single parentage, virgin mothers (virgin birth), live-in relationship are increasingly recognised under the cover of human dignity but obscure parentage. In contrast to parental rights of reproductive autonomy, equity demands the child's right to know its biological parentage, recognised under Article 7 of the UN Convention on the Rights of the Child, 1989. DNA profiling may clarify the genetic parentage with virtual certainty but with multiple limitations. DNA forensics ascertains the genetic makeup of a child linking putative parents irrespective of any social relationship between them. The right to know biological linkages gained paramount significance in cases like displacement, adoption, child trafficking and variants of cross-genetic in vitro fertilization including complete surrogacy. The 'reproductive tourism' promotes crossing borders and bodies, enabling conception in the countries with extreme religious and legal barriers. © The Author(s) 2015.

  17. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  18. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  19. Genetic improvement of vegetables

    International Nuclear Information System (INIS)

    Jaramillo Vasquez, J.G.

    2001-01-01

    Some genetic bases of the improvement of vegetables are given. The objectives of the genetic improvement and the fundamental stages of this process are done. The sources of genetic variation are indicated and they are related the reproduction systems of the main horticultural species. It is analyzed the concept of genetic inheritance like base to determine the procedures more appropriate of improvement. The approaches are discussed, has more than enough phenotypic value, genetic action and genotypic variance; Equally the heredability concepts and value of improvement. The conventional methods of improvement are described, like they are: the introduction of species or varieties, the selection, the pure line, the pedigree method, the selection for families, the recurrent selection, the selection for unique seed, the haploids method, the selection for heterosis and the synthetic varieties

  20. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics.......Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...

  1. Dairy cattle evaluation using BLUP is just being implemented in Kenya

    African Journals Online (AJOL)

    kainga

    172 environment correlation and methods of feeding concentrates (Brotherstone & Hill, 1986). A more effective management would elicit higher performance and greater variability within a production environment. (Boldman & Freeman, 1990; Naya et al., 2002; Raffrenato et al., 2003). Table 1 Mean and standard deviation ...

  2. Stabilized determination of geopotential coefficients by the mixed hom-BLUP approach

    Science.gov (United States)

    Middel, B.; Schaffrin, B.

    1989-01-01

    For the determination of geopotential coefficients, data can be used from rather different sources, e.g., satellite tracking, gravimetry, or altimetry. As each data type is particularly sensitive to certain wavelengths of the spherical harmonic coefficients it is of essential importance how they are treated in a combination solution. For example the longer wavelengths are well described by the coefficients of a model derived by satellite tracking, while other observation types such as gravity anomalies, delta g, and geoid heights, N, from altimetry contain only poor information for these long wavelengths. Therefore, the lower coefficients of the satellite model should be treated as being superior in the combination. In the combination a new method is presented which turns out to be highly suitable for this purpose due to its great flexibility combined with robustness.

  3. Exoskeleton plantarflexion assistance for elderly.

    Science.gov (United States)

    Galle, S; Derave, W; Bossuyt, F; Calders, P; Malcolm, P; De Clercq, D

    2017-02-01

    Elderly are confronted with reduced physical capabilities and increased metabolic energy cost of walking. Exoskeletons that assist walking have the potential to restore walking capacity by reducing the metabolic cost of walking. However, it is unclear if current exoskeletons can reduce energy cost in elderly. Our goal was to study the effect of an exoskeleton that assists plantarflexion during push-off on the metabolic energy cost of walking in physically active and healthy elderly. Seven elderly (age 69.3±3.5y) walked on treadmill (1.11ms 2 ) with normal shoes and with the exoskeleton both powered (with assistance) and powered-off (without assistance). After 20min of habituation on a prior day and 5min on the test day, subjects were able to walk with the exoskeleton and assistance of the exoskeleton resulted in a reduction in metabolic cost of 12% versus walking with the exoskeleton powered-off. Walking with the exoskeleton was perceived less fatiguing for the muscles compared to normal walking. Assistance resulted in a statistically nonsignificant reduction in metabolic cost of 4% versus walking with normal shoes, likely due to the penalty of wearing the exoskeleton powered-off. Also, exoskeleton mechanical power was relatively low compared to previously identified optimal assistance magnitude in young adults. Future exoskeleton research should focus on further optimizing exoskeleton assistance for specific populations and on considerate integration of exoskeletons in rehabilitation or in daily life. As such, exoskeletons should allow people to walk longer or faster than without assistance and could result in an increase in physical activity and resulting health benefits. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Development of mechanical brake assist; Mechanical brake assist no kaihatsu

    Energy Technology Data Exchange (ETDEWEB)

    Konishi, M; Shingyoji, S; Nakamura, I; Tagawa, T; Saito, Y; Ishihara, T; Kobayashi, S; Yoshida, M [Nissan Motor Co. Ltd., Tokyo (Japan)

    1997-10-01

    We have recognized that there are drivers who cannot apply strong brake pedal force , in spite of the necessity of hard braking in emergencies. We have developed a `mechanical brake assist system` which assists drivers appropriately, according to the drivers` characteristics based on studying the characteristic`s of conditions of drivers applying the brake pedal force in emergency conditions. 2 refs., 7 figs., 1 tab.

  5. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

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

  6. Genomic selection and association mapping in rice (Oryza sativa): effect of trait genetic architecture, training population composition, marker number and statistical model on accuracy of rice genomic selection in elite, tropical rice breeding lines.

    Science.gov (United States)

    Spindel, Jennifer; Begum, Hasina; Akdemir, Deniz; Virk, Parminder; Collard, Bertrand; Redoña, Edilberto; Atlin, Gary; Jannink, Jean-Luc; McCouch, Susan R

    2015-02-01

    Genomic Selection (GS) is a new breeding method in which genome-wide markers are used to predict the breeding value of individuals in a breeding population. GS has been shown to improve breeding efficiency in dairy cattle and several crop plant species, and here we evaluate for the first time its efficacy for breeding inbred lines of rice. We performed a genome-wide association study (GWAS) in conjunction with five-fold GS cross-validation on a population of 363 elite breeding lines from the International Rice Research Institute's (IRRI) irrigated rice breeding program and herein report the GS results. The population was genotyped with 73,147 markers using genotyping-by-sequencing. The training population, statistical method used to build the GS model, number of markers, and trait were varied to determine their effect on prediction accuracy. For all three traits, genomic prediction models outperformed prediction based on pedigree records alone. Prediction accuracies ranged from 0.31 and 0.34 for grain yield and plant height to 0.63 for flowering time. Analyses using subsets of the full marker set suggest that using one marker every 0.2 cM is sufficient for genomic selection in this collection of rice breeding materials. RR-BLUP was the best performing statistical method for grain yield where no large effect QTL were detected by GWAS, while for flowering time, where a single very large effect QTL was detected, the non-GS multiple linear regression method outperformed GS models. For plant height, in which four mid-sized QTL were identified by GWAS, random forest produced the most consistently accurate GS models. Our results suggest that GS, informed by GWAS interpretations of genetic architecture and population structure, could become an effective tool for increasing the efficiency of rice breeding as the costs of genotyping continue to decline.

  7. Genomic selection and association mapping in rice (Oryza sativa: effect of trait genetic architecture, training population composition, marker number and statistical model on accuracy of rice genomic selection in elite, tropical rice breeding lines.

    Directory of Open Access Journals (Sweden)

    Jennifer Spindel

    2015-02-01

    Full Text Available Genomic Selection (GS is a new breeding method in which genome-wide markers are used to predict the breeding value of individuals in a breeding population. GS has been shown to improve breeding efficiency in dairy cattle and several crop plant species, and here we evaluate for the first time its efficacy for breeding inbred lines of rice. We performed a genome-wide association study (GWAS in conjunction with five-fold GS cross-validation on a population of 363 elite breeding lines from the International Rice Research Institute's (IRRI irrigated rice breeding program and herein report the GS results. The population was genotyped with 73,147 markers using genotyping-by-sequencing. The training population, statistical method used to build the GS model, number of markers, and trait were varied to determine their effect on prediction accuracy. For all three traits, genomic prediction models outperformed prediction based on pedigree records alone. Prediction accuracies ranged from 0.31 and 0.34 for grain yield and plant height to 0.63 for flowering time. Analyses using subsets of the full marker set suggest that using one marker every 0.2 cM is sufficient for genomic selection in this collection of rice breeding materials. RR-BLUP was the best performing statistical method for grain yield where no large effect QTL were detected by GWAS, while for flowering time, where a single very large effect QTL was detected, the non-GS multiple linear regression method outperformed GS models. For plant height, in which four mid-sized QTL were identified by GWAS, random forest produced the most consistently accurate GS models. Our results suggest that GS, informed by GWAS interpretations of genetic architecture and population structure, could become an effective tool for increasing the efficiency of rice breeding as the costs of genotyping continue to decline.

  8. Genomic Selection and Association Mapping in Rice (Oryza sativa): Effect of Trait Genetic Architecture, Training Population Composition, Marker Number and Statistical Model on Accuracy of Rice Genomic Selection in Elite, Tropical Rice Breeding Lines

    Science.gov (United States)

    Spindel, Jennifer; Begum, Hasina; Akdemir, Deniz; Virk, Parminder; Collard, Bertrand; Redoña, Edilberto; Atlin, Gary; Jannink, Jean-Luc; McCouch, Susan R.

    2015-01-01

    Genomic Selection (GS) is a new breeding method in which genome-wide markers are used to predict the breeding value of individuals in a breeding population. GS has been shown to improve breeding efficiency in dairy cattle and several crop plant species, and here we evaluate for the first time its efficacy for breeding inbred lines of rice. We performed a genome-wide association study (GWAS) in conjunction with five-fold GS cross-validation on a population of 363 elite breeding lines from the International Rice Research Institute's (IRRI) irrigated rice breeding program and herein report the GS results. The population was genotyped with 73,147 markers using genotyping-by-sequencing. The training population, statistical method used to build the GS model, number of markers, and trait were varied to determine their effect on prediction accuracy. For all three traits, genomic prediction models outperformed prediction based on pedigree records alone. Prediction accuracies ranged from 0.31 and 0.34 for grain yield and plant height to 0.63 for flowering time. Analyses using subsets of the full marker set suggest that using one marker every 0.2 cM is sufficient for genomic selection in this collection of rice breeding materials. RR-BLUP was the best performing statistical method for grain yield where no large effect QTL were detected by GWAS, while for flowering time, where a single very large effect QTL was detected, the non-GS multiple linear regression method outperformed GS models. For plant height, in which four mid-sized QTL were identified by GWAS, random forest produced the most consistently accurate GS models. Our results suggest that GS, informed by GWAS interpretations of genetic architecture and population structure, could become an effective tool for increasing the efficiency of rice breeding as the costs of genotyping continue to decline. PMID:25689273

  9. Strategies, limitations and opportunities for marker-assisted selection in livestock

    International Nuclear Information System (INIS)

    Dekkers, J.C.M.; Werf, H.J. van der

    2007-01-01

    This chapter reviews the principles, opportunities and limitations for detection of quantitative trait loci (QTL) in livestock and for their use in genetic improvement programmes. Alternate strategies for QTL detection are discussed, as are methods for inclusion of marker and QTL information in genetic evaluation. Practical issues regarding implementation of marker-assisted selection (MAS) for selection in breed crosses and for selection within breeds are described, along with likely routes towards achieving that goal. Opportunities and challenges are also discussed for the use of molecular information for genetic improvement of livestock in developing countries. (author)

  10. Genetic variation and its maintenance

    International Nuclear Information System (INIS)

    Roberts, D.F.; De Stefano, G.F.

    1986-01-01

    This book contains several papers divided among three sections. The section titles are: Genetic Diversity--Its Dimensions; Genetic Diversity--Its Origin and Maintenance; and Genetic Diversity--Applications and Problems of Complex Characters

  11. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

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

  12. Genetic heterogeneity of retinitis pigmentosa

    OpenAIRE

    Hartono, Hartono

    2015-01-01

    Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...

  13. FEMA Housing Assistance Renters - API

    Data.gov (United States)

    Department of Homeland Security — This dataset lists aggregated, non-PII dataset of FEMA Housing Assistance Program for House Renters The data was generated by FEMA's ECIM (Enterprise Coordination...

  14. Radiological Assistance Program (RAP) Regions

    Data.gov (United States)

    Department of Homeland Security — The U.S. Department of Energy (DOE) created the Radiological Assistance Program (RAP) in the 1950s to make DOE resources and expertise available to organizations...

  15. Technical Assistance Needs Assessments (TANAs)

    Science.gov (United States)

    The Technical Assistance Needs Assessment (TANA) is a process to identify whether a community requires additional support from EPA in order to understand technical information and have meaningful participation in the Superfund decision-making process.

  16. Computer assisted holographic moire contouring

    Science.gov (United States)

    Sciammarella, Cesar A.

    2000-01-01

    Theoretical analyses and experimental results on holographic moire contouring on diffusely reflecting objects are presented. The sensitivity and limitations of the method are discussed. Particular emphasis is put on computer-assisted data retrieval, processing, and recording.

  17. Multifamily Assistance Section 8 Contracts

    Data.gov (United States)

    Department of Housing and Urban Development — he information regarding the Multifamily Assistance and Section 8 contracts, and properties is being furnished for the convenience of interested parties. The...

  18. FEMA Housing Assistance Owners - API

    Data.gov (United States)

    Department of Homeland Security — This dataset lists aggregated, non-PII dataset of FEMA Housing Assistance Program for House Owners The data was generated by FEMA's ECIM (Enterprise Coordination...

  19. Epigenetics and assisted reproductive technologies

    DEFF Research Database (Denmark)

    Pinborg, Anja; Loft, Anne; Romundstad, Liv Bente

    2016-01-01

    Epigenetic modification controls gene activity without changes in the DNA sequence. The genome undergoes several phases of epigenetic programming during gametogenesis and early embryo development coinciding with assisted reproductive technologies (ART) treatments. Imprinting disorders have been...

  20. Hand-assisted laparoscopic splenectomy

    NARCIS (Netherlands)

    Bemelman, W. A.; de Wit, L. T.; Busch, O. R.; Gouma, D. J.

    2000-01-01

    Laparoscopic splenectomy is performed routinely in patients with small and moderately enlarged spleens at specialized centers. Large spleens are difficult to handle laparoscopically and hand-assisted laparoscopic splenectomy might facilitate the procedure through enhanced vascular control, easier

  1. Augmented collar for assistance dog

    OpenAIRE

    Lemasson , Germain; Lucidarme , Philippe; Pesty , Sylvie; Duhaut , Dominique

    2014-01-01

    In this paper we present briefly our reflexion on how to communicate with a dog using embedded devices. We also present the prototype collar we made in order to improve the communication between an assistance dog and his disabled master.

  2. Implementing an Employee Assistance Program.

    Science.gov (United States)

    Gam, John; And Others

    1983-01-01

    Describes in detail the implementation of an employee assistance program in a textile plant. Reviews the historical development, referral process, and termination guidelines of the program and contains descriptive statistics for six periods of the program's operation. (Author/JAC)

  3. Genetic effects of radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    1977-01-01

    Many of the most important findings concerning the genetic effects of radiation have been obtained in the Biology Division of Oak Ridge National Laboratory. The paper focuses on some of the major discoveries made in the Biology Division and on a new method of research that assesses damage to the skeletons of mice whose fathers were irradiated. The results discussed have considerable influence upon estimates of genetic risk in humans from radiation, and an attempt is made to put the estimated amount of genetic damage caused by projected nuclear power development into its proper perspective

  4. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  5. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    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 statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  6. Daily Public Assistance Grants Award Activity

    Data.gov (United States)

    Department of Homeland Security — Daily activity of Public Assistance Grant Awards, including FEMA Region, State, Disaster Declaration Number, Event description, Mission Assigned agency, Assistance...

  7. [Active euthanasia, or assisted suicide?

    Science.gov (United States)

    Julesz, Máté

    2016-10-01

    Both active euthanasia and assisted suicide are legal in The Netherlands, Belgium, Luxemburg and, most recently, in Canada. Examination of national legislations of countries where both active euthanasia and assisted suicide are legal. The number of accomplished active euthanasia cases and that of assisted suicide cases. Analysis of national statistical data. Comparison of statistical data before and after 2010. Comparison of the related practices in the surveyed countries. The number of active euthanasia cases markedly predominates over the number of assisted suicide cases. Cancer is a main reason for active euthanasia, or assisted suicide. In countries with a larger population, the number of active euthanasia cases is higher than that in countries with a smaller population. Regarding the fact that the applicants for active euthanasia withdraw their requests in a smaller number than the applicants for assisted suicide, patients prefer the choice of active euthanasia. Since the related legislative product is too recent in Canada at present, it may be only presumed that a certain preference will also develop in the related practices in Canada. Orv. Hetil., 2016, 157(40), 1595-1600.

  8. Robot-assisted general surgery.

    Science.gov (United States)

    Hazey, Jeffrey W; Melvin, W Scott

    2004-06-01

    With the initiation of laparoscopic techniques in general surgery, we have seen a significant expansion of minimally invasive techniques in the last 16 years. More recently, robotic-assisted laparoscopy has moved into the general surgeon's armamentarium to address some of the shortcomings of laparoscopic surgery. AESOP (Computer Motion, Goleta, CA) addressed the issue of visualization as a robotic camera holder. With the introduction of the ZEUS robotic surgical system (Computer Motion), the ability to remotely operate laparoscopic instruments became a reality. US Food and Drug Administration approval in July 2000 of the da Vinci robotic surgical system (Intuitive Surgical, Sunnyvale, CA) further defined the ability of a robotic-assist device to address limitations in laparoscopy. This includes a significant improvement in instrument dexterity, dampening of natural hand tremors, three-dimensional visualization, ergonomics, and camera stability. As experience with robotic technology increased and its applications to advanced laparoscopic procedures have become more understood, more procedures have been performed with robotic assistance. Numerous studies have shown equivalent or improved patient outcomes when robotic-assist devices are used. Initially, robotic-assisted laparoscopic cholecystectomy was deemed safe, and now robotics has been shown to be safe in foregut procedures, including Nissen fundoplication, Heller myotomy, gastric banding procedures, and Roux-en-Y gastric bypass. These techniques have been extrapolated to solid-organ procedures (splenectomy, adrenalectomy, and pancreatic surgery) as well as robotic-assisted laparoscopic colectomy. In this chapter, we review the evolution of robotic technology and its applications in general surgical procedures.

  9. The impact of preimplantation genetic diagnosis on human embryos

    Directory of Open Access Journals (Sweden)

    García-Ferreyra J.

    2016-12-01

    Full Text Available Chromosome abnormalities are extremely common in human oocytes and embryos and are associated with a variety of negative outcomes for both natural cycles and those using assisted reproduction techniques. Aneuploidies embryos may fail to implant in the uterus, miscarry, or lead to children with serious medical problems (e.g., Down syndrome. Preimplantation genetic diagnosis (PGD is a technique that allows the detection of aneuploidy in embryos and seeks to improve the clinical outcomes od assisted reproduction treatments, by ensuring that the embryos chosen for the transfer are chromosomally normal.

  10. Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility.

    Science.gov (United States)

    Wang, C-W; Hui, E C

    2009-01-01

    With the progress in cancer genetics and assisted reproductive technologies, it is now possible for cancer gene mutation carriers not only to reduce cancer mortality through the targeting of surveillance and preventive therapies, but also to avoid the birth of at-risk babies through the choice of different means of reproduction. Thus, the incidence of hereditary cancer syndromes may be decreased in the future. The integration of cancer genetic testing and assisted reproductive technologies raises certain ethical, legal and social issues beyond either genetic testing or assisted reproductive technology itself. In this paper, the reproductive decisions/choices of at-risk young couples and the ethical, legal and social concerns of prenatal genetic testing and preimplantation genetic diagnosis for susceptibility to hereditary cancer syndromes are discussed. Specifically, three ethical principles related to the integration of cancer genetic testing and assisted reproductive technologies, i.e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted.

  11. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  12. Genetics and Neuromuscular Diseases

    Science.gov (United States)

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

  13. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  14. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  15. Genetics Home Reference: sialuria

    Science.gov (United States)

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

  16. Genetics of complex diseases

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  17. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  18. [The genetics of addictions].

    Science.gov (United States)

    Ibañez Cuadrado, Angela

    2008-01-01

    The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

  19. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

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

  20. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  1. Review of genetic concepts

    International Nuclear Information System (INIS)

    Robinson, A.

    1984-01-01

    In recent years, practitioners of medicine have become increasingly aware of the importance of genetics in the understanding of physical and mental health and in the management of disease. The last decades have witnessed unprecedented developments in genetics that have increased our understanding of the basic processes of heredity enormously. New techniques and understanding have provided insights directly applicable to medicine. The fundamental fact of heredity may be considered the ability of living organisms to produce offspring that resemble their parents more than others. One of the basic characteristics of the human condition is the uniqueness and diversity of all individuals. This results from their genetic individuality (with the exception of identical twins) and the interaction of the genetic constitution (the genome) with the environment, which is generally unique to the individual as well. In short, the interaction of genes with the environment is what confers biologic uniqueness to all humans

  2. Genetic Sample Inventory

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected primarily from the U.S. east coast. The collection includes samples from field programs,...

  3. Specific Genetic Disorders

    Science.gov (United States)

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

  4. Genetic Mutations in Cancer

    Science.gov (United States)

    Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

  5. Genetic Sample Inventory - NRDA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected in the North-Central Gulf of Mexico from 2010-2015. The collection includes samples from...

  6. Regulation of Genetic Tests

    Science.gov (United States)

    ... for Genomics Research Intellectual Property Issues in Genetics Archive Online Bioethics Resources Privacy in Genomics Regulation of ... are not regulated, meaning that they go to market without any independent analysis to verify the claims ...

  7. Genetics of osteoarthritis.

    Science.gov (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  8. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    ... into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

  9. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  10. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  11. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  12. Genetics and developmental biology

    International Nuclear Information System (INIS)

    Barnett, W.E.

    1975-01-01

    Progress is reported on research activities in the fields of mutagenesis in Haemophilus influenzae and Escherichia coli; radioinduced chromosomal aberrations in mammalian germ cells; effects of uv radiation on xeroderma pigmentosum skin cells; mutations in Chinese hamster ovary cells; radioinduced hemoglobin variants in the mouse; analysis of mutants in yeast; Drosophila genetics; biochemical genetics of Neurospora; DNA polymerase activity in Xenopus laevis oocytes; uv-induced damage in Bacillus subtilis; and others

  13. Christianity, health, and genetics.

    Science.gov (United States)

    Smith, David H

    2009-02-15

    Health is an intrinsic value that Christians should respect, but it is not the highest value. Christians should be willing to jeopardize their own health for the health of others, and should repudiate any idea that genetic problems are the result of sin. Rather, sin leads us to make genetic problems harder to live with than they should be. (c) 2009 Wiley-Liss, Inc.

  14. Somatic and genetic effects

    International Nuclear Information System (INIS)

    Broerse, J.J.; Barendsen, G.W.; Kal, H.B.; Kogel, A.J. van der

    1983-01-01

    This book contains the extended abstracts of the contributions of the poster workshop sessions on somatic and genetic effects of the 7th international congress of radiation research. They cover the following main topics: haematopoietic and immune systems, mechanisms of late effects in various tissues, endogenous and exogenous factors in radiation carcinogenesis, teratogenic effects, genetic effects, in vitro transformation, tumour induction in different tissues, carcinogenesis in incorporated tissues, cancer epidemology and risk assessment. refs.; figs.; tabs

  15. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  16. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)

    2004-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  17. Ethical guidelines in genetics and genomics. An Islamic perspective.

    Science.gov (United States)

    Al-Aqeel, Aida I

    2005-12-01

    We are at a time of unprecedented increase in knowledge of rapidly changing technology. Such biotechnology especially when it involves human subjects raises complex ethical, legal, social and religious issues. A World Health Organization expert consultation concluded that "genetics advances will only be acceptable if their application is carried out ethically, with due regard to autonomy, justice, education and the beliefs and resources of each nation and community." Public health authorities are increasingly concerned by the high rate of births with genetic disorders especially in developing countries where Muslims are a majority. Therefore, it is imperative to scrutinize the available methods of prevention and management of genetic disorders. A minimum level of cultural awareness is a necessary prerequisite for the delivery of care that is culturally sensitive, especially in Islamic countries. Islam presents a complete moral, ethical, and medical framework, it is a religion which encompasses the secular with the spiritual, the mundane with the celestial and hence forms the basis of the ethical, moral and even juridical attitudes and laws towards any problem or situation. Islamic teachings carry a great deal of instructions for health promotion and disease prevention including hereditary and genetic disorders, therefore, we will discuss how these teachings play an important role in the diagnostic, management and preventive measures including: genomic research; population genetic screening pre-marital screening, pre-implantation genetic diagnosis; assisted reproduction technology; stem cell therapy; genetic counseling and others.

  18. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  19. Genetic and environmental interactions

    International Nuclear Information System (INIS)

    Strong, L.C.

    1977-01-01

    Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

  20. Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.

    Science.gov (United States)

    Riley, Jacquelyn D; Procop, Gary W; Kottke-Marchant, Kandice; Wyllie, Robert; Lacbawan, Felicitas L

    2015-05-01

    The ordering of molecular genetic tests by health providers not well trained in genetics may have a variety of untoward effects. These include the selection of inappropriate tests, the ordering of panels when the assessment of individual or fewer genes would be more appropriate, inaccurate result interpretation and inappropriate patient guidance, and significant unwarranted cost expenditure. We sought to improve the utilization of molecular genetic tests by requiring providers without specialty training in genetics to use genetic counselors and molecular genetic pathologists to assist in test selection. We used a genetic and genomic test review process wherein the laboratory-based genetic counselor performed the preanalytic assessment of test orders and test triage. Test indication and clinical findings were evaluated against the test panel composition, methods, and test limitations under the supervision of the molecular genetic pathologist. These test utilization management efforts resulted in a decrease in genetic test ordering and a gross cost savings of $1,531,913 since the inception of these programs in September 2011 through December 2013. The combination of limiting the availability of complex genetic tests and providing guidance regarding appropriate test strategies is an effective way to improve genetic tests, contributing to judicious use of limited health care resources. Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  1. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  2. AssistMe robot, an assistance robotic platform

    Directory of Open Access Journals (Sweden)

    A. I. Alexan

    2012-06-01

    Full Text Available This paper presents the design and implementation of a full size assistance robot. Its main purpose it to assist a person and eventually avoid a life threatening situation. Its implementation revolves around a chipKIT Arduino board that interconnects a robotic base controller with a 7 inch TABLET PC and various sensors. Due to the Android and Arduino combination, the robot can interact with the person and provide an easy development platform for future improvement and feature adding. The TABLET PC is Webcam, WIFI and Bluetooth enabled, offering a versatile platform that is able to process data and in the same time provide the user a friendly interface.

  3. Religious aspects of assisted reproduction

    Science.gov (United States)

    Sallam, H N; Sallam, N H

    2016-03-28

    Human response to new developments regarding birth, death, marriage and divorce is largely shaped by religious beliefs. When assisted reproduction was introduced into medical practice in the last quarter of the twentieth century, it was fiercely attacked by some religious groups and highly welcomed by others. Today, assisted reproduction is accepted in nearly all its forms by Judaism, Hinduism and Buddhism, although most Orthodox Jews refuse third party involvement. On the contrary assisted reproduction is totally unacceptable to Roman Catholicism, while Protestants, Anglicans, Coptic Christians and Sunni Muslims accept most of its forms, which do not involve gamete or embryo donation. Orthodox Christians are less strict than Catholic Christians but still refuse third party involvement. Interestingly, in contrast to Sunni Islam, Shi'a Islam accepts gamete donation and has made provisions to institutionalize it. Chinese culture is strongly influenced by Confucianism, which accepts all forms of assisted reproduction that do not involve third parties. Other communities follow the law of the land, which is usually dictated by the religious group(s) that make(s) the majority of that specific community. The debate will certainly continue as long as new developments arise in the ever-evolving field of assisted reproduction.

  4. Religious aspects of assisted reproduction

    Science.gov (United States)

    Sallam, HN; Sallam, NH

    2016-01-01

    Abstract Human response to new developments regarding birth, death, marriage and divorce is largely shaped by religious beliefs. When assisted reproduction was introduced into medical practice in the last quarter of the twentieth century, it was fiercely attacked by some religious groups and highly welcomed by others. Today, assisted reproduction is accepted in nearly all its forms by Judaism, Hinduism and Buddhism, although most Orthodox Jews refuse third party involvement. On the contrary assisted reproduction is totally unacceptable to Roman Catholicism, while Protestants, Anglicans, Coptic Christians and Sunni Muslims accept most of its forms, which do not involve gamete or embryo donation. Orthodox Christians are less strict than Catholic Christians but still refuse third party involvement. Interestingly, in contrast to Sunni Islam, Shi’a Islam accepts gamete donation and has made provisions to institutionalize it. Chinese culture is strongly influenced by Confucianism, which accepts all forms of assisted reproduction that do not involve third parties. Other communities follow the law of the land, which is usually dictated by the religious group(s) that make(s) the majority of that specific community. The debate will certainly continue as long as new developments arise in the ever-evolving field of assisted reproduction. PMID:27822349

  5. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  6. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  7. 34 CFR 300.105 - Assistive technology.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 2 2010-07-01 2010-07-01 false Assistive technology. 300.105 Section 300.105 Education... DISABILITIES State Eligibility Other Fape Requirements § 300.105 Assistive technology. (a) Each public agency must ensure that assistive technology devices or assistive technology services, or both, as those terms...

  8. Assisted reproductive technology (ART) in humans: facts and uncertainties.

    Science.gov (United States)

    Ménézo, Y J; Veiga, A; Pouly, J L

    2000-01-15

    Since the first in vitro fertilization (IVF) in human, the number of patients using Assisted Reproductive Technologies (ART) has increased tremendously. ART technologies have increased in number and their spectrum has also widened. The first IVF babies are now more than 20 years old. All the retrospective analyses have demonstrated that the obstetrical and pediatrical impact has not really affected single births. The main problems observed occur with multiple pregnancies, including high costs for the couples and for society. The decrease in the number of embryos transferred has improved the situation and moreover does not impair the final results. IntraCytoplasmic Sperm Injection (ICSI) is a more debatable and questionable technique with a real negative genetic impact. The main problem is chromosome abnormalities more specifically related to the sex chromosomes. The question of a systematic genetic work-up on the patients entering ICSI programs is discussed. No negative impact of cryopreservation has been demonstrated even though some controversy arises from time to time. Pre-implantation Genetic Diagnosis (PGD) is now a interesting tool for patients carrying genetic defects. Blastocyst biopsy now has a future role in reproductive medicine. Gender selection through sperm sorting is also now a reality. As with the other developing bio-technologies related to reproduction, there are ethical questions. The decisions concerning these technologies do not belong solely to scientists but are rather a matter for society to decide.

  9. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Help Me Understand Genetics Genetic Consultation How are genetic conditions treated or managed? How are genetic conditions treated or managed? Many ...

  10. Protection of genetic heritage in the era of cloning

    OpenAIRE

    Oliveira Júnior,Eudes Quintino de; Oliveira,Pedro Bellentani Quintino de

    2012-01-01

    Research on human beings has expanded greatly due to progress and the evolution of society as well as customs. Not only the unceasing development of research on human beings, but also interference in the beginning and end of life with homologous and heterogonous human reproduction, surrogate motherhood, cloning, gene therapies, eugenics, euthanasia, dysthanasia, orthothanasia, assisted suicide, genetic engineering, reassignment surgery in cases of transsexuality, the use of recombinant DNA te...

  11. [Robot-assisted pancreatic resection].

    Science.gov (United States)

    Müssle, B; Distler, M; Weitz, J; Welsch, T

    2017-06-01

    Although robot-assisted pancreatic surgery has been considered critically in the past, it is nowadays an established standard technique in some centers, for distal pancreatectomy and pancreatic head resection. Compared with the laparoscopic approach, the use of robot-assisted surgery seems to be advantageous for acquiring the skills for pancreatic, bile duct and vascular anastomoses during pancreatic head resection and total pancreatectomy. On the other hand, the use of the robot is associated with increased costs and only highly effective and professional robotic programs in centers for pancreatic surgery will achieve top surgical and oncological quality, acceptable operation times and a reduction in duration of hospital stay. Moreover, new technologies, such as intraoperative fluorescence guidance and augmented reality will define additional indications for robot-assisted pancreatic surgery.

  12. Justice-based social assistance

    Science.gov (United States)

    Barrientos, Armando

    2016-01-01

    What are the main objectives of social protection institutions in developing countries? What should be their scope and reach? What is the source of their legitimacy? Finding appropriate answers to these questions is essential to understanding, and shaping, the emergence of welfare institutions in low- and middle-income countries. Most available answers rely on instrumental arguments. Few make reference to normative principles. This article draws on three concepts from Rawls – social justice as regulating cooperation, the social minimum, and the need for a freestanding political notion of social justice – to develop a coherent argument for grounding social assistance on social justice. In line with this argument, it identifies some parameters for a justice-based social assistance. This article then discusses, with examples, the tensions existing between a social justice-based social minimum and ‘real’ social assistance institutions emerging in developing countries. PMID:27708544

  13. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B

    2002-04-01

    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

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

    NARCIS (Netherlands)

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

    2017-01-01

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

  15. Magnetic Launch Assist Demonstration Test

    Science.gov (United States)

    2001-01-01

    This image shows a 1/9 subscale model vehicle clearing the Magnetic Launch Assist System, formerly referred to as the Magnetic Levitation (MagLev), test track during a demonstration test conducted at the Marshall Space Flight Center (MSFC). Engineers at MSFC have developed and tested Magnetic Launch Assist technologies. To launch spacecraft into orbit, a Magnetic Launch Assist System would use magnetic fields to levitate and accelerate a vehicle along a track at very high speeds. Similar to high-speed trains and roller coasters that use high-strength magnets to lift and propel a vehicle a couple of inches above a guideway, a launch-assist system would electromagnetically drive a space vehicle along the track. A full-scale, operational track would be about 1.5-miles long and capable of accelerating a vehicle to 600 mph in 9.5 seconds. This track is an advanced linear induction motor. Induction motors are common in fans, power drills, and sewing machines. Instead of spinning in a circular motion to turn a shaft or gears, a linear induction motor produces thrust in a straight line. Mounted on concrete pedestals, the track is 100-feet long, about 2-feet wide and about 1.5-feet high. The major advantages of launch assist for NASA launch vehicles is that it reduces the weight of the take-off, the landing gear, the wing size, and less propellant resulting in significant cost savings. The US Navy and the British MOD (Ministry of Defense) are planning to use magnetic launch assist for their next generation aircraft carriers as the aircraft launch system. The US Army is considering using this technology for launching target drones for anti-aircraft training.

  16. Assisted suicide and assisted voluntary euthanasia: Stransham-Ford ...

    African Journals Online (AJOL)

    The decision in Stransham-Ford v Minister of Justice and Correctional. Services and Others[1] by the North Gauteng High Court held that a terminally ill patient with intractable suffering was entitled to commit suicide with the assistance of his doctor, whose conduct would not be unlawful. The evidence was that the applicant ...

  17. Engagement of Students Teaching Assistants

    DEFF Research Database (Denmark)

    Schlichter, Bjarne Rerup; Brandt, Charlotte J.

    2016-01-01

    This paper reports from five years experiences of engaging young student teaching assistants into the continuously development of a course by involving them in research on pedagogical as well as other themes from the course. The purpose of the paper is to pave the road for a more engaged and inte......This paper reports from five years experiences of engaging young student teaching assistants into the continuously development of a course by involving them in research on pedagogical as well as other themes from the course. The purpose of the paper is to pave the road for a more engaged...... are identified accompanied with suggestions for further research....

  18. 'Supermentoring' of assistant professors' teaching

    DEFF Research Database (Denmark)

    Lauridsen, Ole

    Aarhus University offers a mandatory pedagogical training program for assistant professors, required in order to obtain tenure at a Danish university. At Business and Social Sciences, this program is supplemented by voluntary observation and (first of all formative) supervision of the assistant...... professors’ teaching practice. This offer is given is (i) because many young university teachers face problems putting pedagogical theory into practice – even though the program mentioned is practice-oriented, and (ii) because many of them (partly due to (i)) lack self-confidence as to teaching...

  19. Ion beam assisted film growth

    CERN Document Server

    Itoh, T

    2012-01-01

    This volume provides up to date information on the experimental, theoretical and technological aspects of film growth assisted by ion beams.Ion beam assisted film growth is one of the most effective techniques in aiding the growth of high-quality thin solid films in a controlled way. Moreover, ion beams play a dominant role in the reduction of the growth temperature of thin films of high melting point materials. In this way, ion beams make a considerable and complex contribution to film growth. The volume will be essential reading for scientists, engineers and students working in thi

  20. Ultrasonically assisted drilling of rocks

    Science.gov (United States)

    Mikhailova, N. V.; Onawumi, P. Y.; Roy, A.; Silberschmidt, V. V.

    2018-05-01

    Conventional drilling of rocks can generate significant damage in the drilled material; a material layer is often split off a back surface of a sample during drilling, negatively affecting its strength. To improve finish quality, ultrasonically assisted drilling (UAD) was employed in two rocks - sandstone and marble. Damage areas in both materials were reduced in UAD when compared to conventional drilling. Reductions in a thrust force and a torque reduction were observed only for UAD in marble; ultrasonic assistance in sandstone drilling did not result in improvements in this regard.

  1. Proust: A Nano Proof Assistant

    Directory of Open Access Journals (Sweden)

    Prabhakar Ragde

    2016-11-01

    Full Text Available Proust is a small Racket program offering rudimentary interactive assistance in the development of verified proofs for propositional and predicate logic. It is constructed in stages, some of which are done by students before using it to complete proof exercises, and in parallel with the study of its theoretical underpinnings, including elements of Martin-Lof type theory. The goal is twofold: to demystify some of the machinery behind full-featured proof assistants such as Coq and Agda, and to better integrate the study of formal logic with other core elements of an undergraduate computer science curriculum.

  2. Medically assisted reproduction and ethical challenges

    International Nuclear Information System (INIS)

    Kaeaeriaeinen, Helena; Evers-Kiebooms, Gerry; Coviello, Domenico

    2005-01-01

    Many of the ethical challenges associated with medically assisted reproduction are societal. Should the technique be restricted to only ordinary couples or could it be used also to single females or couples of same sex? Should the future child be entitled to know the identity of the gamete donor? Should there be age limits? Can embryos or gametes be used after the death of the donor? Can surrogate mothers be part of the process? Can preimplantation diagnostics be used to select the future baby's sex? In addition, there are several clearly medical questions that lead to difficult ethical problems. Is it safe to use very premature eggs or sperms? Is the risk for some rare syndromes caused by imprinting errors really increased when using these techniques? Do we transfer genetic infertility to the offspring? Is the risk for multiple pregnancies too high when several embryos are implanted? Does preimplantation diagnosis cause some extra risks for the future child? Should the counselling of these couples include information of all these potential but unlikely risks? The legislation and practices differ in different countries and ethical discussion and professional guidelines are still needed

  3. Genetics of eosinophilic esophagitis.

    Science.gov (United States)

    Kottyan, L C; Rothenberg, M E

    2017-05-01

    Eosinophilic esophagitis (EoE) is a chronic, allergic disease associated with marked mucosal eosinophil accumulation. EoE disease risk is multifactorial and includes environmental and genetic factors. This review will focus on the contribution of genetic variation to EoE risk, as well as the experimental tools and statistical methodology used to identify EoE risk loci. Specific disease-risk loci that are shared between EoE and other allergic diseases (TSLP, LRRC32) or unique to EoE (CAPN14), as well as Mendellian Disorders associated with EoE, will be reviewed in the context of the insight that they provide into the molecular pathoetiology of EoE. We will also discuss the clinical opportunities that genetic analyses provide in the form of decision support tools, molecular diagnostics, and novel therapeutic approaches.

  4. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

    Wang, Haina; Peng, Nan; Shah, Shiraz Ali

    2015-01-01

    SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spind......SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes...... on archaeal ECEs has just started to unravel the molecular biology of these genetic entities and their interactions with archaeal hosts, it is expected to accelerate in the next decade....

  5. Crystal Genetics, Inc.

    Science.gov (United States)

    Kermani, Bahram G

    2016-07-01

    Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

  6. Whakapapa, genealogy and genetics.

    Science.gov (United States)

    Evans, Donald

    2012-05-01

    This paper provides part of an analysis of the use of the Maori term whakapapa in a study designed to test the compatibility and commensurability of views of members of the indigenous culture of New Zealand with other views of genetic technologies extant in the country. It is concerned with the narrow sense of whakapapa as denoting biological ancestry, leaving the wider sense of whakapapa as denoting cultural identity for discussion elsewhere. The phenomenon of genetic curiosity is employed to facilitate this comparison. Four levels of curiosity are identified, in the Maori data, which penetrate more or less deeply into the psyche of individuals, affecting their health and wellbeing. These phenomena are compared with non-Maori experiences and considerable commonalities are discovered together with a point of marked difference. The results raise important questions for the ethical application of genetic technologies. © 2010 Blackwell Publishing Ltd.

  7. Genetic autonomic disorders.

    Science.gov (United States)

    Axelrod, Felicia B

    2013-03-01

    Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage of deleterious material. The symptoms indicating autonomic dysfunction, however, will depend upon whether the genetic lesion has disrupted peripheral or central autonomic centers or both. Because the autonomic nervous system is pervasive and affects every organ system in the body, autonomic dysfunction will result in impaired homeostasis and symptoms will vary. The possibility of genetic confirmation by molecular testing for specific diagnosis is increasing but treatments tend to remain only supportive and directed toward particular symptoms. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Detailed genetic structure of European bitterling populations in Central Europe

    Directory of Open Access Journals (Sweden)

    Veronika Bartáková

    2015-11-01

    Full Text Available The European bitterling (Rhodeus amarus is a small cyprinid fish whose populations declined markedly between 1950 and 1980. However, its range currently expands, partly due to human-assisted introductions. We determined the genetic variability and detailed spatial structure among bitterling populations in Central Europe and tested alternative hypotheses about colonization of this area. Twelve polymorphic microsatellite loci on a large sample of 688 individuals had been used to analyse genetic variability and population structure. Samples originated from 27 localities with emphasis on area of the Czech Republic where three major sea drainages (Black, Baltic, and Northern Sea meet. Highly variable level of intrapopulation genetic variability had generally been detected and a recent decrease in numbers (“bottleneck” had been indicated by genetic data among six populations. High level of interpopulation differentiation was identified even within the basins. There was a significant role of genetic drift and indications of low dispersal ability of R. amarus. Surprisingly, the Odra River was inhabited by two distinct populations without any genetic signatures of a secondary contact. Czech part of the Odra (Baltic basin was colonized from the Danubian refugium (similarly to adjacent Danubian basin rivers including the Morava, while Polish part of the Odra was genetically similar to the populations in the Vistula River (Baltic basin, that has been colonized by a different (Eastern phylogeographic lineage of R. amarus. Most Czech R. amarus populations were colonized from the Danubian refugium, suggesting potential for a human-mediated colonization of the Odra or Elbe Rivers by R. amarus. One Elbe basin population was genetically mixed from the two (Danubian and Eastern phylogeographic lineages. In general the Czech populations of R. amarus were genetically stable except for a single population which has probably been recently introduced. This research

  9. Genetics and caries: prospects

    Directory of Open Access Journals (Sweden)

    Alexandre Rezende Vieira

    2012-01-01

    Full Text Available Caries remains the most prevalent non-contagious infectious disease in humans. It is clear that the current approaches to decrease the prevalence of caries in human populations, including water fluoridation and school-based programs, are not enough to protect everyone. The scientific community has suggested the need for innovative work in a number of areas in cariology, encompassing disease etiology, epidemiology, definition, prevention, and treatment. We have pioneered the work on genetic studies to identify genes and genetic markers of diagnostic, prognostic, and therapeutic value. This paper summarizes a presentation that elaborated on these initial findings.

  10. Burkholderia thailandensis: Genetic Manipulation.

    Science.gov (United States)

    Garcia, Erin C

    2017-05-16

    Burkholderia thailandensis is a Gram-negative bacterium endemic to Southeast Asian and northern Australian soils. It is non-pathogenic; therefore, it is commonly used as a model organism for the related human pathogens Burkholderia mallei and Burkholderia pseudomallei. B. thailandensis is relatively easily genetically manipulated and a variety of robust genetic tools can be used in this organism. This unit describes protocols for conjugation, natural transformation, mini-Tn7 insertion, and allelic exchange in B. thailandensis. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

  11. The Personal Information Security Assistant

    NARCIS (Netherlands)

    Kegel, Roeland Hendrik,Pieter

    The human element is often found to be the weakest link in the information security chain. The Personal Information Security Assistant project aims to address this by improving the privacy and security awareness of end-users and by aligning the user's personal IT environment to the user's security

  12. Tritium-assisted fusion breeders

    International Nuclear Information System (INIS)

    Greenspan, E.; Miley, G.H.

    1983-08-01

    This report undertakes a preliminary assessment of the prospects of tritium-assisted D-D fuel cycle fusion breeders. Two well documented fusion power reactor designs - the STARFIRE (D-T fuel cycle) and the WILDCAT (Cat-D fuel cycle) tokamaks - are converted into fusion breeders by replacing the fusion electric blankets with 233 U producing fission suppressed blankets; changing the Cat-D fuel cycle mode of operation by one of the several tritium-assisted D-D-based modes of operation considered; adjusting the reactor power level; and modifying the resulting plant cost to account for the design changes. Three sources of tritium are considered for assisting the D-D fuel cycle: tritium produced in the blankets from lithium or from 3 He and tritium produced in the client fission reactors. The D-D-based fusion breeders using tritium assistance are found to be the most promising economically, especially the Tritium Catalyzed Deuterium mode of operation in which the 3 He exhausted from the plasma is converted, by neutron capture in the blanket, into tritium which is in turn fed back to the plasma. The number of fission reactors of equal thermal power supported by Tritium Catalyzed Deuterium fusion breeders is about 50% higher than that of D-T fusion breeders, and the profitability is found to be slightly lower than that of the D-T fusion breeders

  13. Physician assistant education in Germany

    NARCIS (Netherlands)

    M. Dierks; L. Kuilman; C. Matthews

    2013-01-01

    The first physician assistant (PA) program in Germany began in 2005. As of 2013 there are three PA programs operational, with a fourth to be inaugurated in the fall of 2013. The programs have produced approximately 100 graduates, all with a nursing background. The PA model of shifting tasks from

  14. Designing Real Time Assistive Technologies

    DEFF Research Database (Denmark)

    Sonne, Tobias; Obel, Carsten; Grønbæk, Kaj

    2015-01-01

    activities and assists the child in maintaining attention. From a preliminary evaluation of CASTT with 20 children in several schools, we and found that: 1) it is possible to create a wearable sensor system for children with ADHD that monitors physical and physiological activities in real time; and that 2...

  15. Weatherization Assistance Program Fact Sheet

    Energy Technology Data Exchange (ETDEWEB)

    None

    2018-02-01

    The U.S. Department of Energy’s (DOE) Weatherization Assistance Program reduces energy costs for low-income households by increasing the energy e ciency of their homes, while ensuring their health and safety. The Program supports 8,500 jobs and provides weatherization services to approximately 35,000 homes every year using DOE funds.

  16. Transcanalicular laser-assisted dacryocystorhinostomy.

    Science.gov (United States)

    Rosen, N; Barak, A; Rosner, M

    1997-09-01

    Current techniques of laser-assisted dacryocystorhinostomy are mostly endonasal. In this report, the authors describe their technique of laser-assisted dacryocystorhinostomy performed through the canaliculi and the surgical results they achieved. Fourteen patients with nasolacrimal duct obstruction underwent transcanalicular laser-assisted dacryocystorhinostomy. The bony ostium was perforated using a fiber optic-transmitting, giant-pulse Nd:YAG laser, with an energy of 0.5 to 4 J per pulse. The total energy used to create an ostium was 18 to 34 J. A silicone tube was inserted through the canaliculi and the ostium into the nasal cavity and kept in place for 5 to 7 months. Patients were observed for 18 to 22 months. Nine of the 14 patients (64%) reported the disappearance of epiphora following surgery. In 3 patients, no relief of epiphora was obtained. In 1 patient the operation was not completed because of severe nasal bleeding. In another, tearing began 12 months after surgery (6 months after tube removal). Transcanalicular laser-assisted dacryocystorhinostomy is a potentially useful method for performing dacryocystorhinostomy. Technical modifications and improvements are needed to increase the success rate.

  17. Microwave-assisted Chemical Transformations

    Science.gov (United States)

    In recent years, there has been a considerable interest in developing sustainable chemistries utilizing green chemistry principles. Since the first published report in 1986 by Gedye and Giguere on microwave assisted synthesis in household microwave ovens, the use of microwaves as...

  18. TADS: Technical Assistance Development System.

    Science.gov (United States)

    Epting, Rosemary, Ed.

    Described is the Technical Assistance Development System (TADS), a component of the Frank Porter Graham Child Development Center of the University of North Carolina at Chapel Hill which offers support services to preschool demonstration centers for handicapped children in the First Chance Network. Discussed are the four types of services offered:…

  19. NREL technical assistance to Argentina

    Energy Technology Data Exchange (ETDEWEB)

    Lilienthal, P. [National Renewable Energy Lab., Golden, CO (United States)

    1997-12-01

    This paper describes assistance to Argentina from the National Renewable Energy Laboratory which has touched on four programs: tariff analysis for rural concessions programs; wind/diesel hybrid retrofits in Patagonia; small hybrid systems designs for rural schools; an assessment of wind resources. The paper expands briefly on the first two points.

  20. Employee Assistance Programs in Canada.

    Science.gov (United States)

    Jaffe, Peter; And Others

    1988-01-01

    Employee assistance programs (EAP) are evaluated in questionnaire responses from 73 of 109 (67 percent) Canadian school boards and 35 (50 percent) of the clients of the EAP in London, Ontario. Explores the nature of current programs and emerging trends in this field. (MLF)

  1. Public Sector Employee Assistance Programs.

    Science.gov (United States)

    Kemp, Donna R.; Verlinde, Beverly

    This document discusses employee assistance programs (EAPs), programs which have been developed to help employees deal with personal problems that seriously affect job performance. It reviews literature which specifically addresses EAPs in the public sector, noting that there are no exact figures on how many public entities have EAPs. Previous…

  2. Optimizing equine assisted reproductive technologies

    NARCIS (Netherlands)

    Onstein, W.K.

    2018-01-01

    Application of assisted reproductive technologies (ARTs) is more common in the horse breeding industries, but there is still room for improvement. Embryo recovery rate after embryo flushing, embryo production rate after ovum pick-up (OPU) and intracytoplasmic sperm injection (ICSI), cryopreservation

  3. Consulting the community: public expectations and attitudes about genetics research

    Science.gov (United States)

    Etchegary, Holly; Green, Jane; Dicks, Elizabeth; Pullman, Daryl; Street, Catherine; Parfrey, Patrick

    2013-01-01

    Genomic discoveries and technologies promise numerous opportunities for improving health. Key to these potential health improvements, however, are health-care consumers' understanding and acceptance of these new developments. We identified community groups and invited them to a public information-consultation session in order to explore public awareness, perception and expectations about genetics and genomics research. One hundred and four members of seven community groups in Newfoundland, Canada took part in the community sessions. Content analysis of participant comments revealed they were largely hopeful about genetics research in its capacity to improve health; however, they did not accept such research uncritically. Complex issues arose during the community consultations, including the place of genetics in primary care, the value of genetics for personal health, and concerns about access to and uses of genetic information. Participants unequivocally endorsed the value of public engagement with these issues. The rapid pace of discoveries in genomics research offers exciting opportunities to improve population health. However, public support will be crucial to realize health improvements. Our findings suggest that regular, transparent dialog between researchers and the public could allow a greater understanding of the research process, as well as assist in the design of efficient and effective genetic health services, informed by the public that will use them. PMID:23591403

  4. Technical assistance in Latin America

    International Nuclear Information System (INIS)

    Oteiza-Quirno, A.

    1976-01-01

    As in the other regions, nuclear technology development in Latin America reflects mainly the degree of technological development already existing in each country. It is quite significant that in nearly all countries in Latin America the medical profession has been the first to show interest in using nuclear techniques. As a result, a country such as Uruguay has become a source of recruitment for technical assistance experts in nuclear medicine to other developing countries, while at the same time it continues to receive assistance for new sophisticated techniques from the IAEA. Part of this assistance, in turn, comes from the neighbouring countries, Argentina and Brazil. For example, an expert from Uruguay is currently assigned under an Agency programme to Costa Rica, El Salvador and Guatemala, and experts from Argentina and Brazil have been sent to Uruguay. This is an example of 'horizontal' development, meaning mutual assistance between developing countries under programmes supported by the United Nations Agencies, which is now being emphasized by the United Nations Development Programme (UNDP). Still in the field of nuclear medicine, another significant model is provided by Bolivia. With assistance from the IAEA, and thanks to the availability of a good professional infrastructure in that country, a net of nuclear medicine services has been started, consisting of a well-developed nuclear medicine centre in La Paz and regional centres in Cochabamba, Sucre and Santa Cruz. Because of its great variations in altitude, Bolivia is in the position of being able to conduct research on the adaptation of man to diverse environmental conditions. The Agency has contributed, and continues to do so, to these programmes by sending experts, providing for training abroad of Bolivian doctors under its fellowship programmes, and providing basic equipment for all four centres. Independently of the cases described above, the IAEA has implemented or is implementing a considerable

  5. Assisted reproductive technologies before de European Court of Human Rights: From Evans v. The United Kingdom to Parrillo v. Italy

    OpenAIRE

    Farnós Amorós, Esther

    2016-01-01

    Although most of the European legal systems regulate assisted reproductive technologies, diversity among member states regarding highly sensitive questions remains (e.g., conditions for access to certain treatments; use of Preimplantation Genetic Diagnosis in order to avoid a children’s genetic disease; resource to heterologous technologies with donated gametes; effects of international surrogacy arrangements; or the final destiny of cryopreserved embryos resulting from an “in vitro” fertiliz...

  6. Modeling of Plasma Assisted Combustion

    Science.gov (United States)

    Akashi, Haruaki

    2012-10-01

    Recently, many experimental study of plasma-assisted combustion has been done. However, numerous complex reactions in combustion of hydrocarbons are preventing from theoritical study for clarifying inside the plasma-assisted combustion, and the effect of plasma-assist is still not understood. Shinohara and Sasaki [1,2] have reported that the shortening of flame length by irradiating microwave without increase of gas temperature. And they also reported that the same phenomena would occur when applying dielectric barrier discharges to the flame using simple hydrocarbon, methane. It is suggested that these phenomena may result by the electron heating. To clarify this phenomena, electron behavior under microwave and DBD was examined. For the first step of DBD plasma-assisted combustion simulation, electron Monte Carlo simulation in methane, oxygen and argon mixture gas(0.05:0.14:0.81) [2] has been done. Electron swarm parameters are sampled and electron energy distribution function (EEDF)s are also determined. In the combustion, gas temperature is higher(>1700K), so reduced electric field E/N becomes relatively high(>10V/cm/Torr). The electrons are accelerated to around 14 eV. This result agree with the optical emission from argon obtained by the experiment of reference [2]. Dissociation frequency of methane and oxygens are obtained in high. This might be one of the effect of plasma-assist. And it is suggested that the electrons should be high enough to dissociate methane, but plasma is not needed.[4pt] [1] K. Shinohara et al, J. Phys. D:Appl. Phys., 42, 182008 (1-7) (2009).[0pt] [2] K. Sasaki, 64th Annual Gaseous Electronic Conference, 56, 15 CT3.00001(2011).

  7. Magnetic Launch Assist Experimental Track

    Science.gov (United States)

    1999-01-01

    In this photograph, a futuristic spacecraft model sits atop a carrier on the Magnetic Launch Assist System, formerly known as the Magnetic Levitation (MagLev) System, experimental track at the Marshall Space Flight Center (MSFC). Engineers at MSFC have developed and tested Magnetic Launch Assist technologies that would use magnetic fields to levitate and accelerate a vehicle along a track at very high speeds. Similar to high-speed trains and roller coasters that use high-strength magnets to lift and propel a vehicle a couple of inches above a guideway, a Magnetic Launch Assist system would electromagnetically drive a space vehicle along the track. A full-scale, operational track would be about 1.5-miles long and capable of accelerating a vehicle to 600 mph in 9.5 seconds. This track is an advanced linear induction motor. Induction motors are common in fans, power drills, and sewing machines. Instead of spinning in a circular motion to turn a shaft or gears, a linear induction motor produces thrust in a straight line. Mounted on concrete pedestals, the track is 100-feet long, about 2-feet wide, and about 1.5-feet high. The major advantages of launch assist for NASA launch vehicles is that it reduces the weight of the take-off, the landing gear, the wing size, and less propellant resulting in significant cost savings. The US Navy and the British MOD (Ministry of Defense) are planning to use magnetic launch assist for their next generation aircraft carriers as the aircraft launch system. The US Army is considering using this technology for launching target drones for anti-aircraft training.

  8. 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...... appearance. Patients with one or a few juvenile polyps are usually not offered clinical follow-up as the polyp(s) are considered not to harbour any malignant potential. Nevertheless, it is important to note that juvenile polyps and HPs are also found in patients with hereditary hamartomatous polyposis......-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...

  9. Parents' contributions to the narrative identity of offspring of donor-assisted conception.

    Science.gov (United States)

    Kirkman, Maggie

    2003-12-01

    Donated sperm, eggs, and embryos are an increasing feature of assisted reproduction; people conceived in this way have different genetic and social histories. Although most offspring of donor-assisted conception are ignorant of their genetic history, recipient parents must negotiate increasing demand for full disclosure to offspring. This paper illustrates some of the reasons parents give for not telling their children, underlines the experience of many parents of being uncertain of how to go about telling, presents information from some parents who have endeavoured to be open with their children about conception from very early childhood, and discusses implications for the narrative identity of offspring of donor-assisted conception. Recipient parents (n=55) and offspring (12) from Australia; Canada, US, England, and Argentina were interviewed and subsequently consulted about the development of their narrative accounts and the way in which these have been interpreted. Parental narratives were found to be located along a continuum, broadly encompassing: (1). Parents who intend to exclude donor-assisted conception from the narratives they construct for their children, (2). parents who are uncertain about what they want to do, or confused about the best way to disclose and discuss donor conception with their children and (3). those have incorporated the donor in their children's narratives from the beginning. From interviews with offspring and on the basis of human rights issues and the increasing salience of genetic knowledge, it is concluded that disclosure to offspring before adolescence should be encouraged.

  10. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  11. Genetic Causes of Rickets

    Science.gov (United States)

    Acar, Sezer; Demir, Korcan; Shi, Yufei

    2017-01-01

    Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches. PMID:29280738

  12. Genetics Home Reference: citrullinemia

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. Learn more about the genes associated with citrullinemia ... GeneReview: Citrin Deficiency GeneReview: Citrullinemia Type I GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  13. Genetic risks from radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    Two widely-recognized committees, UNSCEAR and BEIR, have reevaluated their estimates of genetic risks from radiation. Their estimates for gene mutations are based on two different approaches, one being the doubling-dose approach and the other being a new direct approach based on an empirical determination of the amount of dominant induced damage in the skeletons of mice in the first generation following irradiation. The estimates made by these committees are in reasonably good agreement and suggest that the genetic risks from present exposures resultng from nuclear power production are small. There is room for much improvement in the reliability of the risk estimates. The relatively new approach of measuring the amount of induced damage to the mouse skeleton shows great promise of improving knowledge about how changes in the mutation frequency affect the incidence of genetic disorders. Such findings may have considerable influence on genetic risk estimates for radiation and on the development of risk estimates for other less-well-understood environmental mutagens. (author)

  14. Genetics and acronyms

    Directory of Open Access Journals (Sweden)

    Giovanni Corsello

    2014-06-01

    Full Text Available In a global society as the present, the nomenclature and terminology of diseases must be universally accepted among the specialists. This sentence is particularly true in some fields of medicine, as genetics, in which the progress of knowledge has been particularly rapid in last years.Many genetic disorders were termed using the names of the doctor (or the doctors who discovered and described them.The name of doctors and specialist were also frequently used to term sign and symptoms of diseases, including genetic syndromes.More rarely, a new disease received the name of the first patients described.In some cases the authors clearly proposed acronyms, that rapidly diffused as a good method to term genetic diseases and syndromes.Acronyms can be originated from the initial of main signs and symptoms; in some instances the acronym reproduces a word with other kind of semantic suggestions; some acronyms in their list of initials show also numbers, while others show also the initial of the words related to the physiopathology of disease.In more recent years acronyms were proposed to mark multicentric studies. Proceedings of the 10th International Workshop on Neonatology · Cagliari (Italy · October 22nd-25th, 2014 · The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou

  15. Genetic pathways to Neurodegeneration

    Indian Academy of Sciences (India)

    Renu

    The extensive resource on ataxia has led to the development of a clinico-genetic ... Keywords: Cerebellar ataxias, SCAs, ARCAs, NGS, Gene network, iPSCs, .... Besides, mutations in different regions of the same gene result in different ..... integration with population data can also allow focussed testing/screening in specific.

  16. Genetics and variation

    Science.gov (United States)

    John R. Jones; Norbert V. DeByle

    1985-01-01

    The broad genotypic variability in quaking aspen (Populus tremuloides Michx.), that results in equally broad phenotypic variability among clones is important to the ecology and management of this species. This chapter considers principles of aspen genetics and variation, variation in aspen over its range, and local variation among clones. For a more...

  17. Genetically Engineering Entomopathogenic Fungi.

    Science.gov (United States)

    Zhao, H; Lovett, B; Fang, W

    2016-01-01

    Entomopathogenic fungi have been developed as environmentally friendly alternatives to chemical insecticides in biocontrol programs for agricultural pests and vectors of disease. However, mycoinsecticides currently have a small market share due to low virulence and inconsistencies in their performance. Genetic engineering has made it possible to significantly improve the virulence of fungi and their tolerance to adverse conditions. Virulence enhancement has been achieved by engineering fungi to express insect proteins and insecticidal proteins/peptides from insect predators and other insect pathogens, or by overexpressing the pathogen's own genes. Importantly, protein engineering can be used to mix and match functional domains from diverse genes sourced from entomopathogenic fungi and other organisms, producing insecticidal proteins with novel characteristics. Fungal tolerance to abiotic stresses, especially UV radiation, has been greatly improved by introducing into entomopathogens a photoreactivation system from an archaean and pigment synthesis pathways from nonentomopathogenic fungi. Conversely, gene knockout strategies have produced strains with reduced ecological fitness as recipients for genetic engineering to improve virulence; the resulting strains are hypervirulent, but will not persist in the environment. Coupled with their natural insect specificity, safety concerns can also be mitigated by using safe effector proteins with selection marker genes removed after transformation. With the increasing public concern over the continued use of synthetic chemical insecticides and growing public acceptance of genetically modified organisms, new types of biological insecticides produced by genetic engineering offer a range of environmentally friendly options for cost-effective control of insect pests. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Genetics of celiac disease

    NARCIS (Netherlands)

    Ricano-Ponce, Isis; Wijmenga, Cisca; Gutierrez-Achury, Javier

    New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci

  19. Paper Genetic Engineering.

    Science.gov (United States)

    MacClintic, Scott D.; Nelson, Genevieve M.

    Bacterial transformation is a commonly used technique in genetic engineering that involves transferring a gene of interest into a bacterial host so that the bacteria can be used to produce large quantities of the gene product. Although several kits are available for performing bacterial transformation in the classroom, students do not always…

  20. The genetics of obesity.

    Science.gov (United States)

    All definitions of the metabolic syndrome include some form of obesity as one of the possible features. Body mass index (BMI) has a known genetic component, currently estimated to account for about 70% of the population variance in weight status for non-syndromal obesity. Much research effort has be...

  1. The genetics of Tamarix

    Science.gov (United States)

    Genetic studies have helped us gain basic knowledge of the Tamarix invasion. We now have a better understanding of the species identities involved in the invasion, their evolutionary relationships, and the contribution of hybridization to the invasion. This information can be used to enhance the eff...

  2. Intelligence, Race, and Genetics

    Science.gov (United States)

    Sternberg, Robert J.; Grigorenko, Elena L.; Kidd, Kenneth K.

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They…

  3. Preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2013-02-01

    Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.

  4. Punnett and duck genetics

    Indian Academy of Sciences (India)

    25, 191–194; reprinted in this issue as a J. Genet. classic, pages 3–7) ... 1932, starts with Punnett explaining that he started his work on ducks as he was asked ... text of Punnett's later comments on genes and human mental disease. Punnett's ...

  5. Genetic hazards of radiation

    International Nuclear Information System (INIS)

    Searle, A.G.

    1987-01-01

    The difficulties of quantifying genetic radiation effects are discussed, with reference to studies of atomic bomb survivors, and mouse germ-cells. Doubling dose methods of extrapolation and the problems of quantifying risks of diseases of irregular inheritance are also considered. (U.K.)

  6. Genetic technologies and ethics.

    Science.gov (United States)

    Ardekani, Ali M

    2009-01-01

    In the past decade, the human genome has been completely sequenced and the knowledge from it has begun to influence the fields of biological and social sciences in fundamental ways. Identification of about 25000 genes in the human genome is expected to create great benefits in diagnosis and treatment of diseases in the coming years. However, Genetic technologies have also created many interesting and difficult ethical issues which can affect the human societies now and in the future. Application of genetic technologies in the areas of stem cells, cloning, gene therapy, genetic manipulation, gene selection, sex selection and preimplantation diagnosis has created a great potential for the human race to influence and change human life on earth as we know it today. Therefore, it is important for leaders of societies in the modern world to pay attention to the advances in genetic technologies and prepare themselves and those institutions under their command to face the challenges which these new technologies induce in the areas of ethics, law and social policies.

  7. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  8. Safe genetically engineered plants

    Energy Technology Data Exchange (ETDEWEB)

    Rosellini, D; Veronesi, F [Dipartimento di Biologia Vegetale e Biotecnologie Agroambientali e Zootecniche, Universita degli Studi di Perugia, Borgo XX giugno 74, 06121 Perugia (Italy)

    2007-10-03

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  9. Linear genetic programming

    CERN Document Server

    Brameier, Markus

    2007-01-01

    Presents a variant of Genetic Programming that evolves imperative computer programs as linear sequences of instructions, in contrast to the more traditional functional expressions or syntax trees. This book serves as a reference for researchers, but also contains sufficient introduction for students and those who are new to the field

  10. Safe genetically engineered plants

    International Nuclear Information System (INIS)

    Rosellini, D; Veronesi, F

    2007-01-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work

  11. Genetic Resources of Watermelon

    Science.gov (United States)

    As a result of many years of domestication and selection for desirable fruit quality, watermelon cultivars (Citrullus lanatus) share a narrow genetic base. Africa is the center of origin and diversity of watermelon and is considered to be the central continent for collecting and conserving useful ge...

  12. Genetic Dominance & Cellular Processes

    Science.gov (United States)

    Seager, Robert D.

    2014-01-01

    In learning genetics, many students misunderstand and misinterpret what "dominance" means. Understanding is easier if students realize that dominance is not a mechanism, but rather a consequence of underlying cellular processes. For example, metabolic pathways are often little affected by changes in enzyme concentration. This means that…

  13. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Some studies suggest that additional genetic changes can influence the development of retinoblastoma ; these changes may help explain variations ... usually occurs in childhood, typically leading to the development of ... and there is no family history of the disease. Affected individuals are born ...

  14. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  15. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  16. Distributed genetic process mining

    NARCIS (Netherlands)

    Bratosin, C.C.; Sidorova, N.; Aalst, van der W.M.P.

    2010-01-01

    Process mining aims at discovering process models from data logs in order to offer insight into the real use of information systems. Most of the existing process mining algorithms fail to discover complex constructs or have problems dealing with noise and infrequent behavior. The genetic process

  17. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    pp 223-226 Commentary on J. Genet. Classic. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman · Ian Dworkin · More Details Fulltext PDF. pp 227-257 J. Genet. Classic. The Genetic Assimilation of Four Venation Phenocopies (Published on 1959 J. Genet.

  18. [The role of the genetics history in genetics teaching].

    Science.gov (United States)

    Li, Ming-Hui

    2006-08-01

    The research of the scientific history and development status reflect the science and technology level of a nation. The genetic history is one of the branches of the life science and the 21st century is life science century. The genetics history in the teaching of genetics not only can help students get familiar with the birth and development of genetics, but also enhance their thinking ability and scientific qualities. The roles and approaches of teaching are discussed in this paper.

  19. The genetics of diabetes

    Directory of Open Access Journals (Sweden)

    Barjaktarović Nada

    2007-01-01

    Full Text Available Pathogenesis of diabetes is still a mystery for medicine, the real challenge currently being the identification of genetic factors and specific mutations that cause the disease. Heterogeneity of diabetes hampers research, only a few loci inside the human genome being correlated with predisposition for disease till now. Insulin-dependent diabetes - IDDM (T1DM develops through autoimmune destruction of pancreatic beta cells. HLA complex on the short arm of chromosome 6 (6p21, where very important genes responsible for immunological condition of the person are located, plays a very important role in genetic predisposition for T1DM. Beside this region, there are also other loci in the human genome (on chromosomes 1, 2 and 11 where a correlation with T1DM has been shown. Correlation between HLA systems and T1DM was first described for class I alleles, but recently attention has been drawn to class II loci which seem to be the cause of primary predisposition for T1DM. In the case of non-insulin-dependent diabetes - NIDDM (T2DM, the situation proved to be even more complex. Only a few genetic loci on chromosomes 11, 13 and 20 and MODY variant on chromosomes 7 and 12 have been identified by now. There are two theories about genetic basis of T2DM: the first stipulates that the genetic predisposition is determined through numerous loci, each individually responsible for a small part of predisposition; the second claims that there are a limited number of "major" genes probably functioning on a polygenic basis. Further research in this area is definitely needed to enable an accurate calculation of the risks of the disease and possible consequences during a lifetime of a person.

  20. Genetic conservation and paddlefish propagation

    Science.gov (United States)

    Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

    2009-01-01

    The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

  1. Evolutionary design assistants for architecture

    Directory of Open Access Journals (Sweden)

    N. Onur Sönmez

    2015-04-01

    Full Text Available In its parallel pursuit of an increased competitivity for design offices and more pleasurable and easier workflows for designers, artificial design intelligence is a technical, intellectual, and political challenge. While human-machine cooperation has become commonplace through Computer Aided Design (CAD tools, a more improved collaboration and better support appear possible only through an endeavor into a kind of artificial design intelligence, which is more sensitive to the human perception of affairs. Considered as part of the broader Computational Design studies, the research program of this quest can be called Artificial / Autonomous / Automated Design (AD. The current available level of Artificial Intelligence (AI for design is limited and a viable aim for current AD would be to develop design assistants that are capable of producing drafts for various design tasks. Thus, the overall aim of this thesis is the development of approaches, techniques, and tools towards artificial design assistants that offer a capability for generating drafts for sub-tasks within design processes. The main technology explored for this aim is Evolutionary Computation (EC, and the target design domain is architecture. The two connected research questions of the study concern, first, the investigation of the ways to develop an architectural design assistant, and secondly, the utilization of EC for the development of such assistants. While developing approaches, techniques, and computational tools for such an assistant, the study also carries out a broad theoretical investigation into the main problems, challenges, and requirements towards such assistants on a rather overall level. Therefore, the research is shaped as a parallel investigation of three main threads interwoven along several levels, moving from a more general level to specific applications. The three research threads comprise, first, theoretical discussions and speculations with regard to both

  2. Genetic Engineering and the Amelioration of Genetic Defect

    Science.gov (United States)

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

  3. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  4. Genetics Home Reference: Kleefstra syndrome

    Science.gov (United States)

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

  5. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

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

  6. Clinical Cancer Genetics and Prevention

    Science.gov (United States)

    Olufunmilayo F. Olopade MD, FACP, Professor of Medicine and Human Genetics and Director of the Cancer Risk Clinic Department of Medicine, BSD Section of Hematology/Oncology University of Chicago, presented "Clinical Cancer Genetics and Prevention".

  7. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  8. The Genetics of Pork Quality

    NARCIS (Netherlands)

    Wijk, van H.J.

    2006-01-01

    This thesis describes the genetics of carcass composition and pork quality traits. A large population of commercial finishers was extensively phenotyped for growth, carcass composition and meat quality traits. Genetic parameters were estimated based on those measurements. The population was

  9. [Public health, genetics and ethics].

    Science.gov (United States)

    Kottow, Miguel H

    2002-10-01

    Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the requirements of citizenry, consideration of common assets, and definition of public policies in regulating genetic endeavors and protecting the society as a whole Bioethics has privileged the approach to individual ethical issues derived from genetic intervention, thereby neglecting the more salient aspects of genetics and social ethics.

  10. Selected Readings in Genetic Engineering

    Science.gov (United States)

    Mertens, Thomas R.; Robinson, Sandra K.

    1973-01-01

    Describes different sources of readings for understanding issues and concepts of genetic engineering. Broad categories of reading materials are: concerns about genetic engineering; its background; procedures; and social, ethical and legal issues. References are listed. (PS)

  11. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  12. Genetics Home Reference: PURA syndrome

    Science.gov (United States)

    ... TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets ... article on PubMed Central More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  13. Genetics Home Reference: Kniest dysplasia

    Science.gov (United States)

    ... may include a rounded upper back that also curves to the side ( kyphoscoliosis ), severely flattened bones of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  14. Genetics Home Reference: Carpenter syndrome

    Science.gov (United States)

    ... deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  15. Genetics Home Reference: Czech dysplasia

    Science.gov (United States)

    ... such as a rounded upper back that also curves to the side ( kyphoscoliosis ). Some people with Czech ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  16. Genetics Home Reference: Winchester syndrome

    Science.gov (United States)

    ... bones ( osteoporosis ) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  17. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  18. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  19. Genetics and epigenetics of obesity

    OpenAIRE

    Herrera, Blanca M.; Keildson, Sarah; Lindgren, Cecilia M.

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40?70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  20. Genetics of ovulation rate in farm animals

    Directory of Open Access Journals (Sweden)

    Rohit Kumar

    2013-09-01

    Full Text Available Rate of ovulation (i.e. fecundity is largely influenced by both genetic and environmental factors. The ovarian growth factorsincluding members of bone morphogenetic proteins (BMPs play a central role in determining ovulation quota and litter size.Naturally occurring mutation in sheep and knock-out and knock–down studies in murine indicated the importance of bonemorphogenetic protein 15 (BMP15, growth differentiation factor 9 (GDF9 and bone morphogenetic protein receptor 1B(BMPR1B genes in mammals. These factors have major regulatory roles during the gonadotrophin-independent and -dependent stages of follicle development. Understanding of BMPs in reproduction assists in the treatment of infertility/sterility in animals.

  1. Genetic algorithm optimization of atomic clusters

    International Nuclear Information System (INIS)

    Morris, J.R.; Deaven, D.M.; Ho, K.M.; Wang, C.Z.; Pan, B.C.; Wacker, J.G.; Turner, D.E.; Iowa State Univ., Ames, IA

    1996-01-01

    The authors have been using genetic algorithms to study the structures of atomic clusters and related problems. This is a problem where local minima are easy to locate, but barriers between the many minima are large, and the number of minima prohibit a systematic search. They use a novel mating algorithm that preserves some of the geometrical relationship between atoms, in order to ensure that the resultant structures are likely to inherit the best features of the parent clusters. Using this approach, they have been able to find lower energy structures than had been previously obtained. Most recently, they have been able to turn around the building block idea, using optimized structures from the GA to learn about systematic structural trends. They believe that an effective GA can help provide such heuristic information, and (conversely) that such information can be introduced back into the algorithm to assist in the search process

  2. Inclusive Design for Assistive Technology

    DEFF Research Database (Denmark)

    Herriott, Richard

    2014-01-01

    Objectives/focus/background: Design for Assistive Technology (AT) requires a special focus on user-requirements during product development. Inclusive Design theory and methodology thus has been relevant to AT design processes. Research in AT design has both drawn from and added to the ID knowledge...... the question of whether AT design processes fit neatly into a model created for a different context . Semi-structured interviews were carried out with eight/nine designers of assistive technology. This provided raw data concerning the processes used by the designers in a range of products including...... a wheelchair for children, a washbasin system, a rollator and breathing apparatus for patients with chronic obstructive pulmonary disorder. The interviews conducted showed that there was required a different emphasis in the means by which users´ requirements were incorporated into the design process...

  3. Why not Commercial Assistance for Suicide? On the Question of Argumentative Coherence of Endorsing Assisted Suicide.

    Science.gov (United States)

    Kipke, Roland

    2015-09-01

    Most people who endorse physician-assisted suicide are against commercially assisted suicide - a suicide assisted by professional non-medical providers against payment. The article questions if this position - endorsement of physician-assisted suicide on the one hand and rejection of commercially assisted suicide on the other hand - is a coherent ethical position. To this end the article first discusses some obvious advantages of commercially assisted suicide and then scrutinizes six types of argument about whether they can justify the rejection of commercially assisted suicide while simultaneously endorsing physician-assisted suicide. The conclusion is that they cannot provide this justification and that the mentioned position is not coherent. People who endorse physician-assisted suicide have to endorse commercially assisted suicide as well, or they have to revise their endorsement of physician-assisted suicide. © 2014 John Wiley & Sons Ltd.

  4. Versatile Manipulation for Assistive Free-Flyers

    Data.gov (United States)

    National Aeronautics and Space Administration — Assistive Free-Flyers (AFFs) are flying robots designed to share the living space with human astronauts in orbit. These robots have shown the potential to assist...

  5. Medicosocial assistance to children in difficult situations

    Directory of Open Access Journals (Sweden)

    Petrova E.I.

    2012-06-01

    Full Text Available Provision of medical and social assistance to children at risk groups has been analyzed theoretically. Information of medical and social assistance to children in the city of Ryazan has been presented

  6. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

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

  7. Genetic variation in California oaks

    Science.gov (United States)

    Constance I. Millar; Diane L. Delany; Lawrence A. Riggs

    1990-01-01

    In forestry the importance of genetic variation for successful reproduction, survival and growth has been widely documented for commercial conifers; until recently, little genetic work has been done on the California oaks. Even before the nature of genetic variation was scientifically investigated, its importance was suspected in operational forestry. Many failures of...

  8. Genetics in Relation to Biology.

    Science.gov (United States)

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  9. Moral Fantasy in Genetic Engineering.

    Science.gov (United States)

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  10. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

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

    2012-01-01

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

  11. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.

    1981-01-01

    The mutagenic effects of ionising radiation on germ cells with resulting genetic abnormalities in subsequent generations, are considered. Having examined a simple model to explain the interaction of ionising radiation with genetic material and discussed its limitations, the methods whereby mutations are transmitted are discussed. Methods of estimating genetic risks and the results of such studies are examined. (U.K.)

  12. Genetic transformation of forest trees

    African Journals Online (AJOL)

    Admin

    In this review, the recent progress on genetic transformation of forest trees were discussed. Its described also, different applications of genetic engineering for improving forest trees or understanding the mechanisms governing genes expression in woody plants. Key words: Genetic transformation, transgenic forest trees, ...

  13. Smart assistants for smart homes

    OpenAIRE

    Rasch, Katharina

    2013-01-01

    The smarter homes of tomorrow promise to increase comfort, aid elderly and disabled people, and help inhabitants save energy. Unfortunately, smart homes today are far from this vision – people who already live in such a home struggle with complicated user interfaces, inflexible home configurations, and difficult installation procedures. Under these circumstances, smart homes are not ready for mass adoption. This dissertation addresses these issues by proposing two smart assistants for smart h...

  14. A Virtual Assistant for Websites

    OpenAIRE

    Duizith, José Luiz Andrade; Lutheran University of Brazil; da Silva, Lizandro Kirst; ADS Digital; Brahm, Daniel Ribeiro; ADS Digital; Tagliassuchi, Gustavo; ADS Digital; Loh, Stanley; Lutheran University of Brazil ” ULBRA, Brasil Catholic University of Pelotas ” UCPEL, Brasil

    2004-01-01

    This work presents a Virtual Assistant (VA) whose main goal is to supply information for Websites users. AVA is a software system that interacts with persons through a Web browser, receiving textual questions and answering automatically without human intervention. The VA supplies information by looking for similar questions in a knowledge base and giving the corresponding answer. Artificial Intelligence techniques are employed in this matching process, to compare the user’s question aga...

  15. Operations Monitoring Assistant System Design

    Science.gov (United States)

    1986-07-01

    Logic. Artificial Inteligence 25(1)::75-94. January.18. 41 -Nils J. Nilsson. Problem-Solving Methods In Artificli Intelligence. .klcG raw-Hill B3ook...operations monitoring assistant (OMA) system is designed that combines operations research, artificial intelligence, and human reasoning techniques and...KnowledgeCraft (from Carnegie Group), and 5.1 (from Teknowledze). These tools incorporate the best methods of applied artificial intelligence, and

  16. Video assisted gastrostomy in children

    OpenAIRE

    Backman, Torbjörn

    2014-01-01

    Children with severe diseases can be provided nutritional support through a gastrostomy if needed. At the Department of Paediatric Surgery in Lund we have used the Video Assisted Gastrostomy (VAG) procedure since 1994 when establishing gastrostomies. In this thesis, children with different diseases, who all had undergone the VAG procedure, were studied in five different clinical studies. Postoperative complications were collected and validated. We have not seen any major complications associa...

  17. IREDA guidelines for loan assistance

    International Nuclear Information System (INIS)

    Anon.

    1992-01-01

    Indian Renewable Energy Development Agency Ltd. (IREDA) is a public sector undertaking of the Government of India. It was established in 1987 and works under Department of Non-Conventional Energy Sources (DNES). Its functions are to promote, develop and finance new and renewable sources of energy (NRSE). Guidelines for loan assistance from IREDA for different renewable energy sources are given. (M.G.B.)

  18. Population and Australian development assistance.

    Science.gov (United States)

    Jones, R

    1992-07-01

    Australia's position on international population issues is consistent with the major international statements on population: the World Population Plan of Action (1974), the Mexico City Declaration (1984), and the Amsterdam Declaration (1989). Australia's policy emphasizes the importance of population policies as an integral part of social, economic, and cultural development aimed at improving the quality of life of the people. Factors that would promote smaller families include improving economic opportunities, old-age security, education and health (particularly for women), as well as improving the accessibility and quality of family planning services. The quality of care approach is directly complementary to the Australian International Development Assistance Bureau (AIDAB)'s Women-In-Development Policy and its Health Policy, which stresses the theme of Women And Their Children's Health (WATCH). Australia's support for population programs and activities has increased considerably over the last few years. Total assistance for the year 1990/91 was around $7 million out of a total aid program of $1216 million. In recent years AIDAB has funded family planning activities or health projects with family planning components in a number of countries in the Asia-Pacific region. In the South Pacific region AIDAB has funded a reproductive health video project taking into consideration the cultural sensitivities and customs of the peoples of the region. AIDAB has supported a UN Population Fund project in Thailand that aims to strengthen the capacity of the National Statistical Office to collect population data. The US currently accounts for around 40% of all population-related development assistance to improve the health of women and children through family planning. The other major donors are Japan, the Scandinavian countries, and the Netherlands. Funding for population has been a relatively low percentage of overall development assistance budgets in OECD countries. In the

  19. Exoskeleton for assisting human movement

    OpenAIRE

    García Armada, Elena; Cestari, Manuel; Sanz Merodio, Daniel; Carrillo, Xavier Alberto

    2015-01-01

    [EN] The invention relates to an exoskeleton for assisting human movement, which can be fitted to the user in terms of dimensions, tension and ranges of joint motion, either manually or automatically. Said exoskeleton can be fitted to the user in the anteroposterior direction in the sagittal plane, with the user in a horizontal or sitting position, without requiring a functional transfer. The exoskeleton has a modular design which is compatible with human biomechanics and reproduces a natural...

  20. Development assistance and climate finance

    OpenAIRE

    Arndt, Channing

    2015-01-01

    The distinction between development assistance and climate finance is driven by an optic of compensation largely derived from the 'polluter pays' principle. For practical as well as conceptual reasons, this principle provides a weak basis for climate finance. The distinction also cuts against the need to holistically consider developmental, adaptation, and mitigation policies and naturally focuses on government-to-government flows despite the manifest need to catalyse non-official sources of ...

  1. Development of Power Assisting Suit

    Science.gov (United States)

    Yamamoto, Keijiro; Ishii, Mineo; Hyodo, Kazuhito; Yoshimitsu, Toshihiro; Matsuo, Takashi

    In order to realize a wearable power assisting suit for assisting a nurse to carry a patient in her arms, the power supply and control systems of the suit have to be miniaturized, and it has to be wireless and pipeline-less. The new wearable suit consists of shoulders, arms, back, waist and legs units to be fitted on the nurse's body. The arms, waist and legs have new pneumatic rotary actuators driven directly by micro air pumps supplied by portable Ni-Cd batteries. The muscle forces are sensed by a new muscle hardness sensor utilizing a sensing tip mounted on a force sensing film device. An embedded microcomputer is used for the calculations of control signals. The new wearable suit was applied practically to a human body and a series of movement experiments that weights in the arms were held and taken up and down was performed. Each unit of the suit could transmit assisting torque directly to each joint verifying its practicability.

  2. Efficient adders for assistive devices

    Directory of Open Access Journals (Sweden)

    Mansi Jhamb

    2017-02-01

    Full Text Available The Body sensor network [IEEE 802.15] is a wireless communication network consisting of assistive devices which are of prime importance in medical applications. The delay critical and power hungry blocks in these assistive devices are designed so that they consume less power, have low latency and require a lesser area on chip. In this paper, we present a qualitative as well as a quantitative analysis of an asynchronous pipelined adder design with two latest computation completion sensing approaches based on Pseudo NMOS logic and other based on C-element. The Pseudo NMOS based completion sensing approach provides a maximum improvement of 76.92% in critical path delay at supply voltage of 1.2 V and the maximum drop in power dissipation has been observed at a supply voltage of 1.1 V which is 85.60% as compared to C-element based completion sensing approach. Even at low voltages such as 0.8 V, there is a significant improvement in speed and power which is 75.64% and 74.79% respectively. Since the adder is the most widely used component in all present day assistive devices, this analysis acts as a pointer for the application of asynchronous pipelined circuits with efficient Pseudo NMOS based completion sensing approach in low voltage/low power rehabilitative devices.

  3. Job satisfaction of nursing assistants.

    Science.gov (United States)

    Lerner, Nancy; Resnick, Barbara; Galik, Elizabeth; Flynn, Linda

    2011-11-01

    This secondary data analysis explored factors influencing job satisfaction in a sample of nursing assistants employed in Maryland skilled nursing facilities. Multiple factors have been shown to affect job satisfaction and turnover in nursing assistants (NAs), but the problem of turnover persists in skilled nursing facility environments affecting quality of care. An existing data set of 556 nursing assistants from 12 Maryland skilled nursing facilities was used. To explore factors found to influence job satisfaction from other studies, a multiple regression analysis was performed. Nine dependent variables previously shown to affect job satisfaction were used. Of these variables, only years of experience (β = .230) and performance of restorative care (β = .095) were found to be positively associated with job satisfaction. Self-esteem (β = -.094) was found to be negatively associated with job satisfaction. Only length of experience and exemplary care as evidenced by the performance of restorative care were associated with job satisfaction. These results mirror results found in other studies. Self-esteem was negatively associated with job satisfaction in this population, a finding needing further study. Copyright © 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins

  4. Genetic parameters for fitness and neonatal behavior traits in sheep.

    Science.gov (United States)

    Matheson, S M; Bünger, L; Dwyer, C M

    2012-11-01

    Poor neonatal survival constrains productivity and good welfare. The heritability of survival in sheep is very low, suggesting that genetic progress will be slow. Previously we have shown that a difficult birth and low neonatal lamb vigor are important predictors of future survival. In this study we investigated the heritability of these traits, and their relationship to production traits, as an alternative indirect route to improve lamb survival. Neonatal lamb data from 11,092 animals were collected over 2 years from 290 commercial sheep flocks, using previously developed methods to rapidly assess three traits (birth assistance, lamb vigor, sucking ability) on farm. Heritabilities for neonatal traits were moderate: birth assistance (mean ± standard error; 0.26 ± 0.03), lamb vigor (0.40 ± 0.04) and sucking ability (0.32 ± 0.03). Genetic correlations between neonatal traits were moderate to high, and positive. Heritabilities for production traits were also moderate: 8-week weight (0.27 ± 0.06), 20-week weight (0.39 ± 0.07), ultrasound muscle depth (0.37 ± 0.06). Genetic and phenotypic correlations between the neonatal traits and production traits were not significantly different from zero. However, lambs that were scored as of poor vigor at birth were less likely to be recorded at 8 or 20 weeks, indicating that they may have died. The data demonstrate that the neonatal survival traits of birth assistance, lamb vigor and sucking assistance are moderately heritable when treated as a lamb trait, indicating that selection to target these lamb traits would successfully, and efficiently, improve survival without influencing productivity.

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

    Science.gov (United States)

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

    2015-02-01

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

  6. An Assistive Technology Design Framework for ADHD

    DEFF Research Database (Denmark)

    Sonne, Tobias; Marshall, Paul; Obel, Carsten

    2016-01-01

    In this paper, we present a design framework for ADHD assistive technologies that aims to give researchers grounding in the background research on the condition, to provide a lingua franca, and to highlight potential research directions for HCI researchers within assistive technology. The design ...... map existing assistive technologies and potential new research efforts to the framework concepts. This way we show how it is used to support and advance the research and development of novel assistive technologies for the ADHD domain....

  7. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  8. Possibilities for marker-assisted selection in aquaculture breeding schemes

    International Nuclear Information System (INIS)

    Sonesson, A.K.

    2007-01-01

    FAO estimates that there are around 200 species in aquaculture. However, only a few species have ongoing selective breeding programmes. Marker-assisted selection (MAS) is not used in any aquaculture breeding scheme today. The aim of this chapter, therefore, is to review briefly the current status of aquaculture breeding schemes and to evaluate the possibilities for MAS of aquaculture species. Genetic marker maps have been published for some species in culture. The marker density of these maps is, in general, rather low and the maps are composed of many amplified fragment length polymorphism (AFLP) markers anchored to few microsatellites. Some quantitative trait loci (QTL) have been identified for economically important traits, but they are not yet mapped at a high density. Computer simulations of within-family MAS schemes show a very high increase in genetic gain compared with conventional family-based breeding schemes, mainly due to the large family sizes that are typical for aquaculture breeding schemes. The use of genetic markers to identify individuals and their implications for breeding schemes with control of inbreeding are discussed. (author)

  9. Eugenics and genetic testing.

    Science.gov (United States)

    Holtzman, N A

    1998-01-01

    Pressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening (to identify those at risk of having affected offspring) and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics.

  10. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-01-01

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

  11. Genetics of Alcoholism.

    Science.gov (United States)

    Zhu, Ena C; Soundy, Timothy J; Hu, Yueshan

    2017-05-01

    Consuming excessive amounts of alcohol has the potential to modify an individual's brain and lead to alcohol dependence. Alcohol use leads to 88,000 deaths every year in the U.S. alone and can lead to other health issues including cancers, such as colorectal cancer, and mental health problems. While drinking behavior varies due to environmental factors, genetic factors also contribute to the risk of alcoholism. Certain genes affecting alcohol metabolism and neurotransmitters have been found to contribute to or inhibit the risk. Geneenvironment interactions may also play a role in the susceptibility of alcoholism. With a better understanding of the different components that can contribute to alcoholism, more personalized treatment could cater to the individual. This review discusses the major genetic factors and some small variants in other genes that contribute to alcoholism, as well as considers the gene-environmental interactions. Copyright© South Dakota State Medical Association.

  12. MEDICAL GENETICS AND ETHICS

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    1999-05-01

    Full Text Available Fast development of medical genetics and it’s subdisciplines is noticed in last thirty years. Modern diagnostic methods made possible to establish human genome and its impairment. In human genetics, ethic is main principle in working. Ethic is science about biggest goodness for human or society, and its aim pro­tecting human health.Today's conditions for leaving and science development open a wide way for ethical approaches, but also for non-ethical manipulations with human even before his conception. We must keep to attitude that without law, with our behavior will must conduct our conscience. It is best to have neutral eugenetic attitude, which allows free ethical choice of each individual, in any case, for the well being of man.

  13. Genetic engineering in biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Bedate, C.A.; Morales, J.C.; Lopez, E.H.

    1981-09-01

    The objective of this book is to encourage the use of genetic engineering for economic development. The report covers: (1) Precedents of genetic engineering; (2) a brief description of the technology, including the transfer of DNA in bacteria (vectors, E. coli and B. subtilis hosts, stages, and technical problems), practical examples of techniques used and their products (interferon; growth hormone; insulin; treatment of blood cells, Talasemia, and Lesch-Nyhan syndrome; and more nutritious soya), transfer to higher organisms, and cellular fusion; (3) biological risks and precautions; (4) possible applications (production of hydrogen, hydrocarbons, alcohol, chemicals, enzymes, peptides, viral antigens, monoclonal antibodies, genes, proteins, and insecticides; metal extraction; nitrogen fixation; biodegradation; and new varieties of plants and animals; and (5) international activities.

  14. Genetic discrimination: international perspectives.

    Science.gov (United States)

    Otlowski, M; Taylor, S; Bombard, Y

    2012-01-01

    Genetic discrimination (GD) is a complex, multifaceted ethical, psychosocial, and legal phenomenon. It is defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. This article presents an overview of GD within the contemporary international context. It describes the concept of GD and its contextual features, reviews research evidence regarding people's experiences of GD and the impact of GD within a range of domains, and provides an overview of legal and policy responses to GD that have emerged globally. We argue that GD is a significant and internationally established phenomenon that requires multilevel responses to ensure social justice and equitable outcomes for all citizens. Future research should monitor GD and its impacts within the community as well as institutions and should evaluate the effectiveness of legislative, policy, community education, and systemic responses.

  15. Genetically engineered yeast

    DEFF Research Database (Denmark)

    2014-01-01

    A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate semialde......A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate...... semialdehyde. The yeast may also express a 3-hydroxyisobutyrate dehydrogenase (HIBADH) and a 3-hydroxypropanoate dehydrogenase (3-HPDH) and aspartate 1-decarboxylase. Additionally the yeast may express pyruvate carboxylase and aspartate aminotransferase....

  16. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics....... The advent of new genotyping technologies has made it possible to sequence in great detail the human genome for asthma-associated variants, and accordingly, recent decades have witnessed an explosion in the number of rare and common variants associated with disease risk. This review presents an overview...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  17. Where genetic algorithms excel.

    Science.gov (United States)

    Baum, E B; Boneh, D; Garrett, C

    2001-01-01

    We analyze the performance of a genetic algorithm (GA) we call Culling, and a variety of other algorithms, on a problem we refer to as the Additive Search Problem (ASP). We show that the problem of learning the Ising perceptron is reducible to a noisy version of ASP. Noisy ASP is the first problem we are aware of where a genetic-type algorithm bests all known competitors. We generalize ASP to k-ASP to study whether GAs will achieve "implicit parallelism" in a problem with many more schemata. GAs fail to achieve this implicit parallelism, but we describe an algorithm we call Explicitly Parallel Search that succeeds. We also compute the optimal culling point for selective breeding, which turns out to be independent of the fitness function or the population distribution. We also analyze a mean field theoretic algorithm performing similarly to Culling on many problems. These results provide insight into when and how GAs can beat competing methods.

  18. Genetic aspects of artificial insemination with donor semen: the French CECOS Federation guidelines.

    Science.gov (United States)

    Jalbert, P; Leonard, C; Selva, J; David, G

    1989-06-01

    The genetic problems raised by assisted reproduction using donor gametes (AID) are numerous and often complex. They concern the legitimacy and the appropriate forms of genetic screening for both gamete donors and recipients; the identification of genetic indications justifying the use of this method of reproduction; and ascertainment of the state of health of the conceptus at birth. The experience and guidelines of the French CECOS Federation, which comprises 20 AID treatment centers, are described. The discussion emphasizes the need for an international exchange of view on this subject.

  19. Genetics of Diabetes Insipidus.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton

    2017-06-01

    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. [Genetics of ischemic stroke].

    Science.gov (United States)

    Gschwendtner, A; Dichgans, M

    2013-02-01

    Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.