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Sample records for preliminary genetic analysis

  1. A Preliminary Genetic Analysis of Complement 3 Gene and Schizophrenia.

    Directory of Open Access Journals (Sweden)

    Jianliang Ni

    Full Text Available Complement pathway activation was found to occur frequently in schizophrenia, and complement 3 (C3 plays a major role in this process. Previous studies have provided evidence for the possible role of C3 in the development of schizophrenia. In this study, we hypothesized that the gene encoding C3 (C3 may confer susceptibility to schizophrenia in Han Chinese. We analyzed 7 common single nucleotide polymorphisms (SNPs of C3 in 647 schizophrenia patients and 687 healthy controls. Peripheral C3 mRNA expression level was measured in 23 drug-naïve patients with schizophrenia and 24 controls. Two SNPs (rs1047286 and rs2250656 that deviated from Hardy-Weinberg equilibrium were excluded for further analysis. Among the remaining 5 SNPs, there was no significant difference in allele and genotype frequencies between the patient and control groups. Logistic regression analysis showed no significant SNP-gender interaction in either dominant model or recessive model. There was no significant difference in the level of peripheral C3 expression between the drug-naïve schizophrenia patients and healthy controls. In conclusion, the results of this study do not support C3 as a major genetic susceptibility factor in schizophrenia. Other factors in AP may have critical roles in schizophrenia and be worthy of further investigation.

  2. Preliminary Analysis on the Relative Solution Space Sizes for MTSP with Genetic Algorithm

    Science.gov (United States)

    Hao, Junling

    It is well known that the chromosome design is pivotal to solve the multiple traveling salesman problems with genetic algorithm. A well-designed chromosome coding can eliminate or reduce the redundant solutions. One chromosome and two chromosome design methods and a recently proposed two-part chromosome design are firstly introduced in this paper. Then the preliminary quantitative comparison analysis of the solution spaces of three different chromosome design methods is presented when the number of cities is linear with the travelers. The concept of relative solution space is proposed in order to compare the relative size of the solution spaces. The solution space of two-part chromosome design is much smaller than those of the traditional chromosome design. The result given in this paper provides a good guideline for the possible algorithmic design and engineering applications.

  3. Identification and Preliminary Analysis of the Genetic Diversity of Cenococcum geophilum Fr.

    Institute of Scientific and Technical Information of China (English)

    CHEN Li-hong; YAN Wei; XU Yan

    2007-01-01

    To identify Cenococcum geophilum Fr., estimate their genetic diversity and study the effects on their genetic variation,27 Chinese C. geophilum isolates from 6 host plant species and 5 French C. geophilum isolates were analyzed using morphological and molecular methods. The universal primers ITS1/ITS4 were used in PCR-RFLP to amplify the rDNA internal transcribed spacer (ITS) of tested C. geophilum isolates. The amplified products were digested with EcoR Ⅰ,Hinf Ⅰ, and Mbo Ⅰ, and the digested fragments of PCR products showed that there were obvious differences. A random primer (5'-CGCACCGCAC-3') was employed in RAPD to amplify the genomic DNA of C. geophilum, and 19 detectable and reliable DNA bands of 300-2 000 bp size were observed. According to the number, position, and strength of the DNA bands in agarose gel, the genetic distance and the genetic similarity among C. geophilum isolates were calculated using the PopGen Ver. 1.31 dendrogram analysis software. A phylogenetic tree was constructed based on the genetic distance by the Neighbor-Joining/UPGMA in PHYLIP. The results suggest the high level of genetic diversity among C. geophilum isolates from the same or different hosts. The effects of geographical factors or host plant species on C. geophilum genetic variation are not obvious.

  4. Preliminary analysis of population genetic diversity of cultivated Laminaria japonica sporophyte via AFLP technique

    Science.gov (United States)

    Yi, Heng; Sui, Zhenghong; Bao, Zhenmin

    2010-03-01

    The amplified fragment length polymorphic DNA (AFLP) technique was adopted to estimate the population genetic polymorphism among 30 sporophytes of Laminaria japonica collected from a cultivating farm in Rongcheng, China. Three methods were used for genomic DNA extraction from Laminaria japonica sporophyte and only the products obtained using the improved genomic DNA extraction kit method proved qualified for AFLP analysis. The parameters of the method were optimized. Samples of forty milligrams and the cell lysis time of 120 min were suggested to replace the parameters recommended by the manufacturer. Thirty individuals of Laminaria japonica from the same cultivating site were investigated using one pair of selective primers. A total of 21 loci were obtained and 17 of them were polymorphic. The mean percent age of polymorphic loci of this population was 80.95%. The Nei’s gene diversity (H) within this population was 0.3028 and the average Shannon’s Information index (I) was 0.4498. A genetic distance matrix among different individuals was constructed as well. Through this study, an applicable AFLP genetic analysis working system for Laminaria japonica sporophyte was established. The results of this research also revealed a high level of genetic diversity within the studied population.

  5. Genetic analysis and preliminary gene mapping of a novel seeding yellowleaf mutant in rice

    Directory of Open Access Journals (Sweden)

    GE Shaoxing

    2013-02-01

    Full Text Available A novel seeding yellow-leaf mutant, syl11(seedling yellow leaf 11,was found in rice mutant pool from japonica variety,Nipponbare,treated by 60Coγ-radiation.In comparison with the wild-type parent (Nipponbare,the mutant displayed the phenotype of yellow on the 2nd and 3rd leaf and began to turn green from its top before they completely expanded besides the significantly decreased contents of photosynthetic pigments,but all leaves become normal green after the 4-leaf-old stage.The genetic analysis indicated that the mutant trait was controlled by a single recessive nuclear gene.In addition,with the help of SSR,new developed InDel markers and F2 segregating population derived from the cross between the syl11 mutant and Peiai64S,the syl11 was mapped between RM26652(on the long armand ID11974(closing to the centromereon chromosome 11,with a genetic distance of 0.5cM and 0.7cM,respectively.

  6. Genetic analysis and preliminary gene mapping of a novel seeding yellow leaf mutant in rice

    Directory of Open Access Journals (Sweden)

    GE Shaoxing

    2013-02-01

    Full Text Available A novel seeding yellow-leaf mutant, syl11(seedling yellow leaf 11,was found in rice mutant pool from japonica variety,Nipponbare,treated by 60Coγ-radiation.In comparison with the wild-type parent (Nipponbare,the mutant displayed the phenotype of yellow on the 2nd and 3rd leaf and began to turn green from its top before they completely expanded besides the significantly decreased contents of photosynthetic pigments,but all leaves become normal green after the 4-leaf-old stage.The genetic analysis indicated that the mutant trait was controlled by a single recessive nuclear gene.In addition,with the help of SSR,new developed InDel markers and F2 segregating population derived from the cross between the syl11 mutant and Peiai64S,the syl11 was mapped between RM26652(on the long armand ID11974(closing to the centromereon chromosome 11,with a genetic distance of 0.5cM and 0.7cM,respectively.

  7. PRELIMINARY ANALYSIS OF COMMON LOON GENETIC STRUCTURE IN NORTH AMERICA BASED ON FIVE MICROSATELLITE LOCI

    Science.gov (United States)

    This study seeks to determine fine-scale genetic structure of Common Loon breeding populations in order to link wintering birds with their breeding regions. Common Loons are large piscivorous birds that breed in lakes of northern North America and Iceland. Loons are highly phil...

  8. Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

    Directory of Open Access Journals (Sweden)

    Giannoudis Peter V

    2011-02-01

    Full Text Available Abstract Background Despite the known multi-factorial nature of atrophic fracture non-unions, a possible genetic predisposition for the development of this complication after long bone fractures remains unknown. This pilot study aimed to address this issue by performing a preliminary SNP analysis of specific genes known to regulate fracture healing. Methods A total of fifteen SNPs within four genes of the Bone Morphogenetic Protein (BMP pathway (BMP-2, BMP-7, NOGGIN and SMAD6 were examined, in 109 randomly selected patients with long bone fractures as a result of motor vehicle accident, fall or direct blow. There were sixty-two patients with atrophic non-union and forty-seven patients (54 fractures with uneventful fracture union. Overall SNPs frequencies were computed with respect to patient's age, gender, smoking habits, fracture-associated parameters and the use of nonsteroidal anti-inflammatory drugs (NSAIDs, and tested for their association to the impaired bone healing process, using binary logistic regression (STATA 11.1; StataCorp, Texas USA. Results Statistical analysis revealed age to be an important covariate in the development of atrophic non-union (p = 0.01, OR 1.05 [per year], and two specific genotypes (G/G genotype of the rs1372857 SNP, located on NOGGIN and T/T genotype of the rs2053423 SNP, located on SMAD6 to be associated with a greater risk of fracture non-union (p = 0.02, OR 4.56 and p = 0.04, OR 10.27, respectively, after adjustment for age. Conclusions This is the first clinical study to investigate the potential existence of genetic susceptibility to fracture non-union. Even though no concrete conclusions can be obtained from this pilot study, our results indicate the existence of a potential genetically predetermined impairment within the BMP signalling cascade, initiated after a fracture and when combined with other risk factors could synergistically increase the susceptibility of a patient to develop non-union. Further

  9. Preliminary analysis of population genetics of Myotis punicus (Chiroptera: Vespertilionidae in the maltese islands: implications for its conservation

    Directory of Open Access Journals (Sweden)

    Byron Baron

    2010-08-01

    Full Text Available By combining cellulose acetate allozyme electrophoresis with a non-lethal sampling technique, it was possible to undertake a preliminary study of the population structure of Myotis punicus Felten, 1977 in the Maltese Islands. Since previous local ecological studies indicated declining numbers, it was considered important to undertake a combinatorial study including molecular genetic techniques. Twelve sites spread around the Maltese Islands were investigated and a total of 36 individuals found in four of these sites were sampled over a period of 6 months. The use of 4mm biopsy punches (a non-lethal method was adopted to obtain tissue for analysis. Morphometric data was also collected involving measurements of forearm length, ear length, tragus length, wing-span and weight. Comparison of average values for these measurements between the sexes (using chi-square at p = 0.05 gave an indication of sexual dimorphism, with females being the larger sex. A recapture rate of 19% was achieved in this study. Nei’s (1978 Genetic Identity (I showed values from 0.954 to 0.686, while Genetic Distance (D values ranged from 0 to 0.047. The results obtained in this study indicate that the population on the Maltese Islands is as yet a single panmictic unit, even though the overall FST value of 0.272 indicates that these sites are approaching the threshold beyond which there will be isolated mating systems.

    doi:10.4404/hystrix-21.1-4453

  10. UVISS preliminary visibility analysis

    DEFF Research Database (Denmark)

    Betto, Maurizio

    1998-01-01

    The goal of this work is to obtain a preliminary assessment of the sky visibility for anastronomical telescope located on the express pallet of the International SpaceStation (ISS)} taking into account the major constraints imposed on the instrument by the ISSattitude and structure. Part of the w......The goal of this work is to obtain a preliminary assessment of the sky visibility for anastronomical telescope located on the express pallet of the International SpaceStation (ISS)} taking into account the major constraints imposed on the instrument by the ISSattitude and structure. Part...

  11. UVISS preliminary visibility analysis

    DEFF Research Database (Denmark)

    Betto, Maurizio

    1998-01-01

    The goal of this work is to obtain a preliminary assessment of the sky visibility for anastronomical telescope located on the express pallet of the International SpaceStation (ISS)} taking into account the major constraints imposed on the instrument by the ISSattitude and structure. Part...

  12. Maine Coon renal screening: ultrasonographical characterisation and preliminary genetic analysis for common genes in cats with renal cysts.

    Science.gov (United States)

    Gendron, Karine; Owczarek-Lipska, Marta; Lang, Johann; Leeb, Tosso

    2013-12-01

    The objective of this study was to assess the prevalence of renal cysts and other renal abnormalities in purebred Maine Coon cats, and to characterise these through genetic typing. Voluntary pre-breeding screening programmes for polycystic kidney disease (PKD) are offered for this breed throughout Switzerland, Germany and other northern European countries. We performed a retrospective evaluation of Maine Coon screening for renal disease at one institution over an 8-year period. Renal ultrasonography was performed in 187 healthy Maine Coon cats. Renal changes were observed in 27 of these cats. Renal cysts were found in seven cats, and were mostly single and unilateral (6/7, 85.7%), small (mean 3.6 mm) and located at the corticomedullary junction (4/6, 66.7%). Sonographical changes indicating chronic kidney disease (CKD) were observed in 10/187 (5.3%) cats and changes of unknown significance were documented in 11/187 (5.9%) cats. All six cats genetically tested for PKD1 were negative for the mutation, and gene sequencing of these cats did not demonstrate any common genetic sequences. Cystic renal disease occurs with a low prevalence in Maine Coons and is unrelated to the PKD observed in Persians and related breeds. Ultrasonographical findings compatible with CKD are not uncommon in juvenile Maine Coons.

  13. Preliminary Report on Seaside Sparrow Population Genetics Project

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This is a preliminary report on a genetic variation study that was conducted at St. Vincent National Wildlife Refuge. Blood samples were taken from 57 Seaside...

  14. Concept Overview & Preliminary Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Ruth, Mark

    2017-07-12

    'H2@Scale' is an opportunity for wide-scale use of hydrogen as an intermediate that carries energy from various production options to multiple uses. It is based on identifying and developing opportunities for low-cost hydrogen production and investigating opportunities for using that hydrogen across the electricity, industrial, and transportation sectors. One of the key production opportunities is use of low-cost electricity that may be generated under high penetrations of variable renewable generators such as wind and solar photovoltaics. The technical potential demand for hydrogen across the sectors is 60 million metric tons per year. The U.S. has sufficient domestic renewable resources so that each could meet that demand and could readily meet the demand using a portfolio of generation options. This presentation provides an overview of the concept and the technical potential demand and resources. It also motivates analysis and research on H2@Scale.

  15. Genetic Analysis and Preliminary Mapping of a Highly Male-Sterile Gene in Foxtail Millet (Setaria italica L. Beauv.) Using SSR Markers

    Institute of Scientific and Technical Information of China (English)

    WANG Jun; DIAO Xian-min; GUO Ping-yi; WANG Zhi-lan; YANG Hui-qing; YUAN Feng; GUO Er-hu; TIAN Gang; AN Yuan-huai; LI Hui-xia; WANG Yu-wen

    2013-01-01

    Breeding of male-sterile lines has become the mainstream for the heterosis utilization in foxtail millet, but the genetic basis of most male-sterile lines used for the hybrid is still an area to be elucidated. In this study, a highly male-sterile line Gao146A was investigated. Genetic analysis indicated that the highly male-sterile phenotype was controlled by a single recessive gene a single recessive gene. Using F2 population derived from cross Gao146A/K103, one gene controlling the highly male-sterility, tentatively named asms1, which linked to SSR marker b234 with genetic distance of 16.7 cM, was mapped on the chromosome VI. These results not only laid the foundation for ifne mapping of this highly male-sterile gene, but also helped to accelerate the improvement of highly male-sterile lines by using molecular marker assisted breeding method.

  16. Preliminary hazards analysis -- vitrification process

    Energy Technology Data Exchange (ETDEWEB)

    Coordes, D.; Ruggieri, M.; Russell, J.; TenBrook, W.; Yimbo, P. [Science Applications International Corp., Pleasanton, CA (United States)

    1994-06-01

    This paper presents a Preliminary Hazards Analysis (PHA) for mixed waste vitrification by joule heating. The purpose of performing a PHA is to establish an initial hazard categorization for a DOE nuclear facility and to identify those processes and structures which may have an impact on or be important to safety. The PHA is typically performed during and provides input to project conceptual design. The PHA is then followed by a Preliminary Safety Analysis Report (PSAR) performed during Title 1 and 2 design. The PSAR then leads to performance of the Final Safety Analysis Report performed during the facility`s construction and testing. It should be completed before routine operation of the facility commences. This PHA addresses the first four chapters of the safety analysis process, in accordance with the requirements of DOE Safety Guidelines in SG 830.110. The hazards associated with vitrification processes are evaluated using standard safety analysis methods which include: identification of credible potential hazardous energy sources; identification of preventative features of the facility or system; identification of mitigative features; and analyses of credible hazards. Maximal facility inventories of radioactive and hazardous materials are postulated to evaluate worst case accident consequences. These inventories were based on DOE-STD-1027-92 guidance and the surrogate waste streams defined by Mayberry, et al. Radiological assessments indicate that a facility, depending on the radioactive material inventory, may be an exempt, Category 3, or Category 2 facility. The calculated impacts would result in no significant impact to offsite personnel or the environment. Hazardous materials assessment indicates that a Mixed Waste Vitrification facility will be a Low Hazard facility having minimal impacts to offsite personnel and the environment.

  17. Genetic Variation A mong European Lophodermium piceae Populations - Preliminary Results

    Directory of Open Access Journals (Sweden)

    MÜLLER, Michael M.

    2007-01-01

    Full Text Available Lophodermium piceae is a common needle endophyte of Norway spruce (Picea abies. The aim of the present study was to examine the degree of differentiation within and among European populations separated by various distances and geographical obstacles. For this purpose, populations (including > 10 isolates/subpopulation were collected along a north-south transect stretching from the northern timberline in Finnish Lapland to the southern border of the distribution area of Norway spruce in northern Italy. Differentiation between L. piceae populations was determined from DNA sequences of three genetic markers. One of the markers was the internal transcribed spacer (ITS of the ribosomal DNA and the other two (LP1 and LP2 were based on sequence characterized amplified regions (SCAR designed for L. piceae. Preliminary results including sequences of Finnish, Swiss and Italian isolates show low differentiation among populations. According to analysis of molecular variance the among population variation was 1%, 5% and 0% in ITS, LP1 and LP2 markers, respectively.

  18. A preliminary examination of genetic diversity in the Indian false vampire bat Megaderma lyra

    Directory of Open Access Journals (Sweden)

    Emmanuvel Rajan, K.

    2006-12-01

    Full Text Available Habitat loss and fragmentation have serious consequences for species extinction as well as genetic diversity within a species. Random Amplified Polymorphic DNA (RAPD analysis was employed to assess the genetic diversity within and between four natural populations of M. lyra. Our results suggest that the genetic diversity varied from 0.21 to 0.26 with a mean of 0.11 to 0.13 (± SD. The mean Gst value of 0.15 was obtained from all four populations and estimated average Nm (1.41 showing gene flow between the populations. AMOVA analysis showed 88.96% within and 11.04% among the studied populations. Cluster analyses of RAPD phenotypes showed that specimens were not grouped by geographical origin. The genetic diversity found in the M. lyra population may be explained by its breeding behaviors. Though preliminary, the results indicate that all four populations should be considered to maintain the genetic diversity.

  19. Genetic Analysis and Preliminary Mapping of Two Recessive Resistance Genes to Brown Planthopper, Nilaparvata lugens St(a)l in Rice

    Institute of Scientific and Technical Information of China (English)

    Hou Li-yuan; PENG Suo-tang; WEI Xing-hua; Yu Ping; XU Qun; YUAN Xiao-ping; Yu Han-yong; WANG Yi-ping; WANG Cai-hong; WAN Guo; TANG Sheng-xiang

    2011-01-01

    An F2 population derived from the cross of WB01,an introgression line resistant to brown planthopper (BPH) originated from Oryza rufipogon Griff.and a susceptible indica variety 9311,was developed for genetic analysis and gene mapping.The population with 303 Fz:3 families was genotyped by 141 simple sequence repeat (SSR) markers and used for gene mapping.Two softwares,Mapmaker/Exp 3.0 and Windows QTL Cartographer V2.0 were applied to detect QTLs.Totally,two QTLs resistant to BPH,named temporarily as bph22(t) and bph23(t),were identified to locate on chromosomes 4 and 8,individually had LOD values of 2.92and 3.15,and explained 11.3% and 14.9% of the phenotypic variation,respectively.

  20. The Refinement of The Preliminary Genetic Decomposition of Group

    Science.gov (United States)

    Wijayanti, K.

    2017-04-01

    Mathematics proof is one of the characteristics of advanced mathematics thinking, and proof plays an important role in learning the abstract algebra included group theory. The depth and complexity of individual’s understanding of a concept depend on his/her ability to establish connections among the mental structure that constitute it. One of the cognitive styles is field dependent/independent. Field independent (FI) and field dependent (FD) learners have different characteristics. Our research question is (1)How is the proposed refinement of preliminary genetic decomposition of group that is designed with a preliminary study of the learning with APOS works; (2) What understanding about group that is generated by student (Field Independent, Field Neutral, and Field Dependent) when learning through designed material. This study was a descriptive qualitative. The participants of this study were nine (9) undergraduate students who were taking Introduction of Algebraic Structure 1, which included group, in the even semester of academic year 2015/2016 at Universitas Negeri Semarang. Each of type of cognitive styles consisted of 3 participants. There were two instruments used to gather data: written examination in the course and a set of the interview. The FD and FN participants generated Action for a binary operation. The FI participant generated Action and Process for a binary operation. The FD, FN and FI participants generated Action, Process, Object, and Scheme for the set. The FD and FN participant did not generate mental structure for axiom. The FI participant generated Scheme for axiom. The FD, FN and FI participants tend to have no Coherence of Scheme of the group. Not all mental structure on the refinement of the preliminary genetic decomposition can be constructed by participants so well that there are still obstacles in the process of proving.

  1. Hydrothermal Liquefaction Treatment Preliminary Hazard Analysis Report

    Energy Technology Data Exchange (ETDEWEB)

    Lowry, Peter P.; Wagner, Katie A.

    2015-08-31

    A preliminary hazard assessment was completed during February 2015 to evaluate the conceptual design of the modular hydrothermal liquefaction treatment system. The hazard assessment was performed in 2 stages. An initial assessment utilizing Hazard Identification and Preliminary Hazards Analysis (PHA) techniques identified areas with significant or unique hazards (process safety-related hazards) that fall outside of the normal operating envelope of PNNL and warranted additional analysis. The subsequent assessment was based on a qualitative What-If analysis. This analysis was augmented, as necessary, by additional quantitative analysis for scenarios involving a release of hazardous material or energy with the potential for affecting the public.

  2. The genetic variability of the Podolica cattle breed from the Gargano area. Preliminary results

    Directory of Open Access Journals (Sweden)

    Dario Cianci

    2010-01-01

    Full Text Available The Podolica cattle breed is autochthonous of Southern Italy and denoted by its particular rusticity. This study presents the preliminary results of the genetic characterization of the Podolica breed using DNA STR markers. A total of 20 microsatellite loci were analysed in 79 individuals reared in the Gargano area. Number of polymorphisms, allele fre- quencies, deviations from Hardy-Weinberg proportions, linkage disequilibrium between loci and genetic similarities between animals were calculated. The results showed a high deficiency of heterozygotes, the observed mean of het- erozygosis being 0.449, whereas the expected mean was 0.766. Many markers showed also deviations from the Hardy- Weinberg proportions and significant linkage disequilibrium between loci. However the genetic similarity within the pop- ulation was low (0.281 and the average number of alleles per locus was high (10, representing a high genetic vari- ability. In order to explain these results, a stratification of the breed in sub-populations with a high interior genetic homo- geneity but markedly differentiated one from each other could be hypothesized; this situation probably derived from non- random mating within each herd (consanguinity and from the lack of exchange of genetic material between the herds. A further study is needed on a wider sample and extending the analysis to FAO-ISAG microsatellite panel in order to con- firm this hypothesis. This could eventually provide the information necessary for the correct management of the repro- ductive schemes and for genomic traceability of meat production.

  3. Preliminary safety analysis methodology for the SMART

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Kyoo Hwan; Chung, Y. J.; Kim, H. C.; Sim, S. K.; Lee, W. J.; Chung, B. D.; Song, J. H. [Korea Atomic Energy Research Institute, Taejeon (Korea)

    2000-03-01

    This technical report was prepared for a preliminary safety analysis methodology of the 330MWt SMART (System-integrated Modular Advanced ReacTor) which has been developed by Korea Atomic Energy Research Institute (KAERI) and funded by the Ministry of Science and Technology (MOST) since July 1996. This preliminary safety analysis methodology has been used to identify an envelope for the safety of the SMART conceptual design. As the SMART design evolves, further validated final safety analysis methodology will be developed. Current licensing safety analysis methodology of the Westinghouse and KSNPP PWRs operating and under development in Korea as well as the Russian licensing safety analysis methodology for the integral reactors have been reviewed and compared to develop the preliminary SMART safety analysis methodology. SMART design characteristics and safety systems have been reviewed against licensing practices of the PWRs operating or KNGR (Korean Next Generation Reactor) under construction in Korea. Detailed safety analysis methodology has been developed for the potential SMART limiting events of main steam line break, main feedwater pipe break, loss of reactor coolant flow, CEA withdrawal, primary to secondary pipe break and the small break loss of coolant accident. SMART preliminary safety analysis methodology will be further developed and validated in parallel with the safety analysis codes as the SMART design further evolves. Validated safety analysis methodology will be submitted to MOST as a Topical Report for a review of the SMART licensing safety analysis methodology. Thus, it is recommended for the nuclear regulatory authority to establish regulatory guides and criteria for the integral reactor. 22 refs., 18 figs., 16 tabs. (Author)

  4. Combining microarrays and genetic analysis

    NARCIS (Netherlands)

    Alberts, Rudi; Fu, Jingyuan; Swertz, Morris A.; Lubbers, L. Alrik; Albers, Casper J.; Jansen, Ritsert C.

    2005-01-01

    Gene expression can be studied at a genome-wide scale with the aid of modern microarray technologies. Expression profiling of tens to hundreds of individuals in a genetic population can reveal the consequences of genetic variation. In this paper it is argued that the design and analysis of such a

  5. Combining microarrays and genetic analysis

    NARCIS (Netherlands)

    Alberts, Rudi; Fu, Jingyuan; Swertz, Morris A.; Lubbers, L. Alrik; Albers, Casper J.; Jansen, Ritsert C.

    2005-01-01

    Gene expression can be studied at a genome-wide scale with the aid of modern microarray technologies. Expression profiling of tens to hundreds of individuals in a genetic population can reveal the consequences of genetic variation. In this paper it is argued that the design and analysis of such a st

  6. Preliminary Analysis of Google+'s Privacy

    OpenAIRE

    2011-01-01

    In this paper we provide a preliminary analysis of Google+ privacy. We identified that Google+ shares photo metadata with users who can access the photograph and discuss its potential impact on privacy. We also identified that Google+ encourages the provision of other names including maiden name, which may help criminals performing identity theft. We show that Facebook lists are a superset of Google+ circles, both functionally and logically, even though Google+ provides a better user interfac...

  7. Preliminary Hazards Analysis Plasma Hearth Process

    Energy Technology Data Exchange (ETDEWEB)

    Aycock, M.; Coordes, D.; Russell, J.; TenBrook, W.; Yimbo, P. [Science Applications International Corp., Pleasanton, CA (United States)

    1993-11-01

    This Preliminary Hazards Analysis (PHA) for the Plasma Hearth Process (PHP) follows the requirements of United States Department of Energy (DOE) Order 5480.23 (DOE, 1992a), DOE Order 5480.21 (DOE, 1991d), DOE Order 5480.22 (DOE, 1992c), DOE Order 5481.1B (DOE, 1986), and the guidance provided in DOE Standards DOE-STD-1027-92 (DOE, 1992b). Consideration is given to ft proposed regulations published as 10 CFR 830 (DOE, 1993) and DOE Safety Guide SG 830.110 (DOE, 1992b). The purpose of performing a PRA is to establish an initial hazard categorization for a DOE nuclear facility and to identify those processes and structures which may have an impact on or be important to safety. The PHA is typically performed during and provides input to project conceptual design. The PRA then is followed by a Preliminary Safety Analysis Report (PSAR) performed during Title I and II design. This PSAR then leads to performance of the Final Safety Analysis Report performed during construction, testing, and acceptance and completed before routine operation. Radiological assessments indicate that a PHP facility, depending on the radioactive material inventory, may be an exempt, Category 3, or Category 2 facility. The calculated impacts would result in no significant impact to offsite personnel or the environment. Hazardous material assessments indicate that a PHP facility will be a Low Hazard facility having no significant impacts either onsite or offsite to personnel and the environment.

  8. Preliminary genetic linkage maps of Chinese herb Dendrobium nobile and D. moniliforme

    Indian Academy of Sciences (India)

    Shangguo Feng; Hongyan Zhao; Jiangjie Lu; Junjun Liu; Bo Shen; Huizhong Wang

    2013-08-01

    Dendrobium is an endangered genus in the orchid family with medicinal and horticultural value. Two preliminary genetic linkage maps were constructed using 90 F1 progeny individuals derived from an interspecific cross between D. nobile and D. moniliforme (both, $2n = 38$), using random amplified polymorphic DNA (RAPD) and intersimple sequence repeat (ISSR). A total of 286 RAPD loci and 68 ISSR loci were identified and used for genetic linkage analysis. Maps were constructed by double pseudo-testcross mapping strategy using the software Mapmaker/EXP ver. 3.0, and Kosambi map distances were constructed using a LOD score ≥4 and a recombination threshold of 0.4. The resulting frame map of D. nobile was 1474 cM in total length with 116 loci distributed in 15 linkage groups; and the D. moniliforme linkage map had 117 loci placed in 16 linkage groups spanning 1326.5 cM. Both maps showed 76.91% and 73.59% genome coverage for D. nobile and D. moniliforme, respectively. These primary maps provide an important basis for genetic studies and further medicinal and horticultural traits mapping and marker-assisted selection in Dendrobium breeding programmes.

  9. Monte Carlo comparison of preliminary methods for ordering multiple genetic loci.

    Science.gov (United States)

    Olson, J M; Boehnke, M

    1990-09-01

    We carried out a simulation study to compare the power of eight methods for preliminary ordering of multiple genetic loci. Using linkage groups of six loci and a simple pedigree structure, we considered the effects on method performance of locus informativity, interlocus spacing, total distance along the chromosome, and sample size. Method performance was assessed using the mean rank of the true order, the proportion of replicates in which the true order was the best order, and the number of orders that needed to be considered for subsequent multipoint linkage analysis in order to include the true order with high probability. A new method which maximizes the sum of adjacent two-point maximum lod scores divided by the equivalent number of informative meioses and the previously described method which minimizes the sum of adjacent recombination fraction estimates were found to be the best overall locus-ordering methods for the situations considered, although several other methods also performed well.

  10. A Preliminary Genetic Investigation of Rastrelliger Kanagurta Based on Random Amplified Polymorphic DNA and Mitochondrial ND2 Gene

    Institute of Scientific and Technical Information of China (English)

    Siti Azizah Mohd Nor; Abu Talib A; Mohd Ghows M A; Samsudin B

    2008-01-01

    In a preliminary investigation, Random Amplified Polymorphie DNA (RAPD) analysis and partial mitochon-drial ND2 gene sequencing were conducted to study the genetic variation of the Indian mackerel, Rastrelliger kanagurta along a 450 km stretch of its distribution on the west coast of Peninsular Malaysia. A total of 53 individuals from 6 popu-lations were analyzed using 4 RAPD primers and a sub-sample of 15 individuals was chosen for sequencing of partial ND2 gene. Comparison between the 2 markers revealed genetic structuring in the RAPD results but genetic homogeneity for ND2 gene. Based on the former there may be at least 2 genetically differentiated groups of Rastrelliger kanagurta a-long this stretch.

  11. Repository Subsurface Preliminary Fire Hazard Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Richard C. Logan

    2001-07-30

    This fire hazard analysis identifies preliminary design and operations features, fire, and explosion hazards, and provides a reasonable basis to establish the design requirements of fire protection systems during development and emplacement phases of the subsurface repository. This document follows the Technical Work Plan (TWP) (CRWMS M&O 2001c) which was prepared in accordance with AP-2.21Q, ''Quality Determinations and Planning for Scientific, Engineering, and Regulatory Compliance Activities''; Attachment 4 of AP-ESH-008, ''Hazards Analysis System''; and AP-3.11Q, ''Technical Reports''. The objective of this report is to establish the requirements that provide for facility nuclear safety and a proper level of personnel safety and property protection from the effects of fire and the adverse effects of fire-extinguishing agents.

  12. [A preliminary exploration into medical genetics teaching to international students].

    Science.gov (United States)

    Chen, Cao-Yi; Zhao, Xiang-Qiang; Xie, Xiao-Ling; Tan, Xiang-Ling

    2008-12-01

    Medical education to international students has become an important part of higher education in China. Medical genetics is an essential and required course for international medical students. However, the internationalization of higher education in China has challenged the traditional teaching style of medical genetics. In this article, we discussed current situation and challenges in medical genetics teaching to international students, summarized special features and problems we encountered in teaching Indian students, and proposed some practical strategies to address these challenges and to improve the teaching.

  13. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling....

  14. Primate phylogeny studied by comparative determinant analysis. A preliminary report.

    Science.gov (United States)

    Bauer, K

    1993-01-01

    In this preliminary report the divergence times for the major primate groups are given, calculated from a study by comparative determinant analysis of 69 proteins (equaling 0.1% of the whole genetic information). With an origin of the primate order set at 80 million years before present, the ages of the last common ancestors (LCAs) of man and the major primate groups obtained this way are as follows: Pan troglodytes 5.2; Gorilla gorilla 7.4; Pongo pygmaeus 19.2; Hylobates lar 20.3; Old World monkeys 31.4; Lagothrix lagotricha 46.0; Cebus albifrons 59.5; three lemur species 67.0, and Galago crassicaudatus 73.3 million years. The LCA results and the approach are shortly discussed. A full account of this extended investigation including results on nonprimate mammals and on the determinant structures and the immunologically derived evolutionary rates of the proteins analyzed will be published elsewhere.

  15. Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales.

    Science.gov (United States)

    McDonald, Kevin; Higgs, Gary; Iredale, Rachel; Tempest, Vanessa; Gray, Jonathon

    2004-11-01

    This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, sigma = -0.38). There is also a weak positive relationship between average settlement size and referral rates (sigma = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

  16. Perinatal complications and genetic loading in schizophrenia: preliminary findings.

    Science.gov (United States)

    Schwarzkopf, S B; Nasrallah, H A; Olson, S C; Coffman, J A; McLaughlin, J A

    1989-03-01

    History of perinatal complications (PCs) and first degree family history (FH) of psychiatric illness were examined in groups of schizophrenic/schizoaffective (n = 21) and bipolar (n = 10) patients. PCs were significantly more frequent in the schizophrenic and schizoaffective patients than in bipolar patients. An inverse relationship was found between PCs and FH status, with FH-positive patients having significantly fewer PCs than the FH-negative group. This relationship persisted when the bipolar patients were excluded. Findings emphasize the etiological importance of genetics and perinatal events in the psychoses, and support the validity of a familial/sporadic distinction.

  17. BASE Flexible Array Preliminary Lithospheric Structure Analysis

    Science.gov (United States)

    Yeck, W. L.; Sheehan, A. F.; Anderson, M. L.; Siddoway, C. S.; Erslev, E.; Harder, S. H.; Miller, K. C.

    2009-12-01

    The Bighorns Arch Seismic Experiment (BASE) is a Flexible Array experiment integrated with EarthScope. The goal of BASE is to develop a better understanding of how basement-involved foreland arches form and what their link is to plate tectonic processes. To achieve this goal, the crustal structure under the Bighorn Mountain range, Bighorn Basin, and Powder River Basin of northern Wyoming and southern Montana are investigated through the deployment of 35 broadband seismometers, 200 short period seismometers, 1600 “Texan” instruments using active sources and 800 “Texan” instruments monitoring passive sources, together with field structural analysis of brittle structures. The novel combination of these approaches and anticipated simultaneous data inversion will give a detailed structural crustal image of the Bighorn region at all levels of the crust. Four models have been proposed for the formation of the Bighorn foreland arch: subhorizontal detachment within the crust, lithospheric buckling, pure shear lithospheric thickening, and fault blocks defined by lithosphere-penetrating thrust faults. During the summer of 2009, we deployed 35 broadband instruments, which have already recorded several magnitude 7+ teleseismic events. Through P wave receiver function analysis of these 35 stations folded in with many EarthScope Transportable Array stations in the region, we present a preliminary map of the Mohorovicic discontinuity. This crustal map is our first test of how the unique Moho geometries predicted by the four hypothesized models of basement involved arches fit seismic observations for the Bighorn Mountains. In addition, shear-wave splitting analysis for our first few recorded teleseisms helps us determine if strong lithospheric deformation is preserved under the range. These analyses help lead us to our final goal, a complete 4D (3D spatial plus temporal) lithospheric-scale model of arch formation which will advance our understanding of the mechanisms

  18. Arthritis Genetics Analysis Aids Drug Discovery

    Science.gov (United States)

    ... Matters NIH Research Matters January 13, 2014 Arthritis Genetics Analysis Aids Drug Discovery An international research team ... may play a role in triggering the disease. Genetic factors are also thought to play a role. ...

  19. Dual-fuel, dual-throat engine preliminary analysis

    Science.gov (United States)

    Obrien, C. J.

    1979-01-01

    A propulsion system analysis of the dual fuel, dual throat engine for launch vehicle applications was conducted. Basic dual throat engine characterization data were obtained to allow vehicle optimization studies to be conducted. A preliminary baseline engine system was defined.

  20. GENETIC ANALYSIS OF ABSCISIC ACID BIOSYNTHESIS

    Energy Technology Data Exchange (ETDEWEB)

    MCCARTY D R

    2012-01-10

    The carotenoid cleavage dioxygenases (CCD) catalyze synthesis of a variety of apo-carotenoid secondary metabolites in plants, animals and bacteria. In plants, the reaction catalyzed by the 11, 12, 9-cis-epoxy carotenoid dioxygenase (NCED) is the first committed and key regulated step in synthesis of the plant hormone, abscisic acid (ABA). ABA is a key regulator of plant stress responses and has critical functions in normal root and seed development. The molecular mechanisms responsible for developmental control of ABA synthesis in plant tissues are poorly understood. Five of the nine CCD genes present in the Arabidopsis genome encode NCED's involved in control of ABA synthesis in the plant. This project is focused on functional analysis of these five AtNCED genes as a key to understanding developmental regulation of ABA synthesis and dissecting the role of ABA in plant development. For this purpose, the project developed a comprehensive set of gene knockouts in the AtNCED genes that facilitate genetic dissection of ABA synthesis. These mutants were used in combination with key molecular tools to address the following specific objectives: (1) the role of ABA synthesis in root development; (2) developmental control of ABA synthesis in seeds; (3) analysis of ATNCED over-expressers; (4) preliminary crystallography of the maize VP14 protein.

  1. Monte Carlo comparison of preliminary methods for ordering multiple genetic loci.

    OpenAIRE

    Olson, J.M.; Boehnke, M

    1990-01-01

    We carried out a simulation study to compare the power of eight methods for preliminary ordering of multiple genetic loci. Using linkage groups of six loci and a simple pedigree structure, we considered the effects on method performance of locus informativity, interlocus spacing, total distance along the chromosome, and sample size. Method performance was assessed using the mean rank of the true order, the proportion of replicates in which the true order was the best order, and the number of ...

  2. Genetic expression signatures of oral submucous fibrosis and oral cancer—A preliminary microarray report

    Directory of Open Access Journals (Sweden)

    Pao-Hsin Liao

    2016-12-01

    Conclusion: The distinct but similar genetic expression signatures seen in OSF and SCC suggested that this expression may be used as a supplemental diagnostic tool in pathology practice. This preliminary study showed that the XRCC5 gene promoted GNM cell growth and conferred resistance to low-density X-ray irradiation. Further studies on the effect of XRCC5 in oral cancer cells are in progress.

  3. Genetic analysis of bleeding disorders.

    Science.gov (United States)

    Edison, E; Konkle, B A; Goodeve, A C

    2016-07-01

    Molecular genetic analysis of inherited bleeding disorders has been practised for over 30 years. Technological changes have enabled advances, from analyses using extragenic linked markers to next-generation DNA sequencing and microarray analysis. Two approaches for genetic analysis are described, each suiting their environment. The Christian Medical Centre in Vellore, India, uses conformation-sensitive gel electrophoresis mutation screening of multiplexed PCR products to identify candidate mutations, followed by Sanger sequencing confirmation of variants identified. Specific analyses for F8 intron 1 and 22 inversions are also undertaken. The MyLifeOurFuture US project between the American Thrombosis and Hemostasis Network, the National Hemophilia Foundation, Bloodworks Northwest and Biogen uses molecular inversion probes (MIP) to capture target exons, splice sites plus 5' and 3' sequences and to detect F8 intron 1 and 22 inversions. This allows screening for all F8 and F9 variants in one sequencing run of multiple samples (196 or 392). Sequence variants identified are subsequently confirmed by a diagnostic laboratory. After having identified variants in genes of interest through these processes, a systematic procedure determining their likely pathogenicity should be applied. Several scientific societies have prepared guidelines. Systematic analysis of the available evidence facilitates reproducible scoring of likely pathogenicity. Documentation of frequency in population databases of variant prevalence and in locus-specific mutation databases can provide initial information on likely pathogenicity. Whereas null mutations are often pathogenic, missense and splice site variants often require in silico analyses to predict likely pathogenicity and using an accepted suite of tools can help standardize their documentation.

  4. Microsatellite data analysis for population genetics.

    Science.gov (United States)

    Kim, Kyung Seok; Sappington, Thomas W

    2013-01-01

    Theories and analytical tools of population genetics have been widely applied for addressing various questions in the fields of ecological genetics, conservation biology, and any context where the role of dispersal or gene flow is important. Underlying much of population genetics is the analysis of variation at selectively neutral marker loci, and microsatellites continue to be a popular choice of marker. In recent decades, software programs to estimate population genetics parameters have been developed at an increasing pace as computational science and theoretical knowledge advance. Numerous population genetics software programs are presently available to analyze microsatellite genotype data, but only a handful are commonly employed for calculating parameters such as genetic variation, genetic structure, patterns of spatial and temporal gene flow, population demography, individual population assignment, and genetic relationships within and between populations. In this chapter, we introduce statistical analyses and relevant population genetic software programs that are commonly employed in the field of population genetics and molecular ecology.

  5. Microsatellite data analysis for population genetics

    Science.gov (United States)

    Theories and analytical tools of population genetics have been widely applied for addressing various questions in the fields of ecological genetics, conservation biology, and any context where the role of dispersal or gene flow is important. Underlying much of population genetics is the analysis of ...

  6. Genetic analysis of environmental variation

    NARCIS (Netherlands)

    Hill, W.G.; Mulder, H.A.

    2010-01-01

    Environmental variation (VE) in a quantitative trait – variation in phenotype that cannot be explained by genetic variation or identifiable genetic differences – can be regarded as being under some degree of genetic control. Such variation may be either between repeated expressions of the same trait

  7. Genetic analysis of environmental variation

    NARCIS (Netherlands)

    Hill, W.G.; Mulder, H.A.

    2010-01-01

    Environmental variation (VE) in a quantitative trait – variation in phenotype that cannot be explained by genetic variation or identifiable genetic differences – can be regarded as being under some degree of genetic control. Such variation may be either between repeated expressions of the same trait

  8. Genetic and Molecular Network Analysis of Behavior

    OpenAIRE

    Williams, Robert W.; Mulligan, Megan K.

    2012-01-01

    This chapter provides an introduction into the genetic control and analysis of behavioral variation using powerful online resources. We introduce you to the new field of systems genetics using "case studies" drawn from the world of behavioral genetics that exploit populations of genetically diverse lines of mice. These lines differ very widely in patterns of gene and protein expression in the brain and in patterns of behavior. In this chapter we address the following set of related questions:...

  9. [Tuscan Chronic Care Model: a preliminary analysis].

    Science.gov (United States)

    Barbato, Angelo; Meggiolaro, Angela; Rossi, Luigi; Fioravanti, C; Palermita, F; La Torre, Giuseppe

    2015-01-01

    the aim of this study is to present a preliminary analysis of efficacy and effectiveness of a model of chronically ill care (Chronic Care Model, CCM). the analysis took into account 106 territorial modules, 1016 General Practitioners and 1,228,595 patients. The diagnostic and therapeutic pathways activated (PDTA), involved four chronic conditions, selected according to the prevalence and incidence, in Tuscany Region: Diabetes Mellitus (DM), Heart Failure (SC), Chronic Obstructive Pulmonary Disease (COPD) and stroke. Six epidemiological indicators of process and output were selected, in order to measure the model of care performed, before and after its application: adherence to specific follow-up for each pathology (use of clinical and laboratory indicators), annual average of expenditure per/capita/euro for diagnostic tests, in laboratory and instrumental, average expenditure per/capita/year for specialist visits; hospitalization rate for diseases related to the main pathology, hospitalization rate for long-term complications and rate of access to the emergency department (ED). Data were collected through the database; the differences before and after the intervention and between exposed and unexposed, were analyzed by method "Before-After (Controlled and Uncontrolled) Studies". The impact of the intervention was calculated as DD (difference of the differences). DM management showed an increased adhesion to follow-up (DD: +8.1%), and the use of laboratory diagnostics (DD: +4,9 €/year/pc), less hospitalization for long-term complications and for endocrine related diseases (DD respectively: 5.8/1000 and DD: +1.2/1000), finally a smaller increase of access to PS (DD: -1.6/1000), despite a slight increase of specialistic visits (DD: +0,38 €/year/pc). The management of SC initially showed a rising adherence to follow-up (DD: +2.3%), a decrease of specialist visits (DD:E 1.03 €/year/pc), hospitalization and access to PS for exacerbations (DD: -4.4/1000 and DD: -6

  10. Gene set analysis for interpreting genetic studies

    DEFF Research Database (Denmark)

    Pers, Tune H

    2016-01-01

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

  11. Preliminary safety design analysis of KALIMER

    Energy Technology Data Exchange (ETDEWEB)

    Suk, Soo Dong; Kwon, Y. M.; Kim, K. D. [Korea Atomic Energy Research Institute, Taejon (Korea)

    1999-03-01

    The national long-term R and D program updated in 1997 requires Korea Atomic Energy Research Institute(KAERI) to complete by the year 2006 the basic design of Korea Advanced Liquid Metal Reactor (KALIMER), along with supporting R and D work, with the capability of resolving the issue of spent fuel storage as well as with significantly enhanced safety. KALIMER is a 150 MWe pool-type sodium cooled prototype reactor that uses metallic fuel. The conceptual design is currently under way to establish a self consistent design meeting a set of the major safety design requirements for accident prevention. Some of current emphasis include those for inherent and passive means of negative reactivity insertion and decay heat removal, high shutdown reliability, prevention of and protection from sodium chemical reaction, and high seismic margin, among others. All of these requirements affect the reactor design significantly and involve supporting R and D programs of substance. This document first introduces a set of safety design requirements and accident evaluation criteria established for the conceptual design of KALIMER and then summarizes some of the preliminary results of engineering and design analyses performed for the safety of KALIMER. 19 refs., 19 figs., 6 tabs. (Author)

  12. Preliminary analysis of patent trends for magnetic fusion technology

    Energy Technology Data Exchange (ETDEWEB)

    Levine, L.O.; Ashton, W.B.; Campbell, R.S.

    1984-02-01

    This study presents a preliminary analysis of development trends in magnetic fusion technology based on data from US patents. The research is limited to identification and description of general patent activity and ownership characteristics for 373 patents. The results suggest that more detailed studies of fusion patents could provide useful R and D planning information.

  13. Preliminary analysis of alternative fuel cycles for proliferation evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Steindler, M. J.; Ripfel, H. C.F.; Rainey, R. H.

    1977-01-01

    The ERDA Division of Nuclear Research and Applications proposed 67 nuclear fuel cycles for assessment as to their nonproliferation potential. The object of the assessment was to determine which fuel cycles pose inherently low risk for nuclear weapon proliferation while retaining the major benefits of nuclear energy. This report is a preliminary analysis of these fuel cycles to develop the fuel-recycle data that will complement reactor data, environmental data, and political considerations, which must be included in the overall evaluation. This report presents the preliminary evaluations from ANL, HEDL, ORNL, and SRL and is the basis for a continuing in-depth study. (DLC)

  14. Preliminary Integrated Safety Analysis Status Report

    Energy Technology Data Exchange (ETDEWEB)

    D. Gwyn

    2001-04-01

    This report provides the status of the potential Monitored Geologic Repository (MGR) Integrated Safety Analysis (EA) by identifying the initial work scope scheduled for completion during the ISA development period, the schedules associated with the tasks identified, safety analysis issues encountered, and a summary of accomplishments during the reporting period. This status covers the period from October 1, 2000 through March 30, 2001.

  15. Genetic analysis of rare disorders

    DEFF Research Database (Denmark)

    van den Berg, Stéphanie M; von Bornemann Hjelmborg, Jacob

    2012-01-01

    Twin concordance rates provide insight into the possibility of a genetic background for a disease. These concordance rates are usually estimated within a frequentistic framework. Here we take a Bayesian approach. For rare diseases, estimation methods based on asymptotic theory cannot be applied due...

  16. Integrated analysis of genetic data with R

    Directory of Open Access Journals (Sweden)

    Zhao Jing

    2006-01-01

    Full Text Available Abstract Genetic data are now widely available. There is, however, an apparent lack of concerted effort to produce software systems for statistical analysis of genetic data compared with other fields of statistics. It is often a tremendous task for end-users to tailor them for particular data, especially when genetic data are analysed in conjunction with a large number of covariates. Here, R http://www.r-project.org, a free, flexible and platform-independent environment for statistical modelling and graphics is explored as an integrated system for genetic data analysis. An overview of some packages currently available for analysis of genetic data is given. This is followed by examples of package development and practical applications. With clear advantages in data management, graphics, statistical analysis, programming, internet capability and use of available codes, it is a feasible, although challenging, task to develop it into an integrated platform for genetic analysis; this will require the joint efforts of many researchers.

  17. Molecular genetic analysis of activation-tagged transcription factors thought to be involved in photomorphogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Neff, Michael M.

    2011-06-23

    This is a final report for Department of Energy Grant No. DE-FG02-08ER15927 entitled “Molecular Genetic Analysis of Activation-Tagged Transcription Factors Thought to be Involved in Photomorphogenesis”. Based on our preliminary photobiological and genetic analysis of the sob1-D mutant, we hypothesized that OBP3 is a transcription factor involved in both phytochrome and cryptochrome-mediated signal transduction. In addition, we hypothesized that OBP3 is involved in auxin signaling and root development. Based on our preliminary photobiological and genetic analysis of the sob2-D mutant, we also hypothesized that a related gene, LEP, is involved in hormone signaling and seedling development.

  18. Fort Drum Preliminary Fiscal Impact Analysis.

    Science.gov (United States)

    1986-02-01

    of inmigrants 0 Fiscal histories, projections, and impacts for counties, cities, towns, villages, school districts, and the state. The results of...distribution of the inmigrating population within the three counties. Thus, an accurate forecast of the expected distribution of the inmigrating population is a...The distribution of inmigration to the school districts was made using the analysis explained in Chapter 3. Children associated with 800 new on-post

  19. THE BREED TRACEABILITY OF SHEEP MEAT BY USING MOLECULAR GENETICS METHODS: PRELIMINARY RESULTS

    Directory of Open Access Journals (Sweden)

    A. Bramante

    2011-04-01

    Full Text Available Safety and quality foods of animal origin are extremely important for consumers. The aim of this work was to evaluate the feasibility of a method to track the breed origin of sheep meat all along the production chain using molecular genetics tools. A total of 800 samples evenly distributed among seven Italian sheep breeds have been typed at 19 STR markers, together with 90 samples from both imported sheep animals and local crossbred animals withdrawn at slaughterhouses. A maximum likelihood assignment test was adopted to evaluate STR ability to allocate samples to their true breed of origin. Sarda animals were all correctly allocated, as well as more than 98% of samples from the other breeds. Only slightly worst allocation performances were observed for imported and crossbred animals. Preliminary results seem quite promising, though further analyses will be needed in order to better understand the statistical power of such an assignment test before implementation in the sheep meat production chain.

  20. Event History Analysis in Quantitative Genetics

    DEFF Research Database (Denmark)

    Maia, Rafael Pimentel

    Event history analysis is a clas of statistical methods specially designed to analyze time-to-event characteristics, e.g. the time until death. The aim of the thesis was to present adequate multivariate versions of mixed survival models that properly represent the genetic aspects related to a given...... time-to-event characteristic of interest. Real genetic longevity studies based on female animals of different species (sows, dairy cows, and sheep) exemplifies the use of the methods. Moreover these studies allow to understand som genetic mechanisms related to the lenght of the productive life...

  1. Preliminary analysis of turbochargers rotors dynamic behaviour

    Science.gov (United States)

    Monoranu, R.; Ştirbu, C.; Bujoreanu, C.

    2016-08-01

    Turbocharger rotors for the spark and compression ignition engines are resistant steels manufactured in order to support the exhaust gas temperatures exceeding 1200 K. In fact, the mechanical stress is not large as the power consumption of these systems is up to 10 kW, but the operating speeds are high, ranging between 30000 ÷ 250000 rpm. Therefore, the correct turbochargers functioning involves, even from the design stage, the accurate evaluation of the temperature effects, of the turbine torque due to the engine exhaust gases and of the vibration system behaviour caused by very high operating speeds. In addition, the turbocharger lubrication complicates the model, because the classical hydrodynamic theory cannot be applied to evaluate the floating bush bearings. The paper proposes a FEM study using CATIA environment, both as modeling medium and as tool for the numerical analysis, in order to highlight the turbocharger complex behaviour. An accurate design may prevent some major issues which can occur during its operation.

  2. Rapid Genetic Analysis in Congenital Hyperinsulinism

    DEFF Research Database (Denmark)

    Christesen, Henrik Thybo; Brusgaard, Klaus; Alm, Jan

    2007-01-01

    . METHODS: In 4 patients, a rapid genetic analysis of the ABBC8 and KCNJ11 genes was performed within 2 weeks on request prior to the decision of pancreatic surgery. RESULTS: Two patients had no mutations, rendering the genetic analysis non-informative. Peroperative multiple biopsies showed diffuse disease....... One patient had a paternal KCNJ11 mutation and focal disease confirmed by positron emission tomography scan and biopsies. One patient had a de novo heterozygous ABBC8 mutation and unexplained diffuse disease confirmed by positron emission tomography scan and biopsies. CONCLUSION: A rapid analysis...

  3. Preliminary Analysis of Helicopter Options to Support Tunisian Counterterrorism Operations

    Science.gov (United States)

    2016-04-27

    results of the current analysis and in Mouton et al., 2015, is the relative cost -effectiveness between the CH-47D and the Mi-17v5. In the previous...helicopters from Sikorsky to fulfill a number of roles in counterterrorism operations. Rising costs and delays in delivery raised the question of...whether other cost -effective options exist to meet Tunisia’s helicopter requirement. Approach Our team conducted a preliminary assessment of

  4. Preliminary Design of a Manned Nuclear Electric Propulsion Vehicle Using Genetic Algorithms

    Science.gov (United States)

    Irwin, Ryan W.; Tinker, Michael L.

    2005-01-01

    Nuclear electric propulsion (NEP) vehicles will be needed for future manned missions to Mars and beyond. Candidate designs must be identified for further detailed design from a large array of possibilities. Genetic algorithms have proven their utility in conceptual design studies by effectively searching a large design space to pinpoint unique optimal designs. This research combined analysis codes for NEP subsystems with a genetic algorithm. The use of penalty functions with scaling ratios was investigated to increase computational efficiency. Also, the selection of design variables for optimization was considered to reduce computation time without losing beneficial design search space. Finally, trend analysis of a reference mission to the asteroids yielded a group of candidate designs for further analysis.

  5. An integrated system for genetic analysis

    Directory of Open Access Journals (Sweden)

    Duan Xiao

    2006-04-01

    Full Text Available Abstract Background Large-scale genetic mapping projects require data management systems that can handle complex phenotypes and detect and correct high-throughput genotyping errors, yet are easy to use. Description We have developed an Integrated Genotyping System (IGS to meet this need. IGS securely stores, edits and analyses genotype and phenotype data. It stores information about DNA samples, plates, primers, markers and genotypes generated by a genotyping laboratory. Data are structured so that statistical genetic analysis of both case-control and pedigree data is straightforward. Conclusion IGS can model complex phenotypes and contain genotypes from whole genome association studies. The database makes it possible to integrate genetic analysis with data curation. The IGS web site http://bioinformatics.well.ox.ac.uk/project-igs.shtml contains further information.

  6. Optimization of genetic analysis for single cell

    Directory of Open Access Journals (Sweden)

    hussein mouawia

    2012-12-01

    Full Text Available The molecular genetic analysis of microdissected cells by laser, a method for selecting a starting material of pure DNA or RNA uncontaminated. Our study focuses on technical pre-PCR (polymerase chain reaction for the amplification of DNA from a single cell (leukocyte isolated from human blood after laser microdissection and aims to optimize the yield of DNA extracted of this cell to be amplified without errors and provide reliable genetic analyzes. This study has allowed us to reduce the duration of cell lysis in order to perform the step of expanding genomic PEP (primer extension preamplification directly after lysis the same day and the quality of genomic amplification and eliminate purification step of the product PEP, step with a risk of contamination and risk of loss of genetic material related to manipulation. This approach has shown that the combination of at least 3 STR (short tandem repeat markers for genetic analysis of single cell improves the efficiency and accuracy of PCR and minimizes the loss of allele (allele drop out; ADO. This protocol can be applied to large scale and an effective means suitable for genetic testing for molecular diagnostic from isolated single cell (cancerous - fetal.

  7. NRT Rotor Structural / Aeroelastic Analysis for the Preliminary Design Review

    Energy Technology Data Exchange (ETDEWEB)

    Ennis, Brandon Lee [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Paquette, Joshua A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2015-10-01

    This document describes the initial structural design for the National Rotor Testbed blade as presented during the preliminary design review at Sandia National Laboratories on October 28- 29, 2015. The document summarizes the structural and aeroelastic requirements placed on the NRT rotor for satisfactory deployment at the DOE/SNL SWiFT experimental facility to produce high-quality datasets for wind turbine model validation. The method and result of the NRT blade structural optimization is also presented within this report, along with analysis of its satisfaction of the design requirements.

  8. Preliminary Analysis of ULPC Light Curves Using Fourier Decomposition Technique

    CERN Document Server

    Ngeow, Chow-Choong; Kanbur, Shashi; Barrett, Brittany; Lin, Bin

    2013-01-01

    Recent work on Ultra Long Period Cepheids (ULPCs) has suggested their usefulness as a distance indicator, but has not commented on their relationship as compared with other types of variable stars. In this work, we use Fourier analysis to quantify the structure of ULPC light curves and compare them to Classical Cepheids and Mira variables. Our preliminary results suggest that the low order Fourier parameters of ULPCs show a continuous trend defined by Classical Cepheids after the resonance around 10 days. However their Fourier parameters also overlapped with those from Miras, which make the classification of long period variable stars difficult based on the light curves information alone.

  9. Determinants of Trade Credit: A Preliminary Analysis on Construction Sector

    Directory of Open Access Journals (Sweden)

    Nicoleta Barbuta-Misu

    2016-07-01

    Full Text Available This paper introduces a preliminary analysis of the correlations between trade credit and some selected measures of financial performance for a sample of 958 firms acting in the construction sector. The examined period covers 2004-2013. The sample derived from Amadeus database contains firms that have sold and bought on credit. Results showed that larger firms offered and used more credit than counterparties. Firms offered and used in same time credit, but not in same level. Firms with higher return on assets and profit margin used and offered less credit from suppliers, respectively to clients. Moreover, more liquid firms used less trade payables.

  10. A preliminary investigation into the genetic variation and population structure of Taenia hydatigena from Sardinia, Italy.

    Science.gov (United States)

    Boufana, Belgees; Scala, Antonio; Lahmar, Samia; Pointing, Steve; Craig, Philip S; Dessì, Giorgia; Zidda, Antonella; Pipia, Anna Paola; Varcasia, Antonio

    2015-11-30

    Cysticercosis caused by the metacestode stage of Taenia hydatigena is endemic in Sardinia. Information on the genetic variation of this parasite is important for epidemiological studies and implementation of control programs. Using two mitochondrial genes, the cytochrome c oxidase subunit 1 (cox1) and the NADH dehydrogenase subunit 1 (ND1) we investigated the genetic variation and population structure of Cysticercus tenuicollis from Sardinian intermediate hosts and compared it to that from other hosts from various geographical regions. The parsimony cox1 network analysis indicated the existence of a common lineage for T. hydatigena and the overall diversity and neutrality indices indicated demographic expansion. Using the cox1 sequences, low pairwise fixation index (Fst) values were recorded for Sardinian, Iranian and Palestinian sheep C. tenuicollis which suggested the absence of genetic differentiation. Using the ND1 sequences, C. tenuicollis from Sardinian sheep appeared to be differentiated from those of goat and pig origin. In addition, goat C. tenuicollis were genetically different from adult T. hydatigena as indicated by the statistically significant Fst value. Our results are consistent with biochemical and morphological studies that suggest the existence of variants of T. hydatigena.

  11. CONTENT ANALYSIS, DISCOURSE ANALYSIS, AND CONVERSATION ANALYSIS: PRELIMINARY STUDY ON CONCEPTUAL AND THEORETICAL METHODOLOGICAL DIFFERENCES

    Directory of Open Access Journals (Sweden)

    Anderson Tiago Peixoto Gonçalves

    2016-08-01

    Full Text Available This theoretical essay aims to reflect on three models of text interpretation used in qualitative research, which is often confused in its concepts and methodologies (Content Analysis, Discourse Analysis, and Conversation Analysis. After the presentation of the concepts, the essay proposes a preliminary discussion on conceptual and theoretical methodological differences perceived between them. A review of the literature was performed to support the conceptual and theoretical methodological discussion. It could be verified that the models have differences related to the type of strategy used in the treatment of texts, the type of approach, and the appropriate theoretical position.

  12. Boosting Principal Component Analysis by Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Divya Somvanshi

    2010-07-01

    Full Text Available This paper presents a new method of feature extraction by combining principal component analysis and genetic algorithm. Use of multiple pre-processors in combination with principal component analysis generates alternate feature spaces for data representation. The present method works out the fusion of these multiple spaces to create higher dimensionality feature vectors. The fused feature vectors are given chromosome representation by taking feature components to be genes. Then these feature vectors are allowed to undergo genetic evolution individually. For genetic algorithm, initial population is created by calculating probability distance matrix, and by applying a probability distance metric such that all the genes which lie farther than a defined threshold are tripped to zero. The genetic evolution of fused feature vector brings out most significant feature components (genes as survivours. A measure of significance is adapted on the basis of frequency of occurrence of the surviving genes in the current population. Finally, the feature vector is obtained by weighting the original feature components in proportion to their significance. The present algorithm is validated in combination with a neural network classifier based on error backpropagation algorithm, and by analysing a number of benchmark datasets available in the open sources.Defence Science Journal, 2010, 60(4, pp.392-398, DOI:http://dx.doi.org/10.14429/dsj.60.495

  13. Enhanced Accident Tolerant Fuels for LWRS - A Preliminary Systems Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Gilles Youinou; R. Sonat Sen

    2013-09-01

    The severe accident at Fukushima Daiichi nuclear plants illustrates the need for continuous improvements through developing and implementing technologies that contribute to safe, reliable and cost-effective operation of the nuclear fleet. Development of enhanced accident tolerant fuel contributes to this effort. These fuels, in comparison with the standard zircaloy – UO2 system currently used by the LWR industry, should be designed such that they tolerate loss of active cooling in the core for a longer time period (depending on the LWR system and accident scenario) while maintaining or improving the fuel performance during normal operations, operational transients, and design-basis events. This report presents a preliminary systems analysis related to most of these concepts. The potential impacts of these innovative LWR fuels on the front-end of the fuel cycle, on the reactor operation and on the back-end of the fuel cycle are succinctly described without having the pretension of being exhaustive. Since the design of these various concepts is still a work in progress, this analysis can only be preliminary and could be updated as the designs converge on their respective final version.

  14. Survival analysis with incomplete genetic data.

    Science.gov (United States)

    Lin, D Y

    2014-01-01

    Genetic data are now collected frequently in clinical studies and epidemiological cohort studies. For a large study, it may be prohibitively expensive to genotype all study subjects, especially with the next-generation sequencing technology. Two-phase sampling, such as case-cohort and nested case-control sampling, is cost-effective in such settings but entails considerable analysis challenges, especially if efficient estimators are desired. Another type of missing data arises when the investigators are interested in the haplotypes or the genetic markers that are not on the genotyping platform used for the current study. Valid and efficient analysis of such missing data is also interesting and challenging. This article provides an overview of these issues and outlines some directions for future research.

  15. Electronic Warfare M-on-N Digital Simulation Logging Requirements and HDF5: A Preliminary Analysis

    Science.gov (United States)

    2017-04-12

    E. Jarvis Electronic Warfare M-on- N Digital Simulation Logging Requirements and HDF5: A Preliminary Analysis Advanced Techniques Branch Tactical...12-04-2017 NRL Memorandum Report Electronic Warfare M-on- N Digital Simulation Logging Requirements and HDF5: A Preliminary Analysis Donald E...ELECTRONIC WARFARE M-ON- N DIGITAL SIMULATION LOGGING REQUIREMENTS AND HDF5: A PRELIMINARY ANALYSIS 1. INTRODUCTION HDF5 technology [Folk] has been

  16. Genetic Analysis of Nitroaromatic Degradation by Clostridium

    Science.gov (United States)

    2013-07-30

    REPORT Final Report on Genetic Analysis of Nitroaromatic Degradation by Clostridium 14. ABSTRACT 16. SECURITY CLASSIFICATION OF: 2,4,6-trinitrotoluene...Among different microorganisms that act in TNT biodegradation, clostridium species were distinguished for their rapid degradation rate. Here we compared...TERMS clostridium , TNT, genes, electron carriers, metabolism George N. Bennett William Marsh Rice University Office of Sponsored Research 6100 Main St

  17. Preliminary hazards analysis of thermal scrap stabilization system. Revision 1

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, W.S.

    1994-08-23

    This preliminary analysis examined the HA-21I glovebox and its supporting systems for potential process hazards. Upon further analysis, the thermal stabilization system has been installed in gloveboxes HC-21A and HC-21C. The use of HC-21C and HC-21A simplified the initial safety analysis. In addition, these gloveboxes were cleaner and required less modification for operation than glovebox HA-21I. While this document refers to glovebox HA-21I for the hazards analysis performed, glovebox HC-21C is sufficiently similar that the following analysis is also valid for HC-21C. This hazards analysis document is being re-released as revision 1 to include the updated flowsheet document (Appendix C) and the updated design basis (Appendix D). The revised Process Flow Schematic has also been included (Appendix E). This Current revision incorporates the recommendations provided from the original hazards analysis as well. The System Design Description (SDD) has also been appended (Appendix H) to document the bases for Safety Classification of thermal stabilization equipment.

  18. Analysis preliminary phytochemical raw extract of leaves Nephrolepis pectinata

    Directory of Open Access Journals (Sweden)

    Natally Marreiros Gomes

    2017-06-01

    Full Text Available The Nephrolepis pectinata popularly known as paulista fern, ladder-heaven, cat tail, belongs to the family Davalliaceae. For the beauty of the arrangements of their leaves ferns are quite commercialized in Brazil, however, have not been described in the literature studies on their pharmacological potential. Thus, the objective of this research was to analyze the phytochemical properties of the crude extract of the leaves of Nephrolepis pectinata. To perform the phytochemical analysis were initially made the collection of the vegetable, preparation of voucher specimen, washing, drying and grinding. Then, extraction by percolation method and end the phytochemical analysis. Preliminary results phytochemicals the crude extract of the leaves of Nephrolepis pectinata tested positive for reducing sugars, phenols/tannins (catechins tannins and catechins.

  19. A preliminary assessment of genetic relationships among agronomically important cultivars of black pepper

    Directory of Open Access Journals (Sweden)

    Soniya EV

    2007-06-01

    Full Text Available Abstract Background The impact of diseases such as Phytophthora foot rot and the replacement of unproductive cultivars by high yielding ones has brought about the disappearance of varieties in Piper species, like any other crop. Black pepper (King of spices, is a major spice crop consumed throughout the world. It is widely cultivated across various parts of the world apart from India. The different cultivars may be genetically related and could be a source of valuable genes for disease resistance and an increase in quantity and quality. Even though Western Ghats in India is believed to be the site of origin of this crop, numerous accessions from the NBPGR have not yet been evaluated. Our study aims to investigate the genetic relatedness in major cultivars of black pepper using Amplified Fragment Length Polymorphism. Results Amplified Fragment Length Polymorphic (AFLP DNA analysis was performed in thirty popular cultivars of black pepper from National Bureau of Plant Genetic Resources (NBPGR, India. Fingerprint profiles were generated initially with, five different primer combinations, from which three primer pair combinations (EAGC/MCAA, EAGG/MCTA and EAGC/MCTG gave consistent and scorable banding patterns. From 173 scorable markers, 158(> 90% were polymorphic which shows there is considerable variation in the available germplasm. The dendrogram derived by unweighted pair group method analysis (UPGMA grouped the accessions into three major clusters and four diverse cultivars with only 30% similarity. Karimunda, a widely grown and popular cultivar was unique in the fingerprint profiles obtained. Conclusion There are currently few fingerprinting studies using the valuable spice crop black pepper. We found considerable genetic variability among cultivars of black pepper. Fingerprinting analysis with AFLP proved to be an ideal tool for cultivar identification and phylogenetic studies. It shows the high level of polymorphism and the unique

  20. Solar Stirling power generation - Systems analysis and preliminary tests

    Science.gov (United States)

    Selcuk, M. K.; Wu, Y.-C.; Moynihan, P. I.; Day, F. D., III

    1977-01-01

    The feasibility of an electric power generation system utilizing a sun-tracking parabolic concentrator and a Stirling engine/linear alternator is being evaluated. Performance predictions and cost analysis of a proposed large distributed system are discussed. Design details and preliminary test results are presented for a 9.5 ft diameter parabolic dish at the Jet Propulsion Laboratory (Caltech) Table Mountain Test Facility. Low temperature calorimetric measurements were conducted to evaluate the concentrator performance, and a helium flow system is being used to test the solar receiver at anticipated working fluid temperatures (up to 650 or 1200 C) to evaluate the receiver thermal performance. The receiver body is designed to adapt to a free-piston Stirling engine which powers a linear alternator assembly for direct electric power generation. During the next phase of the program, experiments with an engine and receiver integrated into the concentrator assembly are planned.

  1. PRELIMINARY PHYTOCHEMICAL ANALYSIS OF ACTINIOPTERIS RADIATA (SWARTZ LINK.

    Directory of Open Access Journals (Sweden)

    R. Manonmani

    2013-06-01

    Full Text Available The objective of the present study was to find out the presence of preliminary phytochemicals in six different solvent extracts of Actiniopteris radiata (Swartz link. by qualitative screening methods. The solvent used for the extraction of leaf and rhizome powder were ethanol, petroleum ether, chloroform, acetone, DMSO and aqueous. The secondary metabolites such as steroids, triterpenoids, reducing sugars, sugars, alkaloids, phenolic compounds, catechins, flavonoids, saponins, tannins, anthroquinones and amino acids were screened by using standard methods. The phytochemical analysis of the ethanolic extract of both (leaf & rhizome revealed the presence of most active constituents than the other solvents. The ethanolic rhizome extracts of Actiniopteris radiata showed higher amount of phytochemicals when compared with the ethanolic leaf extracts.

  2. CUSUM control charts based on likelihood ratio for preliminary analysis

    Institute of Scientific and Technical Information of China (English)

    Yi DAI; Zhao-jun WANG; Chang-liang ZOU

    2007-01-01

    To detect and estimate a shift in either the mean and the deviation or both for the preliminary analysis, the statistical process control (SPC) tool, the control chart based on the likelihood ratio test (LRT), is the most popular method.Sullivan and woodall pointed out the test statistic lrt (n1, n2) is approximately distributed as x2 (2) as the sample size n, n1 and n2 are very large, and the value of n1 = 2, 3,..., n- 2 and that of n2 = n- n1.So it is inevitable that n1 or n2 is not large. In this paper the limit distribution of lrt(n1, n2) for fixed n1 or n2 is figured out, and the exactly analytic formulae for evaluating the expectation and the variance of the limit distribution are also obtained.In addition, the properties of the standardized likelihood ratio statistic slr(n1,n) are discussed in this paper. Although slr(n1, n) contains the most important information, slr(i, n)(i ≠ n1) also contains lots of information. The cumulative sum (CUSUM) control chart can obtain more information in this condition. So we propose two CUSUM control charts based on the likelihood ratio statistics for the preliminary analysis on the individual observations. One focuses on detecting the shifts in location in the historical data and the other is more general in detecting a shift in either the location and the scale or both.Moreover, the simulated results show that the proposed two control charts are, respectively, superior to their competitors not only in the detection of the sustained shifts but also in the detection of some other out-of-control situations considered in this paper.

  3. CUSUM control charts based on likelihood ratio for preliminary analysis

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    To detect and estimate a shift in either the mean and the deviation or both for the preliminary analysis, the statistical process control (SPC) tool, the control chart based on the likelihood ratio test (LRT), is the most popular method. Sullivan and woodall pointed out the test statistic lrt(n1, n2) is approximately distributed as x2(2) as the sample size n,n1 and n2 are very large, and the value of n1 = 2,3,..., n - 2 and that of n2 = n - n1. So it is inevitable that n1 or n2 is not large. In this paper the limit distribution of lrt(n1, n2) for fixed n1 or n2 is figured out, and the exactly analytic formulae for evaluating the expectation and the variance of the limit distribution are also obtained. In addition, the properties of the standardized likelihood ratio statistic slr(n1, n) are discussed in this paper. Although slr(n1, n) contains the most important information, slr(i, n)(i≠n1) also contains lots of information. The cumulative sum (CUSUM) control chart can obtain more information in this condition. So we propose two CUSUM control charts based on the likelihood ratio statistics for the preliminary analysis on the individual observations. One focuses on detecting the shifts in location in the historical data and the other is more general in detecting a shift in either the location and the scale or both. Moreover, the simulated results show that the proposed two control charts are, respectively, superior to their competitors not only in the detection of the sustained shifts but also in the detection of some other out-of-control situations considered in this paper.

  4. GENETIC ANALYSIS OF BLACK SLAVONIAN PIG

    Directory of Open Access Journals (Sweden)

    Vladimir Margeta

    2012-12-01

    Full Text Available Pairs (18 of microsatelite primers were used in this study to detect the genetic relationship within Black Slavonian Pig and between Turopolje Pig, Mangalitsa breed and Croatian Wild Pigs. The second goal of this study was to determine phylogenetic relationships among these breeds and some Asian and European pigs using the mtDNA D-loop sequence polymorphism. The third goal was to determine the MC1R genotype of Black Slavonian pigs and to find an efficient and simple PCR-RFLP method, based on differences in MC1R genotype, to distinguish between purebred Black Slavonian pigs and their crossings with commercial pig breeds and Wild Boars. Aiming to conduct microsatellite analysis each animal was genotyped for 18 microsatelite markers, chosen based on their quality, size, polymorphism and location on the porcine genome as proposed by the FAO. Two pairs of primers amplified a 511-bp fragment of control region between sites 15 390 and 15 900 (Mit1.F and Mit1.R and a 810-bp fragment between sites 15 825 and 16 634 (Mit2.F and Mi2.R were genotyped for mtDNA. Two primer pairs were used to amplify the majority of the single exon of MC1R gene aiming to determinate MC1R genotype of Black Slavonian pig. The first pair of primers, MERL1 and EPIG2, was used to amplify a 428-bp product from the 5’ half of the exon, whereas EPIG1 and EPIG3 amplified a 405-bp product from the 3’ half. Our results showed that the 18 microsatellites used in this study were useful markers to study genetic diversity among Croatian autochthonous pig breeds. This set of microsatellites may be used for identifying individuals and for genetic diversity studies for selection and conservation of the Black Slavonian pig, Turopolje pig and Mangalitsa breed. Genetic distances between populations made with Principal Component Analysis (PCA method noticed that studied populations are mostly clearly geneticaly defined. mtDNA analysis suggested that Black Slavonian and Turopolje pig showed

  5. A genetic epidemiological mega analysis of smoking initiation in adolescents

    NARCIS (Netherlands)

    Maes, H.H.; Prom-Wormley, E.; Eaves, L.J.; Rhee, S.H.; Hewitt, J.K.; Young, S.; Corley, R.; McGue, M.K.; Iacono, W.G.; Legrand, L.; Samek, D.; Murrelle, E.L.; Silberg, J.L.; Miles, D.; Schieken, R.M.; Beunen, G.P.; Thomis, M.; Rose, R.J.; Dick, D.M.; Boomsma, D.I.; Bartels, M.; Vink, J.M.; Lichtenstein, P.; White, V.; Kaprio, J.; Neale, M.C.

    2017-01-01

    Introduction. Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation across adolescence. Methods. Mega-analysis of pooled genetically informative data on smoking initiation was performed, with structural

  6. Multidisciplinary Design, Analysis, and Optimization Tool Development Using a Genetic Algorithm

    Science.gov (United States)

    Pak, Chan-gi; Li, Wesley

    2009-01-01

    Multidisciplinary design, analysis, and optimization using a genetic algorithm is being developed at the National Aeronautics and Space Administration Dryden Flight Research Center (Edwards, California) to automate analysis and design process by leveraging existing tools to enable true multidisciplinary optimization in the preliminary design stage of subsonic, transonic, supersonic, and hypersonic aircraft. This is a promising technology, but faces many challenges in large-scale, real-world application. This report describes current approaches, recent results, and challenges for multidisciplinary design, analysis, and optimization as demonstrated by experience with the Ikhana fire pod design.!

  7. Preliminary analysis of distributed in situ soil moisture measurements

    Directory of Open Access Journals (Sweden)

    L. Brocca

    2005-01-01

    Full Text Available Surface soil moisture content is highly variable in both space and time. Remote sensing can provide an effective methodology for mapping surface moisture content over large areas but ground based measurements are required to test its reliability and to calibrate retrieval algorithms. Recently, we had the opportunity to design and perform an experiment aimed at jointly acquiring measurements of surface soil water content at various locations and remotely sensed hyperspectral data. The area selected for the experiment is located in central Umbria and it extends for 90km2. For the area, detailed lithological and multi-temporal landslide inventory maps were available. We identified eight plots where measurements of soil water content were made using a Time Domain Reflectometer (TDR. The plots range in size from 100m2 to 600m2, and cover a variety of topographic and morphological settings. The TDR measurements were conducted during four days, on 5 April, 15 April, 2 May and 3 May 2004. On 3 May the NERC airborne CASI 2 acquired the hyperspectral data. Preliminary analysis concerning the matching between the landslides and the soil moisture were reported. Statistical and geostatistical analysis investigating the spatial-temporal soil moisture distribution were performed. These results will be compared with the data of surface temperature obtained from the remotely sensed hyperspectral sensor.

  8. Preliminary Structural Design Using Topology Optimization with a Comparison of Results from Gradient and Genetic Algorithm Methods

    Science.gov (United States)

    Burt, Adam O.; Tinker, Michael L.

    2014-01-01

    In this paper, genetic algorithm based and gradient-based topology optimization is presented in application to a real hardware design problem. Preliminary design of a planetary lander mockup structure is accomplished using these methods that prove to provide major weight savings by addressing the structural efficiency during the design cycle. This paper presents two alternative formulations of the topology optimization problem. The first is the widely-used gradient-based implementation using commercially available algorithms. The second is formulated using genetic algorithms and internally developed capabilities. These two approaches are applied to a practical design problem for hardware that has been built, tested and proven to be functional. Both formulations converged on similar solutions and therefore were proven to be equally valid implementations of the process. This paper discusses both of these formulations at a high level.

  9. Genetic analysis of haemophilia A in Bulgaria

    Directory of Open Access Journals (Sweden)

    Kremensky Ivo

    2004-03-01

    Full Text Available Abstract Background Haemophilias are the most common hereditary severe disorders of blood clotting. In families afflicted with heamophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostical strategy for carriership determination and prenatal diagnostics of haemophilia A in Bulgarian haemophilic population. Methods A diagnostical strategy consisting of screening for most common mutations in the factor VIII gene and analysis of a panel of eight linked to the factor VIII gene locus polymorphisms was established. Results Polymorphic analysis for carrier status determination of haemophilia A was successful in 30 families out of 32 (94%. Carrier status was determined in 25 of a total of 28 women at risk (89%. Fourteen prenatal diagnoses in women at high risk of having a haemophilia A – affected child were performed, resulting in 6 healthy boys and 5 girls. Conclusion The compound approach proves to be a highly informative and cost-effective strategy for prevention of recurrence of haemophilia A in Bulgaria. DNA analysis facilitates carriership determination and subsequent prenatal diagnosis in the majority of Bulgarian families affected by haemophilia A.

  10. Grid-connected ICES: preliminary feasibility analysis and evaluation. Volume 2. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1977-06-30

    The HEAL Complex in New Orleans will serve as a Demonstration Community for which the ICES Demonstration System will be designed. The complex is a group of hospitals, clinics, research facilities, and medical educational facilities. The five tasks reported on are: preliminary energy analysis; preliminary institutional assessment; conceptual design; firming-up of commitments; and detailed work management plan.

  11. Purification, crystallization and preliminary X-ray analysis of struthiocalcin 1 from ostrich (Struthio camelus) eggshell

    Energy Technology Data Exchange (ETDEWEB)

    Reyes-Grajeda, Juan Pablo [Unidad de Proteómica Médica, Instituto Nacional de Medicina Genómica, Mexico City (Mexico); Marín-García, Liliana [Instituto de Química, Universidad Nacional Autónoma de México (Mexico); Stojanoff, Vivian [Brookhaven National Laboratories, NSLS, Upton, New York (United States); Moreno, Abel, E-mail: carcamo@servidor.unam.mx [Instituto de Química, Universidad Nacional Autónoma de México (Mexico); Unidad de Proteómica Médica, Instituto Nacional de Medicina Genómica, Mexico City (Mexico)

    2007-11-01

    The purification, crystallization and preliminary X-ray diffraction data of the protein struthiocalcin 1 isolated from ostrich eggshell are reported. The purification, crystallization and preliminary X-ray analysis of struthiocalcin 1 (SCA-1), a protein obtained from the intramineral part of ostrich (Struthio camelus) eggshell, is reported.

  12. Investigation of Sorption and Diffusion Mechanisms, and Preliminary Economic Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Bhave, Ramesh R. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Jubin, Robert Thomas [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Spencer, Barry B. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Nair, Sankar [Georgia Inst. of Technology, Atlanta, GA (United States)

    2017-02-01

    This report describes the synthesis and evaluation of molecular sieve zeolite membranes to separate and concentrate tritiated water (HTO) from dilute HTO-bearing aqueous streams. Several monovalent and divalent cation exchanged silico alumino phosphate (SAPO-34) molecular sieve zeolite membranes were synthesized on disk supports and characterized with gas and vapor permeation measurements. The pervaporation process performance was evaluated for the separation and concentration of tritiated water. Experiments were performed using tritiated water feed solution containing tritium at the high end of the range (1 mCi/mL) anticipated in a nuclear fuel processing system that includes both acid and water streams recycling. The tritium concentration was about 0.1 ppm. The permeate was recovered under vacuum. The HTO/H2O selectivity and separation factor calculated from the measured tritium concentrations ranged from 0.99 to 1.23, and 0.83-0.98, respectively. Although the membrane performance for HTO separation was lower than expected, several encouraging observations including molecular sieving and high vapor permeance are reported. Additionally, several new approaches are proposed, such as tuning the sorption and diffusion properties offered by small pore LTA zeolite materials, and cation exchanged aluminosilicates with high metal loading. It is hypothesized that substantially improved preferential transport of tritium (HTO) resulting in a more concentrated permeate can be achieved. Preliminary economic analysis for the membrane-based process to concentrate tritiated water is also discussed.

  13. Crystallization and preliminary crystallographic analysis of recombinant human galectin-1

    Energy Technology Data Exchange (ETDEWEB)

    Scott, Stacy A. [Institute for Glycomics, Gold Coast Campus, Griffith University, Queensland 4222 (Australia); Scott, Ken [School of Biological Sciences, University of Auckland, Auckland (New Zealand); Blanchard, Helen, E-mail: h.blanchard@griffith.edu.au [Institute for Glycomics, Gold Coast Campus, Griffith University, Queensland 4222 (Australia)

    2007-11-01

    Human galectin-1 has been cloned, expressed in E. coli, purified and crystallized in the presence of both lactose (ligand) and β-mercaptoethanol under six different conditions. The X-ray diffraction data obtained have enabled the assignment of unit-cell parameters for two novel crystal forms of human galectin-1. Galectin-1 is considered to be a regulator protein as it is ubiquitously expressed throughout the adult body and is responsible for a broad range of cellular regulatory functions. Interest in galectin-1 from a drug-design perspective is founded on evidence of its overexpression by many cancers and its immunomodulatory properties. The development of galectin-1-specific inhibitors is a rational approach to the fight against cancer because although galectin-1 induces a plethora of effects, null mice appear normal. X-ray crystallographic structure determination will aid the structure-based design of galectin-1 inhibitors. Here, the crystallization and preliminary diffraction analysis of human galectin-1 crystals generated under six different conditions is reported. X-ray diffraction data enabled the assignment of unit-cell parameters for crystals grown under two conditions, one belongs to a tetragonal crystal system and the other was determined as monoclinic P2{sub 1}, representing two new crystal forms of human galectin-1.

  14. Preliminary radiation criteria and nuclear analysis for ETF

    Energy Technology Data Exchange (ETDEWEB)

    Engholm, B.A.

    1980-09-01

    Preliminary biological and materials radiation dose criteria for the Engineering Test Facility are described and tabulated. In keeping with the ETF Mission Statement, a key biological dose criterion is a 24-hour shutdown dose rate of 2 mrem/hr on the surface of the outboard bulk shield. Materials dose criteria, which primarily govern the inboard shield design, include 10/sup 9/ rads exposure limit to epoxy insulation, 3 x 10/sup -4/ dpa damage to the TF coil copper stabilizer, and a total nuclear heating rate of 5 kW in the inboard TF coils. Nuclear analysis performed during FY 80 was directed primarily at the inboard and outboard bulk shielding, and at radiation streaming in the neutral beam drift ducts. Inboard and outboard shield thicknesses to achieve the biological and materials radiation criteria are 75 cm inboard and 125 cm outboard, the configuration consisting of alternating layers of stainless steel and borated water. The outboard shield also includes a 5 cm layer of lead. NBI duct streaming analyses performed by ORNL and LASL will play a key role in the design of the duct and NBI shielding in FY 81. The NBI aluminum cryopanel nuclear heating rate during the heating cycle is about 1 milliwatt/cm/sup 3/, which is far less than the permissible limit.

  15. Preliminary analysis of aerial hyperspectral data on shallow lacustrine waters

    Science.gov (United States)

    Bianchi, Remo; Castagnoli, A.; Cavalli, Rosa M.; Marino, Carlo M.; Pignatti, Stefano; Zilioli, Eugenio

    1995-11-01

    The availability of MIVIS hyperspectral data, deriving from an aerial survey recently performed over a test-site in Lake Garda, Italy, gave the possibility of a preliminary new insight in the field of specific applications of remote sensing to shallow water analysis. The spectroradiometers in the visible and in the thermal infrared were explored in particular, accessing to helpful information for the detection of bio-physical indicators of water quality, either related to the surface/sub-surface of waters or to the bottom of the lake, since the study area presents very shallow waters, never exceeding a 6-meter depth in any case. Primary interest was the detection of man-induced activities along the margins, like sewage effect and sedimentary structure in the bottom or algal bloom. Secondly, a correlation between absorbivity coefficients in the visible bands and bathimetric contour lines in the proximity of the marginal zone of the lake was accomplished, by means of two indicative spectroradiometric transects.

  16. First fungal genome sequence from Africa: A preliminary analysis

    Directory of Open Access Journals (Sweden)

    Rene Sutherland

    2012-01-01

    Full Text Available Some of the most significant breakthroughs in the biological sciences this century will emerge from the development of next generation sequencing technologies. The ease of availability of DNA sequence made possible through these new technologies has given researchers opportunities to study organisms in a manner that was not possible with Sanger sequencing. Scientists will, therefore, need to embrace genomics, as well as develop and nurture the human capacity to sequence genomes and utilise the ’tsunami‘ of data that emerge from genome sequencing. In response to these challenges, we sequenced the genome of Fusarium circinatum, a fungal pathogen of pine that causes pitch canker, a disease of great concern to the South African forestry industry. The sequencing work was conducted in South Africa, making F. circinatum the first eukaryotic organism for which the complete genome has been sequenced locally. Here we report on the process that was followed to sequence, assemble and perform a preliminary characterisation of the genome. Furthermore, details of the computer annotation and manual curation of this genome are presented. The F. circinatum genome was found to be nearly 44 million bases in size, which is similar to that of four other Fusarium genomes that have been sequenced elsewhere. The genome contains just over 15 000 open reading frames, which is less than that of the related species, Fusarium oxysporum, but more than that for Fusarium verticillioides. Amongst the various putative gene clusters identified in F. circinatum, those encoding the secondary metabolites fumosin and fusarin appeared to harbour evidence of gene translocation. It is anticipated that similar comparisons of other loci will provide insights into the genetic basis for pathogenicity of the pitch canker pathogen. Perhaps more importantly, this project has engaged a relatively large group of scientists

  17. Inbreeding and genetic diversity in dogs: results from DNA analysis.

    Science.gov (United States)

    Wade, Claire M

    2011-08-01

    This review assesses evidence from DNA analysis to determine whether there is sufficient genetic diversity within breeds to ensure that populations are sustainable in the absence of cross breeding and to determine whether genetic diversity is declining. On average, dog breeds currently retain approximately 87% of the available domestic canine genetic diversity. Requirements that breeding stock must be 'clear' for all genetic disorders may firstly place undue genetic pressure on animals tested as being 'clear' of known genetic disorders, secondly may contribute to loss of diversity and thirdly may result in the dissemination of new recessive disorders for which no genetic tests are available. Global exchange of genetic material may hasten the loss of alleles and this practice should be discussed in relation to the current effective population size of a breed and its expected future popularity. Genomic data do not always support the results from pedigree analysis and possible reasons for this are discussed.

  18. Conversion Preliminary Safety Analysis Report for the NIST Research Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Diamond, D. J. [Brookhaven National Lab. (BNL), Upton, NY (United States); Baek, J. S. [Brookhaven National Lab. (BNL), Upton, NY (United States); Hanson, A. L. [Brookhaven National Lab. (BNL), Upton, NY (United States); Cheng, L-Y [Brookhaven National Lab. (BNL), Upton, NY (United States); Brown, N. [Brookhaven National Lab. (BNL), Upton, NY (United States); Cuadra, A. [Brookhaven National Lab. (BNL), Upton, NY (United States)

    2015-01-30

    The NIST Center for Neutron Research (NCNR) is a reactor-laboratory complex providing the National Institute of Standards and Technology (NIST) and the nation with a world-class facility for the performance of neutron-based research. The heart of this facility is the NIST research reactor (aka NBSR); a heavy water moderated and cooled reactor operating at 20 MW. It is fueled with high-enriched uranium (HEU) fuel elements. A Global Threat Reduction Initiative (GTRI) program is underway to convert the reactor to low-enriched uranium (LEU) fuel. This program includes the qualification of the proposed fuel, uranium and molybdenum alloy foil clad in an aluminum alloy, and the development of the fabrication techniques. This report is a preliminary version of the Safety Analysis Report (SAR) that would be submitted to the U.S. Nuclear Regulatory Commission (NRC) for approval prior to conversion. The report follows the recommended format and content from the NRC codified in NUREG-1537, “Guidelines for Preparing and Reviewing Applications for the Licensing of Non-power Reactors,” Chapter 18, “Highly Enriched to Low-Enriched Uranium Conversions.” The emphasis in any conversion SAR is to explain the differences between the LEU and HEU cores and to show the acceptability of the new design; there is no need to repeat information regarding the current reactor that will not change upon conversion. Hence, as seen in the report, the bulk of the SAR is devoted to Chapter 4, Reactor Description, and Chapter 13, Safety Analysis.

  19. The genetic and economic effect of preliminary culling in the seedling orchard

    Science.gov (United States)

    Don E. Riemenschneider

    1977-01-01

    The genetic and economic effects of two stages of truncation selection in a white spruce seedling orchard were investigated by computer simulation. Genetic effects were computed by assuming a bivariate distribution of juvenile and mature traits and volume was used as the selection criterion. Seed production was assumed to rise in a linear fashion to maturity and then...

  20. Preliminary Analysis of Remote Monitoring & Robotic Concepts for Performance Confirmation

    Energy Technology Data Exchange (ETDEWEB)

    D.A. McAffee

    1997-02-18

    ) Identify and discuss the main Performance Confirmation monitoring needs and requirements during the post-emplacement preclosure period. This includes radiological, non-radiological, host rock, and infrastructure performance monitoring needs. It also includes monitoring for possible off-normal events. (Presented in Section 7.3). (3) Identify general approaches and methods for obtaining performance information from within the emplacement drifts for Performance Confirmation. (Presented in Section 7.4) (4)Review and discuss available technologies and design strategies that may permit the use of remotely operated systems within the hostile thermal and radiation environment expected within the emplacement drifts. (Presented in Section 7.5). (5) Based on Performance Confirmation monitoring needs and available technologies, identify potential application areas for remote systems and robotics for post-emplacement preclosure Performance Confirmation activities (Presented in Section 7.6). (6) Develop preliminary remote monitoring and robotic concepts for post-emplacement, preclosure Performance Confirmation activities. (Presented in Section 7.7) This analysis is being performed very early in the systems engineering cycle, even as issues related to the Performance Confirmation program planning phase are being formulated and while the associated needs, constraints and objectives are yet to be fully determined and defined. This analysis is part of an issue formulation effort and is primarily concerned with identification and description of key issues related to remotely monitoring repository performance for Performance Confirmation. One of the purposes of this analysis is to provide an early investigation of potential design challenges that may have a high impact on future design concepts. This analysis can be used to guide future concept development and help access what is feasible and achievable by application of remote systems technology. Future design and systems engineering

  1. A Preliminary Tsunami vulnerability analysis for Bakirkoy district in Istanbul

    Science.gov (United States)

    Tufekci, Duygu; Lutfi Suzen, M.; Cevdet Yalciner, Ahmet; Zaytsev, Andrey

    2016-04-01

    Resilience of coastal utilities after earthquakes and tsunamis has major importance for efficient and proper rescue and recovery operations soon after the disasters. Vulnerability assessment of coastal areas under extreme events has major importance for preparedness and development of mitigation strategies. The Sea of Marmara has experienced numerous earthquakes as well as associated tsunamis. There are variety of coastal facilities such as ports, small craft harbors, and terminals for maritime transportation, water front roads and business centers mainly at North Coast of Marmara Sea in megacity Istanbul. A detailed vulnerability analysis for Yenikapi region and a detailed resilience analysis for Haydarpasa port in Istanbul have been studied in previously by Cankaya et al., (2015) and Aytore et al., (2015) in SATREPS project. In this study, the methodology of vulnerability analysis under tsunami attack given in Cankaya et al., (2015) is modified and applied to Bakirkoy district of Istanbul. Bakirkoy district is located at western part of Istanbul and faces to the North Coast of Marmara Sea from 28.77oE to 28.89oE. High resolution spatial dataset of Istanbul Metropolitan Municipality (IMM) is used and analyzed. The bathymetry and topography database and the spatial dataset containing all buildings/structures/infrastructures in the district are collated and utilized for tsunami numerical modeling and following vulnerability analysis. The tsunami parameters from deterministically defined worst case scenarios are computed from the simulations using tsunami numerical model NAMI DANCE. The vulnerability assessment parameters in the district according to vulnerability and resilience are defined; and scored by implementation of a GIS based TVA with appropriate MCDA methods. The risk level is computed using tsunami intensity (level of flow depth from simulations) and TVA results at every location in Bakirkoy district. The preliminary results are presented and discussed

  2. Methods for genetic linkage analysis using trisomies

    Energy Technology Data Exchange (ETDEWEB)

    Feingold, E. [Emory Univ. School of Public Health, Atlanta, GA (United States); Lamb, N.E.; Sherman, S.L. [Emory Univ., Atlanta, GA (United States)

    1995-02-01

    Certain genetic disorders are rare in the general population, but more common in individuals with specific trisomies. Examples of this include leukemia and duodenal atresia in trisomy 21. This paper presents a linkage analysis method for using trisomic individuals to map genes for such traits. It is based on a very general gene-specific dosage model that posits that the trait is caused by specific effects of different alleles at one or a few loci and that duplicate copies of {open_quotes}susceptibility{close_quotes} alleles inherited from the nondisjoining parent give increased likelihood of having the trait. Our mapping method is similar to identity-by-descent-based mapping methods using affected relative pairs and also to methods for mapping recessive traits using inbred individuals by looking for markers with greater than expected homozygosity by descent. In the trisomy case, one would take trisomic individuals and look for markers with greater than expected homozygosity in the chromosomes inherited from the nondisjoining parent. We present statistical methods for performing such a linkage analysis, including a test for linkage to a marker, a method for estimating the distance from the marker to the trait gene, a confidence interval for that distance, and methods for computing power and sample sizes. We also resolve some practical issues involved in implementing the methods, including how to use partially informative markers and how to test candidate genes. 20 refs., 5 figs., 1 tab.

  3. Preliminary Core Analysis of a Micro Modular Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Jo, Chang Keun; Chang, Jongwa [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Venneri, Francesco [Ultra Safe Nuclear Corporation, Los Alamos (United States); Hawari, Ayman [NC State Univ., Raleigh (United States)

    2014-05-15

    The Micro Modular Reactor (MMR) will be 'melt-down proof'(MDP) under all circumstances, including the complete loss of coolant, and will be easily transportable and retrievable, and suitable for use with very little site preparation and Balance of Plant (BOP) requirements for a variety of applications, from power generation and process heat applications in remote areas to grid-unattached locations, including ship propulsion. The Micro Modular Reactor design proposed in this paper has 3 meter diameter core (2 meter active core) which is suitable for 'factory manufactured' and has few tens year of service life for remote deployment. We confirmed the feasibility of long term service life by a preliminary neutronic analysis in terms of the excess reactivity, the temperature feedback coefficient, and the control margins. We are able to achieve a reasonably long core life time of 5 ∼ 10 years under typical thermal hydraulic condition of a helium cooled reactor. However, on a situation where longer service period and safety is important, we can reduce the power density to the level of typical pebble bed reactor. In this case we can design 10 MWt MMR with core diameter for 10 ∼ 40 years core life time without much loss in the economics. Several burnable poisons are studied and it is found that erbia mixed in the compact matrix seems reasonably good poison. The temperature feedback coefficients were remaining negative during lifetime. Drum type control rods at reflector region and few control rods inside core region are sufficient to control the reactivity during operation and to achieve safe cold shutdown state.

  4. Preliminary evaluation of diabatic heating distribution from FGGE level 3b analysis data

    Science.gov (United States)

    Kasahara, A.; Mizzi, A. P.

    1985-01-01

    A method is presented for calculating the global distribution of diabatic heating rate. Preliminary results of global heating rate evaluated from the European center for Medium Range Weather Forecasts Level IIIb analysis data is also presented.

  5. Preliminary genetic linkage map of Indian major carp, Labeo rohita (Hamilton 1822) based on microsatellite markers

    Indian Academy of Sciences (India)

    L. Sahoo; A. Patel; B. P. Sahu; S. Mitra; P. K. Meher; K. D. Mahapatra; S. K. Dash; P. Jayasankar; P. Das

    2015-06-01

    Linkage map with wide marker coverage is an essential resource for genetic improvement study for any species. Sex-averaged genetic linkage map of Labeo rohita, popularly known as ‘rohu’, widely cultured in the Indian subcontinent, was developed by placing 68 microsatellite markers generated by a simplified method. The parents and their F1 progeny (92 individuals) were used as segregating populations. The genetic linkage map spans a sex-averaged total length of 1462.2 cM, in 25 linkage groups. The genome length of rohu was estimated to be 3087.9 cM. This genetic linkage map may facilitate systematic searches of the genome to identify genes associated with commercially important characters and marker-assisted selection programmes of this species.

  6. Genetic analysis of captive proboscis monkeys.

    Science.gov (United States)

    Ogata, Mitsuaki; Seino, Satoru

    2015-01-01

    Information on the genetic relationships of captive founders is important for captive population management. In this study, we investigated DNA polymorphisms of four microsatellite loci and the mitochondrial control region sequence of five proboscis monkeys residing in a Japanese zoo as captive founders, to clarify their genetic relationship. We found that two of the five monkeys appeared to be genetically related. Furthermore, the haplotypes of the mitochondrial control region of the five monkeys were well differentiated from the haplotypes previously reported from wild populations from the northern area of Borneo, indicating a greater amount of genetic diversity in proboscis monkeys than previously reported. © 2014 Wiley Periodicals, Inc.

  7. WWW portal usage analysis using genetic algorithms

    Directory of Open Access Journals (Sweden)

    Ondřej Popelka

    2009-01-01

    Full Text Available The article proposes a new method suitable for advanced analysis of web portal visits. This is part of retrieving information and knowledge from web usage data (web usage mining. Such information is necessary in order to gain better insight into visitor’s needs and generally consumer behaviour. By le­ve­ra­ging this information a company can optimize the organization of its internet presentations and offer a better end-user experience. The proposed approach is using Grammatical evolution which is computational method based on genetic algorithms. Grammatical evolution is using a context-free grammar in order to generate the solution in arbitrary reusable form. This allows us to describe visitors’ behaviour in different manners depending on desired further processing. In this article we use description with a procedural programming language. Web server access log files are used as source data.The extraction of behaviour patterns can currently be solved using statistical analysis – specifically sequential analysis based methods. Our objective is to develop an alternative algorithm.The article further describes the basic algorithms of two-level grammatical evolution; this involves basic Grammatical Evolution and Differential Evolution, which forms the second phase of the computation. Grammatical evolution is used to generate the basic structure of the solution – in form of a part of application code. Differential evolution is used to find optimal parameters for this solution – the specific pages visited by a random visitor. The grammar used to conduct experiments is described along with explanations of the links to the actual implementation of the algorithm. Furthermore the fitness function is described and reasons which yield to its’ current shape. Finally the process of analyzing and filtering the raw input data is described as it is vital part in obtaining reasonable results.

  8. The Organic Food Market and Marketing Initiatives in Europe: a Preliminary Analysis

    DEFF Research Database (Denmark)

    Kristensen, Niels Heine; Nielsen, Thorkild; Bruselius-Jensen, Maria Louisa

    2003-01-01

    Kristensen NH, Nielsen T, Bruselius-Jensen M, Scheperlen-Bøgh P, Beckie M, Foster C, Midmore P, Padel S (2002): The Organic Food Market and Marketing Initiatives in Europe: a Preliminary Analysis. Final Report to the EU Commission......Kristensen NH, Nielsen T, Bruselius-Jensen M, Scheperlen-Bøgh P, Beckie M, Foster C, Midmore P, Padel S (2002): The Organic Food Market and Marketing Initiatives in Europe: a Preliminary Analysis. Final Report to the EU Commission...

  9. Preliminary study on washability and composition analysis of highsulfur coal in some mining areas in Guizhou

    Institute of Scientific and Technical Information of China (English)

    QIU Yue-qin; MAO Song; ZHANG Qin; TIAN Ye; LIU Zhi-hong

    2011-01-01

    Preliminary sink-float experiments on high-sulfur coal was done in some mining areas and carried on elementary analysis, industrial analysis, and ashcontent analysis. Through the experiments, definite middlings, and gangue, the phase analysis of sulfur was carried on, by which a good understanding of sulfur characters in raw coal was achieved.

  10. Developments in statistical analysis in quantitative genetics

    DEFF Research Database (Denmark)

    Sorensen, Daniel

    2009-01-01

    A remarkable research impetus has taken place in statistical genetics since the last World Conference. This has been stimulated by breakthroughs in molecular genetics, automated data-recording devices and computer-intensive statistical methods. The latter were revolutionized by the bootstrap and ...

  11. COMPARITIVE GENETIC DIVERSITY ANALYSIS OF OAT (Avena ...

    African Journals Online (AJOL)

    knsccf

    Equivalence was appraised between phenotypic and molecular markers (ISSR) to analyze the genetic diversity of 20 ... Country of origin. Pedigree ... explain between and within geographical variation and granting ..... JM (2008). Development of PCR-based SCAR and ... Genetic. Resources and Crop Evolution, 56:465–480.

  12. Longitudinal Genetic Analysis of Anxiety Sensitivity

    Science.gov (United States)

    Zavos, Helena M. S.; Gregory, Alice M.; Eley, Thalia C.

    2012-01-01

    Anxiety sensitivity is associated with both anxiety and depression and has been shown to be heritable. Little, however, is known about the role of genetic influence on continuity and change of symptoms over time. The authors' aim was to examine the stability of anxiety sensitivity during adolescence. By using a genetically sensitive design, the…

  13. Methods for genetic linkage analysis using trisomies

    Energy Technology Data Exchange (ETDEWEB)

    Feingold, E.; Lamb, N.E.; Sherman, S.L. [Emory Univ., Atlanta, GA (United States)

    1994-09-01

    Certain genetic disorders (e.g. congenital cataracts, duodenal atresia) are rare in the general population, but more common in people with Down`s syndrome. We present a method for using individuals with trisomy 21 to map genes for such traits. Our methods are analogous to methods for mapping autosomal dominant traits using affected relative pairs by looking for markers with greater than expected identity-by-descent. In the trisomy case, one would take trisomic individuals and look for markers with greater than expected reduction to homozygosity in the chromosomes inherited form the non-disjoining parent. We present statistical methods for performing such a linkage analysis, including a test for linkage to a marker, a method for estimating the distance from the marker to the gene, a confidence interval for that distance, and methods for computing power and sample sizes. The methods are described in the context of gene-dosage model for the etiology of the disorder, but can be extended to other models. We also resolve some practical issues involved in implementing the methods, including how to use partially informative markers, how to test candidate genes, and how to handle the effect of reduced recombination associated with maternal meiosis I non-disjunction.

  14. Non-genetic variance in pigs: genetic analysis of reproduction and production traits

    NARCIS (Netherlands)

    Sell-Kubiak, E.B.

    2015-01-01

    Abstract Sell-Kubiak, E. (2015). Non-genetic variance in pigs: genetic analysis of reproduction and production traits. PhD thesis, Wageningen University, The Netherlands The main objective of this thesis was to study the origin of random variance in reproduction and production trait

  15. Cusum charts for preliminary analysis of individual observations

    NARCIS (Netherlands)

    A.J. Koning (Alex); R.J.M.M. Does (Ronald)

    1997-01-01

    textabstractA preliminary Cusum chart based on individual observations is developed from the uniformly most powerful test for the detection of linear trends. This Cusum chart is compared with several of its competitors which are based on the likelihood ratio test and on transformations of standardiz

  16. Genetic analysis of the Venezuelan Criollo horse.

    Science.gov (United States)

    Cothran, E G; Canelon, J L; Luis, C; Conant, E; Juras, R

    2011-10-07

    Various horse populations in the Americas have an origin in Spain; they are remnants of the first livestock introduced to the continent early in the colonial period (16th and 17th centuries). We evaluated genetic variability within the Venezuelan Criollo horse and its relationship with other horse breeds. We observed high levels of genetic diversity within the Criollo breed. Significant population differentiation was observed between all South American breeds. The Venezuelan Criollo horse showed high levels of genetic diversity, and from a conservation standpoint, there is no immediate danger of losing variation unless there is a large drop in population size.

  17. PRELIMINARY RESEARCHES REGARDING THE GENETIC AND MORPHOMETRIC CHARACTERIZATION OF HONEYBEES (A. MELLIFERA L. FROM ROMANIA

    Directory of Open Access Journals (Sweden)

    ELIZA CAUIA

    2013-12-01

    Full Text Available The international investigations regarding the honeybees’ diversity carried out until now have revealed a certain degree of genetic pollution in different countries from Europe, because of the import of more productive honeybees’ races or of some interracial honeybees’ hybrids. This fact might have a negative impact on the success adaptability of honeybees at the ecosystem. Although, the Romanian honeybees (Apis mellifera carpathica are well adapted to the local conditions and express a good resistance to diseases, the introgression (genetic pollution of different honeybees’ races could be an imminent event. So that, starting from 2007, by a cooperation between the Institute for Beekeeping Research and Development from Bucharest and the Institute of Genetics of the University of Bucharest, we have initiated different investigations in order to obtain a more accurate state of the Romanian honeybees’ diversity. We have performed specific molecular analyses, using mtDNA (the COI-COII test extracted from 32 different honeybees samples collected from several regions from Romania. For a better and detailed characterization of the collected honeybee’s samples we have also carried out some morphometric measurements of their wings. Our data have shown that the Romanian population of honeybees is almost homogenous from the genetic and the morphometric points of views. These types of investigations represent a premiere for Romania.

  18. Alu Insertions and Genetic Diversity: A Preliminary Investigation by an Undergraduate Bioinformatics Class

    Science.gov (United States)

    Elwess, Nancy L.; Duprey, Stephen L.; Harney, Lindesay A.; Langman, Jessie E.; Marino, Tara C.; Martinez, Carolina; McKeon, Lauren L.; Moss, Chantel I. E.; Myrie, Sasha S.; Taylor, Luke Ryan

    2008-01-01

    "Alu"-insertion polymorphisms were used by an undergraduate Bioinformatics class to study how these insertion sites could be the basis for an investigation in human population genetics. Based on the students' investigation, both allele and genotype "Alu" frequencies were determined for African-American and Japanese populations as well as a…

  19. Integrative Lifecourse and Genetic Analysis of Military Working Dogs

    Science.gov (United States)

    2013-10-01

    1 Award Number: W81XWH-11-2-0226 TITLE: Integrative Lifecourse and Genetic Analysis of Military Working Dogs PRINCIPAL...insight into gene environment interactions. It leverages the simplified genetics and detailed records of the military working dog population. There are...regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet . 7(10):e1002316. PubMed PMID: 22022279). In the

  20. Current Mooring Design in Partner WECs and Candidates for Preliminary Analysis

    DEFF Research Database (Denmark)

    Thomsen, Jonas Bjerg; Ferri, Francesco; Kofoed, Jens Peter

    This report is the combined report of Commercial Milestone "CM1: Design and Cost of Current Mooring Solutions of Partner WECs" and Milestone "M3: Mooring Solutions for Preliminary Analysis" of the EUDP project "Mooring Solutions for Large Wave Energy Converters". The report covers a description...... of the current mooring design of the partner Wave Energy Converter (WEC) developers in the project, together with a preliminary cost estimate of the systems....

  1. DNA microsatellite analysis for tomato genetic differentiation

    Directory of Open Access Journals (Sweden)

    Miskoska-Milevska Elizabeta

    2015-01-01

    Full Text Available Commonly used method for determination of the genetic diversity among the populations is the test for genetic differentiation. DNA microsatellite markers are usually used to investigate the genetic structure of natural populations. The aim of this study was to evaluate the applicability of eight DNA microsatellite loci (LECH13, LE21085, LEMDDNa, LEEF1Aa, LELEUZIP, LE20592, TMS9 and LE2A11 in genetic differentiation of six morphologically different tomato varieties (var. grandifolium from subsp. cultum; var. cerasiforme - red and yellow, var. pruniforme and var. pyriforme from subsp. subspontaneum; and var. racemigerum from subsp. spontaneum. The fragment analyses was performed using Applied Biosystems DNA analyzer (ABI 3130 and GeneMapper® Software program. The data were analysed using the specific program Power Marker Software. The average number of detected alleles was 3,625. Also, the average PIC value for all 8 DNA microsatellites loci was 0,3571. The genetic differentiation test in the researched tomato subspecies showed minor differentiation for locus LELEUZIP (- 0,0009, modest differentiation for locus LECH13 (0,0896, locus LEMDDNa (0,0896 and locus LE21085 (0,0551 and major differentiation for locus LE2A11 (0,7633, locus LEEF1Aa (0,6167, locus TMS9 (0.4967 and locus LE20592 (0,4263. On the other hand, in the estimated tomato varieties, locus LE21085 (0,0297, locus LECH13 (0,0256 and locus LELEUZIP (0,0005 showed minor differentiation, locus LEMDDNa (0,1333 showed modest differentiation, while locus TMS9 (0,5929, locus LEEF1Aa (0,5006, locus LE2A11 (0,4013 and locus LE20592 (0,2606 showed major differentiation. The eight DNA microsatellite loci can be applicable solution for tomato genetic differentiation. The overall results suggest that these microsatellite loci could be used in further population genetic studies of tomatoes.

  2. On the runtime analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2014-01-01

    For many years it has been a challenge to analyze the time complexity of Genetic Algorithms (GAs) using stochastic selection together with crossover and mutation. This paper presents a rigorous runtime analysis of the well-known Simple Genetic Algorithm (SGA) for OneMax. It is proved that the SGA...

  3. On the Analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2012-01-01

    For many years it has been a challenge to analyze the time complexity of Genetic Algorithms (GAs) using stochastic selection together with crossover and mutation. This paper presents a rigorous runtime analysis of the well-known Simple Genetic Algorithm (SGA) for OneMax. It is proved that the SGA...

  4. Genetic diversity analysis of pearl millet (Pennisetum glauccum [L ...

    African Journals Online (AJOL)

    PRECIOUS

    2009-11-16

    Nov 16, 2009 ... Random amplified polymorphic DNA (RAPD) analysis was applied ... ding reliable information for the calculation of genetic dis- tance and pedigree studies. Thus, for genetic diversity assessment, molecular markers offer considerable ad- .... morphism (%) = total number of bands - number of monomorphic.

  5. Preliminary Dynamic Siol-Structure-Interaction Analysis for the Waste Handling Building

    Energy Technology Data Exchange (ETDEWEB)

    G. Wagenblast

    2000-05-01

    The objective of this analysis package is to document a preliminary dynamic seismic evaluation of a simplified design concept of the Wade Handling Building (WHB). Preliminary seismic ground motions and soil data will be used. Loading criteria of the WHB System Design Description will be used. Detail design of structural members will not be performed.. The results of the analysis will be used to determine preliminary sizes of structural concrete and steel members and to determine whether the seismic response of the structure is within an acceptable level for future License Application design of safety related facilities. In order to complete this preliminary dynamic evaluation to meet the Site Recommendation (SR) schedule, the building configuration was ''frozen in time'' as the conceptual design existed in October 1999. Modular design features and dry or wet waste storage features were intentionally excluded from this preliminary dynamic seismic evaluation. The document was prepared in accordance with the Development Plan for the ''Preliminary/Dynamic Soil Structure Interaction Analysis for the Waste Handling Building'' (CRWMS M&O 2000b), which was completed, in accordance with AP-2.13Q, ''Technical Product Development Planning''.

  6. Thermal Hydraulic Analysis of K-DEMO Single Blanket Module for Preliminary Accident Analysis using MELCOR

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Sung Bo; Bang, In Cheol [UNIST, Ulsan (Korea, Republic of)

    2016-05-15

    To develop the Korean fusion commercial reactor, preliminary design concept for K-DEMO (Korean fusion demonstration reactor) has been announced by NFRI (National Fusion Research Institute). This pre-conceptual study of K-DEMO has been introduced to identify technical details of a fusion power plant for the future commercialization of fusion reactor in Korea. Before this consideration, to build the K-DEMO, accident analysis is essential. Since the Fukushima accident, which is severe accident from unexpected disaster, safety analysis of nuclear power plant has become important. The safety analysis of both fission and fusion reactors is deemed crucial in demonstrating the low radiological effect of these reactors on the environment, during severe accidents. A risk analysis of K-DEMO should be performed, as a prerequisite for the construction of a fusion reactor. In this research, thermal-hydraulic analysis of single blanket module of K-DEMO is conducted for preliminary accident analysis for K-DEMO. Further study about effect of flow distributer is conducted. The normal K-DEMO operation condition is applied to the boundary condition and simulated to verify the material temperature limit using MELCOR. MELCOR is fully integrated, relatively fast-running code developed by Sandia National Laboratories. MELCOR had been used for Light Water Reactors and fusion reactor version of MELCOR was developed for ITER accident analysis. This study shows the result of thermal-hydraulic simulation of single blanket module with MELCOR which is severe accident code for nuclear fusion safety analysis. The difference of mass flow rate for each coolant channel with or without flow distributer is presented. With flow distributer, advantage of broadening temperature gradient in the K-DEMO blanket module and increase mass flow toward first wall is obtained. This can enhance the safety of K-DEMO blanket module. Most 13 .deg. C temperature difference in blanket module is obtained.

  7. Molecular genetic analysis of the yellow-breasted capuchin monkey: recommendations for ex situ conservation.

    Science.gov (United States)

    Oliveira, C G; Gaiotto, F A; Costa, M A; Martinez, R A

    2011-01-01

    The yellow-breasted capuchin monkey, Cebus xanthosternos, is one of the most endangered species of the Brazilian Atlantic Forest. In situ conservation for this species is problematic due to habitat destruction; therefore, captive conservation has been considered as an alternative strategy. A Studbook for C. xanthosternos has been kept for more than 20 years; however, no genetic data has been collected. Our aim was to provide a preliminary assessment of the genetic variability of C. xanthosternos in captivity in Brazil and compare it with data from the wild. Microsatellite and mtDNA sequencing were carried out in 40 samples from five Brazilian institutions registered in the international Studbook and compared with 8 samples collected in a wild population from REBIO-Una/BA. DNA for analysis was extracted from hair, feces and blood. Our results showed that two of the five captive groups assessed had a genetic variability comparable to wild animals. However, the other three groups apparently require urgent management to improve its genetic variability. Considering that inbreeding effects are more pronounced in captivity due to lack of gene flow, our data indicate a need to increase population size by introducing newly rescued individuals into these captive groups. Our results are the first attempt to provide genetic information for captive C. xanthosternos in Brazil.

  8. Cusum charts for preliminary analysis of individual observations

    OpenAIRE

    1997-01-01

    textabstractA preliminary Cusum chart based on individual observations is developed from the uniformly most powerful test for the detection of linear trends. This Cusum chart is compared with several of its competitors which are based on the likelihood ratio test and on transformations of standardized recursive residuals on which for instance the Q-chart methodology is based. It turns out that the new proposed Cusum chart is not only superior in the detection of linear trend out-of-control co...

  9. Genetic analysis of yield in peanut ( Arachis hypogaea L.) using ...

    African Journals Online (AJOL)

    Genetic analysis of yield in peanut ( Arachis hypogaea L.) using mixed model of ... parent) and a variety Yuhua No.4 (male parent) was used in this research. ... No.4 using the method of major gene plus polygene mixed inheritance model.

  10. 1 Hierarchical Approaches to the Analysis of Genetic Diversity in ...

    African Journals Online (AJOL)

    2015-04-14

    Apr 14, 2015 ... Keywords: Genetic diversity, Hierarchical approach, Plant, Clustering,. Descriptive ... utilization) or by clustering (based on a phonetic analysis of individual ...... Improvement of Food Crop Preservatives for the next Millennium.

  11. Analysis of genetic diversity and estimation of inbreeding coefficient ...

    African Journals Online (AJOL)

    Analysis of genetic diversity and estimation of inbreeding coefficient within ... The present work is a contribution to the knowledge of population structure and to the ... diversity that may be helpful to horse breeders in designing and managing ...

  12. Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon.

    Science.gov (United States)

    Wonkam, Ambroise; Ngo Bitoungui, Valentina Josiane; Ngogang, Jeanne

    2015-01-01

    Management of sickle cell disease (SCD) in Africa needs to be accompanied by various preventive strategies, including early detection via prenatal genetic diagnosis (PND). Contrary to Cameroonian doctors who considered termination of an affected pregnancy (TAP) for SCD in 36.1%, the majority of parents (62.5%) with affected children accepted TAP in principle. In practice, most women opted for TAP (90%), justified by a huge psycho-social burden. The ethical and legal challenges of PND prompted the need to explore the use of genetics for secondary prevention of SCD. In 610 Cameroonian SCD patients, the genomic variations in two principal foetal haemoglobin-promoting loci were significantly associated with foetal haemoglobin levels. In addition, the co-inheritance of a 3.7-kb α-globin gene deletion and SCD was associated with a late disease onset and possibly improved survival: there was a much higher allele frequency of the 3.7-kb α-globin gene deletion in SCD patients (∼ 40%) than in haemoglobin AA controls (∼ 10%). The data indicate the urgent need to develop and implement policy actions in sub-Saharan Africa on at least four levels: (1) the implementation of SCD screening practices and early neonatal follow-up; (2) the development and incorporating of socio-economic support to alleviate the burden of SCD on affected families; (3) the exploration of the appropriateness of the medical abortion laws for SCD, and (4) the development of national plans for genetic medicine, including research on genomic variants that affect the phenotypes of SCD, in order to potentially use them for anticipatory guidance. © 2015 S. Karger AG, Basel.

  13. Grid-connected ICES preliminary feasibility analysis and evaluation. Final report. Volume I. Executive summary

    Energy Technology Data Exchange (ETDEWEB)

    1977-06-30

    A group of hospitals, clinics, research facilities, and medical education facilities, known as the HEAL Complex, was chosen as the site (in New Orleans) for the demonstration of a Grid-Connected Integrated Community Energy System (ICES). The contract work included a preliminary energy supply/demand assessment of the Demonstration Community, a preliminary feasibility analysis and conceptual design of a candidate Demonstration System, preliminary assessment of institutional factors, preparation of a detailed work management plan for subsequent phases of the demonstration program, firming-up of commitments from participating parties, and reporting thereon. This Phase I study has indicated that a central ICES plant producing steam, chilled water, and by-product electricity to serve the HEAL Complex is technically and economically feasible to the extent that Phase II, Detailed Feasibility and Preliminary Design, should be implemented. (MCW)

  14. Genetic Association Analysis of Drusen Progression

    NARCIS (Netherlands)

    Hoffman, J.D.; Grinsven, M.J.J.P. van; Li, C.; Brantley, M., Jr.; McGrath, J.; Agarwal, A.; Scott, W.K.; Schwartz, S.G.; Kovach, J.; Pericak-Vance, M.; Sanchez, C.I.; Haines, J.L.

    2016-01-01

    PURPOSE: Age-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of

  15. Genetic analysis of morningness and eveningness

    NARCIS (Netherlands)

    Vink, J.M.; Groot, A.S.; Kerkhof, G.A.; Boomsma, D.H.

    2001-01-01

    We studied the influence of genetic factors on individual differences in morningness-eveningness in a sample of Dutch twin families. Data were collected from adolescent twins (mean age 17.8 yr) and their parents (mean age of fathers 48.0 yr and of mothers 46.0 yr) and a sample of older twins (mean a

  16. Integrative Lifecourse and Genetic Analysis of Military Working Dogs

    Science.gov (United States)

    2014-12-01

    Award Number: W81XWH-11-2-0226 TITLE: Integrative Lifecourse and Genetic Analysis of Military Working Dogs PRINCIPAL INVESTIGATOR: Kun Huang...Integrative Lifecourse and Genetic Analysis of Military Working Dogs 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-2-0226 5c. PROGRAM ELEMENT NUMBER...of the military working dog population. There are several critical aspects to meeting the aims of this proposal. 1) development of data driven

  17. Genetic Association Between Insulin Resistance And Total Cholesterol In Type 2 Diabetes Mellitus - A Preliminary Observation

    Directory of Open Access Journals (Sweden)

    Hettihewa Lukshmy Menik

    2005-05-01

    Full Text Available We investigated the degree of genetic association between insulin resistance (IR with type 2 diabetes mellitus (DM and abnormalities in lipid metabolism in 42 patients. IR was assessed by fasting insulin test (FI, McAuley (McA, HOMA and QUICKI methods. IR was detected in 34 (81% patients by FI, McA and in 39 (93% patients by HOMA and QUICKI. 26 (62% patients had family history of DM and 23 (89% of them displayed IR by FI & McA. 24 of them (92% displayed IR by HOMA and QUICKI. Our results suggest that association between the family history of DM and IR were statistically significant by chi-square test (P<0.05. Further, 29 (69% patients had elevated total cholesterol levels. Association between elevated total cholesterol and IR as assessed by FI test was also statistically significant (x2=4.6; p<0.05. Results of our study indicate the statistically significant genetic association of IR with abnormal cholesterol metabolism and family history of DM.

  18. Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.

    Science.gov (United States)

    Patrinos, George P; Innocenti, Federico; Cox, Nancy; Fortina, Paolo

    2011-06-01

    The 2010 GOLDEN HELIX Symposium "Genetic Analysis in Translational Medicine" was held in Athens, Greece, 1-4 December 2010. The scientific program covered all aspects of this discipline, including genome-wide association studies, genomics of cancer and human disorders, molecular cytogenetics, advances in genomic technology, next-generation sequencing applications, pharmacogenomics, and bioinformatics. In addition, various topics on genetics and society and genetic analysis in clinical practice were discussed. We provide an overview of the plenary lectures and the topics discussed in the symposium.

  19. Turbine Fuels from Tar Sands Bitumen and Heavy Oil. Phase I. Preliminary Process Analysis.

    Science.gov (United States)

    1985-04-09

    Process Analysis A. F. Talbot. V. Elanchenny, L. H. Finkel, A. Macris and 3. P. Schwedock Sun Tech, Inc., A Subsidiary of Sun Co. P. 0. Box 1135 Marcus Hook...investigation be carried out in three discrete phases, as described below: Phase I - Preliminary process analysis includes an eval- uation of the potential of

  20. A Preliminary Study on Gender Differences in Studying Systems Analysis and Design

    Science.gov (United States)

    Lee, Fion S. L.; Wong, Kelvin C. K.

    2017-01-01

    Systems analysis and design is a crucial task in system development and is included in a typical information systems programme as a core course. This paper presented a preliminary study on gender differences in studying a systems analysis and design course of an undergraduate programme. Results indicated that male students outperformed female…

  1. Genetic analysis of reproductive development in tomato.

    Science.gov (United States)

    Lozano, Rafael; Giménez, Estela; Cara, Beatriz; Capel, Juan; Angosto, Trinidad

    2009-01-01

    Besides being an important commercial crop, tomato (Solanum lycopersicum L.) constitutes a model species for the study of plant developmental processes. Current research tends to combine classic disciplines such as physiology and genetics with modern approaches coming from molecular biology and genomics with a view to elucidating the biological mechanisms underlying plant architecture, floral transition and development of flowers and fruits. Comparative and functional analyses of tomato regulatory genes such as LATERAL SUPPRESSOR (LS), SELF PRUNING (SP), SINGLE FLOWER TRUSS (SFT) and FALSIFLORA (FA) have revealed mechanisms involved in shoot development and flowering time which are conserved among Arabidopsis, tomato and other plant species. Furthermore, several regulatory genes encoding transcription factors have been characterized as responsible for singular features of vegetative and reproductive development of tomato. Thus, the sympodial growth habit seems to require a specific control of the developmental fate followed by shoot meristems. In this process, novel genetic and molecular interactions involving SP, SFT and FA genes would be essential. Also this latter, but mainly ANANTHA (AN) and COMPOUND INFLORESCENCE (S) have recently been found to regulate the inflorescence architecture of the tomato. Concerning fruit development, genetic and molecular analyses of new genes such as fw2.2, FASCIATED, OVATE and SUN have proved their contribution to the domestication process and most importantly, their function as key regulators of fruit size and shape variation. Tomato ripening is also being elucidated thanks to the characterization of regulatory genes such as RIPENING INHIBITOR (RIN), NON-RIPENING (NOR), TDR4 and COLORLESS NON-RIPENING (CNR), which have been found to control early stages of fruit development and maturation. At the same time, much research is dedicated to isolating the targets of the ripening regulators, as well as the key genes promoting the

  2. Genetic analysis of basophil function in vivo

    OpenAIRE

    Sullivan, Brandon M.; Liang, Hong-Erh; Bando, Jennifer K.; Wu, Davina; Cheng, Laurence E.; McKerrow, James K.; Allen, Christopher D.C.; Locksley, Richard M.

    2011-01-01

    Contributions by basophils to allergic and helminth immunity remain incompletely defined. Using sensitive IL-4 reporter alleles, we demonstrate that basophil IL-4 production occurs by a CD4+ T cell-dependent process restricted to affected peripheral tissues. We genetically marked and specifically deleted basophils and demonstrate that basophils do not mediate TH2 priming in vivo. Two-photon imaging confirmed that basophils do not interact with antigen-specific T cells in lymph nodes, but can ...

  3. Genetics and preliminary mechanism of chlorpyrifos resistance in Phenacoccus solenopsis Tinsley (Homoptera: Pseudococcidae).

    Science.gov (United States)

    Afzal, Muhammad Babar Shahzad; Ijaz, Mamuna; Farooq, Zahra; Shad, Sarfraz Ali; Abbas, Naeem

    2015-03-01

    Cotton mealybug, Phenacoccus solenopsis Tinsley, is a serious pest of cotton and other crops and infestation by this pest results in yield losses that affect the economy of Pakistan. Various groups of insecticides have been used to control this pest but resistance development is a major factor that inhibits its control in the field. Chlorpyrifos is a common insecticide used against many pests including P. solenopsis. The present experiment was designed to assess the genetics and mechanism of chlorpyrifos resistance and to develop a better resistance management strategy and assess the genetics and mechanism of chlorpyrifos resistance. Before selection, the field strain showed 3.1-fold resistance compared to the susceptible strain (CSS). After 8 rounds of selection with chlorpyrifos, a selected population developed a 191.0-fold resistance compared to the CSS. The LC50 values of F1 (CRR ♀ × CSS ♂) and F1(†) (CRR ♂ × CSS ♀) strains were not significantly different and dominance (DLC) values were 0.42 and 0.55. Reciprocal crosses between chlorpyrifos susceptible and resistant strains indicated that resistance was autosomal and incompletely recessive. The monogenic model of fit test and calculation of number of genes segregating in the chlorpyrifos resistant strain demonstrated that resistance is controlled by multiple genes. A value of 0.59 was calculated for realized heritability for chlorpyrifos resistance. Synergism bioassays with piperonyl butoxide and S, S, S-butyl phosphorotrithioate showed that chlorpyrifos resistance was associated with microsomal oxidases and esterases. It was concluded that chlorpyrifos resistance in P. solenopsis was autosomally inherited, incompletely recessive and polygenic. These findings would be helpful to improve the management of P. solenopsis.

  4. Heterozygosity analysis of Bionda Piemontese and Bianca di Saluzzo chicken breeds by microsatellites markers: a preliminary study

    Directory of Open Access Journals (Sweden)

    M. Longeri

    2010-04-01

    Full Text Available Conservation of genetic variability is one of the main goals in animal production science and the analysis of breeds genetic asset can supply objective basis for effective conservation programs and selection strategies. Bionda Piemontese (PIB and Bianca di Saluzzo (SAB chicken breeds originated in Piemonte region. Breeds conservation programmes started in 1999 in Verzuolo (CN aiming to preserve the breeds and to improve their diffusion being particularly adapted to free range rearing systems thanks to their resistance. PIB and SAB are both suggested for traditional recipes and production (e.g. Morozzo capon and are Slow Food presidia. A total of 76 birds were analysed: PIB (n=36, SAB (n=40. Genomic DNA was extracted from blood samples. All birds were genotyped at eight microsatellite loci. Each marker was subjected to PCR and the products were separated by electrophoresis in 4.2% denaturing polyacrylamide gels on ABI Prism 377 DNA Sequencer equipped with Genescan and Genotyper software. The results of this preliminary study highlight the genetic differences occurring between PIB and SAB populations

  5. Preliminary studies on prawn, Penaeus merguiensis, for selection of broodstock in genetic improvement programs

    Digital Repository Service at National Institute of Oceanography (India)

    Goswami, U.; Dalal, S.G.; Goswami, S.C.

    twice that in males in both localities. Stepwise sequential regression analysis indicated that morphometric characters like partial carapace length (PCL), exopod of uropod length (EUL) and posterior abdominal circumference (PAC), either individually...

  6. Genetic analysis of the fungus, Bremia lactucae, using restriction fragment length polymorphisms.

    Science.gov (United States)

    Hulbert, S H; Ilott, T W; Legg, E J; Lincoln, S E; Lander, E S; Michelmore, R W

    1988-12-01

    Restriction fragment length polymorphisms (RFLPs) were developed as genetic markers for Bremia lactucae, the biotrophic Oomycete fungus which causes lettuce downy mildew. By using 55 genomic and cDNA probes, a total of 61 RFLP loci were identified among three heterothallic isolates of B. lactucae. Of these 61 RFLP loci, 53 were heterozygous in at least one of the three strains and thus were informative for linkage analysis in at least one of two F1 crosses that were performed. Analysis of the cosegregation of these 53 RFLPs, eight avirulence loci and the mating type locus allowed the construction of a preliminary genetic linkage map consisting of 13 small linkage groups. Based on the extent of linkage detected among probes, the genome of B. lactucae can be estimated to be approximately 2000 cM. Linkage was detected between a RFLP locus and an avirulence gene, providing a potential starting point for chromosome walking to clone an avirulence gene. The high frequency of DNA polymorphism in naturally occurring isolates and the proper Mendelian segregation of loci detected by low copy number probes indicates that it will be possible to construct a detailed genetic map of B. lactucae using RFLPs as markers. The method of analysis employed here should be applicable to many other outbreeding, heterozygous species for which defined inbred lines are not available.

  7. Sharing privacy-sensitive access to neuroimaging and genetics data: a review and preliminary validation

    Science.gov (United States)

    Sarwate, Anand D.; Plis, Sergey M.; Turner, Jessica A.; Arbabshirani, Mohammad R.; Calhoun, Vince D.

    2014-01-01

    The growth of data sharing initiatives for neuroimaging and genomics represents an exciting opportunity to confront the “small N” problem that plagues contemporary neuroimaging studies while further understanding the role genetic markers play in the function of the brain. When it is possible, open data sharing provides the most benefits. However, some data cannot be shared at all due to privacy concerns and/or risk of re-identification. Sharing other data sets is hampered by the proliferation of complex data use agreements (DUAs) which preclude truly automated data mining. These DUAs arise because of concerns about the privacy and confidentiality for subjects; though many do permit direct access to data, they often require a cumbersome approval process that can take months. An alternative approach is to only share data derivatives such as statistical summaries—the challenges here are to reformulate computational methods to quantify the privacy risks associated with sharing the results of those computations. For example, a derived map of gray matter is often as identifiable as a fingerprint. Thus alternative approaches to accessing data are needed. This paper reviews the relevant literature on differential privacy, a framework for measuring and tracking privacy loss in these settings, and demonstrates the feasibility of using this framework to calculate statistics on data distributed at many sites while still providing privacy. PMID:24778614

  8. Crystallization and preliminary crystallographic analysis of merohedrally twinned crystals of MJ0729, a CBS-domain protein from Methanococcus jannaschii

    Energy Technology Data Exchange (ETDEWEB)

    Fernández-Millán, Pablo; Kortazar, Danel; Lucas, María [Unidad de Cristalografía Macromolecular, CIC bioGUNE, Parque Tecnológico de Vizcaya, Ed. 800, 48160 Derio, Vizcaya (Spain); Martínez-Chantar, María Luz [Unidad de Metabolómica, CIC bioGUNE, Parque Tecnológico de Vizcaya, Ed. 801, 48160 Derio, Vizcaya (Spain); Astigarraga, Egoitz; Fernández, José Andrés [Departamento de Química-Física, Universidad del País Vasco UPV-EHU, Barrio Sarriena s/n, E-48940 Leioa (Spain); Sabas, Olatz [Unidad de Cristalografía Macromolecular, CIC bioGUNE, Parque Tecnológico de Vizcaya, Ed. 800, 48160 Derio, Vizcaya (Spain); Albert, Armando [Instituto de Química-Física ‘Rocasolano’, CSIC, c/Serrano 119, 28006 Madrid (Spain); Mato, Jose M. [Unidad de Metabolómica, CIC bioGUNE, Parque Tecnológico de Vizcaya, Ed. 801, 48160 Derio, Vizcaya (Spain); Martínez-Cruz, Luis Alfonso, E-mail: amartinez@cicbiogune.es [Unidad de Cristalografía Macromolecular, CIC bioGUNE, Parque Tecnológico de Vizcaya, Ed. 800, 48160 Derio, Vizcaya (Spain)

    2008-07-01

    Trigonal crystals of MJ0729 showing different degrees of merohedral twinning that may vary from perfect hemihedral twinning to perfect tetartohedral twinning were obtained upon slight variation of the pH. CBS domains are small protein motifs, usually associated in tandem, that are implicated in binding to adenosyl groups. Several genetic diseases in humans have been associated with mutations in CBS sequences, which has made them very promising targets for rational drug design. Trigonal crystals of the CBS-domain protein MJ0729 from Methanococcus jannaschii were grown by the vapour-diffusion method at acidic pH. Preliminary analysis of nine X-ray diffraction data sets using Yeates statistics and Britton plots showed that slight variation in the pH as well as in the buffer used in the crystallization experiments led to crystals with different degrees of merohedral twinning that may vary from perfect hemihedral twinning to perfect tetartohedral twinning.

  9. Crystallization and preliminary crystallographic analysis of merohedrally twinned crystals of MJ0729, a CBS-domain protein from Methanococcus jannaschii

    Science.gov (United States)

    Fernández-Millán, Pablo; Kortazar, Danel; Lucas, María; Martínez-Chantar, María Luz; Astigarraga, Egoitz; Fernández, José Andrés; Sabas, Olatz; Albert, Armando; Mato, Jose M.; Martínez-Cruz, Luis Alfonso

    2008-01-01

    CBS domains are small protein motifs, usually associated in tandem, that are implicated in binding to adenosyl groups. Several genetic diseases in humans have been associated with mutations in CBS sequences, which has made them very promising targets for rational drug design. Trigonal crystals of the CBS-domain protein MJ0729 from Methanococcus jannaschii were grown by the vapour-diffusion method at acidic pH. Preliminary analysis of nine X-ray diffraction data sets using Yeates statistics and Britton plots showed that slight variation in the pH as well as in the buffer used in the crystallization experiments led to crystals with different degrees of merohedral twinning that may vary from perfect hemihedral twinning to perfect tetartohedral twinning. PMID:18607087

  10. Thick Concrete Specimen Construction, Testing, and Preliminary Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Clayton, Dwight A. [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Hoegh, Kyle [Univ. of Minnesota, Minneapolis, MN (United States); Khazanovich, Lev [Univ. of Minnesota, Minneapolis, MN (United States)

    2015-03-01

    The purpose of the U.S. Department of Energy Office of Nuclear Energy’s Light Water Reactor Sustainability (LWRS) Program is to develop technologies and other solutions that can improve the reliability, sustain the safety, and extend the operating lifetimes of nuclear power plants (NPPs) beyond 60 years. Since many important safety structures in an NPP are constructed of concrete, inspection techniques must be developed and tested to evaluate the internal condition. In-service containment structures generally do not allow for the destructive measures necessary to validate the accuracy of these inspection techniques. This creates a need for comparative testing of the various nondestructive evaluation (NDE) measurement techniques on concrete specimens with known material properties, voids, internal microstructure flaws, and reinforcement locations. A preliminary report detailed some of the challenges associated with thick reinforced concrete sections and prioritized conceptual designs of specimens that could be fabricated to represent NPP concrete structures for using in NDE evaluation comparisons. This led to the construction of the concrete specimen presented in this report, which has sufficient reinforcement density and cross-sectional size to represent an NPP containment wall. Details on how a suitably thick concrete specimen was constructed are presented, including the construction materials, final nominal design schematic, as well as formwork and rigging required to safely meet the desired dimensions of the concrete structure. The report also details the type and methods of forming the concrete specimen as well as information on how the rebar and simulated defects were embedded. Details on how the resulting specimen was transported, safely anchored, and marked to allow access for systematic comparative NDE testing of defects in a representative NPP containment wall concrete specimen are also given. Data collection using the MIRA Ultrasonic NDE equipment and

  11. Genetic Structure Analysis of Human Remains from Khitan Noble Necropolis

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Ancient DNA was extracted from 13 skeletal remains from the burial groups of Khitan nobles, which were excavated in northeast China. The hypervariable segment I sequences ( HVS Ⅰ ) of the mitochondrial DNA control region, in the 13 individuals, were used as genetic markers to determine the genetic relationships between the individuals and the genetic affinity to other interrelated populations by using the known database of mtDNA. Based on the phylogenetic analysis of these ancient DNA sequences, the genetic structures of two Khitan noble kindreds were obtained, including the Yel Yuzhi's kindred and the Xiao He's kindred. Furthermore, the relationships between the Khitan nobles and some modern interrelated populations were analyzed. On the basis of the result of the analysis, the gene flows of the ancient Khitans and their demographic expansion in history was deduced.

  12. A genetic analysis of senescence in Drosophila.

    Science.gov (United States)

    Hughes, K A; Charlesworth, B

    1994-01-06

    Two attractive theories for the evolution of senescence are based on the principle that the force of natural selection decreases with age. The theories differ in the type of age-specific gene action that they assume. Antagonistic pleiotropy postulates that pleiotropic genes with positive effects early in life and negative effects of comparable magnitude late in life are favoured by selection, whereas genes with the reverse pattern of action are selected against. Mutation accumulation assumes that deleterious mutant alleles with age-specific effects will equilibrate at a lower frequency if their effects are expressed early rather than late in life. Explicit models demonstrate that both mechanisms can lead to the evolution of senescent life histories under reasonable conditions. Antagonistic pleiotropy has gained considerable empirical support, but the evidence in support of mutation accumulation is more sparse. Here we report that the genetic variability of mortality in male Drosophila melanogaster increases greatly at very late ages, as predicted by the mutation accumulation hypothesis. The rate of increase in mortality with age exhibits substantial genetic and environmental variability. This result provides a possible explanation for recent observations of non-increasing mortality rates in very old flies.

  13. Polyglot programming in applications used for genetic data analysis.

    Science.gov (United States)

    Nowak, Robert M

    2014-01-01

    Applications used for the analysis of genetic data process large volumes of data with complex algorithms. High performance, flexibility, and a user interface with a web browser are required by these solutions, which can be achieved by using multiple programming languages. In this study, I developed a freely available framework for building software to analyze genetic data, which uses C++, Python, JavaScript, and several libraries. This system was used to build a number of genetic data processing applications and it reduced the time and costs of development.

  14. Preliminary Study on Thalassemia Screening and Genetic Counseling in Selective Hmong People in Saraburi Province, Thailand

    Directory of Open Access Journals (Sweden)

    Pa Vang

    2008-01-01

    Full Text Available it can lead to the destruction of red blood cells. Studies have shown that there is a high prevalence of thalassemia in Southeast Asia. The Institute of Health Research, Chulalongkorn University developed a successful “Module” to screen for thalassemia in the Thai population, however, it has not been implemented in the minority population in Thailand. In this study, we investigated the feasibility of the newly developed educational and thalassemia screening program with the Hmong population. The primary aim of this study was to test this program. The secondary aim was to determine the prevalence of thalassemia in the Hmong and provide education. A third aim was to determine the reliability of two different screening methods in the Hmong population. A pre-test and post-test design was used; participants (N=12 were individuals residing in Thailand with the ability to read English and between the ages 18-50. The participants met twice with the researchers to complete the program. The first contact consisted of assessing participants’ knowledge about thalassemia, providing thalassemia information and education about genetic counseling, and drawing blood samples. The second contact consisted of assessing knowledge, providing a written report of individual blood sample results and counseling. The initial interview revealed that the majority of the participants (82% did not know anything about thalassemia prior to participation. The program was easy to understand by most participants (90%. Of the eleven Hmong participants, two tested positive for being a possible carrier for thalassemia. In order to reduce the prevalence of thalassemia, it is necessary to engage in risk reduction health services. The modified screening method proved to be as effective as the standard method. Therefore, the program can expand and be used in other regional populations with low cost.

  15. Genetic associations in diabetic nephropathy: a meta-analysis

    OpenAIRE

    Mooyaart, A. L.; Valk, E. J. J.; van Es, L A; Bruijn, J. A.; De Heer, E.; Freedman, B.I.; Dekkers, O.M.; Baelde, H. J.

    2010-01-01

    Aims/hypothesis This meta-analysis assessed the pooled effect of each genetic variant reproducibly associated with diabetic nephropathy. Methods PubMed, EMBASE and Web of Science were searched for articles assessing the association between genes and diabetic nephropathy. All genetic variants statistically associated with diabetic nephropathy in an initial study, then independently reproduced in at least one additional study, were selected. Subsequently, all studies assessing these variants we...

  16. Preliminary Analysis of Species Partitioning in the DWPF Melter

    Energy Technology Data Exchange (ETDEWEB)

    Choi, A. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Kesterson, M. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Johnson, F. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); McCabe, D. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL)

    2015-07-15

    The work described in this report is preliminary in nature since its goal was to demonstrate the feasibility of estimating the off-gas entrainment rates from the Defense Waste Processing Facility (DWPF) melter based on a simple mass balance using measured feed and glass pour stream compositions and timeaveraged melter operating data over the duration of one canister-filling cycle. The only case considered in this study involved the SB6 pour stream sample taken while Canister #3472 was being filled over a 20-hour period on 12/20/2010, approximately three months after the bubblers were installed. The analytical results for that pour stream sample provided the necessary glass composition data for the mass balance calculations. To estimate the “matching” feed composition, which is not necessarily the same as that of the Melter Feed Tank (MFT) batch being fed at the time of pour stream sampling, a mixing model was developed involving three preceding MFT batches as well as the one being fed at that time based on the assumption of perfect mixing in the glass pool but with an induction period to account for the process delays involved in the calcination/fusion step in the cold cap and the melter turnover.

  17. Preliminary Coupling of MATRA Code for Multi-physics Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seongjin; Choi, Jinyoung; Yang, Yongsik; Kwon, Hyouk; Hwang, Daehyun [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2014-05-15

    The boundary conditions such as the inlet temperature, mass flux, averaged heat flux, power distributions of the rods, and core geometry is given by constant values or functions of time. These conditions are separately calculated and provided by other codes, such as a neutronics or a system codes, into the MATRA code. In addition, the coupling of several codes in the different physics field is focused and embodied. In this study, multiphysics coupling methods were developed for a subchannel code (MATRA) with neutronics codes (MASTER, DeCART) and a fuel performance code (FRAPCON-3). Preliminary evaluation results for representative sample cases are presented. The MASTER and DeCART codes provide the power distribution of the rods in the core to the MATRA code. In case of the FRAPCON-3 code, the variation of the rod diameter induced by the thermal expansion is yielded and provided. The MATRA code transfers the thermal-hydraulic conditions that each code needs. Moreover, the coupling method with each code is described.

  18. Laboratory Investigations on Estuary Salinity Mixing: Preliminary Analysis

    Directory of Open Access Journals (Sweden)

    F. H. Nuryazmeen

    2014-05-01

    Full Text Available Estuaries are bodies of water along the coasts that are formed when fresh water from rivers flows into and mixes with salt water from the ocean. The estuaries serve as a habitat to some aquatic lives, including mangroves. Human-induced activities such as dredging of shipping lanes along the bottom estuarine, the disposal of industrial wastes into the water system and shoreline development influence estuarine dynamics which include mixing process. These activities might contribute to salinity changes and further adversely affect the estuarine ecosystem. In order to study at the characteristics of the mixing between salt water (estuary and freshwater (river, a preliminary investigation had been done in the laboratory. Fresh water was released from one end of the flume and overflowing at weir at the other end. Meanwhile, salt water was represented by the red dye tracer released through a weir and intruded upstream as a gravity current. The isohalines are plotted to see the salinity patterns. Besides, to examine the spatial and temporal salinity profiles along the laboratory investigations, the plotted graphs have been made. The results show that the changes in salinity level along the flume due to mixing between fresh water and salt water. This showed typical salt-wedge estuary characteristics.

  19. Improved time complexity analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2015-01-01

    A runtime analysis of the Simple Genetic Algorithm (SGA) for the OneMax problem has recently been presented proving that the algorithm with population size μ≤n1/8−ε requires exponential time with overwhelming probability. This paper presents an improved analysis which overcomes some limitations...

  20. Genetic analysis of basophil function in vivo.

    Science.gov (United States)

    Sullivan, Brandon M; Liang, Hong-Erh; Bando, Jennifer K; Wu, Davina; Cheng, Laurence E; McKerrow, James K; Allen, Christopher D C; Locksley, Richard M

    2011-06-01

    Contributions by basophils to allergic and helminth immunity remain incompletely defined. Using sensitive interleukin 4 (Il4) reporter alleles, we demonstrate here that basophil IL-4 production occurs by a CD4(+) T cell-dependent process restricted to the peripheral tissues affected. We genetically marked and achieved specific deletion of basophils and found that basophils did not mediate T helper type 2 (T(H)2) priming in vivo. Two-photon imaging confirmed that basophils did not interact with antigen-specific T cells in lymph nodes but engaged in prolonged serial interactions with T cells in lung tissues. Although targeted deletion of IL-4 and IL-13 in either CD4(+) T cells or basophils had a minimal effect on worm clearance, deletion from both lineages demonstrated a nonredundant role for basophil cytokines in primary helminth immunity.

  1. Fukushima Daiichi unit 1 uncertainty analysis--Preliminary selection of uncertain parameters and analysis methodology

    Energy Technology Data Exchange (ETDEWEB)

    Cardoni, Jeffrey N.; Kalinich, Donald A.

    2014-02-01

    Sandia National Laboratories (SNL) plans to conduct uncertainty analyses (UA) on the Fukushima Daiichi unit (1F1) plant with the MELCOR code. The model to be used was developed for a previous accident reconstruction investigation jointly sponsored by the US Department of Energy (DOE) and Nuclear Regulatory Commission (NRC). However, that study only examined a handful of various model inputs and boundary conditions, and the predictions yielded only fair agreement with plant data and current release estimates. The goal of this uncertainty study is to perform a focused evaluation of uncertainty in core melt progression behavior and its effect on key figures-of-merit (e.g., hydrogen production, vessel lower head failure, etc.). In preparation for the SNL Fukushima UA work, a scoping study has been completed to identify important core melt progression parameters for the uncertainty analysis. The study also lays out a preliminary UA methodology.

  2. Preliminary Analysis of a Novel SAR Based Emergency System for Earth Orbit Satellites using Galileo

    NARCIS (Netherlands)

    Gill, E.K.A.; Helderweirt, A.

    2010-01-01

    This paper presents a preliminary analysis of a novel Search and Rescue (SAR) based emergency system for Low Earth Orbit (LEO) satellites using the Galileo Global Navigation Satellite System (GNSS). It starts with a description of the space user SAR system including a concept description, mission ar

  3. ANSI/ASHRAE/IES Standard 90.1-2013 Preliminary Determination: Quantitative Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Halverson, Mark A.; Rosenberg, Michael I.; Wang, Weimin; Zhang, Jian; Mendon, Vrushali V.; Athalye, Rahul A.; Xie, YuLong; Hart, Reid; Goel, Supriya

    2014-03-01

    This report provides a preliminary quantitative analysis to assess whether buildings constructed according to the requirements of ANSI/ASHRAE/IES Standard 90.1-2013 would result in energy savings compared with buildings constructed to ANSI/ASHRAE/IES Standard 90.1-2010.

  4. Preliminary Analysis of the Oklahoma Wavefields Demonstration Dataset

    Science.gov (United States)

    Anderson, K. R.; Sweet, J. R.; Woodward, R.; Karplus, M. S.; DeShon, H. R.; Magnani, M. B.; Hayward, C.; Langston, C. A.

    2016-12-01

    In June 2016, a field crew of 50 students, faculty, industry personnel and IRIS staff deployed a total of 390 stations as part of a community seismic experiment above an active seismic lineament in north-central Oklahoma. The goals of the experiment were to test new instrumentation and deployment strategies that record the full wavefield, and to advance understanding of earthquake source processes and regional lithospheric structure. The crew deployed 363 3C 4.5Hz Generation 2 Fairfield Z-Land nodes along three seismic lines and in a seven-layer nested gradiometer array. The seismic lines spanned a region 13 km long by 5 km wide. The nested gradiometer was designed to measure the full seismic wavefield using standard frequency-wavenumber techniques and spatial wave gradients. A broadband, 18 station "Golay 3x6" array was deployed around the gradiometer and seismic lines with an aperture of approximately 5 km to collect waveform data from local and regional events. In addition, 9 infrasound stations were deployed in order to capture and identify acoustic events that might be recorded by the seismic arrays and to quantify the wind acoustic noise effect on co-located broadband stations. The variety of instrumentation used in this deployment was chosen to capture the full seismic wavefield generated by the local and regional seismicity beneath the array and the surrounding region. We present preliminary results from the data collected during the experiment. We analyze the level of signal coherence observed across the nested gradiometer and Golay array as well as array design fidelity. We report on data quality, including completeness and noise levels, for the various types of instrumentation. We also examine the performance of co-located surface and buried nodes to determine the benefits of each installation type. Finally, we present performance comparisons between co-located nodes and broadband stations and compare these results to prior wavefield/large-N deployments

  5. Preliminary analysis techniques for ring and stringer stiffened cylindrical shells

    Science.gov (United States)

    Graham, J.

    1993-03-01

    This report outlines methods of analysis for the buckling of thin-walled circumferentially and longitudinally stiffened cylindrical shells. Methods of analysis for the various failure modes are presented in one cohesive package. Where applicable, more than one method of analysis for a failure mode is presented along with standard practices. The results of this report are primarily intended for use in launch vehicle design in the elastic range. A Microsoft Excel worksheet with accompanying macros has been developed to automate the analysis procedures.

  6. Promoting Utilization of Saccharum spp. Genetic Resources through Genetic Diversity Analysis and Core Collection Construction

    Science.gov (United States)

    Pathak, Bhuvan; Ayala-Silva, Tomas; Yang, Xiping; Todd, James; Glynn, Neil C.; Kuhn, David N.; Glaz, Barry; Gilbert, Robert A.; Comstock, Jack C.; Wang, Jianping

    2014-01-01

    Sugarcane (Saccharum spp.) and other members of Saccharum spp. are attractive biofuel feedstocks. One of the two World Collections of Sugarcane and Related Grasses (WCSRG) is in Miami, FL. This WCSRG has 1002 accessions, presumably with valuable alleles for biomass, other important agronomic traits, and stress resistance. However, the WCSRG has not been fully exploited by breeders due to its lack of characterization and unmanageable population. In order to optimize the use of this genetic resource, we aim to 1) genotypically evaluate all the 1002 accessions to understand its genetic diversity and population structure and 2) form a core collection, which captures most of the genetic diversity in the WCSRG. We screened 36 microsatellite markers on 1002 genotypes and recorded 209 alleles. Genetic diversity of the WCSRG ranged from 0 to 0.5 with an average of 0.304. The population structure analysis and principal coordinate analysis revealed three clusters with all S. spontaneum in one cluster, S. officinarum and S. hybrids in the second cluster and mostly non-Saccharum spp. in the third cluster. A core collection of 300 accessions was identified which captured the maximum genetic diversity of the entire WCSRG which can be further exploited for sugarcane and energy cane breeding. Sugarcane and energy cane breeders can effectively utilize this core collection for cultivar improvement. Further, the core collection can provide resources for forming an association panel to evaluate the traits of agronomic and commercial importance. PMID:25333358

  7. Promoting utilization of Saccharum spp. genetic resources through genetic diversity analysis and core collection construction.

    Directory of Open Access Journals (Sweden)

    Spurthi N Nayak

    Full Text Available Sugarcane (Saccharum spp. and other members of Saccharum spp. are attractive biofuel feedstocks. One of the two World Collections of Sugarcane and Related Grasses (WCSRG is in Miami, FL. This WCSRG has 1002 accessions, presumably with valuable alleles for biomass, other important agronomic traits, and stress resistance. However, the WCSRG has not been fully exploited by breeders due to its lack of characterization and unmanageable population. In order to optimize the use of this genetic resource, we aim to 1 genotypically evaluate all the 1002 accessions to understand its genetic diversity and population structure and 2 form a core collection, which captures most of the genetic diversity in the WCSRG. We screened 36 microsatellite markers on 1002 genotypes and recorded 209 alleles. Genetic diversity of the WCSRG ranged from 0 to 0.5 with an average of 0.304. The population structure analysis and principal coordinate analysis revealed three clusters with all S. spontaneum in one cluster, S. officinarum and S. hybrids in the second cluster and mostly non-Saccharum spp. in the third cluster. A core collection of 300 accessions was identified which captured the maximum genetic diversity of the entire WCSRG which can be further exploited for sugarcane and energy cane breeding. Sugarcane and energy cane breeders can effectively utilize this core collection for cultivar improvement. Further, the core collection can provide resources for forming an association panel to evaluate the traits of agronomic and commercial importance.

  8. Promoting utilization of Saccharum spp. genetic resources through genetic diversity analysis and core collection construction.

    Science.gov (United States)

    Nayak, Spurthi N; Song, Jian; Villa, Andrea; Pathak, Bhuvan; Ayala-Silva, Tomas; Yang, Xiping; Todd, James; Glynn, Neil C; Kuhn, David N; Glaz, Barry; Gilbert, Robert A; Comstock, Jack C; Wang, Jianping

    2014-01-01

    Sugarcane (Saccharum spp.) and other members of Saccharum spp. are attractive biofuel feedstocks. One of the two World Collections of Sugarcane and Related Grasses (WCSRG) is in Miami, FL. This WCSRG has 1002 accessions, presumably with valuable alleles for biomass, other important agronomic traits, and stress resistance. However, the WCSRG has not been fully exploited by breeders due to its lack of characterization and unmanageable population. In order to optimize the use of this genetic resource, we aim to 1) genotypically evaluate all the 1002 accessions to understand its genetic diversity and population structure and 2) form a core collection, which captures most of the genetic diversity in the WCSRG. We screened 36 microsatellite markers on 1002 genotypes and recorded 209 alleles. Genetic diversity of the WCSRG ranged from 0 to 0.5 with an average of 0.304. The population structure analysis and principal coordinate analysis revealed three clusters with all S. spontaneum in one cluster, S. officinarum and S. hybrids in the second cluster and mostly non-Saccharum spp. in the third cluster. A core collection of 300 accessions was identified which captured the maximum genetic diversity of the entire WCSRG which can be further exploited for sugarcane and energy cane breeding. Sugarcane and energy cane breeders can effectively utilize this core collection for cultivar improvement. Further, the core collection can provide resources for forming an association panel to evaluate the traits of agronomic and commercial importance.

  9. Timing Analysis of Genetic Logic Circuits using D-VASim

    DEFF Research Database (Denmark)

    Baig, Hasan; Madsen, Jan

    A genetic logic circuit is a gene regulator network implemented by re-engineering the DNA of a cell, in order to controlgene expression or metabolic pathways, through a logic combination of external signals, such as chemicals or proteins. As for electroniclogic circuits, timing and propagation...... delay analysis may play a very significant role in the designing of genetic logic circuits. In thisdemonstration, we present the capability of D-VASim (Dynamic Virtual Analyzer and Simulator) to perform the timing and propagationdelay analysis of genetic logic circuits. Using D-VASim, the timing...... and propagation delay analysis of single as well as cascaded geneticlogic circuits can be performed. D-VASim allows user to change the circuit parameters during runtime simulation to observe its effectson circuit’s timing behavior. The results obtained from D-VASim can be used not only to characterize the timing...

  10. Analysis of Variance Components for Genetic Markers with Unphased Genotypes.

    Science.gov (United States)

    Wang, Tao

    2016-01-01

    An ANOVA type general multi-allele (GMA) model was proposed in Wang (2014) on analysis of variance components for quantitative trait loci or genetic markers with phased or unphased genotypes. In this study, by applying the GMA model, we further examine estimation of the genetic variance components for genetic markers with unphased genotypes based on a random sample from a study population. In one locus and two loci cases, we first derive the least square estimates (LSE) of model parameters in fitting the GMA model. Then we construct estimators of the genetic variance components for one marker locus in a Hardy-Weinberg disequilibrium population and two marker loci in an equilibrium population. Meanwhile, we explore the difference between the classical general linear model (GLM) and GMA based approaches in association analysis of genetic markers with quantitative traits. We show that the GMA model can retain the same partition on the genetic variance components as the traditional Fisher's ANOVA model, while the GLM cannot. We clarify that the standard F-statistics based on the partial reductions in sums of squares from GLM for testing the fixed allelic effects could be inadequate for testing the existence of the variance component when allelic interactions are present. We point out that the GMA model can reduce the confounding between the allelic effects and allelic interactions at least for independent alleles. As a result, the GMA model could be more beneficial than GLM for detecting allelic interactions.

  11. Genetic analysis of photosynthesis in Rhodospirillum centenum.

    Science.gov (United States)

    Yildiz, F H; Gest, H; Bauer, C E

    1991-01-01

    A genetic system has been developed for studying bacterial photosynthesis in the recently described nonsulfur purple photosynthetic bacterium Rhodospirillum centenum. Nonphotosynthetic mutants of R. centenum were obtained by enrichment for spontaneous mutations, by ethyl methanesulfonate mutagenesis coupled to penicillin selection on solid medium, and by Tn5 transposition mutagenesis with an IncP plasmid vector containing a temperature-sensitive origin of replication. In vivo and in vitro characterization of individual strains demonstrated that 38 strains contained mutations that blocked bacteriochlorophyll a biosynthesis at defined steps of the biosynthetic pathway. Collectively, these mutations were shown to block seven of eight steps of the pathway leading from protoporphyrin IX to bacteriochlorophyll a. Three mutants were isolated in which carotenoid biosynthesis was blocked early in the biosynthetic pathway; the mutants also exhibited pleiotropic effects on stability or assembly of the photosynthetic apparatus. Five mutants failed to assemble a functional reaction center complex, and seven mutants contained defects in electron transport as shown by an alteration in cytochromes. In addition, several regulatory mutants were isolated that acquired enhanced repression of bacteriochlorophyll in response to the presence of molecular oxygen. The phenotypes of these mutants are discussed in relation to those of similar mutants of Rhodobacter and other Rhodospirillum species of purple photosynthetic bacteria. Images PMID:1648078

  12. Quantitative genetic analysis of injury liability in infants and toddlers

    Energy Technology Data Exchange (ETDEWEB)

    Phillips, K.; Matheny, A.P. Jr. [Univ. of Louisville Medical School, KY (United States)

    1995-02-27

    A threshold model of latent liability was applied to infant and toddler twin data on total count of injuries sustained during the interval from birth to 36 months of age. A quantitative genetic analysis of estimated twin correlations in injury liability indicated strong genetic dominance effects, but no additive genetic variance was detected. Because interpretations involving overdominance have little research support, the results may be due to low order epistasis or other interaction effects. Boys had more injuries than girls, but this effect was found only for groups whose parents were prompted and questioned in detail about their children`s injuries. Activity and impulsivity are two behavioral predictors of childhood injury, and the results are discussed in relation to animal research on infant and adult activity levels, and impulsivity in adult humans. Genetic epidemiological approaches to childhood injury should aid in targeting higher risk children for preventive intervention. 30 refs., 4 figs., 3 tabs.

  13. Genetic analysis of methylotrophic yeast Candida boidinii PLD1.

    Science.gov (United States)

    Lahtchev, K; Penkova, R; Ivanova, V; Tuneva, D

    1992-04-01

    This paper reports the initial experiments for genetic analysis of the haploid methylotrophic yeast Candida boidinii PLD1. The collection of multiply marked auxotrophic mutants was obtained after treatment with UV-light or X-rays. Protoplasts from several mutants were fused by the PEG-CA2+ technique and five prototrophic hybrids were isolated. The genetic structure of the hybrids was studied by means of spontaneous and induced mitotic segregation. Our data suggest that hybrids are diploids, heterozygous by parental auxotrophic markers. We obtained genetic linkage between mutations lys2-8-met-3 from one hand and ade-17-arg-24 from the other. The genetic maps constructed showed similar characteristics concerning both the order of the markers and their map distances.

  14. A genetic algorithm approach to routine gamma spectra analysis

    Energy Technology Data Exchange (ETDEWEB)

    Carlevaro, C M [Instituto de FIsica de LIquidos y Sistemas Biologicos, Calle 59 No 789, B1900BTE La Plata (Argentina); Wilkinson, M V [Autoridad Regulatoria Nuclear, Avda. del Libertador 8250, C1429BNP Buenos Aires (Argentina); Barrios, L A [Autoridad Regulatoria Nuclear, Avda. del Libertador 8250, C1429BNP Buenos Aires (Argentina)

    2008-01-15

    In this work we present an alternative method for performing routine gamma spectra analysis based on genetic algorithm techniques. The main idea is to search for patterns of single nuclide spectra obtained by simulation in a sample spectrum targeted for analysis. We show how this approach is applied to the analysis of simulated and real target spectra, and also to the study of interference resolution.

  15. Preliminary Design and Analysis of ITER In-Wall Shielding

    Institute of Scientific and Technical Information of China (English)

    LIU Changle; YU Jie; WU Songtao; CAI Yingxiang; PAN Wanjiang

    2007-01-01

    ITER in-wall shielding (IIS) is situated between the doubled shells of the ITER Vacuum Vessel (IVV). Its main functions are applied in shielding neutron, gamma-ray and toroidal field ripple reduction. The structure of IIS has been modelled according to the IVV design criteria which has been updated by the ITER team (IT). Static analysis and thermal expansion analysis were performed for the structure. Thermal-hydraulic analysis verified the heat removal capability and resulting temperature, pressure, and velocity changes in the coolant flow. Consequently, our design work is possibly suitable as a reference for IT's updated or final design in its next step.

  16. Preliminary Technical Risk Analysis for the Geothermal Technologies Program

    Energy Technology Data Exchange (ETDEWEB)

    None

    2009-01-18

    This report explains the goals, methods, and results of a probabilistic analysis of technical risk for a portfolio of R&D projects in the DOE Geothermal Technologies Program (The Program). The analysis is a task by Princeton Energy Resources International, LLC, in support of the National Renewable Energy Laboratory on behalf of the Program. The main challenge in the analysis lies in translating R&D results to a quantitative reflection of technical risk for a key Program metric: levelized cost of energy (LCOE).

  17. Cellular and genetic analysis of mouse blastocyst development

    Energy Technology Data Exchange (ETDEWEB)

    Pedersen, R A; Spindle, A I

    1979-01-01

    The development of mouse embryos was studied by both cellular and genetic approaches. In the cellular analysis, determination of cell fate in blastocysts and in cell populations derived from them was studied in an attempt to estimate the time that these cells become committed to their fate. In the genetic analysis, existing mutations that are lethal to mouse embryos were used to discern essential features of early development. In this review, the timing of cell determination in the inner cell mass and the primary ectoderm, and the manifestation of defects in mouse embryos that are homozygous for the A/sup y/ allele of the agouti locus were considered.

  18. Smoking and caffeine consumption: a genetic analysis of their association.

    Science.gov (United States)

    Treur, Jorien L; Taylor, Amy E; Ware, Jennifer J; Nivard, Michel G; Neale, Michael C; McMahon, George; Hottenga, Jouke-Jan; Baselmans, Bart M L; Boomsma, Dorret I; Munafò, Marcus R; Vink, Jacqueline M

    2017-07-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine. First, bivariate genetic models were applied to data of 10 368 twins from the Netherlands Twin Register in order to estimate genetic and environmental correlations between smoking and caffeine use. Second, from the summary statistics of meta-analyses of genome-wide association studies on smoking and caffeine, the genetic correlation was calculated by LD-score regression. Third, causal effects were tested using Mendelian randomization analysis in 6605 Netherlands Twin Register participants and 5714 women from the Avon Longitudinal Study of Parents and Children. Through twin modelling, a genetic correlation of r0.47 and an environmental correlation of r0.30 were estimated between current smoking (yes/no) and coffee use (high/low). Between current smoking and total caffeine use, this was r0.44 and r0.00, respectively. LD-score regression also indicated sizeable genetic correlations between smoking and coffee use (r0.44 between smoking heaviness and cups of coffee per day, r0.28 between smoking initiation and coffee use and r0.25 between smoking persistence and coffee use). Consistent with the relatively high genetic correlations and lower environmental correlations, Mendelian randomization provided no evidence for causal effects of smoking on caffeine or vice versa. Genetic factors thus explain most of the association between smoking and caffeine consumption. These findings suggest that quitting smoking may be more difficult for heavy caffeine consumers, given their genetic susceptibility. © 2016 The Authors.Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

  19. Genetic diversity analysis of common beans based on molecular markers.

    Science.gov (United States)

    Gill-Langarica, Homar R; Muruaga-Martínez, José S; Vargas-Vázquez, M L Patricia; Rosales-Serna, Rigoberto; Mayek-Pérez, Netzahualcoyotl

    2011-10-01

    A core collection of the common bean (Phaseolus vulgaris L.), representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico) Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions) was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each), as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP) +3/+3 primer combinations and seven simple sequence repeats (SSR) loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA) and molecular variance (AMOVA) analyses. AFLP analysis produced 530 bands (88.5% polymorphic) while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus). AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  20. Genetic diversity analysis of common beans based on molecular markers

    Directory of Open Access Journals (Sweden)

    Homar R. Gill-Langarica

    2011-01-01

    Full Text Available A core collection of the common bean (Phaseolus vulgaris L., representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each, as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP +3/+3 primer combinations and seven simple sequence repeats (SSR loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA and molecular variance (AMOVA analyses. AFLP analysis produced 530 bands (88.5% polymorphic while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus. AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  1. Genetic diversity analysis of common beans based on molecular markers

    Science.gov (United States)

    Gill-Langarica, Homar R.; Muruaga-Martínez, José S.; Vargas-Vázquez, M.L. Patricia; Rosales-Serna, Rigoberto; Mayek-Pérez, Netzahualcoyotl

    2011-01-01

    A core collection of the common bean (Phaseolus vulgaris L.), representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico) Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions) was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each), as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP) +3/+3 primer combinations and seven simple sequence repeats (SSR) loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA) and molecular variance (AMOVA) analyses. AFLP analysis produced 530 bands (88.5% polymorphic) while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus). AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation. PMID:22215964

  2. Genetic diversity analysis of common beans based on molecular markers

    Directory of Open Access Journals (Sweden)

    Homar R. Gill-Langarica

    Full Text Available A core collection of the common bean (Phaseolus vulgaris L., representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each, as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP +3/+3 primer combinations and seven simple sequence repeats (SSR loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA and molecular variance (AMOVA analyses. AFLP analysis produced 530 bands (88.5% polymorphic while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus. AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation.

  3. A new scoring system in Cystic Fibrosis: statistical tools for database analysis - a preliminary report.

    Science.gov (United States)

    Hafen, G M; Hurst, C; Yearwood, J; Smith, J; Dzalilov, Z; Robinson, P J

    2008-10-05

    Cystic fibrosis is the most common fatal genetic disorder in the Caucasian population. Scoring systems for assessment of Cystic fibrosis disease severity have been used for almost 50 years, without being adapted to the milder phenotype of the disease in the 21st century. The aim of this current project is to develop a new scoring system using a database and employing various statistical tools. This study protocol reports the development of the statistical tools in order to create such a scoring system. The evaluation is based on the Cystic Fibrosis database from the cohort at the Royal Children's Hospital in Melbourne. Initially, unsupervised clustering of the all data records was performed using a range of clustering algorithms. In particular incremental clustering algorithms were used. The clusters obtained were characterised using rules from decision trees and the results examined by clinicians. In order to obtain a clearer definition of classes expert opinion of each individual's clinical severity was sought. After data preparation including expert-opinion of an individual's clinical severity on a 3 point-scale (mild, moderate and severe disease), two multivariate techniques were used throughout the analysis to establish a method that would have a better success in feature selection and model derivation: 'Canonical Analysis of Principal Coordinates' and 'Linear Discriminant Analysis'. A 3-step procedure was performed with (1) selection of features, (2) extracting 5 severity classes out of a 3 severity class as defined per expert-opinion and (3) establishment of calibration datasets. (1) Feature selection: CAP has a more effective "modelling" focus than DA.(2) Extraction of 5 severity classes: after variables were identified as important in discriminating contiguous CF severity groups on the 3-point scale as mild/moderate and moderate/severe, Discriminant Function (DF) was used to determine the new groups mild, intermediate moderate, moderate, intermediate

  4. A new scoring system in Cystic Fibrosis: statistical tools for database analysis – a preliminary report

    Science.gov (United States)

    Hafen, GM; Hurst, C; Yearwood, J; Smith, J; Dzalilov, Z; Robinson, PJ

    2008-01-01

    Background Cystic fibrosis is the most common fatal genetic disorder in the Caucasian population. Scoring systems for assessment of Cystic fibrosis disease severity have been used for almost 50 years, without being adapted to the milder phenotype of the disease in the 21st century. The aim of this current project is to develop a new scoring system using a database and employing various statistical tools. This study protocol reports the development of the statistical tools in order to create such a scoring system. Methods The evaluation is based on the Cystic Fibrosis database from the cohort at the Royal Children's Hospital in Melbourne. Initially, unsupervised clustering of the all data records was performed using a range of clustering algorithms. In particular incremental clustering algorithms were used. The clusters obtained were characterised using rules from decision trees and the results examined by clinicians. In order to obtain a clearer definition of classes expert opinion of each individual's clinical severity was sought. After data preparation including expert-opinion of an individual's clinical severity on a 3 point-scale (mild, moderate and severe disease), two multivariate techniques were used throughout the analysis to establish a method that would have a better success in feature selection and model derivation: 'Canonical Analysis of Principal Coordinates' and 'Linear Discriminant Analysis'. A 3-step procedure was performed with (1) selection of features, (2) extracting 5 severity classes out of a 3 severity class as defined per expert-opinion and (3) establishment of calibration datasets. Results (1) Feature selection: CAP has a more effective "modelling" focus than DA. (2) Extraction of 5 severity classes: after variables were identified as important in discriminating contiguous CF severity groups on the 3-point scale as mild/moderate and moderate/severe, Discriminant Function (DF) was used to determine the new groups mild, intermediate moderate

  5. A new scoring system in Cystic Fibrosis: statistical tools for database analysis – a preliminary report

    Directory of Open Access Journals (Sweden)

    Yearwood J

    2008-10-01

    Full Text Available Abstract Background Cystic fibrosis is the most common fatal genetic disorder in the Caucasian population. Scoring systems for assessment of Cystic fibrosis disease severity have been used for almost 50 years, without being adapted to the milder phenotype of the disease in the 21st century. The aim of this current project is to develop a new scoring system using a database and employing various statistical tools. This study protocol reports the development of the statistical tools in order to create such a scoring system. Methods The evaluation is based on the Cystic Fibrosis database from the cohort at the Royal Children's Hospital in Melbourne. Initially, unsupervised clustering of the all data records was performed using a range of clustering algorithms. In particular incremental clustering algorithms were used. The clusters obtained were characterised using rules from decision trees and the results examined by clinicians. In order to obtain a clearer definition of classes expert opinion of each individual's clinical severity was sought. After data preparation including expert-opinion of an individual's clinical severity on a 3 point-scale (mild, moderate and severe disease, two multivariate techniques were used throughout the analysis to establish a method that would have a better success in feature selection and model derivation: 'Canonical Analysis of Principal Coordinates' and 'Linear Discriminant Analysis'. A 3-step procedure was performed with (1 selection of features, (2 extracting 5 severity classes out of a 3 severity class as defined per expert-opinion and (3 establishment of calibration datasets. Results (1 Feature selection: CAP has a more effective "modelling" focus than DA. (2 Extraction of 5 severity classes: after variables were identified as important in discriminating contiguous CF severity groups on the 3-point scale as mild/moderate and moderate/severe, Discriminant Function (DF was used to determine the new groups mild

  6. Performance analysis tool (PATO): Development and preliminary validation

    National Research Council Canada - National Science Library

    Fernando Martins; Filipe Clemente; Frutuoso Silva

    2017-01-01

    .... The Performance Analysis Tool (PATO) software was built with the aim to quickly codify relationships between players and built the adjacency matrices that can be used to test the network measures...

  7. Preliminary Technical Risk Analysis for the Geothermal Technologies Program

    Energy Technology Data Exchange (ETDEWEB)

    McVeigh, J.; Cohen, J.; Vorum, M.; Porro, G.; Nix, G.

    2007-03-01

    This report explains the goals, methods, and results of a probabilistic analysis of technical risk for a portfolio of R&D projects in the DOE Geothermal Technologies Program ('the Program'). The analysis is a task by Princeton Energy Resources International, LLC (PERI), in support of the National Renewable Energy Laboratory (NREL) on behalf of the Program. The main challenge in the analysis lies in translating R&D results to a quantitative reflection of technical risk for a key Program metric: levelized cost of energy (LCOE). This requires both computational development (i.e., creating a spreadsheet-based analysis tool) and a synthesis of judgments by a panel of researchers and experts of the expected results of the Program's R&D.

  8. Integrated transcriptome and methylome analysis in youth at high risk for bipolar disorder: a preliminary analysis.

    Science.gov (United States)

    Fries, G R; Quevedo, J; Zeni, C P; Kazimi, I F; Zunta-Soares, G; Spiker, D E; Bowden, C L; Walss-Bass, C; Soares, J C

    2017-03-14

    First-degree relatives of patients with bipolar disorder (BD), particularly their offspring, have a higher risk of developing BD and other mental illnesses than the general population. However, the biological mechanisms underlying this increased risk are still unknown, particularly because most of the studies so far have been conducted in chronically ill adults and not in unaffected youth at high risk. In this preliminary study we analyzed genome-wide expression and methylation levels in peripheral blood mononuclear cells from children and adolescents from three matched groups: BD patients, unaffected offspring of bipolar parents (high risk) and controls (low risk). By integrating gene expression and DNA methylation and comparing the lists of differentially expressed genes and differentially methylated probes between groups, we were able to identify 43 risk genes that discriminate patients and high-risk youth from controls. Pathway analysis showed an enrichment of the glucocorticoid receptor (GR) pathway with the genes MED1, HSPA1L, GTF2A1 and TAF15, which might underlie the previously reported role of stress response in the risk for BD in vulnerable populations. Cell-based assays indicate a GR hyporesponsiveness in cells from adult BD patients compared to controls and suggest that these GR-related genes can be modulated by DNA methylation, which poses the theoretical possibility of manipulating their expression as a means to counteract the familial risk presented by those subjects. Although preliminary, our results suggest the utility of peripheral measures in the identification of biomarkers of risk in high-risk populations and further emphasize the potential role of stress and DNA methylation in the risk for BD in youth.

  9. Cerebral blood volume calculated by dynamic susceptibility contrast-enhanced perfusion MR imaging: preliminary correlation study with glioblastoma genetic profiles.

    Directory of Open Access Journals (Sweden)

    Inseon Ryoo

    Full Text Available PURPOSE: To evaluate the usefulness of dynamic susceptibility contrast (DSC enhanced perfusion MR imaging in predicting major genetic alterations in glioblastomas. MATERIALS AND METHODS: Twenty-five patients (M:F = 13∶12, mean age: 52.1±15.2 years with pathologically proven glioblastoma who underwent DSC MR imaging before surgery were included. On DSC MR imaging, the normalized relative tumor blood volume (nTBV of the enhancing solid portion of each tumor was calculated by using dedicated software (Nordic TumorEX, NordicNeuroLab, Bergen, Norway that enabled semi-automatic segmentation for each tumor. Five major glioblastoma genetic alterations (epidermal growth factor receptor (EGFR, phosphatase and tensin homologue (PTEN, Ki-67, O6-methylguanine-DNA methyltransferase (MGMT and p53 were confirmed by immunohistochemistry and analyzed for correlation with the nTBV of each tumor. Statistical analysis was performed using the unpaired Student t test, ROC (receiver operating characteristic curve analysis and Pearson correlation analysis. RESULTS: The nTBVs of the MGMT methylation-negative group (mean 9.5±7.5 were significantly higher than those of the MGMT methylation-positive group (mean 5.4±1.8 (p = .046. In the analysis of EGFR expression-positive group, the nTBVs of the subgroup with loss of PTEN gene expression (mean: 10.3±8.1 were also significantly higher than those of the subgroup without loss of PTEN gene expression (mean: 5.6±2.3 (p = .046. Ki-67 labeling index indicated significant positive correlation with the nTBV of the tumor (p = .01. CONCLUSION: We found that glioblastomas with aggressive genetic alterations tended to have a high nTBV in the present study. Thus, we believe that DSC-enhanced perfusion MR imaging could be helpful in predicting genetic alterations that are crucial in predicting the prognosis of and selecting tailored treatment for glioblastoma patients.

  10. A genetic analysis of retinitis pigmentosa

    Directory of Open Access Journals (Sweden)

    Shanker Jayashree

    1993-01-01

    Full Text Available The data consists of sixty probands affected with Retinitis pigmentosa. Syndromic cases were found in five percent of the RP probands. Segregation analysis was carried out on proband sibship data. The ascertainment probability was estimated at 0.5517. Analysis of the data by parental mating types of proband sibships indicated the presence of dominant forms of RP (2.05%. Analysis of proband sibships indicated the presence of low risk families in the Normal x Normal matings (45% and in the consanguineous matings (40%. The hypothesis of recessive inheritance could be confirmed only in multiplex sibships (p = 0.383 +/- 0.0793. Data on proband matings though incomplete conformed in general to autosomal recessive gene hypothesis.

  11. A genetic analysis of Adh1 regulation

    Energy Technology Data Exchange (ETDEWEB)

    Freeling, M.

    1992-01-01

    The overall goal of our research proposal is to understand the meaning of the various cis-acting sites responsible for AdH1 expression in the entire maize plant. Progress is reported in the following areas: Studies on the TATA box and analysis of revertants of the Adh1-3F1124 allele; screening for more different mutants that affect Adh1 expression differentially; studies on cis-acting sequences required for root-specific Adh1 expression; refinement of the use of the particle gun; and functional analysis of a non- glycolytic anaerobic protein.

  12. A Genetic Analysis of Mortality in Pigs

    DEFF Research Database (Denmark)

    Varona, Luis; Sorensen, Daniel

    2010-01-01

    An analysis of mortality is undertaken in two breeds of pigs: Danish Landrace and Yorkshire. Zero-inflated and standard versions of hierarchical Poisson, binomial, and negative binomial Bayesian models were fitted using Markov chain Monte Carlo (MCMC). The objectives of the study were to investig...

  13. Genetic analysis of maternal ability in Iberian pigs.

    Science.gov (United States)

    Rodriguez, C; Rodrigañez, J; Silio, L

    1994-01-12

    A practical measure of milk yield of the sow is the weight of the litter at three weeks of age when the piglet growth is entirely dependent on the milking ability of the dam. Genetic parameters of litter size at birth (LS) and litter weight at 21 days (LW21) were estimated using a DFREML procedure from records of 4883 litters (2,049 for LW21) of Iberian breed. Preliminary analysis showed negligible maternal genetic effects. The model for both traits included the fixed effects of farrowing period (86 levels), parity (6) and inbreeding coefficients of dam (Fd) and litter (F(1) ) as co-variables, and three random effects-additive genetic value, permanent environmental effect and residual on both traits. Heritability and repeatability estimates were 0.064 and 0.126 (LS) and 0.163 and 0.270 (LW21) respectively. Estimated genetic and phenotypic correlations were 0.214 and 0.043. The inbreeding depression per 10 % increase of Fd or F(1) was -0.150 or -0.170 in live piglets and -0.983 or -1.023 kg of litter weight. When the model for LW21 included the dam inbreeding and the number of suckling piglets as co-variables, the heritability and repeatability estimates were 0.243 and 0.431 respectively. A complementary analysis was carried out on individual records (weight at 21 days) of 26206 piglets farrowed by 1317 sows. The model included the fixed effects of sex, farrowing period, parity, and the inbreeding coefficients of dam and individual, as co-variables. A total of four random effects were also included: direct and maternal genetic effects, common environmental effects and residual. Estimates of heritability, maternal heritability and common environmental coefficient were, respectively, 0.019, 0.163 and 0.128, reinforcing the evidence of genetic variance for milk producing ability in Iberian sows. The estimated values of inbreeding depression for piglet weight at 21 days were -0.072 and -0.098 kg per 10 % increase in dam or litter inbreeding. ZUSAMMENFASSUNG: Genetische

  14. Genetics

    Science.gov (United States)

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

  15. Bioelectrical impedance analysis for bovine milk: Preliminary results

    Science.gov (United States)

    Bertemes-Filho, P.; Valicheski, R.; Pereira, R. M.; Paterno, A. S.

    2010-04-01

    This work reports the investigation and analysis of bovine milk quality by using biological impedance measurements using electrical impedance spectroscopy (EIS). The samples were distinguished by a first chemical analysis using Fourier transform midinfrared spectroscopy (FTIR) and flow citometry. A set of milk samples (100ml each) obtained from 17 different cows in lactation with and without mastitis were analyzed with the proposed technique using EIS. The samples were adulterated by adding distilled water and hydrogen peroxide in a controlled manner. FTIR spectroscopy and flow cytometry were performed, and impedance measurements were made in a frequency range from 500Hz up to 1MHz with an implemented EIS system. The system's phase shift was compensated by measuring saline solutions. It was possible to show that the results obtained with the Bioelectrical Impedance Analysis (BIA) technique may detect changes in the milk caused by mastitis and the presence of water and hydrogen peroxide in the bovine milk.

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

    Science.gov (United States)

    Klein, Hans-Georg; Rost, Imma

    2015-02-01

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

  17. A Preliminary Analysis of a Behavioral Classrooms Needs Assessment

    Science.gov (United States)

    Leaf, Justin B.; Leaf, Ronald; McCray, Cynthia; Lamkins, Carol; Taubman, Mitchell; McEachin, John; Cihon, Joseph H.

    2016-01-01

    Today many special education classrooms implement procedures based upon the principles of Applied Behavior Analysis (ABA) to establish educationally relevant skills and decrease aberrant behaviors. However, it is difficult for school staff and consultants to evaluate the implementation of various components of ABA and general classroom set up. In…

  18. A Preliminary MANPRINT Evaluation of the All Source Analysis (ASAS)

    Science.gov (United States)

    1988-11-01

    Rear (CEWI) FSIC ............................ 2 CEWI ( TCAE ) AIM(6) ........................... 2 DTOC AIM(6...Sensors and the Ml Battalion TCAE ..... ............... . 13 2. Ratings of Understanding of Tasks Required at the Completion of Training and at the...for transmission to the sensors and jammers. CEWI Tactical Control and Analysis Element ( TCAE ) AIM(6) The AIM module consists of a VAX 750R computer

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

    OpenAIRE

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

    2015-01-01

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

  20. Landscape genetics applied to a recovering otter (Lutra lutra ppopulation in the UK: preliminary results and potential methodologies

    Directory of Open Access Journals (Sweden)

    Geoffrey Hobbs

    2006-09-01

    Full Text Available Abstract
    The Eurasian otter (Lutra lutra has declined significantly across its European range. In the UK, the decline was particularly severe during the late 1950’s and early 1960’s, and by the mid 1970’s the population was largely confined to strongholds in parts of Scotland, Northern Ireland, mid and West Wales and south west England. In recent years the otter population has started to recover, with otter surveys confirming an increased distribution of otters in Wales, Scotland and England. In England, population expansion and recolonisation is believed to be occurring both through breeding and by dispersal, from the west (south west England and the Welsh borders and from the north (Scotland. However, little is known about the degree of genetic loss due to the decline, potential barriers to recolonisation, routes of dispersal, or the contribution of reintroduction programmes to population increases. This project aims to use tissues collected since 1994 (complete with geographic location from over 500 otters found dead on roads in Wales and England, to analyse the genetic diversity and structure of otter populations. Using molecular genetic analysis of the otter population, we will identify whether and when bottlenecks occurred, whether population decline has resulted in a loss of genetic variability, and to what degree. Preliminaryanalysis from 177 otters has shown that observed is generally lower than expected het- erozygosity, and that the population is in Hardy Weinberg equilibrium for 11 out of the 15 loci. Spatial patterns in genetic data will be analysed, to identify clines, isolation by distance and genetic boundaries to gene flow, the contribution of released animals will also beassessed. Geographical information systems (GIS will be used to map spatial genetic pat- terns and to generate hypotheses about the potential cause of genetic boundaries such as landscape or environmental features. RIASSUNTO – La

  1. SSR Analysis of Genetic Diversity Among 192 Diploid Potato Cultivars

    Directory of Open Access Journals (Sweden)

    Xiaoyan Song

    2016-05-01

    Full Text Available In potato breeding, it is difficult to improve the traits of interest at the tetraploid level due to the tetrasomic inheritance. A promising alternative is diploid breeding. Thus it is necessary to assess the genetic diversity of diploid potato germplasm for efficient exploration and deployment of desirable traits. In this study, we used SSR markers to evaluate the genetic diversity of diploid potato cultivars. To screen polymorphic SSR markers, 55 pairs of SSR primers were employed to amplify 39 cultivars with relatively distant genetic relationships. Among them, 12 SSR markers with high polymorphism located at 12 chromosomes were chosen to evaluate the genetic diversity of 192 diploid potato cultivars. The primers produced 6 to 18 bands with an average of 8.2 bands per primer. In total, 98 bands were amplified from 192 cultivars, and 97 of them were polymorphic. Cluster analysis using UPGMA showed the genetic relationships of all accessions tested: 186 of the 192 accessions could be distinguished by only 12 pairs of SSR primers, and the 192 diploid cultivars were divided into 11 groups, and 83.3% constituted the first group. Clustering results showed relatively low genetic diversity among 192 diploid cultivars, with closer relationship at the molecular level. The results can provide molecular basis for diploid potato breeding.

  2. Genetic analysis in the Collaborative Cross breeding population.

    Science.gov (United States)

    Philip, Vivek M; Sokoloff, Greta; Ackert-Bicknell, Cheryl L; Striz, Martin; Branstetter, Lisa; Beckmann, Melissa A; Spence, Jason S; Jackson, Barbara L; Galloway, Leslie D; Barker, Paul; Wymore, Ann M; Hunsicker, Patricia R; Durtschi, David C; Shaw, Ginger S; Shinpock, Sarah; Manly, Kenneth F; Miller, Darla R; Donohue, Kevin D; Culiat, Cymbeline T; Churchill, Gary A; Lariviere, William R; Palmer, Abraham A; O'Hara, Bruce F; Voy, Brynn H; Chesler, Elissa J

    2011-08-01

    Genetic reference populations in model organisms are critical resources for systems genetic analysis of disease related phenotypes. The breeding history of these inbred panels may influence detectable allelic and phenotypic diversity. The existing panel of common inbred strains reflects historical selection biases, and existing recombinant inbred panels have low allelic diversity. All such populations may be subject to consequences of inbreeding depression. The Collaborative Cross (CC) is a mouse reference population with high allelic diversity that is being constructed using a randomized breeding design that systematically outcrosses eight founder strains, followed by inbreeding to obtain new recombinant inbred strains. Five of the eight founders are common laboratory strains, and three are wild-derived. Since its inception, the partially inbred CC has been characterized for physiological, morphological, and behavioral traits. The construction of this population provided a unique opportunity to observe phenotypic variation as new allelic combinations arose through intercrossing and inbreeding to create new stable genetic combinations. Processes including inbreeding depression and its impact on allelic and phenotypic diversity were assessed. Phenotypic variation in the CC breeding population exceeds that of existing mouse genetic reference populations due to both high founder genetic diversity and novel epistatic combinations. However, some focal evidence of allele purging was detected including a suggestive QTL for litter size in a location of changing allele frequency. Despite these inescapable pressures, high diversity and precision for genetic mapping remain. These results demonstrate the potential of the CC population once completed and highlight implications for development of related populations.

  3. A genetic analysis of Adhl regulation

    Energy Technology Data Exchange (ETDEWEB)

    Freeling, M.

    1992-01-01

    Several separate but related studies are reported on the mechanism of alcohol dehydrogenase (Adh-1) are reported. A study of a deletion mutation in the TATA box region which resulted in an increase from 6--60% of wildtype Adh-1 expression in the revertant has led to a focus on trans-acting protein factors that bind the TATA box. Analysis of another revertant has led to study of cis-acting sequences in Adh-1 expression. Screening efforts aimed at defining different mutants affecting Adh-1 expression are reported.

  4. Preliminary shielding analysis for the CSNS target station monolith

    Institute of Scientific and Technical Information of China (English)

    张斌; 陈义学; 杨寿海; 吴军; 殷雯; 梁天骄; 贾学军

    2010-01-01

    The construction of the China Spallation Neutron Source (CSNS) has been initiated at Dongguan,Guangdong,China.In spallation neutron sources the target station monolith is contaminated by a large number of fast neutrons whose energies can be as large as those of the protons of the proton beam directed towards the tungsten target.A detailed radiation transport analysis of the target station monolith is important for the construction of the CSNS.The analysis is performed using the coupled Monte Carlo and multi-dimensional discrete ordinates method.Successful elimination of the primary ray effects via the two-dimensional uncollided flux and first collision source methodology is also illustrated.The dose at the edge of the monolith is calculated.The results demonstrate that the doses received by the hall staff members are below the required standard limit.

  5. The power of multiplexed functional analysis of genetic variants.

    Science.gov (United States)

    Gasperini, Molly; Starita, Lea; Shendure, Jay

    2016-10-01

    New technologies have recently enabled saturation mutagenesis and functional analysis of nearly all possible variants of regulatory elements or proteins of interest in single experiments. Here we discuss the past, present, and future of such multiplexed (functional) assays for variant effects (MAVEs). MAVEs provide detailed insight into sequence-function relationships, and they may prove critical for the prospective clinical interpretation of genetic variants.

  6. Preliminary analysis of productivity of fruiting fungi on Strzeleckie meadows

    Directory of Open Access Journals (Sweden)

    Barbara Sadowska

    2014-11-01

    Full Text Available Analysis demonstrated that the fresh ahd dry weight as well as the ash content of fungal fruit bodies collected on a forest-surrounded unmown meadow (Stellario-Deschampsietum Freitag 1957 and Caricetum elatae W.Koch 1926 were lower than the same values for a plot of exploited mown meadow and higher than on an exploited unmown meadow (Arrhenatheretum medioeuropaeum (Br.-Bl. Oberd. 1952.

  7. Preliminary analysis of knee stress in Full Extension Landing

    Directory of Open Access Journals (Sweden)

    Majid Davoodi Makinejad

    2013-09-01

    Full Text Available OBJECTIVE: This study provides an experimental and finite element analysis of knee-joint structure during extended-knee landing based on the extracted impact force, and it numerically identifies the contact pressure, stress distribution and possibility of bone-to-bone contact when a subject lands from a safe height. METHODS: The impact time and loads were measured via inverse dynamic analysis of free landing without knee flexion from three different heights (25, 50 and 75 cm, using five subjects with an average body mass index of 18.8. Three-dimensional data were developed from computed tomography scans and were reprocessed with modeling software before being imported and analyzed by finite element analysis software. The whole leg was considered to be a fixed middle-hinged structure, while impact loads were applied to the femur in an upward direction. RESULTS: Straight landing exerted an enormous amount of pressure on the knee joint as a result of the body's inability to utilize the lower extremity muscles, thereby maximizing the threat of injury when the load exceeds the height-safety threshold. CONCLUSIONS: The researchers conclude that extended-knee landing results in serious deformation of the meniscus and cartilage and increases the risk of bone-to-bone contact and serious knee injury when the load exceeds the threshold safety height. This risk is considerably greater than the risk of injury associated with walking downhill or flexion landing activities.

  8. Castor bean organelle genome sequencing and worldwide genetic diversity analysis.

    Directory of Open Access Journals (Sweden)

    Maximo Rivarola

    Full Text Available Castor bean is an important oil-producing plant in the Euphorbiaceae family. Its high-quality oil contains up to 90% of the unusual fatty acid ricinoleate, which has many industrial and medical applications. Castor bean seeds also contain ricin, a highly toxic Type 2 ribosome-inactivating protein, which has gained relevance in recent years due to biosafety concerns. In order to gain knowledge on global genetic diversity in castor bean and to ultimately help the development of breeding and forensic tools, we carried out an extensive chloroplast sequence diversity analysis. Taking advantage of the recently published genome sequence of castor bean, we assembled the chloroplast and mitochondrion genomes extracting selected reads from the available whole genome shotgun reads. Using the chloroplast reference genome we used the methylation filtration technique to readily obtain draft genome sequences of 7 geographically and genetically diverse castor bean accessions. These sequence data were used to identify single nucleotide polymorphism markers and phylogenetic analysis resulted in the identification of two major clades that were not apparent in previous population genetic studies using genetic markers derived from nuclear DNA. Two distinct sub-clades could be defined within each major clade and large-scale genotyping of castor bean populations worldwide confirmed previously observed low levels of genetic diversity and showed a broad geographic distribution of each sub-clade.

  9. Castor bean organelle genome sequencing and worldwide genetic diversity analysis.

    Science.gov (United States)

    Rivarola, Maximo; Foster, Jeffrey T; Chan, Agnes P; Williams, Amber L; Rice, Danny W; Liu, Xinyue; Melake-Berhan, Admasu; Huot Creasy, Heather; Puiu, Daniela; Rosovitz, M J; Khouri, Hoda M; Beckstrom-Sternberg, Stephen M; Allan, Gerard J; Keim, Paul; Ravel, Jacques; Rabinowicz, Pablo D

    2011-01-01

    Castor bean is an important oil-producing plant in the Euphorbiaceae family. Its high-quality oil contains up to 90% of the unusual fatty acid ricinoleate, which has many industrial and medical applications. Castor bean seeds also contain ricin, a highly toxic Type 2 ribosome-inactivating protein, which has gained relevance in recent years due to biosafety concerns. In order to gain knowledge on global genetic diversity in castor bean and to ultimately help the development of breeding and forensic tools, we carried out an extensive chloroplast sequence diversity analysis. Taking advantage of the recently published genome sequence of castor bean, we assembled the chloroplast and mitochondrion genomes extracting selected reads from the available whole genome shotgun reads. Using the chloroplast reference genome we used the methylation filtration technique to readily obtain draft genome sequences of 7 geographically and genetically diverse castor bean accessions. These sequence data were used to identify single nucleotide polymorphism markers and phylogenetic analysis resulted in the identification of two major clades that were not apparent in previous population genetic studies using genetic markers derived from nuclear DNA. Two distinct sub-clades could be defined within each major clade and large-scale genotyping of castor bean populations worldwide confirmed previously observed low levels of genetic diversity and showed a broad geographic distribution of each sub-clade.

  10. Castor Bean Organelle Genome Sequencing and Worldwide Genetic Diversity Analysis

    Science.gov (United States)

    Chan, Agnes P.; Williams, Amber L.; Rice, Danny W.; Liu, Xinyue; Melake-Berhan, Admasu; Huot Creasy, Heather; Puiu, Daniela; Rosovitz, M. J.; Khouri, Hoda M.; Beckstrom-Sternberg, Stephen M.; Allan, Gerard J.; Keim, Paul; Ravel, Jacques; Rabinowicz, Pablo D.

    2011-01-01

    Castor bean is an important oil-producing plant in the Euphorbiaceae family. Its high-quality oil contains up to 90% of the unusual fatty acid ricinoleate, which has many industrial and medical applications. Castor bean seeds also contain ricin, a highly toxic Type 2 ribosome-inactivating protein, which has gained relevance in recent years due to biosafety concerns. In order to gain knowledge on global genetic diversity in castor bean and to ultimately help the development of breeding and forensic tools, we carried out an extensive chloroplast sequence diversity analysis. Taking advantage of the recently published genome sequence of castor bean, we assembled the chloroplast and mitochondrion genomes extracting selected reads from the available whole genome shotgun reads. Using the chloroplast reference genome we used the methylation filtration technique to readily obtain draft genome sequences of 7 geographically and genetically diverse castor bean accessions. These sequence data were used to identify single nucleotide polymorphism markers and phylogenetic analysis resulted in the identification of two major clades that were not apparent in previous population genetic studies using genetic markers derived from nuclear DNA. Two distinct sub-clades could be defined within each major clade and large-scale genotyping of castor bean populations worldwide confirmed previously observed low levels of genetic diversity and showed a broad geographic distribution of each sub-clade. PMID:21750729

  11. Understanding genetics: Analysis of secondary students' conceptual status

    Science.gov (United States)

    Tsui, Chi-Yan; Treagust, David F.

    2007-02-01

    This article explores the conceptual change of students in Grades 10 and 12 in three Australian senior high schools when the teachers included computer multimedia to a greater or lesser extent in their teaching of a genetics course. The study, underpinned by a multidimensional conceptual-change framework, used an interpretive approach and a case-based design with multiple data collection methods. Over 4-8 weeks, the students learned genetics in classroom lessons that included BioLogica activities, which feature multiple representations. Results of the online tests and interview tasks revealed that most students improved their understanding of genetics as evidenced in the development of genetics reasoning. However, using Thorley's (1990) status analysis categories, a cross-case analysis of the gene conceptions of 9 of the 26 students interviewed indicated that only 4 students' postinstructional conceptions were intelligible-plausible-fruitful. Students' conceptual change was consistent with classroom teaching and learning. Findings suggested that multiple representations supported conceptual understanding of genetics but not in all students. It was also shown that status can be a viable hallmark enabling researchers to identify students' conceptual change that would otherwise be less accessible. Thorley's method for analyzing conceptual status is discussed.

  12. Preliminary analysis of the mitochondrial genome evolutionary pattern in primates

    Institute of Scientific and Technical Information of China (English)

    Liang ZHAO; Xingtao ZHANG; Xingkui TAO; Weiwei WANG; Ming LI

    2012-01-01

    Since the birth of molecular evolutionary analysis,primates have been a central focus of study and mitochondrial DNA is well suited to these endeavors because of its unique features.Surprisingly,to date no comprehensive evaluation of the nucleotide substitution patterns has been conducted on the mitochondrial genome of primates.Here,we analyzed the evolutionary patterns and evaluated selection and recombination in the mitochondrial genomes of 44 Primates species downloaded from GenBank.The results revealed that a strong rate heterogeneity occurred among sites and genes in all comparisons.Likewise,an obvious decline in primate nucleotide diversity was noted in the subunit rRNAs and tRNAs as compared to the protein-coding genes.Within 13 protein-coding genes,the pattern of nonsynonymous divergence was similar to that of overall nucleotide divergence,while synonymous changes differed only for individual genes,indicating that the rate heterogeneity may result from the rate of change at nonsynonymous sites.Codon usage analysis revealed that there was intermediate codon usage bias in primate protein-coding genes,and supported the idea that GC mutation pressure might determine codon usage and that positive selection is not the driving force for the codon usage bias.Neutrality tests using site-specific positive selection from a Bayesian framework indicated no sites were under positive selection for any gene,consistent with near neutrality.Recombination tests based on the pairwise homoplasy test statistic supported complete linkage even for much older divergent primate species.Thus,with the exception of rate heterogeneity among mitochondrial genes,evaluating the validity assumed complete linkage and selective neutrality in primates prior to phylogenetic or phylogeographic analysis seems unnecessary.

  13. Preliminary analysis of the mitochondrial genome evolutionary pattern in primates.

    Science.gov (United States)

    Zhao, Liang; Zhang, Xingtao; Tao, Xingkui; Wang, Weiwei; Li, Ming

    2012-08-01

    Since the birth of molecular evolutionary analysis, primates have been a central focus of study and mitochondrial DNA is well suited to these endeavors because of its unique features. Surprisingly, to date no comprehensive evaluation of the nucleotide substitution patterns has been conducted on the mitochondrial genome of primates. Here, we analyzed the evolutionary patterns and evaluated selection and recombination in the mitochondrial genomes of 44 Primates species downloaded from GenBank. The results revealed that a strong rate heterogeneity occurred among sites and genes in all comparisons. Likewise, an obvious decline in primate nucleotide diversity was noted in the subunit rRNAs and tRNAs as compared to the protein-coding genes. Within 13 protein-coding genes, the pattern of nonsynonymous divergence was similar to that of overall nucleotide divergence, while synonymous changes differed only for individual genes, indicating that the rate heterogeneity may result from the rate of change at nonsynonymous sites. Codon usage analysis revealed that there was intermediate codon usage bias in primate protein-coding genes, and supported the idea that GC mutation pressure might determine codon usage and that positive selection is not the driving force for the codon usage bias. Neutrality tests using site-specific positive selection from a Bayesian framework indicated no sites were under positive selection for any gene, consistent with near neutrality. Recombination tests based on the pairwise homoplasy test statistic supported complete linkage even for much older divergent primate species. Thus, with the exception of rate heterogeneity among mitochondrial genes, evaluating the validity assumed complete linkage and selective neutrality in primates prior to phylogenetic or phylogeographic analysis seems unnecessary.

  14. Preliminary safety analysis for key design features of KALIMER-600

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Y. B.; Chang, W. P.; Suk, S. D.; Ha, K. S.; Jeong, H. Y.; Heo, S

    2004-03-01

    KAERI is developing the conceptual design of a Liquid Metal Reactor, KALIMER-600 (Korea Advanced LIquid MEtal Reactor) under the Long-term Nuclear R and D Program. KALIMER-600 addresses key issues regarding future nuclear power plants such as plant safety, economics, proliferation, and waste. In this report, key safety design features are described and safety analyses results for typical ATWS accidents in the KALIMER design with breakeven core are presented. First, the basic approach to achieve the safety goal is introduced in Chapter 1, and the event categorization and acceptance criteria for the KALIMER-600 safety analysis are described in Chapter 2. In Chapter 3, results of inherent safety evaluations for the KALIMER-600 conceptual design are presented. The KALIMER-600 core and plant system are designed to assure benign performance during a selected set of events without either reactor control or protection system intervention. Safety analyses for the postulated Anticipated Transient Without Scram (ATWS) have been performed using the SSC-K code to investigate the KALIMER-600 system response to the events. They are categorized as Bounding Events (BEs) because of their low probability of occurrence. In Chapter 4, the analysis of flow blockage for KALIMER-600 with the MATRA-LMR-FB code, which has been developed for the internal flow blockage in a LMR subassembly. The cases with a blockage of 6-subchannel, 24-subchannel, and 54-subchannel are analyzed.The performance analysis of the KALIMER-600 containment and some evaluations for the behaviors during HCDA will be performed later.

  15. Preliminary safety analysis for key design features of KALIMER

    Energy Technology Data Exchange (ETDEWEB)

    Hahn, D. H.; Kwon, Y. M.; Chang, W. P.; Suk, S. D.; Lee, S. O.; Lee, Y. B.; Jeong, K. S

    2000-07-01

    KAERI is currently developing the conceptual design of a liquid metal reactor, KALIMER(Korea Advanced Liquid Metal Reactor) under the long-term nuclear R and D program. In this report, descriptions of the KALIMER safety design features and safety analyses results for selected ATWS accidents are presented. First, the basic approach to achieve the safety goal is introduced in chapter 1, and the safety evaluation procedure for the KALIMER design is described in chapter 2. It includes event selection, event categorization, description of design basis events, and beyond design basis events. In chapter 3, results of inherent safety evaluations for the KALIMER conceptual design are presented. The KALIMER core and plant system are designed to assure design performance during a selected set of events without either reactor control or protection system intervention. Safety analyses for the postulated anticipated transient without scram(ATWS) have been performed to investigate the KALIMER system response to the events. They are categorized as bounding events(BEs) because of their low probability of occurrence. In chapter 4, the design of the KALIMER containment dome and the results of its performance analysis are presented. The designs of the existing LMR containment and the KALIMER containment dome have been compared in this chapter. Procedure of the containment performance analysis and the analysis results are described along with the accident scenario and source terms. Finally, a simple methodology is introduced to investigate the core kinetics and hydraulic behavior during HCDA in chapter 5. Mathematical formulations have been developed in the framework of the modified bethe-tait method, and scoping analyses have been performed for the KALIMER core behavior during super-prompt critical excursions.

  16. Preliminary RAMI analysis of DFLL TBS for ITER

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Dagui [Key Laboratory of Neutronics and Radiation Safety, Institute of Nuclear Energy Safety Technology, Chinese Academy of Sciences, Hefei, Anhui, 230031 (China); University of Science and Technology of China, Hefei, Anhui, 230031 (China); Yuan, Run [Key Laboratory of Neutronics and Radiation Safety, Institute of Nuclear Energy Safety Technology, Chinese Academy of Sciences, Hefei, Anhui, 230031 (China); Wang, Jiaqun, E-mail: jiaqun.wang@fds.org.cn [Key Laboratory of Neutronics and Radiation Safety, Institute of Nuclear Energy Safety Technology, Chinese Academy of Sciences, Hefei, Anhui, 230031 (China); Wang, Fang; Wang, Jin [Key Laboratory of Neutronics and Radiation Safety, Institute of Nuclear Energy Safety Technology, Chinese Academy of Sciences, Hefei, Anhui, 230031 (China)

    2016-11-15

    Highlights: • We performed the functional analysis of the DFLL TBS. • We performed a failure mode analysis of the DFLL TBS. • We estimated the reliability and availability of the DFLL TBS. • The ITER RAMI approach was applied to the DFLL TBS for technical risk control in the design phase. - Abstract: ITER is the first fusion machine fully designed to prove the physics and technological basis for next fusion power plants. Among the main technical objectives of ITER is to test and validate design concepts of tritium breeding blankets relevant to the fusion power plants. To achieve this goal, China has proposed the dual functional lithium-lead test blanket module (DFLL TBM) concept design. The DFLL TBM and its associated ancillary system were called DFLL TBS. The DFLL TBS play a key role in next fusion reactor. In order to ensure reliable and available of DFLL TBS, the risk control project of DFLL TBS has been put on the schedule. As the stage of the ITER technical risk control policy, the RAMI (Reliability, Availability, Maintainability, Inspectability) approach was used to control the technical risk of ITER. In this paper, the RAMI approach was performed on the conceptual design of DFLL TBS. A functional breakdown was prepared on DFLL TBS, and the system was divided into 3 main functions and 72 basic functions. Based on the result of functional breakdown of DFLL TBS, the reliability block diagrams were prepared to estimate the reliability and availability of each function under the stipulated operating conditions. The inherent availability of the DFLL TBS expected after implementation of mitigation actions was calculated to be 98.57% over 2 years based on the ITER reliability database. A Failure Modes Effects and Criticality Analysis (FMECA) was performed with criticality charts highlighting the risk level of the different failure modes with regard to their probability of occurrence and their effects on the availability.

  17. Macroalgae as a Biomass Feedstock: A Preliminary Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Roesijadi, Guritno; Jones, Susanne B.; Snowden-Swan, Lesley J.; Zhu, Yunhua

    2010-09-26

    A thorough of macroalgae analysis as a biofuels feedstock is warranted due to the size of this biomass resource and the need to consider all potential sources of feedstock to meet current biomass production goals. Understanding how to harness this untapped biomass resource will require additional research and development. A detailed assessment of environmental resources, cultivation and harvesting technology, conversion to fuels, connectivity with existing energy supply chains, and the associated economic and life cycle analyses will facilitate evaluation of this potentially important biomass resource.

  18. Statistical Analysis of Time Series Data (STATS). Users Manual (Preliminary)

    Science.gov (United States)

    1987-05-01

    15, 30. 60, 90, 120, andL -!/14:X.... 183 days are presently used. auto Page 1 of 10 wrpy *VtsE0> J1 record (continued) Field Variab Vlue D 2 NPRDS ...each event. 6 JEND + Order number of last period in time series to ( NPRDS ) select for analysis. If blank, the last period is assumed. 7 JPPF Plotting...values. 2 NPRDS + Actual number of periods for the event following on ’INO records until the next ID, BF, or LI record. IN record - T:E SERIES DATA

  19. Genetic associations in diabetic nephropathy: a meta-analysis.

    Science.gov (United States)

    Mooyaart, A L; Valk, E J J; van Es, L A; Bruijn, J A; de Heer, E; Freedman, B I; Dekkers, O M; Baelde, H J

    2011-03-01

    This meta-analysis assessed the pooled effect of each genetic variant reproducibly associated with diabetic nephropathy. PubMed, EMBASE and Web of Science were searched for articles assessing the association between genes and diabetic nephropathy. All genetic variants statistically associated with diabetic nephropathy in an initial study, then independently reproduced in at least one additional study, were selected. Subsequently, all studies assessing these variants were included. The association between these variants and diabetic nephropathy (defined as macroalbuminuria/proteinuria or end-stage renal disease [ESRD]) was calculated at the allele level and the main measure of effect was a pooled odds ratio. Pre-specified subgroup analyses were performed, stratifying for type 1/type 2 diabetes mellitus, proteinuria/ESRD and ethnic group. The literature search yielded 3,455 citations, of which 671 were genetic association studies investigating diabetic nephropathy. We identified 34 replicated genetic variants. Of these, 21 remained significantly associated with diabetic nephropathy in a random-effects meta-analysis. These variants were in or near the following genes: ACE, AKR1B1 (two variants), APOC1, APOE, EPO, NOS3 (two variants), HSPG2, VEGFA, FRMD3 (two variants), CARS (two variants), UNC13B, CPVL and CHN2, and GREM1, plus four variants not near genes. The odds ratios of associated genetic variants ranged from 0.48 to 1.70. Additional variants were detected in subgroup analyses: ELMO1 (Asians), CCR5 (Asians) and CNDP1 (type 2 diabetes). This meta-analysis found 24 genetic variants associated with diabetic nephropathy. The relative contribution and relevance of the identified genes in the pathogenesis of diabetic nephropathy should be the focus of future studies.

  20. Fusion genetic analysis of jasmonate-signalling mutants in Arabidopsis

    DEFF Research Database (Denmark)

    Jensen, Anders Bøgh; Raventos, D.; Mundy, John Williams

    2002-01-01

    Jasmonates induce plant-defence responses and act to regulate defence-related genes including positive feedback of the lipoxygenase 2 (LOX2) gene involved in jasmonate synthesis. To identify jasmonate-signalling mutants, we used a fusion genetic strategy in which the firefly luciferase (FLUC...... as two recessive mutants, designated joe1 and 2, that overexpress the reporter. Genetic analysis indicated that reporter overexpression in the joe mutants requires COI. joe1 responded to MeJA with increased anthocyanin accumulation, while joe2 responded with decreased root growth inhibition. In addition...

  1. Genetic diversity analysis of fruit characteristics of hawthorn germplasm.

    Science.gov (United States)

    Su, K; Guo, Y S; Wang, G; Zhao, Y H; Dong, W X

    2015-12-07

    One hundred and six accessions of hawthorn intraspecific resources, from the National Germplasm Repository at Shenyang, were subjected to genetic diversity and principal component analysis based on evaluation data of 15 fruit traits. Results showed that the genetic diversity of hawthorn fruit traits varied. Among the 15 traits, the fruit shape variable coefficient had the most obvious evaluation, followed by fruit surface state, dot color, taste, weight of single fruit, sepal posture, peduncle form, and metula traits. These are the primary traits by which hawthorn could be classified in the future. The principal component demonstrated that these traits are the most influential factors of hawthorn fruit characteristics.

  2. Genetic analysis of repeated, biparental, diploid, hydatidiform moles

    DEFF Research Database (Denmark)

    Sunde, L; Vejerslev, L O; Jensen, M P;

    1993-01-01

    A woman presented with five consecutive pregnancies displaying molar morphology. In the fifth pregnancy, a non-malformed, liveborn infant was delivered. Genetic analyses (RFLP analysis, cytogenetics, flow cytometry) were performed in pregnancies II-V. It was demonstrated that these pregnancies...... for the abnormal development can be envisaged, environmental as well as genetic. To conform to current ideas of molar pathogenesis, it is suggested that the present conceptuses might have arisen from imbalances in imprinted genomic regions. This could be a consequence of uniparental disomy in critical regions...

  3. Stellar Population Analysis of Galaxies based on Genetic Algorithms

    Institute of Scientific and Technical Information of China (English)

    Abdel-Fattah Attia; H.A.Ismail; I.M.Selim; A.M.Osman; I.A.Isaa; M.A.Marie; A.A.Shaker

    2005-01-01

    We present a new method for determining the age and relative contribution of different stellar populations in galaxies based on the genetic algorithm.We apply this method to the barred spiral galaxy NGC 3384, using CCD images in U, B, V, R and I bands. This analysis indicates that the galaxy NGC 3384 is mainly inhabited by old stellar population (age > 109 yr). Some problems were encountered when numerical simulations are used for determining the contribution of different stellar populations in the integrated color of a galaxy. The results show that the proposed genetic algorithm can search efficiently through the very large space of the possible ages.

  4. Error analysis on heading determination via genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    Zhong Bing; Xu Jiangning; Ma Heng

    2006-01-01

    A new error analysis method is presented via genetic algorithms for high precise heading determination model based on two total positioning stations (TPSs). The method has the ability to search all possible solution space by the genetic operators of elitist model and restriction. The result of analyzing the error of this model shows that the accuracy of this model is precise enough to meet the need of calibration for navigation systems on ship, and the search space is only 0.03% of the total search space, and the precision of heading determination is 4" in a general dock.

  5. Preliminary Rock Physics Analysis on Lodgepole Formation in Manitoba, Canada

    Science.gov (United States)

    Kim, N.; Keehm, Y.

    2012-12-01

    We present rock physics analysis results of Lodgepole Formation, a carbonate reservoir in Daly Field, Manitoba, Canada. We confirmed that the Lodgepole Formation can be divided into six units in the study area: Basal Limestone, Cromer Shale, Cruickshank Crinoidal, Cruickshank Shale, Daly member and Flossie Lake member from the bottom, using eight well log data and previous works. We then performed rock physics analyses on four carbonate units (Basal Limestone, Cruickshank Crinoidal, Daly and Flossie Lake), such as Vp-porosity, AI-porosity, DEM (differential effective medium) modeling, and fluid substitution analysis. In Vp-porosity domain, the top unit, Flossie Lake member has lower porosity and higher velocity, while the other units show similar porosity and velocity. We think that this results from the diagenesis of Flossie Lake member since it bounds with unconformity. However, the four units show very similar trend in Vp-porosity domain, and we can report one Vp-porosity relation for all carbonate units of the Lodgepole formation. We also found that the acoustic impedance varies more than 10% from low porosity zone (3-6%) to high porosity zone (9-12%) from AI-porosity analysis. Thus one can delineate high porosity zone from seismic impedance data. DEM modeling showed that Flossie Lake would have relatively low aspect ratio of pores than the others, which implies that the top unit has been influenced by diagenesis. To determine fluid sensitivity of carbonate units, we conducted fluid substitution on four units from 100% water to 100% oil. The top unit, Flossie Lake, showed slight increase of Vp, which seems to be density effect. The others showed small decrease of Vp, but not significant. If we observe Vp/Vs rather than Vp, the sensitivity increases. However, fluid discrimination would be difficult because of high stiffness of rock frame. In summary, three lower carbonate units of Lodgepole Formation would be prospective and high porosity zone can be delineated

  6. Brain hemisphere dominance and vocational preference: a preliminary analysis.

    Science.gov (United States)

    Szirony, Gary Michael; Pearson, L Carolyn; Burgin, John S; Murray, Gerald C; Elrod, Lisa Marie

    2007-01-01

    Recent developments in split-brain theory add support to the concept of specialization within brain hemispheres. Holland's vocational personality theory may overlap with Human Information Processing (HIP) characteristics. Holland's six RIASEC codes were developed to identify vocational personality characteristics, and HIP scales were designed to measure hemispheric laterality. Relationships between the two scales were evaluated through canonical correlation with some significant results, however not all Holland scale scores correlated with left, right, or integrated hemispheric preference. Additional findings related to participants self-perception of music and math ability were also correlated. Findings on this added analysis revealed a high correlation between perception of musical ability and right brain function but not between mathematical concept and left brain alone. Implications regarding vocational choice and work are discussed.

  7. City of Hoboken Energy Surety Analysis: Preliminary Design Summary

    Energy Technology Data Exchange (ETDEWEB)

    Stamp, Jason Edwin [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Military and Energy Systems Analysis Dept.; Baca, Michael J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Military and Energy Systems Analysis Dept.; Munoz-Ramos, Karina [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Military and Energy Systems Analysis Dept.; Schenkman, Benjamin L. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Military and Energy Systems Analysis Dept.; Eddy, John P. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Systems Readiness and Sustainment Technology Dept.; Smith, Mark A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Systems Readiness and Sustainment Technology Dept.; Guttromson, Ross [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Electric Power Systems Research Dept.; Henry, Jordan M. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Critical Infrastructure Systems Dept.; Jensen, Richard Pearson [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States). Geomechanics Dept.

    2014-09-01

    In 2012, Hurricane Sandy devastated much of the U.S. northeast coastal areas. Among those hardest hit was the small community of Hoboken, New Jersey, located on the banks of the Hudson River across from Manhattan. This report describes a city-wide electrical infrastructure design that uses microgrids and other infrastructure to ensure the city retains functionality should such an event occur in the future. The designs ensure that up to 55 critical buildings will retain power during blackout or flooded conditions and include analysis for microgrid architectures, performance parameters, system control, renewable energy integration, and financial opportunities (while grid connected). The results presented here are not binding and are subject to change based on input from the Hoboken stakeholders, the integrator selected to manage and implement the microgrid, or other subject matter experts during the detailed (final) phase of the design effort.

  8. Analysis of organochlorine pesticides in human milk: preliminary results.

    Science.gov (United States)

    Campoy, C; Jiménez, M; Olea-Serrano, M F; Moreno-Frías, M; Cañabate, F; Olea, N; Bayés, R; Molina-Font, J A

    2001-11-01

    In the face of evidence of human milk contamination by organochlorine pesticides, an analysis was performed on samples of milk obtained from healthy lactating women in the provinces of Granada and Almeria in Southern Spain. The samples were obtained by the Neonate Section of the Department of Pediatrics of Granada University Hospital (Neonatology Division) and by the Neonatal Service of Poniente Hospital in El Ejido, Almería. A liquid-liquid extraction procedure was performed. The cleaning of the sample before gas chromatography-mass spectrometry (GC-MS) used silica Sep-Pak. Among other pesticides, aldrin, dieldrin, DDT and its metabolites, lindane, methoxychlor and endosulfan were identified. The presence of these products was confirmed by mass spectrometry. The identification and quantification of these organochlorine molecules is important because they have estrogenic effects.

  9. Preliminary Analysis of a Fully Solid State Magnetocaloric Refrigeration

    Energy Technology Data Exchange (ETDEWEB)

    Abdelaziz, Omar [ORNL

    2016-01-01

    Magnetocaloric refrigeration is an alternative refrigeration technology with significant potential energy savings compared to conventional vapor compression refrigeration technology. Most of the reported active magnetic regenerator (AMR) systems that operate based on the magnetocaloric effect use heat transfer fluid to exchange heat, which results in complicated mechanical subsystems and components such as rotating valves and hydraulic pumps. In this paper, we propose an alternative mechanism for heat transfer between the AMR and the heat source/sink. High-conductivity moving rods/sheets (e.g. copper, brass, iron, graphite, aluminum or composite structures from these) are utilized instead of heat transfer fluid significantly enhancing the heat transfer rate hence cooling/heating capacity. A one-dimensional model is developed to study the solid state AMR. In this model, the heat exchange between the solid-solid interfaces is modeled via a contact conductance, which depends on the interface apparent pressure, material hardness, thermal conductivity, surface roughness, surface slope between the interfaces, and material filled in the gap between the interfaces. Due to the tremendous impact of the heat exchange on the AMR cycle performance, a sensitivity analysis is conducted employing a response surface method, in which the apparent pressure, effective surface roughness and grease thermal conductivity are the uncertainty factors. COP and refrigeration capacity are presented as the response in the sensitivity analysis to reveal the important factors influencing the fully solid state AMR and optimize the solid state AMR efficiency. The performances of fully solid state AMR and traditional AMR are also compared and discussed in present work. The results of this study will provide general guidelines for designing high performance solid state AMR systems.

  10. Preliminary analysis of cerebrospinal fluid proteome in patients with neurocysticercosis

    Institute of Scientific and Technical Information of China (English)

    TIAN Xiao-jun; LI Jing-yi; HUANG Yong; XUE Yan-ping

    2009-01-01

    Background Neurocysticercosis is the infection of the nervous system by the larvae of Taenia solium (T. solium). Despite continuous effort, the experimental diagnosis of neurocysticercosis remains unresolved. Since the cerebrospinal fluid (CSF) contacts with the brain, dynamic information about pathological processes of the brain is likely to be reflected in CSF. Therefore, CSF may serve as a rich source of putative biomarkers related to neurocysticercosis. Comparative proteomic analysis of CSF of neurocysticercosis patients and control subjects may find differentially expressed proteins. Methods Two-dimensional difference in gel electrophoresis (2D-DIGE) was used to investigate differentially expressed proteins in CSF of patients with neurocysticercosis by comparing the protein profile of CSF from neurocysticercosis patients with that from control subjects. The differentially expressed spots/proteins were recognized with matrix-assisted laser desorption/ionization-time of flight-time of flight (MALDI-TOF-TOF) mass spectrometry. Results Forty-four enzyme digested peptides were obtained from 4 neurocysticercotic patients. Twenty-three were identified through search of the NCBI protein database with Mascot software, showing 19 up-expressed and 4 down-expressed. Of these proteins, 26S proteosome related to ATP- and ubiquitin-dependent degradation of proteins and lipocalin type prostaglandin D synthase involved in PGD2-synthesis and extracellular transporter activities were up-expressed, while transferrin related to iron metabolism within the brain was down-expressed. Conclusions This study established the proteomic profile of pooled CSF from 4 patients with neurocysticercosis, suggesting the potential value of proteomic analysis for the study of candidate biomarkers involved in the diagnosis or pathogenesis of neurocysticercosis.

  11. Preliminary Design and Analysis of the GIFTS Instrument Pointing System

    Science.gov (United States)

    Zomkowski, Paul P.

    2003-01-01

    The Geosynchronous Imaging Fourier Transform Spectrometer (GIFTS) Instrument is the next generation spectrometer for remote sensing weather satellites. The GIFTS instrument will be used to perform scans of the Earth s atmosphere by assembling a series of field-of- views (FOV) into a larger pattern. Realization of this process is achieved by step scanning the instrument FOV in a contiguous fashion across any desired portion of the visible Earth. A 2.3 arc second pointing stability, with respect to the scanning instrument, must be maintained for the duration of the FOV scan. A star tracker producing attitude data at 100 Hz rate will be used by the autonomous pointing algorithm to precisely track target FOV s on the surface of the Earth. The main objective is to validate the pointing algorithm in the presence of spacecraft disturbances and determine acceptable disturbance limits from expected noise sources. Proof of concept validation of the pointing system algorithm is carried out with a full system simulation developed using Matlab Simulink. Models for the following components function within the full system simulation: inertial reference unit (IRU), attitude control system (ACS), reaction wheels, star tracker, and mirror controller. With the spacecraft orbital position and attitude maintained to within specified limits the pointing algorithm receives quaternion, ephemeris, and initialization data that are used to construct the required mirror pointing commands at a 100 Hz rate. This comprehensive simulation will also aid in obtaining a thorough understanding of spacecraft disturbances and other sources of pointing system errors. Parameter sensitivity studies and disturbance analysis will be used to obtain limits of operability for the GIFTS instrument. The culmination of this simulation development and analysis will be used to validate the specified performance requirements outlined for this instrument.

  12. Genetic analysis of population differentiation and adaptation in Leuciscus waleckii.

    Science.gov (United States)

    Chang, Yumei; Tang, Ran; Sun, Xiaowen; Liang, Liqun; Chen, Jinping; Huang, Jinfeng; Dou, Xinjie; Tao, Ran

    2013-12-01

    Demographic events and natural selection both influence animal phenotypic and genetic variation; exploring the effects of demography and selection on population divergence is of great significance in evolutionary biology. To uncover the causes behind the patterns of genetic differentiation and adaptation among six populations of Leuciscus waleckii from Dali Basin (two populations, alkaline vs. freshwater) and Amur Basin (four populations, freshwater rivers vs. alkaline lake), a set of 21 unlinked polymorphic microsatellite markers and two mitochondrial DNA sequences (Cytb and D-loop) were applied to examine whether populations from different environments or habitats have distinct genetic differentiation and whether alkalinity is the major factor that caused population divergence. Bayesian analysis and principal component analysis as well as haplotype network analysis showed that these populations are primarily divided into two groups, which are congruent with geographic separation but not inconsistent with the habitat environment (alkalinity). Using three different approaches, outlier detection indicated that one locus, HLJYL017, may be under directional selection and involved in local adaptation processes. Overall, this study suggested that demographic events and selection of local environmental conditions including of alkalinity are jointly responsible for population divergence. These findings constitute an important step towards the understanding of the genetic basis of differentiation and adaptation, as well as towards the conservation of L. waleckii.

  13. [Genealogical Analysis of the Use of Aegilops (Aegilops L.) Genetic Material in Wheat (Triticum Aestivum L.)].

    Science.gov (United States)

    Martynov, S P; Dobrotvorskaya, T V; Mitrofanova, O P

    2015-09-01

    A genealogical analysis of accessions in the global gene pool of the wheat database GRIS4.0 showed that the use of the genetic material of Aegilops in wheat breeding began about half a century ago. During this time, more than 1350 varieties and 9000 lines, the pedigree of which contains Aegilops species, were created in different regions of the world. The spatial and temporal dynamics of the distribution of wheat varieties containing the genetic material of Aegilops was investigated. Analysis of the data showed that most commercial varieties with a pedigree including Ae. tauschii and/or Ae. umbellulata were created and grown in North America. More than 70% of the varieties were produced with Ae. ventricosa, which is common in western and central Europe. A gradual increase in the proportion of varieties with Aegilops genetic material was recorded from 1962 to 2011. The percentage of varieties created with the involvement of Ae. umbellulata increased from 1-5% in the 1960s to 25-29% in the 2000s. Those created with Ae. tauschii increased from 0% to 14-18%, and those created with Ae. ventricosa increased from 1% to 34-37%. The increases in the number of these varieties indicates that the resistance genes from Aegilops species retain their effectiveness. Genealogical analysis of the varieties in which resistance genes from Aegilops were postulated revealed that varieties or lines that were sources of identified genes were often absent in the pedigree. This may be due to an incorrect pedigree record or errors in the identification of resistance genes by phytopathological testing and/or the use of molecular markers, or confusion in nurseries. Preliminary analysis of pedigrees provides an opportunity to reveal discrepancies between the pedigree and postulated genes.

  14. Preliminary analysis of the use of smartwatches for longitudinal health monitoring.

    Science.gov (United States)

    Jovanov, Emil

    2015-08-01

    New generations of smartwatches feature continuous measurement of physiological parameters, such as heart rate, galvanic skin resistance (GSR), and temperature. In this paper we present the results of preliminary analysis of the use of Basis Peak smartwatch for longitudinal health monitoring during a 4 month period. Physiological measurements during sleep are validated using Zephyr Bioharness 3 monitor and SOMNOscreen+ polysomnographic monitoring system from SOMNOmedics. Average duration of sequences with no missed data was 49.9 minutes, with maximum length of 17 hours, and they represent 88.88% of recording time. Average duration of the charging event was 221.9 min, and average time between charges was 54 hours, with maximum duration of the charging event of 16.3 hours. Preliminary results indicate that the physiological monitoring performance of existing smartwatches provides sufficient performance for longitudinal monitoring of health status and analysis of health and wellness trends.

  15. Relative risk analysis in regulating the use of radiation-emitting medical devices. A preliminary application

    Energy Technology Data Exchange (ETDEWEB)

    Jones, E.D.; Banks, W.W.; Altenbach, T.J.; Fischer, L.E. [Lawrence Livermore National Lab., CA (United States)

    1995-09-01

    This report describes a preliminary application of an analysis approach for assessing relative risks in the use of radiation- emitting medical devices. Results are presented on human-initiated actions and failure modes that are most likely to occur in the use of the Gamma Knife, a gamma irradiation therapy device. This effort represents an initial step in a US Nuclear Regulatory Commission (NRC) plan to evaluate the potential role of risk analysis in regulating the use of nuclear medical devices. For this preliminary application of risk assessment, the focus was to develop a basic process using existing techniques for identifying the most likely risk contributors and their relative importance. The approach taken developed relative risk rankings and profiles that incorporated the type and quality of data available and could present results in an easily understood form. This work was performed by the Lawrence Livermore National Laboratory for the NRC.

  16. A Preliminary Tsunami Vulnerability Analysis for Yenikapi Region in Istanbul

    Science.gov (United States)

    Ceren Cankaya, Zeynep; Suzen, Lutfi; Cevdet Yalciner, Ahmet; Kolat, Cagil; Aytore, Betul; Zaytsev, Andrey

    2015-04-01

    One of the main requirements during post disaster recovery operations is to maintain proper transportation and fluent communication at the disaster areas. Ports and harbors are the main transportation hubs which must work with proper performance at all times especially after the disasters. Resilience of coastal utilities after earthquakes and tsunamis have major importance for efficient and proper rescue and recovery operations soon after the disasters. Istanbul is a mega city with its various coastal utilities located at the north coast of the Sea of Marmara. At Yenikapi region of Istanbul, there are critical coastal utilities and vulnerable coastal structures and critical activities occur daily. Fishery ports, commercial ports, small craft harbors, passenger terminals of intercity maritime transportation, water front commercial and/or recreational structures are some of the examples of coastal utilization which are vulnerable against marine disasters. Therefore their vulnerability under tsunami or any other marine hazard to Yenikapi region of Istanbul is an important issue. In this study, a methodology of vulnerability analysis under tsunami attack is proposed with the applications to Yenikapi region. In the study, high resolution (1m) GIS database of Istanbul Metropolitan Municipality (IMM) is used and analyzed by using GIS implementation. The bathymetry and topography database and the vector dataset containing all buildings/structures/infrastructures in the study area are obtained for tsunami numerical modeling for the study area. GIS based tsunami vulnerability assessment is conducted by applying the Multi-criteria Decision Making Analysis (MCDA). The tsunami parameters from deterministically defined worst case scenarios are computed from the simulations using tsunami numerical model NAMI DANCE. The vulnerability parameters in the region due to two different classifications i) vulnerability of buildings/structures and ii) vulnerability of (human) evacuation

  17. Segregation Analysis on Genetic System of Quantitative Traits in Plants

    Institute of Scientific and Technical Information of China (English)

    Gai Junyi

    2006-01-01

    Based on the traditional polygene inheritance model of quantitative traits,the author suggests the major gene and polygene mixed inheritance model.The model was considered as a general one,while the pure major gene and pure polygene inheritance model was a specific case of the general model.Based on the proposed theory,the author established the segregation analysis procedure to study the genetic system of quantitative traits of plants.At present,this procedure can be used to evaluate the genetic effect of individual major genes (up to two to three major genes),the collective genetic effect of polygene,and their heritability value.This paper introduces how to establish the procedure,its main achievements,and its applications.An example is given to illustrate the steps,methods,and effectiveness of the procedure.

  18. Genetic diversity analysis in Piper species (Piperaceae) using RAPD markers.

    Science.gov (United States)

    Sen, Sandeep; Skaria, Reby; Abdul Muneer, P M

    2010-09-01

    The genetic diversity of eight species of Piper (Piperaceae) viz., P. nigrum, P. longum, P. betle, P. chaba, P. argyrophyllum, P. trichostachyon, P. galeatum, and P. hymenophyllum from Kerala state, India were analyzed by Random amplified polymorphic DNA (RAPD). Out of 22 10-mer RAPD primers screened, 11 were selected for comparative analysis of different species of Piper. High genetic variations were found among different Piper species studied. Among the total of 149 RAPD fragments amplified, 12 bands (8.05%) were found monomorphic in eight species. The remaining 137 fragments were found polymorphic (91.95%). Species-specific bands were found in all eight species studied. The average gene diversity or heterozygosity (H) was 0.33 across all the species, genetic distances ranged from 0.21 to 0.69. The results of this study will facilitate germplasm identification, management, and conservation.

  19. RAPD analysis of genetic relationships among Sphaeropsis sapinea isolates

    Institute of Scientific and Technical Information of China (English)

    WU Xiaoqin; XIONG Dabin; WANG Yu

    2007-01-01

    Genetic relationships were studied among 23 isolates of Sphaeropsis sapinea collected from China,the United States,England,South Africa and Chile by using a random amplification of a polymorphic DNA (RAPD) analytical method.One hundred and 35 DNA fragments were amplified with 12 random primers by a polymerase chain reaction PCR technique and 96.3% were polymorphic.The genetic dendrogram based on RAPD analysis showed that the S.sapinea isolates could be divided into three types.Isolate CWS41 from Chile was separated genetically as the first type that was different from other isolates and isolates F2 and J2 from China comprised the second group.The third RAPD group accommodated other isolates including the B morphotype isolate CWS43 from the United States.

  20. Seedling test and genetic analysis of white poplar hybrid clones

    Institute of Scientific and Technical Information of China (English)

    LI Bo; JIANG Xi-bing; ZHANG You-hui; ZHANG Zhi-yi; LI Shan-wen; AN Xin-min

    2008-01-01

    Cross breeding strategies are very efficient for gaining new and superior genotypes. Ninety-eight new white poplar hybrid clones produced from 12 cross combinations within the Section Leuce Duby were studied using genetic analysis and seedling tests. We exploited the wide variation that exists in this population and found that the differences among diameter at breast height (DBH), root collar diameter (RCD) and height (H) were statistically extremely significant. The repeatability of clones of these measured traits ranged from 0.947-0.967, which indicated that these Waits were strongly controlled by genetic factors. Based on multiple comparisons, a total of 25 clones showed better performance in growth than the conlrol cultivar. These 25 clones were from six different cross combinations, which can guarantee a larger genetic background for future new clone promotion projects. This study provides a simple overview on these clones and can guide us to carry out subsequent selection plans.

  1. Sammon mapping for preliminary analysis in Hyperspectral Imagery

    Directory of Open Access Journals (Sweden)

    Nicolae APOSTOLESCU

    2016-03-01

    Full Text Available The main goal of this paper is to present the implementation of the Sammon algorithm developed for finding N points in a lower m-dimensional subspace, where the original points are from a high n-dimensional space. This mapping is done so interpoints Euclidian distances in m-space correspond to the distances measured in the n-dimensional space. This method known as non-linear projection method or multidimensional scaling (MDS aims to preserve the global properties of points. The method is based on the idea of transforming the original, n-dimensional input space into a reduced, m-dimensional one, where mAnalysis (PCA may be applied as a pre-processing procedure for starting, in order to obtain the N points in the lower subspace. The algorithm was tested on hyperspectral data with spectra of various lengths. Depending of the size of the input data (number of points, the number of learning iterations and computational facilities available, Sammon mapping might be computationally expensive.

  2. A simplified procedure of linear regression in a preliminary analysis

    Directory of Open Access Journals (Sweden)

    Silvia Facchinetti

    2013-05-01

    Full Text Available The analysis of a statistical large data-set can be led by the study of a particularly interesting variable Y – regressed – and an explicative variable X, chosen among the remained variables, conjointly observed. The study gives a simplified procedure to obtain the functional link of the variables y=y(x by a partition of the data-set into m subsets, in which the observations are synthesized by location indices (mean or median of X and Y. Polynomial models for y(x of order r are considered to verify the characteristics of the given procedure, in particular we assume r= 1 and 2. The distributions of the parameter estimators are obtained by simulation, when the fitting is done for m= r + 1. Comparisons of the results, in terms of distribution and efficiency, are made with the results obtained by the ordinary least square methods. The study also gives some considerations on the consistency of the estimated parameters obtained by the given procedure.

  3. Preliminary Analysis of Slope Stability in Kuok and Surrounding Areas

    Directory of Open Access Journals (Sweden)

    Dewandra Bagus Eka Putra

    2016-12-01

    Full Text Available The level of slope influenced by the condition of the rocks beneath the surface. On high level of slopes, amount of surface runoff and water transport energy is also enlarged. This caused by greater gravity, in line with the surface tilt from the horizontal plane. In other words, topsoil eroded more and more. When the slope becomes twice as steep, then the amount of erosion per unit area be 2.0 - 2.5 times more. Kuok and surrounding area is the road access between the West Sumatra and Riau which plays an important role economies of both provinces. The purpose of this study is to map the locations that have fairly steep slopes and potential mode of landslides. Based on SRTM data obtained,  the roads in Kuok area has a minimum elevation of + 33 m and a maximum  + 217.329 m. Rugged road conditions with slope ranging from 24.08 ° to 44.68 ° causing this area having frequent landslides. The result of slope stability analysis in a slope near the Water Power Plant Koto Panjang, indicated that mode of active failure is toppling failure or rock fall and the potential zone of failure is in the center part of the slope.

  4. Social network analysis in identifying influential webloggers: A preliminary study

    Science.gov (United States)

    Hasmuni, Noraini; Sulaiman, Nor Intan Saniah; Zaibidi, Nerda Zura

    2014-12-01

    In recent years, second generation of internet-based services such as weblog has become an effective communication tool to publish information on the Web. Weblogs have unique characteristics that deserve users' attention. Some of webloggers have seen weblogs as appropriate medium to initiate and expand business. These webloggers or also known as direct profit-oriented webloggers (DPOWs) communicate and share knowledge with each other through social interaction. However, survivability is the main issue among DPOW. Frequent communication with influential webloggers is one of the way to keep survive as DPOW. This paper aims to understand the network structure and identify influential webloggers within the network. Proper understanding of the network structure can assist us in knowing how the information is exchanged among members and enhance survivability among DPOW. 30 DPOW were involved in this study. Degree centrality and betweenness centrality measurement in Social Network Analysis (SNA) were used to examine the strength relation and identify influential webloggers within the network. Thus, webloggers with the highest value of these measurements are considered as the most influential webloggers in the network.

  5. SLUDGE TREATMENT PROJECT ENGINEERED CONTAINER RETRIEVAL AND TRANSFER SYSTEM PRELIMINARY DESIGN HAZARD ANALYSIS SUPPLEMENT 1

    Energy Technology Data Exchange (ETDEWEB)

    FRANZ GR; MEICHLE RH

    2011-07-18

    This 'What/If' Hazards Analysis addresses hazards affecting the Sludge Treatment Project Engineered Container Retrieval and Transfer System (ECRTS) NPH and external events at the preliminary design stage. In addition, the hazards of the operation sequence steps for the mechanical handling operations in preparation of Sludge Transport and Storage Container (STSC), disconnect STSC and prepare STSC and Sludge Transport System (STS) for shipping are addressed.

  6. Preliminary Failure Modes and Effects Analysis of the US Massive Gas Injection Disruption Mitigation System Design

    Energy Technology Data Exchange (ETDEWEB)

    Lee C. Cadwallader

    2013-10-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a candidate design for the ITER Disruption Mitigation System. This candidate is the Massive Gas Injection System that provides machine protection in a plasma disruption event. The FMEA was quantified with “generic” component failure rate data as well as some data calculated from operating facilities, and the failure events were ranked for their criticality to system operation.

  7. Preliminary Failure Modes and Effects Analysis of the US DCLL Test Blanket Module

    Energy Technology Data Exchange (ETDEWEB)

    Lee C. Cadwallader

    2007-08-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a small tritium-breeding test blanket module design for the International Thermonuclear Experimental Reactor. The FMEA was quantified with “generic” component failure rate data, and the failure events are binned into postulated initiating event families and frequency categories for safety assessment. An appendix to this report contains repair time data to support an occupational radiation exposure assessment for test blanket module maintenance.

  8. Preliminary Failure Modes and Effects Analysis of the US DCLL Test Blanket Module

    Energy Technology Data Exchange (ETDEWEB)

    Lee C. Cadwallader

    2010-06-01

    This report presents the results of a preliminary failure modes and effects analysis (FMEA) of a small tritium-breeding test blanket module design for the International Thermonuclear Experimental Reactor. The FMEA was quantified with “generic” component failure rate data, and the failure events are binned into postulated initiating event families and frequency categories for safety assessment. An appendix to this report contains repair time data to support an occupational radiation exposure assessment for test blanket module maintenance.

  9. Analysis of genetic diversity in Bolivian llama populations using microsatellites.

    Science.gov (United States)

    Barreta, J; Gutiérrez-Gil, B; Iñiguez, V; Romero, F; Saavedra, V; Chiri, R; Rodríguez, T; Arranz, J J

    2013-08-01

    South American camelids (SACs) have a major role in the maintenance and potential future of rural Andean human populations. More than 60% of the 3.7 million llamas living worldwide are found in Bolivia. Due to the lack of studies focusing on genetic diversity in Bolivian llamas, this analysis investigates both the genetic diversity and structure of 12 regional groups of llamas that span the greater part of the range of distribution for this species in Bolivia. The analysis of 42 microsatellite markers in the considered regional groups showed that, in general, there were high levels of polymorphism (a total of 506 detected alleles; average PIC across per marker: 0.66), which are comparable with those reported for other populations of domestic SACs. The estimated diversity parameters indicated that there was high intrapopulational genetic variation (average number of alleles and average expected heterozygosity per marker: 12.04 and 0.68, respectively) and weak genetic differentiation among populations (FST range: 0.003-0.052). In agreement with these estimates, Bolivian llamas showed a weak genetic structure and an intense gene flow between all the studied regional groups, which is due to the exchange of reproductive males between the different flocks. Interestingly, the groups for which the largest pairwise FST estimates were observed, Sud Lípez and Nor Lípez, showed a certain level of genetic differentiation that is probably due to the pattern of geographic isolation and limited communication infrastructures of these southern localities. Overall, the population parameters reported here may serve as a reference when establishing conservation policies that address Bolivian llama populations.

  10. Repeated measurement sampling in genetic association analysis with genotyping errors.

    Science.gov (United States)

    Lai, Renzhen; Zhang, Hong; Yang, Yaning

    2007-02-01

    Genotype misclassification occurs frequently in human genetic association studies. When cases and controls are subject to the same misclassification model, Pearson's chi-square test has the correct type I error but may lose power. Most current methods adjusting for genotyping errors assume that the misclassification model is known a priori or can be assessed by a gold standard instrument. But in practical applications, the misclassification probabilities may not be completely known or the gold standard method can be too costly to be available. The repeated measurement design provides an alternative approach for identifying misclassification probabilities. With this design, a proportion of the subjects are measured repeatedly (five or more repeats) for the genotypes when the error model is completely unknown. We investigate the applications of the repeated measurement method in genetic association analysis. Cost-effectiveness study shows that if the phenotyping-to-genotyping cost ratio or the misclassification rates are relatively large, the repeat sampling can gain power over the regular case-control design. We also show that the power gain is not sensitive to the genetic model, genetic relative risk and the population high-risk allele frequency, all of which are typically important ingredients in association studies. An important implication of this result is that whatever the genetic factors are, the repeated measurement method can be applied if the genotyping errors must be accounted for or the phenotyping cost is high.

  11. PRELIMINARY PHYTOCHEMICAL ANALYSIS AND ACUTE ORAL TOXICITY STUDY OF CLITORIA TERNATEA LINN. ROOTS IN ALBINO MICE

    Directory of Open Access Journals (Sweden)

    Deka Manalisha

    2011-12-01

    Full Text Available Clitoria ternatea has been using since the ancient times for its medicinal values. Almost all the parts of the plant have medicinal property. The root of the plant is reported to have anti diarrheal, Anti histamic, cholinergic activity etc. Traditionally the root has been using for the treatment of many diseases like leucorrhoea, diarrhea, urinary problems, diuretic, impotency, stomach trouble etc. The present study was designed to investigate the preliminary phytochemical analysis and acute oral toxicity of the root of the plant. The shed dried materials were grinded and used in the study. The preliminary phytochemical analysis was done by following standard protocols. For acute oral toxicity study, methanolic extract of the root was used. The extract was prepared by standard protocol. The preliminary phytochemical analysis showed the presence of proteins, carbohydrates, glycosides, resins, saponin, flavonoid, alkaloids, steroids and phenol. The acute oral toxicity study showed no mortality up to a dose of 3000 mg per kg body weight. The presence of plant chemicals revealed the medicinal values and the non toxic property of the plant indicated the value of the plant as medicine. Thus we can conclude that, the root of the plant can be used as a safe drug against many diseases.

  12. PRELIMINARY PHYTOCHEMICAL ANALYSIS AND ACUTE ORAL TOXICITY STUDY OF MUCUNA PRURIENS LINN. IN ALBINO MICE

    Directory of Open Access Journals (Sweden)

    Deka Manalisha

    2012-02-01

    Full Text Available Mucuna Pruriens Linn. is an annual, climbing shrub which has an important place among aphrodisiac herbs in India since the ancient times. The plant has been using traditionally for many medicinal purposes such as Infertility, Parkinson’s disease, Loss of libido, Antioxidant, Anti venom, Anti microbial etc. The present study was carried out to investigate the preliminary phytochemical analysis and acute oral toxicity of the seeds of M.pruriens on albino mice. Matured seeds of M.pruriens were dried in shed and grinded in a mechanical grinder. The preliminary phytochemical analysis was done by following standard protocols. For acute oral toxicity study, methanolic extract of the seeds were used. The extract was prepared in a Soxlet apparatus. The preliminary phytochemical analysis showed the presence of protein, carbohydrates, glycosides, alkaloids, steroids, flavonoids, phenols and tannins. The acute oral toxicity study showed no mortality up to a dose of 4000 mg per kg body weight. The presence of plant chemicals revealed the medicinal values and the non toxic property of the plant indicated the value of the plant as medicine. Thus, we can conclude that, the seed of the plant can be used as a safe drug against many diseases.

  13. [Primary failure of eruption (PFE). Clinical and molecular genetics analysis].

    Science.gov (United States)

    Stellzig-Eisenhauer, Angelika; Decker, Eva; Meyer-Marcotty, Philipp; Rau, Christiane; Fiebig, Britta S; Kress, Wolfram; Saar, Kathrin; Rüschendorf, Franz; Hubner, Norbert; Grimm, Tiemo; Witt, Emil; Weber, Bernhard H F

    2013-09-01

    The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown. Four families were studied in whom at least two members were affected by non-syndromic PFE as part of a clinical and molecular genetics study. Radiological diagnostics (OPTs) were carried out in all patients and their unaffected relatives (control group). The genetic analysis included a genomewide linkage analysis followed by direct DNA sequencing of positional candidate genes. Starting from the index patients, we were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominant mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543 + 1G>A; c.463G>T). Unaffected persons exhibited no mutations. Knowledge of the genetic causes of non-syndromic PFE can now be used for the differential diagnosis of eruption failure. It permits affected family members to be identified early and may lead to new treatment possibilities in the long term. The genetically-verified diagnosis of "primary failure of eruption" can protect patients and orthodontists from years of futile treatment, because orthodontic treatment alone does not lead to success. Moreover, it has a negative influence on unaffected teeth and areas of the jaw. © EDP Sciences, SFODF, 2013.

  14. Preliminary CFD Analysis for HVAC System Design of a Containment Building

    Energy Technology Data Exchange (ETDEWEB)

    Son, Sung Man; Choi, Choengryul [ELSOLTEC, Yongin (Korea, Republic of); Choo, Jae Ho; Hong, Moonpyo; Kim, Hyungseok [KEPCO Engineering and Construction, Gimcheon (Korea, Republic of)

    2016-10-15

    HVAC (Heating, Ventilation, Air Conditioning) system has been mainly designed based on overall heat balance and averaging concepts, which is simple and useful for designing overall system. However, such a method has the disadvantage that cannot predict the local flow and temperature distributions in a containment building. In this study, a CFD (Computational Fluid Dynamics) preliminary analysis is carried out to obtain detailed flow and temperature distributions in a containment building and to ensure that such information can be obtained via CFD analysis. This approach can be useful for hydrogen analysis in an accident related to hydrogen released into a containment building. In this study, CFD preliminary analysis has been performed to obtain the detailed information of the reactor containment building by using the CFD analysis techniques and to ensure that such information can be obtained via CFD analysis. We confirmed that CFD analysis can offer enough detailed information about flow patterns and temperature field and that CFD technique is a useful tool for HVAC design of nuclear power plants.

  15. Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

    DEFF Research Database (Denmark)

    Mitra, Anita V; Bancroft, Elizabeth K; Barbachano, Yolanda;

    2011-01-01

    Study Type - Diagnostic (validating cohort)
Level of Evidence 1b OBJECTIVES: To evaluate the role of targeted prostate cancer screening in men with BRCA1 or BRCA2 mutations, an international study, IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening...... in BRCA1/2 mutation carriers and controls), was established. This is the first multicentre screening study targeted at men with a known genetic predisposition to prostate cancer. A preliminary analysis of the data is reported. MATERIALS AND METHODS: Men aged 40-69 years from families with BRCA1 or BRCA2...... mutations were offered annual prostate specific antigen (PSA) testing, and those with PSA >3 ng/mL, were offered a prostate biopsy. Controls were men age-matched (± 5 years) who were negative for the familial mutation. RESULTS: In total, 300 men were recruited (205 mutation carriers; 89 BRCA1, 116 BRCA2...

  16. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

    Directory of Open Access Journals (Sweden)

    Serena Oliveri

    2016-01-01

    Full Text Available Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT. Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67% had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes.

  17. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

    Science.gov (United States)

    Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara

    2016-01-01

    Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT). Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67%) had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes. PMID:28105428

  18. GC-MS analysis, preliminary phytochemical screening, physicochemical analysis and anti-diabetic activity of ethanol extract of Jasminum cuspidatum leaves

    National Research Council Canada - National Science Library

    Singumsetty Vinay; Shaik Karimulla; Devarajan Saravanan

    2014-01-01

    The purpose of the present study was investigating the GC-MS analysis, preliminary phytochemical screening, physicochemical analysis and anti-diabetic activity of ethanol extract of the leaves of Jasminum cuspidatum...

  19. ANSI/ASHRAE/IESNA Standard 90.1-2010 Preliminary Determination Quantitative Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Halverson, Mark A.; Liu, Bing; Rosenberg, Michael I.

    2010-11-01

    The United States (U.S.) Department of Energy (DOE) conducted a preliminary quantitative analysis to assess whether buildings constructed according to the requirements of the American National Standards Institute (ANSI)/American Society of Heating, Refrigerating and Air-Conditioning Engineers (ASHRAE)/Illuminating Engineering Society of North America (IESNA) Standard 90.1-2010 (ASHRAE Standard 90.1-2010, Standard 90.1-2010, or 2010 edition) would result in energy savings compared with buildings constructed to ANSI/ASHRAE/IESNA Standard 90.1-2007(ASHRAE Standard 90.1-2007, Standard 90.1-2007, or 2007 edition). The preliminary analysis considered each of the 109 addenda to ASHRAE Standard 90.1-2007 that were included in ASHRAE Standard 90.1-2010. All 109 addenda processed by ASHRAE in the creation of Standard 90.1-2010 from Standard 90.1-2007 were reviewed by DOE, and their combined impact on a suite of 16 building prototype models in 15 ASHRAE climate zones was considered. Most addenda were deemed to have little quantifiable impact on building efficiency for the purpose of DOE’s preliminary determination. However, out of the 109 addenda, 34 were preliminarily determined to have measureable and quantifiable impact.

  20. The S-leut anthropometric traits: genetic analysis.

    Science.gov (United States)

    Paganini-Hill, A; Martin, A O; Spence, M A

    1981-05-01

    Genetic analyses were conducted on 51 anthropometric measurements and on four factors derived from them by factor analysis. These variables were obtained on 784 members of a religious isolate, the S-leut. Correlations were computed between relatives, and heritabilities were estimates using information on extended families. Longitudinal measurements generally exhibited the highest heritabilities. The test for fit of a major gene model was significant for 13 of the 55 variables, the circumferential and breadth measurements giving the strongest evidence for major gene control. In another approach to establishment of genetic control, linkage analysis was performed between the anthropometric variables and blood group and serum protein polymorphisms. Several traits showed some evidence for linkage but none achieved statistical significance.

  1. Genetic Analysis of Haploids from Industrial Strains of Baker's Yeast.

    Science.gov (United States)

    Oda, Y; Ouchi, K

    1989-07-01

    Strains of baker's yeast conventionally used by the baking industry in Japan were tested for the ability to sporulate and produce viable haploid spores. Three isolates which possessed the properties of baker's yeasts were obtained from single spores. Each strain was a haploid, and one of these strains, YOY34, was characterized. YOY34 fermented maltose and sucrose, but did not utilize galactose, unlike its parental strain. Genetic analysis showed that YOY34 carried two MAL genes, one functional and one cryptic; two SUC genes; and one defective gal gene. The genotype of YOY34 was identified as MATalpha MAL1 MAL3g SUC2 SUC4 gall. The MAL1 gene from this haploid was constitutively expressed, was dominant over other wild-type MAL tester genes, and gave a weak sucrose fermentation. YOY34 was suitable for both bakery products, like conventional baker's yeasts, and for genetic analysis, like laboratory strains.

  2. Preliminary phytochemical analysis and DPPH free radical scavenging activity of Trewia nudiflora Linn. roots and leaves.

    Science.gov (United States)

    Balakrishnan, N; Srivastava, Mayank; Tiwari, Pallavi

    2013-11-01

    Oxidative stress is one of the major causative factors of many chronic and degenerative diseases. Plants have been used in traditional medicine in different parts of world for thousands of years and continue to provide new remedies for human kind. The present study was to investigate the preliminary phytochemical analysis of various extracts of roots and leaves of Trewia nudiflora (Euphorbiaceae) and antioxidant activity by 1,1,diphenyl-2-picryl hydrazyl (DPPH) radical scavenging method. The preliminary phytochemical screening showed the presence of several phytochemicals including alkaloids, glycosides, flavonoids, steroids, phenolic compounds and tannins. The ethanol and aqueous extracts of roots and leaves of Trewia nudiflora showed significant antioxidant activity compared to standard drug ascorbic acid.

  3. Describing the genetic architecture of epilepsy through heritability analysis.

    Science.gov (United States)

    Speed, Doug; O'Brien, Terence J; Palotie, Aarno; Shkura, Kirill; Marson, Anthony G; Balding, David J; Johnson, Michael R

    2014-10-01

    Epilepsy is a disease with substantial missing heritability; despite its high genetic component, genetic association studies have had limited success detecting common variants which influence susceptibility. In this paper, we reassess the role of common variants on epilepsy using extensions of heritability analysis. Our data set consists of 1258 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, with genotypes recorded for over 4 million common single nucleotide polymorphisms. Firstly, we show that on the liability scale, common variants collectively explain at least 26% (standard deviation 5%) of phenotypic variation for all epilepsy and 27% (standard deviation 5%) for focal epilepsy. Secondly we provide a new method for estimating the number of causal variants for complex traits; when applied to epilepsy, our most optimistic estimate suggests that at least 400 variants influence disease susceptibility, with potentially many thousands. Thirdly, we use bivariate analysis to assess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differences (P = 0.004) and significant similarities (P = 0.01) between the two subtypes, indicating that although the clinical definition of focal epilepsy does identify a genetically distinct epilepsy subtype, there is also scope to improve the classification of epilepsy by incorporating genotypic information. Lastly, we investigate the potential value in using genetic data to diagnose epilepsy following a single epileptic seizure; we find that a prediction model explaining 10% of phenotypic variation could have clinical utility for deciding which single-seizure individuals are likely to benefit from immediate anti-epileptic drug therapy.

  4. CONSTRUCTION OF THE CHINESE LEARNERS' PARALLEL CORPUS OF JAPANESE AND ITS PRELIMINARY ANALYSIS

    Directory of Open Access Journals (Sweden)

    Masatake Dantsuji

    2004-01-01

    Full Text Available This study aims to introduce the project to construct the Chinese learners' corpus (LC of Japanese at Dalian University of Technology (DUT, and detail the LC construction, development of DUT Corpus Linguistics Tools, and contribution to the education of Japanese as a second language. The outstanding characteristic of the LC is its parallel form with learners' Japanese texts and their Chinese translation, which enables us to make comprehensive analysis of the influence of Chinese (L1 to Japanese (L2. We have made a preliminary analysis of the errors contained.

  5. Preliminary Design and Analysis of the ARES Atmospheric Flight Vehicle Thermal Control System

    Science.gov (United States)

    Gasbarre, J. F.; Dillman, R. A.

    2003-01-01

    The Aerial Regional-scale Environmental Survey (ARES) is a proposed 2007 Mars Scout Mission that will be the first mission to deploy an atmospheric flight vehicle (AFV) on another planet. This paper will describe the preliminary design and analysis of the AFV thermal control system for its flight through the Martian atmosphere and also present other analyses broadening the scope of that design to include other phases of the ARES mission. Initial analyses are discussed and results of trade studies are presented which detail the design process for AFV thermal control. Finally, results of the most recent AFV thermal analysis are shown and the plans for future work are discussed.

  6. Genetic mapping of complex discrete human diseases by discriminant analysis

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The objective of the present study is to propose and evaluate a novel multivariate approach for genetic mapping of complex categorical diseases. This approach results from an application of standard stepwise discriminant analysis to detect linkage based on the differential marker identity-by-descent (IBD) distributions among the different groups of sib pairs. Two major advantages of this method are that it allows for simultaneously testing all markers, together with other genetic and environmental factors in a single multivariate setting and it avoids explicitly modeling the complex relationship between the affection status of sib pairs and the underlying genetic determinants. The efficiency and properties of the method are demonstrated via simulations. The proposed multivariate approach has successfully located the true position(s) under various genetic scenarios. The more important finding is that using highly densely spaced markers (1~2 cM) leads to only a marginal loss of statistical efficiency of the proposed methods in terms of gene localization and statistical power. These results have well established its utility and advantages as a fine-mapping tool. A unique property of the proposed method is the ability to map multiple linked trait loci to their precise positions due to its sequential nature, as demonstrated via simulations.

  7. Genetic analysis of HIV-1 subtypes in Nairobi, Kenya.

    Directory of Open Access Journals (Sweden)

    Suhail Khoja

    Full Text Available BACKGROUND: Genetic analysis of a viral infection helps in following its spread in a given population, in tracking the routes of infection and, where applicable, in vaccine design. Additionally, sequence analysis of the viral genome provides information about patterns of genetic divergence that may have occurred during viral evolution. OBJECTIVE: In this study we have analyzed the subtypes of Human Immunodeficiency Virus -1 (HIV-1 circulating in a diverse sample population of Nairobi, Kenya. METHODOLOGY: 69 blood samples were collected from a diverse subject population attending the Aga Khan University Hospital in Nairobi, Kenya. Total DNA was extracted from peripheral blood mononuclear cells (PBMCs, and used in a Polymerase Chain Reaction (PCR to amplify the HIV gag gene. The PCR amplimers were partially sequenced, and alignment and phylogenetic analysis of these sequences was performed using the Los Alamos HIV Database. RESULTS: Blood samples from 69 HIV-1 infected subjects from varying ethnic backgrounds were analyzed. Sequence alignment and phylogenetic analysis showed 39 isolates to be subtype A, 13 subtype D, 7 subtype C, 3 subtype AD and CRF01_AE, 2 subtype G and 1 subtype AC and 1 AG. Deeper phylogenetic analysis revealed HIV subtype A sequences to be highly divergent as compared to subtypes D and C. CONCLUSION: Our analysis indicates that HIV-1 subtypes in the Nairobi province of Kenya are dominated by a genetically diverse clade A. Additionally, the prevalence of highly divergent, complex subtypes, intersubtypes, and the recombinant forms indicates viral mixing in Kenyan population, possibly as a result of dual infections.

  8. Multidisciplinary High-Fidelity Analysis and Optimization of Aerospace Vehicles. Part 2; Preliminary Results

    Science.gov (United States)

    Walsh, J. L.; Weston, R. P.; Samareh, J. A.; Mason, B. H.; Green, L. L.; Biedron, R. T.

    2000-01-01

    An objective of the High Performance Computing and Communication Program at the NASA Langley Research Center is to demonstrate multidisciplinary shape and sizing optimization of a complete aerospace vehicle configuration by using high-fidelity finite-element structural analysis and computational fluid dynamics aerodynamic analysis in a distributed, heterogeneous computing environment that includes high performance parallel computing. A software system has been designed and implemented to integrate a set of existing discipline analysis codes, some of them computationally intensive, into a distributed computational environment for the design of a high-speed civil transport configuration. The paper describes both the preliminary results from implementing and validating the multidisciplinary analysis and the results from an aerodynamic optimization. The discipline codes are integrated by using the Java programming language and a Common Object Request Broker Architecture compliant software product. A companion paper describes the formulation of the multidisciplinary analysis and optimization system.

  9. Improved Runtime Analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2013-01-01

    A runtime analysis of the Simple Genetic Algorithm (SGA) for the OneMax problem has recently been presented proving that the algorithm requires exponential time with overwhelming probability. This paper presents an improved analysis which overcomes some limitations of our previous one. Firstly...... improvement towards the reusability of the techniques in future systematic analyses of GAs. Finally, we consider the more natural SGA using selection with replacement rather than without replacement although the results hold for both algorithmic versions. Experiments are presented to explore the limits...

  10. Improved time complexity analysis of the Simple Genetic Algorithm

    DEFF Research Database (Denmark)

    Oliveto, Pietro S.; Witt, Carsten

    2015-01-01

    A runtime analysis of the Simple Genetic Algorithm (SGA) for the OneMax problem has recently been presented proving that the algorithm with population size μ≤n1/8−ε requires exponential time with overwhelming probability. This paper presents an improved analysis which overcomes some limitations...... this is a major improvement towards the reusability of the techniques in future systematic analyses of GAs. Finally, we consider the more natural SGA using selection with replacement rather than without replacement although the results hold for both algorithmic versions. Experiments are presented to explore...

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

    Directory of Open Access Journals (Sweden)

    del Giacco Stefano

    2011-07-01

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

  12. DMPD: The Toll-like receptors: analysis by forward genetic methods. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 16001129 The Toll-like receptors: analysis by forward genetic methods. Beutler B. I...mmunogenetics. 2005 Jul;57(6):385-92. (.png) (.svg) (.html) (.csml) Show The Toll-like receptors: analysis b...y forward genetic methods. PubmedID 16001129 Title The Toll-like receptors: analysis by forward genetic meth

  13. Molecular and Genetic Analysis of Hormone-Regulated Differential Cell Elongation in Arabidopsis

    Energy Technology Data Exchange (ETDEWEB)

    Ecker, Joseph R.

    2002-12-03

    The authors have utilized the response of Arabidopsis seedlings to the plant hormone ethylene to identify new genes involved in the regulation of ethylene biosynthesis, perception, signal transduction and differential cell growth. In building a genetic framework for the action of these genes, they developed a molecular model that has facilitated the understanding of the molecular requirements of ethylene for cell elongation processes. The ethylene response pathway in Arabidopsis appears to be primarily linear and is defined by the genes: ETR1, ETR2, ERS1, ERS2, EIN4, CTR1, EIN2, EIN3, EIN5 EIN6, and EIN. Downstream branches identified by the HLS1, EIR1, and AUX1 genes involve interactions with other hormonal (auxin) signals in the process of differential cell elongation in the hypocotyl hook. Cloning and characterization of HLS1 and three HLS1-LIKE genes in the laboratory has been supported under this award. HLS1 is required for differential elongation of cells in the hypocotyl and may act in the establishment of hormone gradients. Also during the award period, they have identified and begun preliminary characterization of two genes that genetically act upstream of the ethylene receptors. ETO1 and RAN1 encode negative regulators of ethylene biosynthesis and signaling respectively. Progress on the analysis of these genes along with HOOKLESS1 is described.

  14. Waste Feed Delivery System Phase 1 Preliminary RAM Analysis [SEC 1 and 2

    Energy Technology Data Exchange (ETDEWEB)

    DYKES, A.A.

    2000-10-11

    This report presents the updated results of the preliminary reliability, availability, and maintainability (RAM) analysis of selected waste feed delivery (WFD) operations to be performed by the Tank Farm Contractor (TFC) during Phase I activities in support of the Waste Treatment and Immobilization Plant (WTP). For planning purposes, waste feed tanks are being divided into five classes in accordance with the type of waste in each tank and the activities required to retrieve, qualify, and transfer waste feed. This report reflects the baseline design and operating concept, as of the beginning of Fiscal Year 2000, for the delivery of feed from three of these classes, represented by source tanks 241-AN-102, 241-AZ-101 and 241-AN-105. The preliminary RAM analysis quantifies the potential schedule delay associated with operations and maintenance (OBM) field activities needed to accomplish these operations. The RAM analysis is preliminary because the system design, process definition, and activity planning are in a state of evolution. The results are being used to support the continuing development of an O&M Concept tailored to the unique requirements of the WFD Program, which is being documented in various volumes of the Waste Feed Delivery Technical Basis (Carlson. 1999, Rasmussen 1999, and Orme 2000). The waste feed provided to the WTP must: (1) meet limits for chemical and radioactive constituents based on pre-established compositional envelopes (i.e., feed quality); (2) be in acceptable quantities within a prescribed sequence to meet feed quantities; and (3) meet schedule requirements (i.e., feed timing). In the absence of new criteria related to acceptable schedule performance due to the termination of the TWRS Privatization Contract, the original criteria from the Tank Waste Remediation System (77443s) Privatization Contract (DOE 1998) will continue to be used for this analysis.

  15. Parametric analysis of architectural volumes through genetic algorithms

    Directory of Open Access Journals (Sweden)

    Pedro Salcedo Lagos

    2015-03-01

    Full Text Available During the last time, architectural design has developed partly due to new digital design techniques, which allow the generation of geometries based on the definition of initial parameters and the programming of formal relationship between them. Design processes based on these technologies allow to create shapes with the capacity to modify and adapt to multiple constrains or specific evaluation criteria, which raises the problem of identifying the best architectural solution. Several experiences have set up the utilization of genetic algorithm to face this problem. This paper demonstrates the possibility to implement a parametric analysis of architectural volumes with genetic algorithm, in order to combine functional, environmental and structural requirements, with an effective search method to select a variety of proper solutions through digital technologies.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented...... concentrates on longevity studies. The framework presented allows to combine models based on continuous time with models based on discrete time in a joint analysis. The continuous time models are approximations of the frailty model in which the hazard function will be assumed to be piece-wise constant....... The discrete time models used are multivariate variants of the discrete relative risk models. These models allow for regular parametric likelihood-based inference by exploring a coincidence of their likelihood functions and the likelihood functions of suitably defined multivariate generalized linear mixed...

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented...... concentrates on longevity studies. The framework presented allows to combine models based on continuous time with models based on discrete time in a joint analysis. The continuous time models are approximations of the frailty model in which the hazard function will be assumed to be piece-wise constant....... The discrete time models used are multivariate variants of the discrete relative risk models. These models allow for regular parametric likelihood-based inference by exploring a coincidence of their likelihood functions and the likelihood functions of suitably defined multivariate generalized linear mixed...

  18. Genetic Analysis on Bent Characters of Cucumber Fruit

    Institute of Scientific and Technical Information of China (English)

    ZHANG Peng; QIN Zhiwei; WANG Lili; ZHOU Xiuyan

    2011-01-01

    Bent varieties and straight varieties were made as parents for the genetic analysis to investigate cucumber bending genetic mechanism. The results showed that the bent characters of the cucumber fruit (BCCF) were quantitative inheritance controlled by multiple genes and major genes. The additive effect played the main role and the dominance effect played the lesser role. Compared with the additive environmental variance, the dominant-environmental variance was more important and the cucumber fruit was more easily affected by the additive effect. The broad heritability and the narrow heritability of BCCF were both higher. The varieties of D0455 and D07299 could be used as parents which were benefit for improving the straight characters of the cucumber fruit

  19. Morphological characterization and genetic analysis of Drechslera teres isolates

    Directory of Open Access Journals (Sweden)

    Frazzon A.P.G.

    2002-01-01

    Full Text Available Net blotch, caused by the phytopathogen Drechslera teres, is a common disease of barley (Hordeum vulgare L and is responsible for large economic losses in some barley growing areas. In this study the morphology and genetic variability of eight D. teres isolates from different regions of the Brazilian state of Rio Grande do Sul were investigated. Colony morphology was studied on potato-dextrose-agar (PDA and genetic variability investigated using the random amplified polymorphic-DNA (RAPD technique. 27 commercially available primers were tested of which 16 were selected for use in polymorphic analysis due to their good resolution and reproducibility. Similarity coefficients were used to construct dendrograms based on colony morphology and RAPD data showing the relationship between the eight isolates studied. Colony morphology showed variability between the isolates while RAPD assays showed high similarity coefficients, but grouping of the isolates according to the geographic origins of the seeds from which they were isolated was not possible.

  20. DNA degradation and genetic analysis of empty puparia: genetic identification limits in forensic entomology.

    Science.gov (United States)

    Mazzanti, Morena; Alessandrini, Federica; Tagliabracci, Adriano; Wells, Jeffrey D; Campobasso, Carlo P

    2010-02-25

    Puparial cases are common remnants of necrophagous flies in crime investigations. They usually represent the longest developmental time and, therefore, they can be very useful for the estimation of the post-mortem interval (PMI). However, before any PMI estimate, it is crucial to identify the species of fly eclosed from each puparium associated with the corpse. Morphological characteristics of the puparium are often distinctive enough to permit a species identification. But, even an accurate morphological analysis of empty puparia cannot discriminate among different species of closely related flies. Furthermore, morphological identification may be impossible if the fly puparia are poorly preserved or in fragments. This study explores the applicability of biomolecular techniques on empty puparia and their fragments for identification purposes. A total of 63 empty puparia of necrophagous Diptera resulting from forensic casework were examined. Samples were divided into three groups according to size, type and time of eclosion in order to verify whether the physical characteristics and puparia weathering can influence the amount of DNA extraction. The results suggest that a reliable genetic identification of forensically important flies may also be performed from empty puparia and/or their fragments. However, DNA degradation can deeply compromise the genetic analysis since the older the fly puparia, the smaller are the amplified fragments.

  1. Preliminary analysis of Alvito-Odivelas reservoir system operation under climate change scenarios

    OpenAIRE

    2008-01-01

    The present study provides a preliminary analysis of the impact of climate change on a water resources system of Alentejo region in the South of Portugal. Regional climate model HadRM3P forced by the Global Circulation Model HadAM3P A2 of the Hadley Centre, is used to derive temperature and precipitation data, which in turn is used as input to hydrological model (SHETRAN) for simulation of future streamflow. Dynamic programming based models are used for operation of reservoir system in order ...

  2. Stock assessment of Haliporoides triarthrus (Fam. Solenoceridae) off Mozambique: a preliminary analysis

    OpenAIRE

    Torstensen, E.; Pacule, H.

    1992-01-01

    The pink shrimp, Haliporoides triarthrus, is an important species in the deep-water shrimp fishery in Mozambique. Total catches are in the range of 1,500 to 2,700 tons, with the pink shrimp accounting for 70-90%. Estimates of growth parameters and of natural mortality are used for a preliminary assessment of the fishery, based on length-structured virtual population analysis and yield-per-recruit analyses. With an arbitrarily chosen terminal fishing mortality F, the results indicate a situati...

  3. Preliminary Analysis of Liquid Metal MHD Pressure Drop in the Blanket for the FDS

    Institute of Scientific and Technical Information of China (English)

    王红艳; 吴宜灿; 何晓雄

    2002-01-01

    Preliminary analysis and calculation of liquid metal Li17Pb83 magnetohydrodynamic (MHD) pressure drop in the blanket for the FDS have been presented to evaluate the significance of MHD effects on the thermal-hydraulic design of the blanket. To decrease the liquid metal MHD pressure drop, Al2O3 is applied as an electronically insulated coating onto the inner surface of the ducts. The requirement for the insulated coating to reduce the additional leakage pressure drop caused by coating imperfections has been analyzed. Finally, the total liquid metal MHD pressure drop and magnetic pump power in the FDS blanket have been given.

  4. Preliminary performance analysis of a transverse flow spectrally selective two-slab packed bed volumetric receiver

    CSIR Research Space (South Africa)

    Roos, TH

    2016-05-01

    Full Text Available stream_source_info Roos_2016_ABSTRACT.pdf.txt stream_content_type text/plain stream_size 2694 Content-Encoding UTF-8 stream_name Roos_2016_ABSTRACT.pdf.txt Content-Type text/plain; charset=UTF-8 21st SolarPACES... International Conference (SolarPACES 2015), 13-16 October 2015 Preliminary Performance Analysis of a Transverse Flow Spectrally Selective Two-slab Packed Bed Volumetric Receiver Thomas H. Roos1, a) and Thomas M. Harms2, b) 1Aeronautical Systems...

  5. Preliminary Report: Analysis of the baseline study on the prevalence of Salmonella in laying hen flocks of Gallus gallus

    DEFF Research Database (Denmark)

    Hald, Tine

    This is a preliminary report on the analysis of the Community-wide baseline study to estimate the prevalence of Salmonella in laying hen flocks. It is being published pending the full analysis of the entire dataset from the baseline study. The report contains the elements necessary for the establ......This is a preliminary report on the analysis of the Community-wide baseline study to estimate the prevalence of Salmonella in laying hen flocks. It is being published pending the full analysis of the entire dataset from the baseline study. The report contains the elements necessary...

  6. Crystallization and preliminary X-ray crystallographic analysis of the sclerostin-neutralizing Fab AbD09097.

    Science.gov (United States)

    Boschert, Verena; Muth, Eva Maria; Knappik, Achim; Frisch, Christian; Mueller, Thomas D

    2015-04-01

    The secreted cystine-knot protein sclerostin was first identified from genetic screening of patients suffering from the rare bone-overgrowth diseases sclerosteosis and van Buchem disease. Sclerostin acts a negative regulator of bone growth through inhibiting the canonical Wnt signalling cascade by binding to and blocking the Wnt co-receptor LRP5/6. Its function in blocking osteoblastogenesis makes it an important target for osteoanabolic therapy approaches to treat osteoporosis, which is characterized by a progressive decrease in bone mass and density. In this work, the production, crystallization and preliminary X-ray diffraction data analysis of a sclerostin-neutralizing human Fab antibody fragment, AbD09097, obtained from a naive antibody library are reported. Crystals of the Fab AbD09097 belonged to space group P21, with unit-cell parameters a = 45.19, b = 78.49, c = 59.20 Å, β = 95.71° and diffracted X-rays to a resolution of 1.8 Å.

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

    Directory of Open Access Journals (Sweden)

    A. N. Diaz-Lacava

    2015-01-01

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

  8. Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

    Directory of Open Access Journals (Sweden)

    Wang S Alex

    2010-01-01

    Full Text Available Abstract Background The genetic contributions to human common disorders and mouse genetic models of disease are complex and often overlapping. In common human diseases, unlike classical Mendelian disorders, genetic factors generally have small effect sizes, are multifactorial, and are highly pleiotropic. Likewise, mouse genetic models of disease often have pleiotropic and overlapping phenotypes. Moreover, phenotypic descriptions in the literature in both human and mouse are often poorly characterized and difficult to compare directly. Methods In this report, human genetic association results from the literature are summarized with regard to replication, disease phenotype, and gene specific results; and organized in the context of a systematic disease ontology. Similarly summarized mouse genetic disease models are organized within the Mammalian Phenotype ontology. Human and mouse disease and phenotype based gene sets are identified. These disease gene sets are then compared individually and in large groups through dendrogram analysis and hierarchical clustering analysis. Results Human disease and mouse phenotype gene sets are shown to group into disease and phenotypically relevant groups at both a coarse and fine level based on gene sharing. Conclusion This analysis provides a systematic and global perspective on the genetics of common human disease as compared to itself and in the context of mouse genetic models of disease.

  9. Genetic Analysis of Oncorhynchus Nerka : Life History and Genetic Analysis of Redfish Lake Oncorhynchus Nerka, 1993-1994 Completion Report.

    Energy Technology Data Exchange (ETDEWEB)

    Brannon, E.L.; Thorgaard, G.H.; Cummings, S.A.

    1994-10-01

    The study has shown through life history examination and DNA analysis that three forms of O. nerka are present in Redfish Lake. The three forms are closely related, but may be sufficiently different to be considered three separate stocks. Fishhook Creek kokanee are temporally isolated from the beach spawners, and may represent the gene pool most similar to the historic sockeye population that once spawned there. Fishhook Creek offers the best spawning area available in the lake system, and should be considered for use in reestablishing an anadromous Fishhook Creek sockeye swain. The resident beach spawning strain of O. nerka is likewise the most similar genetic form of the companion anadromous beach spawning O. nerka, and needs to be considered the most appropriate genetic source to help minimize reduced fitness of the sockeye from inbreeding.

  10. Overview of genetic analysis of human opioid receptors.

    Science.gov (United States)

    Spampinato, Santi M

    2015-01-01

    The human μ-opioid receptor gene (OPRM1), due to its genetic and structural variation, has been a target of interest in several pharmacogenetic studies. The μ-opioid receptor (MOR), encoded by OPRM1, contributes to regulate the analgesic response to pain and also controls the rewarding effects of many drugs of abuse, including opioids, nicotine, and alcohol. Genetic polymorphisms of opioid receptors are candidates for the variability of clinical opioid effects. The non-synonymous polymorphism A118G of the OPRM1 has been repeatedly associated with the efficacy of opioid treatments for pain and various types of dependence. Genetic analysis of human opioid receptors has evidenced the presence of numerous polymorphisms either in exonic or in intronic sequences as well as the presence of synonymous coding variants that may have important effects on transcription, mRNA stability, and splicing, thus affecting gene function despite not directly disrupting any specific residue. Genotyping of opioid receptors is still in its infancy and a relevant progress in this field can be achieved by using advanced gene sequencing techniques described in this review that allow the researchers to obtain vast quantities of data on human genomes and transcriptomes in a brief period of time and with affordable costs.

  11. Estimation of genetic distance of rabbit by morphometric analysis

    Directory of Open Access Journals (Sweden)

    B Brahmantiyo

    2006-10-01

    Full Text Available The observation on morphological body conformation of English Spot (ES, Flemish Giant (FG, New Zealand White (NZWm, and Rex (Rexm from Magelang, Central Java, and New Zealand White (NZWb, Rex (Rexb, Satin (Satin and RS (RS from Balitnak-Ciawi, were carried out to determine estimation of Mahalanobis genetic distance. This research was held in Magelang (Central Java and Balitnak-Ciawi (West Java, 237 heads of Rabbits were used. Eleven different body parts were measured, those were head (length and width, ear (length and width, chest (girth, depth, and width, humerus length, radius-ulna length, tibia length and body length. General Linear Models were used in this observation (SAS package program. Simple discriminant analyses as further analyses were done for head (length and width, chest (girth, depth, and width, humerus length, radius-ulna length, tibia length and body length. ES, FG and NZWm rabbits had morphological size bigger than others. Mahalanobis genetic distance showed that NZWm and NZWb, Rexm and Rexb were had differences with genetic distances of 5.89139 and 6.75571 respectively. Rabbits from Magelang and from Balitnak were different on morphometric with mahalanobis distance of that region ranges were 4.89426 to 6.96749. Results from canonical analysis showed that the most discriminant variables were obtained by chest girth, chest width and humerus length on first canonical and head length on second cannonical.

  12. Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree.

    Science.gov (United States)

    Shen, Yunfeng; Lai, Xiaoyang; Xiao, Xinlan; Li, Jing; Yu, Rong; Gao, Hui; Zhang, Meiying

    2014-01-01

    As an X-linked recessive way, arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease - congenital nephrogenic diabetes insipidus (CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. The clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene. Both the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309L and a nonsense mutation R337X. The AVPR2 gene R337X mutation was co-segregated with CNDI. R337X mutation was not a reported mutation in the mainland of China. The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China.

  13. Genetic and phylogenetic analysis of feline calicivirus isolates in China.

    Science.gov (United States)

    Sun, Yaxin; Deng, Mingliang; Peng, Zhong; Hu, Ruiming; Chen, Huanchun; Wu, Bin

    2017-02-01

    The aim of this study was to determine the genetic diversity of Chinese feline calicivirus (FCV) isolates and their phylogenetic relationship with isolates from elsewhere in the world. Phylogenetic analysis was performed based on the partial open reading frame (ORF) 2 sequences (regions B-F) of 21 Chinese FCV isolates and 30 global isolates. The Chinese isolates included 13 isolates from Wuhan, which were isolated in this study, and eight previously published isolates. Sixteen Chinese isolates and two Japanese isolates formed a distinct phylogenetic cluster. Phylogenetic analysis based on the sequences of the complete genome, ORF1, ORF2 and ORF3 of selected isolates supported the above findings. Genogroup analysis revealed that FCV genogroup II is present in China. These findings suggest that Chinese FCV isolates are closely related to Japanese FCV isolates. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Genetic Analysis of Early Generation Stability in Rice

    Institute of Scientific and Technical Information of China (English)

    ZHOU Li-Jun; Ao Guang-Hui; XIAO Yi; WU Xian-Jun; LI Shi-Gui

    2005-01-01

    The mechanism of early generation stability (EGS) in rice was studied via genetic analysis. Three types of crosses were made, namely between EGS varieties, EGS and conventional rice variety, and conventional rice varieties. The genetic analysis was based on the stable lines in F2 population. The stable lines may appear from some combinations of EGS rice crossing with each other and EGS rice crossing with conventional varieties at different frequencies, but stable lines didn't appear in conventional varieties crossing with conventional varieties. Genetic analysis results indicated that the EGS phenomena should just exist in special rice materials, and the frequency of stable lines was closely related to the EGS traits of parents. The EGS traits were neither qualitative nor quantitative traits, and they were controlled by neither dominant genes nor recessive genes. The EGS traits might be inherited by F1 single plant, and the traits of F3 and F4 were corresponded to those of F2 population, i.e. F3 and F4 lines derived from non-segregating F2 showed uniform agronomic traits, and those from segregating F2.did not. The agronomic traits of EGS lines were consistent with those of F1 single plant. On the other hand, when EGS lines occurred, the segregating lines in Mendelian manner were also observed in all F2 population of the same combination. It was suggested that the reason why the stable strains occurred might be a special factor to control (open/close) gene at the beginning of cell division in zygote, resulting in closing mitosis and opening somatic reduction. The somatic reduction of zygote resulted in recombination and homozygosity forming in F1 single plant,and some lines with uniform agronomic traits were observed in some lines of F2 population.

  15. A Generalized Genetic Random Field Method for the Genetic Association Analysis of Sequencing Data

    Science.gov (United States)

    Li, Ming; He, Zihuai; Zhang, Min; Zhan, Xiaowei; Wei, Changshuai; Elston, Robert C.; Lu, Qing

    2017-01-01

    With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new sequencing technologies hold great promise to unravel novel genetic variants, especially rare genetic variants that contribute to human diseases, the statistical analysis of high-dimensional sequencing data remains a challenge. Advanced analytical methods are in great need to facilitate high-dimensional sequencing data analyses. In this article, we propose a generalized genetic random field (GGRF) method for association analyses of sequencing data. Like other similarity-based methods (e.g., SIMreg and SKAT), the new method has the advantages of avoiding the need to specify thresholds for rare variants and allowing for testing multiple variants acting in different directions and magnitude of effects. The method is built on the generalized estimating equation framework and thus accommodates a variety of disease phenotypes (e.g., quantitative and binary phenotypes). Moreover, it has a nice asymptotic property, and can be applied to small-scale sequencing data without need for small-sample adjustment. Through simulations, we demonstrate that the proposed GGRF attains an improved or comparable power over a commonly used method, SKAT, under various disease scenarios, especially when rare variants play a significant role in disease etiology. We further illustrate GGRF with an application to a real dataset from the Dallas Heart Study. By using GGRF, we were able to detect the association of two candidate genes, ANGPTL3 and ANGPTL4, with serum triglyceride. PMID:24482034

  16. A cluster analysis on road traffic accidents using genetic algorithms

    Science.gov (United States)

    Saharan, Sabariah; Baragona, Roberto

    2017-04-01

    The analysis of traffic road accidents is increasingly important because of the accidents cost and public road safety. The availability or large data sets makes the study of factors that affect the frequency and severity accidents are viable. However, the data are often highly unbalanced and overlapped. We deal with the data set of the road traffic accidents recorded in Christchurch, New Zealand, from 2000-2009 with a total of 26440 accidents. The data is in a binary set and there are 50 factors road traffic accidents with four level of severity. We used genetic algorithm for the analysis because we are in the presence of a large unbalanced data set and standard clustering like k-means algorithm may not be suitable for the task. The genetic algorithm based on clustering for unknown K, (GCUK) has been used to identify the factors associated with accidents of different levels of severity. The results provided us with an interesting insight into the relationship between factors and accidents severity level and suggest that the two main factors that contributes to fatal accidents are "Speed greater than 60 km h" and "Did not see other people until it was too late". A comparison with the k-means algorithm and the independent component analysis is performed to validate the results.

  17. EMBO Course “Formal Analysis of Genetic Regulation”

    CERN Document Server

    1979-01-01

    The E M B 0 course on "Formal Analysis of Genetic Regulation" A course entitled "Formal analysis of Genetic Regulation" was held at the University of Brussels from 6 to 16 September 1977 under the auspices of EMBO (European Molecular Biology Organization). As indicated by the title of the book (but not explicitly enough by the title of the course), the main emphasis was put on a dynamic analysis of systems using logical methods, that is, methods in which functions and variables take only a limited number of values - typically two. In this respect, this course was complementary to an EMBO course using continuous methods which was held some months later in Israel by Prof. Segel. People from four very different laboratories took an active part in teaching our course in Brussels : Drs Anne LEUSSLER and Philippe VAN HAM, from the Laboratory of Prof. Jean FLORINE (Laboratoire des Systemes logiques et numeriques, Faculte des Sciences appliquees, Universite Libre de Bruxelles). Dr Stuart KAUFFMAN (Dept. of Biochemist...

  18. Preliminary phytochemical screening, Antibacterial potential and GC-MS analysis of two medicinal plant extracts.

    Science.gov (United States)

    Vijayaram, Seerangaraj; Kannan, Suruli; Saravanan, Konda Mani; Vasantharaj, Seerangaraj; Sathiyavimal, Selvam; P, Palanisamy Senthilkumar

    2016-05-01

    The presence study was aimed to catalyze the primary metabolites and their confirmation by using GC-MS analysis and antibacterial potential of leaf extract of two important medicinal plant viz., Eucalyptus and Azadirachta indica. The antibacterial potential of the methanol leaf extract of the studied species was tested against Escherichia coli, Pseudomonas aeruginosa, Klebsiellap neumoniae, Streptococcus pyogens, Staphylococcus aureus using by agar well diffusion method. The higher zone of inhibition (16mm) was observed against the bacterium Pseudomonas aeruginosa at 100μl concentration of methanol leaf extract. Preliminary phytochemical analysis of studied species shows that presence of phytochemical compounds like steroids, phenolic compounds and flavonoids. GC-MS analysis confirms the occurrence of 20 different compounds in the methanol leaf extract of the both studied species.

  19. 1972 preliminary safety analysis report based on a conceptual design of a proposed repository in Kansas

    Energy Technology Data Exchange (ETDEWEB)

    Blomeke, J.O.

    1977-08-01

    This preliminary safety analysis report is based on a proposed Federal Repository at Lyons, Kansas, for receiving, handling, and depositing radioactive solid wastes in bedded salt during the remainder of this century. The safety analysis applies to a hypothetical site in central Kansas identical to the Lyons site, except that it is free of nearby salt solution-mining operations and bore holes that cannot be plugged to Repository specifications. This PSAR contains much information that also appears in the conceptual design report. Much of the geological-hydrological information was gathered in the Lyons area. This report is organized in 16 sections: considerations leading to the proposed Repository, design requirements and criteria, a description of the Lyons site and its environs, land improvements, support facilities, utilities, different impacts of Repository operations, safety analysis, design confirmation program, operational management, requirements for eventually decommissioning the facility, design criteria for protection from severe natural events, and the proposed program of experimental investigations. (DLC)

  20. Preliminary Cluster Analysis For Several Representatives Of Genus Kerivoula (Chiroptera: Vespertilionidae) in Borneo

    Science.gov (United States)

    Hasan, Noor Haliza; Abdullah, M. T.

    2008-01-01

    The aim of the study is to use cluster analysis on morphometric parameters within the genus Kerivoula to produce a dendrogram and to determine the suitability of this method to describe the relationship among species within this genus. A total of 15 adult male individuals from genus Kerivoula taken from sampling trips around Borneo and specimens kept at the zoological museum of Universiti Malaysia Sarawak were examined. A total of 27 characters using dental, skull and external body measurements were recorded. Clustering analysis illustrated the grouping and morphometric relationships between the species of this genus. It has clearly separated each species from each other despite the overlapping of measurements of some species within the genus. Cluster analysis provides an alternative approach to make a preliminary identification of a species.

  1. PRELIMINARY REPORT ON THE PUTATIVE ASSOCIATION OF IL10 -3575 T/A GENETIC POLYMORPHISM WITH MALARIA SYMPTOMS.

    Science.gov (United States)

    Domingues, Wilson; Kanunfre, Kelly Aparecida; Rodrigues, Jonatas Cristian; Teixeira, Leandro Emidio; Yamamoto, Lidia; Okay, Thelma Suely

    2016-01-01

    Only a small percentage of individuals living in endemic areas develop severe malaria suggesting that host genetic factors may play a key role. This study has determined the frequency of single nucleotide polymorphisms (SNPs) in some pro and anti-inflammatory cytokine gene sequences: IL6 (-174; rs1800795), IL12p40 (+1188; rs3212227), IL4 (+33; rs2070874), IL10 (-3575; rs1800890) and TGFb1 (+869; rs1800470), by means of PCR-RFLP. Blood samples were collected from 104 symptomatic and 37 asymptomatic subjects. Laboratory diagnosis was assessed by the thick blood smear test and nested-PCR. No association was found between IL6 (-174), IL12p40 (+1188), IL4 (+33), IL10 (- 3575), TGFb1 (+869) SNPs and malaria symptoms. However, regarding the IL10 -3575 T/A SNP, there were significantly more AA and AT subjects, carrying the polymorphic allele A, in the symptomatic group (c2 = 4.54, p = 0.01, OR = 0.40 [95% CI - 0.17- 0.94]). When the analysis was performed by allele, the frequency of the polymorphic allele A was also significantly higher in the symptomatic group (c2 = 4.50, p = 0.01, OR = 0.45 [95% CI - 0.21-0.95]). In conclusion, this study has suggested the possibility that the IL10 - 3575 T/A SNP might be associated with the presence and maintenance of malaria symptoms in individuals living in endemic areas. Taking into account that this polymorphism is related to decreased IL10 production, a possible role of this SNP in the pathophysiology of malaria is also suggested, but replication studies with a higher number of patients and evaluation of IL10 levels are needed for confirmation.

  2. The purification, crystallization and preliminary X-ray diffraction analysis of dihydrodipicolinate synthase from Clostridium botulinum

    Energy Technology Data Exchange (ETDEWEB)

    Dobson, Renwick C. J., E-mail: rdobson@unimelb.edu.au; Atkinson, Sarah C. [Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010 (Australia); Bio21 Molecular Science and Biotechnology Institute, 30 Flemington Road, University of Melbourne, Parkville, Victoria 3010 (Australia); Gorman, Michael A. [St Vincents Institute, 9 Princes Street, Fitzroy, Victoria 3065 (Australia); Newman, Janet M. [CSIRO Division of Molecular and Health Technologies, 343 Royal Parade, Parkville, Victoria 3052 (Australia); Parker, Michael W. [Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010 (Australia); Bio21 Molecular Science and Biotechnology Institute, 30 Flemington Road, University of Melbourne, Parkville, Victoria 3010 (Australia); St Vincents Institute, 9 Princes Street, Fitzroy, Victoria 3065 (Australia); Perugini, Matthew A. [Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010 (Australia); Bio21 Molecular Science and Biotechnology Institute, 30 Flemington Road, University of Melbourne, Parkville, Victoria 3010 (Australia)

    2008-03-01

    Dihydrodipicolinate synthase (DHDPS), an enzyme in the lysine-biosynthetic pathway, is a promising target for antibiotic development against pathogenic bacteria. Here, the expression, purification, crystallization and preliminary diffraction analysis of DHDPS from C. botulinum are reported. In recent years, dihydrodipicolinate synthase (DHDPS; EC 4.2.1.52) has received considerable attention from both mechanistic and structural viewpoints. This enzyme, which is part of the diaminopimelate pathway leading to lysine, couples (S)-aspartate-β-semialdehyde with pyruvate via a Schiff base to a conserved active-site lysine. In this paper, the expression, purification, crystallization and preliminary X-ray diffraction analysis of DHDPS from Clostridium botulinum, an important bacterial pathogen, are presented. The enzyme was crystallized in a number of forms, predominantly using PEG precipitants, with the best crystal diffracting to beyond 1.9 Å resolution and displaying P4{sub 2}2{sub 1}2 symmetry. The unit-cell parameters were a = b = 92.9, c = 60.4 Å. The crystal volume per protein weight (V{sub M}) was 2.07 Å{sup 3} Da{sup −1}, with an estimated solvent content of 41%. The structure of the enzyme will help guide the design of novel therapeutics against the C. botulinum pathogen.

  3. A Preliminary Analysis of Reactor Performance Test (LOEP) for a Research Reactor

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyeonil; Park, Su-Ki [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2015-10-15

    The final phase of commissioning is reactor performance test, which is to prove the integrated performance and safety of the research reactor at full power with fuel loaded such as neutron power calibration, Control Absorber Rod/Second Shutdown Rod drop time, InC function test, Criticality, Rod worth, Core heat removal with natural mechanism, and so forth. The last test will be safety-related one to assure the result of the safety analysis of the research reactor is marginal enough to be sure about the nuclear safety by showing the reactor satisfies the acceptance criteria of the safety functions such as for reactivity control, maintenance of auxiliaries, reactor pool water inventory control, core heat removal, and confinement isolation. After all, the fuel integrity will be ensured by verifying there is no meaningful change in the radiation levels. To confirm the performance of safety equipment, loss of normal electric power (LOEP), possibly categorized as Anticipated Operational Occurrence (AOO), is selected as a key experiment to figure out how safe the research reactor is before turning over the research reactor to the owner. This paper presents a preliminary analysis of the reactor performance test (LOEP) for a research reactor. The results showed how different the transient between conservative estimate and best estimate will look. Preliminary analyses have shown all probable thermal-hydraulic transient behavior of importance as to opening of flap valve, minimum critical heat flux ratio, the change of flow direction, and important values of thermal-hydraulic parameters.

  4. Haplotype sharing analysis with SNPs in candidate genes : The genetic analysis workshop 12 example

    NARCIS (Netherlands)

    Fischer, C; Beckmann, L; Majoram, P; Meerman, GT; Chang-Claude, J

    2003-01-01

    Haplotype sharing analysis was used to investigate the association of affection status with single nucleotide polymorphism (SNP) haplotypes within candidate gene 1 in one sample each from the isolated and the general population of Genetic Analysis Workshop (GAW) 12 simulated data. Gene 1 has direct

  5. Dielectrophoretic capture and genetic analysis of single neuroblastoma tumor cells

    Directory of Open Access Journals (Sweden)

    Erica L Carpenter

    2014-07-01

    Full Text Available Our understanding of the diversity of cells that escape the primary tumor and seed micrometastases remains rudimentary, and approaches for studying circulating and disseminated tumor cells have been limited by low throughput and sensitivity, reliance on single parameter sorting, and a focus on enumeration rather than phenotypic and genetic characterization. Here we utilize a highly sensitive microfluidic and dielectrophoretic approach for the isolation and genetic analysis of individual tumor cells. We employed fluorescence labeling to isolate 208 single cells from spiking experiments conducted with 11 cell lines, including 8 neuroblastoma cell lines, and achieved a capture sensitivity of 1 tumor cell per 106 white blood cells. Sample fixation or freezing had no detectable effect on cell capture. Point mutations were accurately detected in the whole genome amplification product of captured single tumor cells but not in negative control white blood cells. We applied this approach to capture 144 single tumor cells from 10 bone marrow samples from patients suffering from neuroblastoma. In this pediatric malignancy, high-risk patients often exhibit wide-spread hematogenous metastasis, but access to primary tumor can be difficult or impossible. Here we used flow-based sorting to pre-enrich samples with tumor involvement below 0.02%. For all patients for whom a mutation in the Anaplastic Lymphoma Kinase gene had already been detected in their primary tumor, the same mutation was detected in single cells from their marrow. These findings demonstrate a novel, non-invasive, and adaptable method for the capture and genetic analysis of single tumor cells from cancer patients.

  6. Preliminary design and thermal analysis of device for finish cooling Jaffa biscuits in a.d. 'Jaffa'- Crvenka

    Directory of Open Access Journals (Sweden)

    Salemović Duško R.

    2015-01-01

    Full Text Available In this paper preliminary design of device for finish cooling chocolate topping of biscuits in A.D. 'Jaffa'- Crvenka was done. The proposed preliminary design followed by the required technological process of finish cooling biscuits and required parameters of process which was supposed to get and which represented part of project task. Thermal analysis was made and obtained percentage error between surface contact of the air and chocolate topping, obtained from heat balance and geometrical over proposed preliminary design, wasn't more than 0.67%. This is a preliminary design completely justified because using required length of belt conveyor receive required temperature of chocolate topping at the end of the cooling process.

  7. Mini-DIAL system measurements coupled with multivariate data analysis to identify TIC and TIM simulants: preliminary absorption database analysis.

    Science.gov (United States)

    Gaudio, P.; Malizia, A.; Gelfusa, M.; Martinelli, E.; Di Natale, C.; Poggi, L. A.; Bellecci, C.

    2017-01-01

    Nowadays Toxic Industrial Components (TICs) and Toxic Industrial Materials (TIMs) are one of the most dangerous and diffuse vehicle of contamination in urban and industrial areas. The academic world together with the industrial and military one are working on innovative solutions to monitor the diffusion in atmosphere of such pollutants. In this phase the most common commercial sensors are based on “point detection” technology but it is clear that such instruments cannot satisfy the needs of the smart cities. The new challenge is developing stand-off systems to continuously monitor the atmosphere. Quantum Electronics and Plasma Physics (QEP) research group has a long experience in laser system development and has built two demonstrators based on DIAL (Differential Absorption of Light) technology could be able to identify chemical agents in atmosphere. In this work the authors will present one of those DIAL system, the miniaturized one, together with the preliminary results of an experimental campaign conducted on TICs and TIMs simulants in cell with aim of use the absorption database for the further atmospheric an analysis using the same DIAL system. The experimental results are analysed with standard multivariate data analysis technique as Principal Component Analysis (PCA) to develop a classification model aimed at identifying organic chemical compound in atmosphere. The preliminary results of absorption coefficients of some chemical compound are shown together pre PCA analysis.

  8. Genetic analysis of growth curves using the SAEM algorithm

    Directory of Open Access Journals (Sweden)

    Lavielle Marc

    2006-11-01

    Full Text Available Abstract The analysis of nonlinear function-valued characters is very important in genetic studies, especially for growth traits of agricultural and laboratory species. Inference in nonlinear mixed effects models is, however, quite complex and is usually based on likelihood approximations or Bayesian methods. The aim of this paper was to present an efficient stochastic EM procedure, namely the SAEM algorithm, which is much faster to converge than the classical Monte Carlo EM algorithm and Bayesian estimation procedures, does not require specification of prior distributions and is quite robust to the choice of starting values. The key idea is to recycle the simulated values from one iteration to the next in the EM algorithm, which considerably accelerates the convergence. A simulation study is presented which confirms the advantages of this estimation procedure in the case of a genetic analysis. The SAEM algorithm was applied to real data sets on growth measurements in beef cattle and in chickens. The proposed estimation procedure, as the classical Monte Carlo EM algorithm, provides significance tests on the parameters and likelihood based model comparison criteria to compare the nonlinear models with other longitudinal methods.

  9. Genetic analysis of growth traits in Harnali sheep

    Directory of Open Access Journals (Sweden)

    Lalit

    2016-02-01

    Full Text Available Aim: The present investigation was to study genetic characteristics of Harnali sheep with respect to growth performance and to estimate genetic parameters. Materials and Methods: The 22 years (1992-2013 data of growth traits of a 1603 synthetic population of Harnali sheep maintained at Lala Lajpat Rai University of Veterinary and Animal Sciences, Hisar, was utilized for this study. A mixed methodology with regression on their dam’s weight was used to study the effect of non-genetic factors on growth traits. Heritability, genetic and phenotypic correlations were estimated using paternal half-sib analysis for body weight at various ages and average daily gain (ADG for different growth periods. Result: The overall least squares mean of body weights recorded for birth weight (BW, weaning weight (WW, six months body weight (SMW, one yearling body weight (YBW, average daily gain from birth to 3 months (ADG1 and average daily gain from 3 to 12 months (ADG2 were 3.35±0.05 kg, 12.41±0.08 kg, 16.30±0.12 kg, 21.88±0.08 kg, 100.66±0.86 g/day and 35.07±0.39 g/day, respectively. The effects of year of birth significantly (p<0.01 influenced the BW, WW, SMW, YWB, ADG1 and ADG2. The effects of sex of lamb significantly (p<0.01 influenced the BW, WW SMW, YWB, ADG1 and ADG2. The effects of dam’s weight at lambing significantly (p<0.01 influenced BW, WW, SMW, YWB, ADG1 and ADG2. No definite trend was observed over the years for the averages of body weight and gain. The heritability estimates of BW, WW, SMW, YBW, ADG1 and ADG2 were 0.40±0.05, 0.38±0.05, 0.45±0.06, 0.29±0.05, 0.40±0.06 and 0.33±0.02, respectively. The male lambs were significantly heavier than females at all stages of growth. The heritability estimates were moderate for all the growth traits and high genetic correlations of BW and WW with SMW were found. Conclusion: Due to high heritability and positive correlations of SMW with other body weights and daily gain, it was concluded that

  10. Characteristic analysis and prevention on premature convergence in genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    徐宗本; 高勇

    1997-01-01

    The identification and characteristics of premature convergence in genetic algorithms (GAs) are investigated Through a detailed quantitative analysis on the search capability and the degree of population diversity, the cause of premature convergence in GAs is recognized, and attributed to the maturation effect of the GAs: The minimum schema deduced from current population, which is the largest search space of a GA, converges to a homogeneous population in probability 1 ( so the search capability of the GA decreases and premature convergence occurs). It is shown that, as quantitative features of the maturation effect, the degree of population diversity converges to zero with probability 1, and the tendency for premature convergence is inversely proportional to the population size and directly proportional to the variance of the fitness ratio of zero allele at any gene position of the current population. Based on the theoretical analysis, several strategies for preventing premature convergence are suggest

  11. Analysis of Japanese newspaper articles on genetic modification

    Directory of Open Access Journals (Sweden)

    Ryuma Shineha

    2008-06-01

    Full Text Available The rapid spread of technologies involving the application of “Genetic Modification (GM” raised the need for science communication on this new technology in society. To consider the communication on GM in the society, an understanding of the current mass media is required. This paper shows the whole picture of newspaper discourses on GM in Japan. For the Japanese public, newspapers represent one of the major sources of information on GM. We subjected the two Japanese newspapers with the largest circulation, the Asahi Shimbun and Yomiuri Shimbun, to an analysis of the full text of approximately 4000 articles on GM published over the past to perform an assessment of the change of reportage on GM. As for the most important results, our analysis shows that there are two significant shifts with respect to the major topics addressed in articles on GM by Japanese newspapers.

  12. Preliminary Nuclear Analysis for the HANARO Fuel Element with Burnable Absorber

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Chul Gyo; Kim, So Young; In, Won Ho [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2015-10-15

    Burnable absorber is used for reducing reactivity swing and power peaking in high performance research reactors. Development of the HANARO fuel element with burnable absorber was started in the U-Mo fuel development program at HANARO, but detailed full core analysis was not performed because the current HANARO fuel management system is uncertain to analysis the HANARO core with burnable absorber. A sophisticated reactor physics system is required to analysis the core. The McCARD code was selected and the detailed McCARD core models, in which the basic HANARO core model was developed by one of the McCARD developers, are used in this study. The development of nuclear fuel requires a long time and correct developing direction especially by the nuclear analysis. This paper presents a preliminary nuclear analysis to promote the fuel development. Based on the developed fuel, the further nuclear analysis will improve reactor performance and safety. Basic nuclear analysis for the HANARO and the AHR were performed for getting the proper fuel elements with burnable absorber. Addition of 0.3 - 0.4% Cd to the fuel meat is promising for the current HANARO fuel element. Small addition of burnable absorber may not change any fuel characteristics of the HANARO fuel element, but various basic tests and irradiation tests at the HANARO core are required.

  13. Treatment by gliding arc of epoxy resin: preliminary analysis of surface modifications

    Science.gov (United States)

    Faubert, F.; Wartel, M.; Pellerin, N.; Pellerin, S.; Cochet, V.; Regnier, E.; Hnatiuc, B.

    2016-12-01

    Treatments with atmospheric pressure non-thermal plasma are easy to implement and inexpensive. Among them gliding arc (GlidArc) remains rarely used in surface treatment of polymers. However, it offers economic and flexible way to treat quickly large areas. In addition the choice of carrier gas makes it possible to bring the active species and other radicals allowing different types of grafting and functionalization of the treated surfaces, for example in order to apply for anti-biofouling prevention. This preliminary work includes analysis of the surface of epoxy resins by infrared spectroscopy: the different affected chemical bonds were studied depending on the duration of treatment. The degree of oxidation (the C/O ratio) is obtained by X-ray microanalysis and contact angle analysis have been performed to determinate the wettability properties of the treated surface. A spectroscopic study of the plasma allows to determine the possible active species in the different zones of the discharge.

  14. Los Alamos National Laboratory corregated metal pipe saw facility preliminary safety analysis report. Volume I

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1990-09-19

    This Preliminary Safety Analysis Report addresses site assessment, facility design and construction, and design operation of the processing systems in the Corrugated Metal Pipe Saw Facility with respect to normal and abnormal conditions. Potential hazards are identified, credible accidents relative to the operation of the facility and the process systems are analyzed, and the consequences of postulated accidents are presented. The risk associated with normal operations, abnormal operations, and natural phenomena are analyzed. The accident analysis presented shows that the impact of the facility will be acceptable for all foreseeable normal and abnormal conditions of operation. Specifically, under normal conditions the facility will have impacts within the limits posted by applicable DOE guidelines, and in accident conditions the facility will similarly meet or exceed the requirements of all applicable standards. 16 figs., 6 tabs.

  15. Preliminary Uncertainty Analysis for SMART Digital Core Protection and Monitoring System

    Energy Technology Data Exchange (ETDEWEB)

    Koo, Bon Seung; In, Wang Kee; Hwang, Dae Hyun [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

    2012-05-15

    The Korea Atomic Energy Research Institute (KAERI) developed on-line digital core protection and monitoring systems, called SCOPS and SCOMS as a part of SMART plant protection and monitoring system. SCOPS simplified the protection system by directly connecting the four RSPT signals to each core protection channel and eliminated the control element assembly calculator (CEAC) hardware. SCOMS adopted DPCM3D method in synthesizing core power distribution instead of Fourier expansion method being used in conventional PWRs. The DPCM3D method produces a synthetic 3-D power distribution by coupling a neutronics code and measured in-core detector signals. The overall uncertainty analysis methodology which is used statistically combining uncertainty components of SMART core protection and monitoring system was developed. In this paper, preliminary overall uncertainty factors for SCOPS/SCOMS of SMART initial core were evaluated by applying newly developed uncertainty analysis method

  16. Preliminary cladistic analysis of genera of the cestode order Trypanorhyncha Diesing, 1863.

    Science.gov (United States)

    Beveridge, I; Campbell, R A; Palm, H W

    1999-01-01

    A preliminary cladistic analysis was carried out on the 49 currently recognised genera of the order Trypanorhyncha. Forty-four characters were analysed; a functional outgroup was used for scolex and strobilar characters, while Nybelinia was utilised to polarise characters related to the rhyncheal system. Eight well-resolved clades were evident in the resultant cladogram, which is compared with existing phenetic classifications. An analysis of families resulted in a similar clustering of taxa to that observed in the case of the genera. The results suggest that two key characters used in existing classifications, namely the presence of sensory fossettes on the bothridia and the development of atypical heteroacanth and poeciloacanth armatures from typical heteroacanth armatures, have occurred on several occasions. Some clades provide support for the arrangements used in current classifications. Suggestions are made for future avenues of research which might provide more robust phylogenetic data for the Trypanorhyncha.

  17. Preliminary Evaluation of MapReduce for High-Performance Climate Data Analysis

    Science.gov (United States)

    Duffy, Daniel Q.; Schnase, John L.; Thompson, John H.; Freeman, Shawn M.; Clune, Thomas L.

    2012-01-01

    MapReduce is an approach to high-performance analytics that may be useful to data intensive problems in climate research. It offers an analysis paradigm that uses clusters of computers and combines distributed storage of large data sets with parallel computation. We are particularly interested in the potential of MapReduce to speed up basic operations common to a wide range of analyses. In order to evaluate this potential, we are prototyping a series of canonical MapReduce operations over a test suite of observational and climate simulation datasets. Our initial focus has been on averaging operations over arbitrary spatial and temporal extents within Modern Era Retrospective- Analysis for Research and Applications (MERRA) data. Preliminary results suggest this approach can improve efficiencies within data intensive analytic workflows.

  18. Dimensions of Human-Work Domain Interaction: A Preliminary Analysis for the Design of a Corporate Digital Library.

    Science.gov (United States)

    Xie, Hong

    2003-01-01

    Applies the cognitive system engineering approach to investigate human-work interaction at a corporate setting. Reports preliminary analysis of data collected from diary analysis and interview of 20 subjects. Results identify three dimensions for each of four interactive activities involved in human-work interaction and their relationships.…

  19. Genetic analysis of superovulatory response of Holstein cows in Canada.

    Science.gov (United States)

    Jaton, C; Koeck, A; Sargolzaei, M; Malchiodi, F; Price, C A; Schenkel, F S; Miglior, F

    2016-05-01

    Superovulation of dairy cattle is frequently used in Canada. The cost of this protocol is high, and so is the variability of the outcome. Knowing the superovulatory potential of a donor cow could influence the breeder's decision to superovulate it or not. The main objective of this study was to perform a genetic analysis for superovulatory response of Holstein cows in Canada using data recorded by Holstein Canada, and to investigate if these data could be used for genetic evaluation. Data contained the total number of embryos and the number of viable embryos from every successful flushing performed across Canada. After editing, 137,446 records of superovulation performed between 1992 and 2014 were analyzed. A univariate repeatability animal model analysis was performed for both total number of embryos and number of viable embryos. Because both data and residuals did not follow a normal distribution, records were subject to either logarithmic or Anscombe transformation. Using logarithmic transformation, heritability estimates (SE) of 0.15 (0.01) and 0.14 (0.01) were found for total number of embryos and number of viable embryos, respectively. Using Anscombe transformation, heritability estimates (SE) of 0.17 (0.01) and 0.14 (0.01) were found for total number of embryos and number of viable embryos, respectively. The genetic correlation between the 2 traits was estimated at 0.97 using logarithmic transformation and 0.95 using Anscombe transformation. Breeding values were estimated for 54,463 cows, and 3,513 sires. Only estimated breeding values of sires having a reliability higher than 40% were considered for estimated breeding values correlations with other routinely evaluated traits. The results showed that selection for a higher response to superovulation would lead to a slight decrease in milk production, but an improvement for functional traits, including all reproduction traits. In all cases, the estimated correlations are either low or modest. We conclude that

  20. Preliminary failure modes and effects analysis on Korean HCCR TBS to be tested in ITER

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Mu-Young, E-mail: myahn74@nfri.re.kr [National Fusion Research Institute, Daejeon (Korea, Republic of); Cho, Seungyon [National Fusion Research Institute, Daejeon (Korea, Republic of); Jin, Hyung Gon; Lee, Dong Won [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Park, Yi-Hyun; Lee, Youngmin [National Fusion Research Institute, Daejeon (Korea, Republic of)

    2015-10-15

    Highlights: • Postulated initiating events are identified through failure modes and effects analysis on the current HCCR TBS design. • A set of postulated initiating events are selected for consideration of deterministic analysis. • Accident evolutions on the selected postualted initiating events are qualitatively described for deterministic analysis. - Abstract: Korean Helium cooled ceramic reflector (HCCR) Test blanket system (TBS), which comprises Test blanket module (TBM) and ancillary systems in various locations of ITER building, is operated at high temperature and pressure with decay heat. Therefore, safety is utmost concern in design process and it is required to demonstrate that the HCCR TBS is designed to comply with the safety requirements and guidelines of ITER. Due to complexity of the system with many interfaces with ITER, a systematic approach is necessary for safety analysis. This paper presents preliminary failure modes and effects analysis (FMEA) study performed for the HCCR TBS. FMEA is a systematic methodology in which failure modes for components in the system and their consequences are studied from the bottom-up. Over eighty failure modes have been investigated on the HCCR TBS. The failure modes that have similar consequences are grouped as postulated initiating events (PIEs) and total seven reference accident scenarios are derived from FMEA study for deterministic accident analysis. Failure modes not covered here due to evolving design of the HCCR TBS and uncertainty in maintenance procedures will be studied further in near future.

  1. Genetic analysis of a congenital nephrogenic diabetes insipidus pedigree

    Institute of Scientific and Technical Information of China (English)

    Shen Yunfeng; Lai Xiaoyang; Xiao Xinlan; Li Jing; Yu Rong; Gao Hui; Zhang Meiying

    2014-01-01

    Background As an X-linked recessive way,arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease-congenital nephrogenic diabetes insipidus (CNDI).We found a suspect clinical CNDI pedigree.In order to identify the genetic etiology,we performed the genetic analysis.Methods The clinical features of the proband and his family members were recorded.The laboratory tests and imaging inspections were analyzed.The water deprivation and pituitrin loading test were performed in the proband and his brother.The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out.Sequencing in both directions was performed to identify mutation on AVPR2 gene.Results Both the proband and his brother were diagnosed as CNDI,meanwhile the other members of this pedigree were normal.No severe biochemical abnormality was found in the two CNDI patients.Both the patients had moderate urinary retention,severe megaloureter and hydronephrosis,and mild renal insufficiency.Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients,a silent mutation L309L and a nonsense mutation R337X.The AVPR2 gene R337X mutation was co-segregated with CNDI.R337X mutation was not a reported mutation in the mainland of China.Conclusion The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China.

  2. Expression, purification, crystallization and preliminary crystallographic analysis of the proliferation-associated protein Ebp1

    Energy Technology Data Exchange (ETDEWEB)

    Kowalinski, Eva; Bange, Gert; Wild, Klemens; Sinning, Irmgard, E-mail: irmi.sinning@bzh.uni-heidelberg.de [Heidelberg University Biochemistry Center, INF 328, D-69120 Heidelberg (Germany)

    2007-09-01

    Preliminary X-ray analysis of the proliferation-associated protein Ebp1 from Homo sapiens is provided. ErbB-3-binding protein 1 (Ebp1) is a member of the family of proliferation-associated 2G4 proteins (PA2G4s) and plays a role in cellular growth and differentiation. Ligand-induced activation of the transmembrane receptor ErbB3 leads to dissociation of Ebp1 from the receptor in a phosphorylation-dependent manner. The non-associated protein is involved in transcriptional and translational regulation in the cell. Here, the overexpression, purification, crystallization and preliminary crystallographic studies of Ebp1 from Homo sapiens are reported. Initially observed crystals were improved by serial seeding to single crystals suitable for data collection. The optimized crystals belong to the tetragonal space group P4{sub 1}2{sub 1}2 or P4{sub 3}2{sub 1}2 and diffracted to a resolution of 1.6 Å.

  3. NGS meta data analysis for identification of SNP and INDEL patterns in human airway transcriptome: A preliminary indicator for lung cancer

    Directory of Open Access Journals (Sweden)

    Sathya B.

    2015-03-01

    Full Text Available High-throughput sequencing of RNA (RNA-Seq was developed primarily to analyze global gene expression in different tissues. It is also an efficient way to discover coding SNPs and when multiple individuals with different genetic backgrounds were used, RNA-Seq is very effective for the identification of SNPs. The objective of this study was to perform SNP and INDEL discoveries in human airway transcriptome of healthy never smokers, healthy current smokers, smokers without lung cancer and smokers with lung cancer. By preliminary comparative analysis of these four data sets, it is expected to get SNP and INDEL patterns responsible for lung cancer. A total of 85,028 SNPs and 5738 INDELs in healthy never smokers, 32,671 SNPs and 1561 INDELs in healthy current smokers, 50,205 SNPs and 3008 INDELs in smokers without lung cancer and 51,299 SNPs and 3138 INDELs in smokers with lung cancer were identified. The analysis of the SNPs and INDELs in genes that were reported earlier as differentially expressed was also performed. It has been found that a smoking person has SNPs at position 62,186,542 and 62,190,293 in SCGB1A1 gene and 180,017,251, 180,017,252, and 180,017,597 in SCGB3A1 gene and INDELs at position 35,871,168 in NFKBIA gene and 180,017,797 in SCGB3A1 gene. The SNPs identified in this study provides a resource for genetic studies in smokers and shall contribute to the development of a personalized medicine. This study is only a preliminary kind and more vigorous data analysis and wet lab validation are required.

  4. SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS

    Directory of Open Access Journals (Sweden)

    Dewi Rusnita

    2015-05-01

    Full Text Available AbstrakSingle Nucleotide Polymorphism (SNP merupakan variasi genetik yang ditemukan pada lebih dari 1% populasi. Haplotipe, yang merupakan sekelompok SNP atau alel dalam satu kromosom, dapat di turunkan ke generasi selanjutnya dan dapat digunakan untuk menelusuri gen penyebab penyakit (marker genetik. Artikel ini bertujuan menjelaskan aplikasi analisis SNP dalam diagnosis beberapa sindrom yang disebabkan gangguan genetik. Berdasarkan laporan studi terdahulu, sindrom yang disebabkan oleh UPD (uniparental disomy maupun penyakit autosomal resesif yang muncul sebagai akibat perkawinan sedarah dapat dideteksi dengan SNP array melalui analisis block of homozygosity dalam kromosom. Kelebihan lain SNP array adalah kemampuannya dalam mendeteksi mosaicism level rendah yang tidak terdeteksi dengan pemeriksaan sitogenetik konvensional. Bahkan saat ini, SNP array sedang diujicobakan dalam IVF untuk mendapatkan bayi yang sehat. Hal ini dapat dilakukan dengan mendeteksi ada atau tidaknya gen tunggal penyebab penyakit pada embrio hasil bayi tabung sebelum embrio ditanamkan ke uterus. Analisis SNP dengan SNP array mempunyai banyak kelebihan dibanding metode pemeriksaan SNP lainnya dan diharapkan dapat digunakan secara luas dalam bidang diagnostik molekuler genetik di masa mendatang.AbstractSingle Nucleotide Polymorphism (SNP is a genetic variant with a frequency of >1% of a large population. Haplotypes, a combination of a set of SNPs/alleles that appear as “associated blocks” on one chromosome, tend to be inherited together to the next offspring and can be used as genetic markers to trace particular diseases. This article aimed at explaining of SNP analysis application in diagnosis of genetic-disorder related syndrome. Previous studies showed that syndromes caused by UPD or autosomal recessive disorder as a result of consanguineous marriage can be identified by SNP array through analysing block of homozygosity region in a chromosome. Another advantage of SNP

  5. Genetic analysis of processed in-line mastitis indicator data

    DEFF Research Database (Denmark)

    Sørensen, Lars Peter; Løvendahl, Peter

    2013-01-01

    on exponential smoothing of the SCC values followed by factor analysis for estimation of the latent variable EMR was used. Finally, EMR was expressed as a continuum on the interval [0;1] using sigmoid transformation. Thus, an EMR value close to zero indicates low risk of mastitis and a value close to one...... indicates high risk of mastitis. The EMR values were summarized for each cow using the log-transformed median EMR. A second trait was defined as the median of the log-transformed SCC values from 5 to 305 d in milk. A bivariate animal model was used for estimation of co-variance components for the 2 traits....... The fixed part of the model included herd and parity. Estimates of heritability were 0.08 (SE = 0.04) and 0.14 (SE = 0.05) for EMR and SCC, respectively. The genetic correlation between the 2 traits was 0.97 (SE = 0.08). The high genetic correlation indicates that the 2 traits are influenced by common genes...

  6. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity.

    Science.gov (United States)

    Papanikolaou, G; Politou, M; Terpos, E; Fourlemadis, S; Sakellaropoulos, N; Loukopoulos, D

    2000-04-01

    Hereditary hemochromatosis (HH) is common among Caucasians; reported disease frequencies vary from 0.3 to 0.8%. Identification of a candidate HFE gene in 1996 was soon followed by the description of two ancestral mutations, i.e., c.845G-->A (C282Y) and c.187C-->G (H63D). To these was recently added the mutation S65C, which may represent a simple polymorphism. The incidence of HH in Greece is unknown but clinical cases are rare. Also unknown is the carrier frequency of the two mutant alleles. A first estimate of the latter is given in the present report. It is based on data from the genetic analysis of 10 unrelated patients of Greek origin who were referred to our center for genotyping and 158 unselected male blood donors. The allele frequencies for the C282Y and H63D mutations were 0.003 and 0.145, respectively. The C282Y allele was detected in 50% of HH patients. This is considerably lower than the frequencies reported for HH patients in the U.S.A. (82%) and France (91 %) and closer to that reported in Italy (64%). Five patients did not carry any known HFE mutation; three may represent cases of juvenile hemochromatosis, given their early onset with iron overload, hypogonadism, and heart disease. We suggest that genetic heterogeneity is more prominent in Southern Europe. It is also possible that the penetrance of the responsible genes is different across the Mediterranean.

  7. 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...

  8. Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    NARCIS (Netherlands)

    Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger; Schulz, Herbert; de Kovel, Carolien G.; Trenite, Dorothee Kasteleijn-Nolst; Sonsma, Anja C. M.; Koeleman, Bobby P.; Lindhout, Dick; Weber, Yvonne G.; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Surges, Rainer; Elger, Christian E.; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M.; Rosenow, Felix; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Moller, Rikke S.; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nuernberg, Peter; Sander, Thomas

    2015-01-01

    Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (>= 400 kb) and rare (= 200

  9. Genetic analysis of seed development in Arabidopsis thaliana.

    NARCIS (Netherlands)

    Léon-Kloosterziel, K.M.

    1997-01-01

    This thesis deals with the genetic aspects of seed development in Arabidopsisthaliana. Mutants affected in several aspects of seed development and, more specifically, in seed maturation have been isolated by various selection procedures. The mutants have been analyzed genetically, physiologically,

  10. Genetic diversity analysis of some exotic, Indian and mutant ...

    African Journals Online (AJOL)

    USER

    2010-06-28

    Jun 28, 2010 ... Genetic make-up of Brassica crops has been playing a major contributory role towards its enhanced ... morphological and biochemical characteristics. The .... The genetic associations between genotypes were evaluated by.

  11. Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.

    Directory of Open Access Journals (Sweden)

    Fumiko Hoeft

    Full Text Available In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome consisting of three different patterns of deletions, compared to typical WS and typically developing (TD individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1 GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2 the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3 the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

  12. Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.

    Science.gov (United States)

    Hoeft, Fumiko; Dai, Li; Haas, Brian W; Sheau, Kristen; Mimura, Masaru; Mills, Debra; Galaburda, Albert; Bellugi, Ursula; Korenberg, Julie R; Reiss, Allan L

    2014-01-01

    In this study of eight rare atypical deletion cases with Williams-Beuren syndrome (WS; also known as 7q11.23 deletion syndrome) consisting of three different patterns of deletions, compared to typical WS and typically developing (TD) individuals, we show preliminary evidence of dissociable genetic contributions to brain structure and human cognition. Univariate and multivariate pattern classification results of morphometric brain patterns complemented by behavior implicate a possible role for the chromosomal region that includes: 1) GTF2I/GTF2IRD1 in visuo-spatial/motor integration, intraparietal as well as overall gray matter structures, 2) the region spanning ABHD11 through RFC2 including LIMK1, in social cognition, in particular approachability, as well as orbitofrontal, amygdala and fusiform anatomy, and 3) the regions including STX1A, and/or CYLN2 in overall white matter structure. This knowledge contributes to our understanding of the role of genetics on human brain structure, cognition and pathophysiology of altered cognition in WS. The current study builds on ongoing research designed to characterize the impact of multiple genes, gene-gene interactions and changes in gene expression on the human brain.

  13. Darwin Meets Einstein: LISA Data Analysis Using Genetic Algorithms

    CERN Document Server

    Crowder, J; Reddinger, L; Cornish, Neil J.; Crowder, Jeff; Reddinger, Lucas

    2006-01-01

    This work presents the first application of the method of Genetic Algorithms (GAs) to data analysis for the Laser Interferometer Space Antenna (LISA). In the low frequency regime of the LISA band there are expected to be tens of thousands galactic binary systems that will be emitting gravitational waves detectable by LISA. The challenge of parameter extraction of such a large number of sources in the LISA data stream requires a search method that can efficiently explore the large parameter spaces involved. As signals of many of these sources will overlap, a global search method is desired. GAs represent such a global search method for parameter extraction of multiple overlapping sources in the LISA data stream. We find that GAs are able to correctly extract source parameters for overlapping sources. Several optimizations of a basic GA are presented with results derived from applications of the GA searches to simulated LISA data.

  14. Genetic analysis of the cytoplasmic dynein subunit families.

    Directory of Open Access Journals (Sweden)

    K Kevin Pfister

    2006-01-01

    Full Text Available Cytoplasmic dyneins, the principal microtubule minus-end-directed motor proteins of the cell, are involved in many essential cellular processes. The major form of this enzyme is a complex of at least six protein subunits, and in mammals all but one of the subunits are encoded by at least two genes. Here we review current knowledge concerning the subunits, their interactions, and their functional roles as derived from biochemical and genetic analyses. We also carried out extensive database searches to look for new genes and to clarify anomalies in the databases. Our analysis documents evolutionary relationships among the dynein subunits of mammals and other model organisms, and sheds new light on the role of this diverse group of proteins, highlighting the existence of two cytoplasmic dynein complexes with distinct cellular roles.

  15. Caprine plasma proteinase inhibitors--II. Genetic analysis.

    Science.gov (United States)

    Vankan, D M; Bell, K

    1993-01-01

    1. Analysis of the inheritances of the variants of five caprine plasma proteinase inhibitor systems in families demonstrated a genetic control of codominant alleles at five loci. 2. The PIA, B, C, D and E proteins are controlled by four (PIA1,2,3,4), three (PIB1,4,0), three (PIC2,3,0), five (PID1,2,3,4,0) and two (PIE1,2) alleles respectively. Null alleles were postulated for the PIB, PIC and PID systems. 3. The frequencies of the alleles differed substantially between the Australian and Texan Angoras and Cashmere breeds of goats. 4. The combined exclusion probability for the five PI systems was as high as 0.82 in the Cashmere breed, indicating the potential of the proteinase inhibitor proteins for parentage control purposes.

  16. Analysis of malaria parasite phenotypes using experimental genetic crosses of Plasmodium falciparum

    OpenAIRE

    Ranford-Cartwright, Lisa C; Mwangi, Jonathan M.

    2012-01-01

    We review the principles of linkage analysis of experimental genetic crosses and their application to Plasmodium falciparum. Three experimental genetic crosses have been performed using the human malaria parasite P. falciparum. Linkage analysis of the progeny of these crosses has been used to identify parasite genes important in phenotypes such as drug resistance, parasite growth and virulence, and transmission to mosquitoes. The construction and analysis of genetic maps has been used to char...

  17. Purification, crystallization and preliminary X-ray diffraction analysis of the CBS-domain pair from the Methanococcus jannaschii protein MJ0100

    Science.gov (United States)

    Lucas, María; Kortazar, Danel; Astigarraga, Egoitz; Fernández, José A.; Mato, Jose M.; Martínez-Chantar, María Luz; Martínez-Cruz, Luis Alfonso

    2008-01-01

    CBS domains are small protein motifs consisting of a three-stranded β-sheet and two α-helices that are present in proteins of all kingdoms of life and in proteins with completely different functions. Several genetic diseases in humans have been associated with mutations in their sequence, which has made them promising targets for rational drug design. The C-terminal domain of the Methanococcus jannaschii protein MJ0100 includes a CBS-domain pair and has been overexpressed, purified and crystallized. Crystals of selenomethionine-substituted (SeMet) protein were also grown. The space group of both the native and SeMet crystals was determined to be orthorhombic P212121, with unit-cell parameters a = 80.9, b = 119.5, c = 173.3 Å. Preliminary analysis of the X-ray data indicated that there were eight molecules per asymmetric unit in both cases. PMID:18931440

  18. Genetic Analysis of Mice Skin Exposed by Hyper-Gravity

    Science.gov (United States)

    Takahashi, Rika; Terada, Masahiro; Seki, Masaya; Higashibata, Akira; Majima, Hideyuki J.; Ohira, Yoshinobu; Mukai, Chiaki; Ishioka, Noriaki

    2013-02-01

    In the space environment, physiological alterations, such as low bone density, muscle weakness and decreased immunity, are caused by microgravity and cosmic radiation. On the other hand, it is known that the leg muscles are hypertrophy by 2G-gravity. An understanding of the effects on human body from microgravity to hyper-gravity is very important. Recently, the Japan Aerospace Exploration Agency (JAXA) has started a project to detect the changes on gene expression and mineral metabolism caused by microgravity by analyzing the hair of astronauts who stay in the international Space Station (ISS) for a long time. From these results of human hair’s research, the genetic effects of human hair roots by microgravity will become clear. However, it is unclear how the gene expression of hair roots was effected by hypergravity. Therefore, in this experiment, we analyzed the effect on mice skin contained hair roots by comparing microgravity or hypergravity exposed mice. The purpose of this experiment is to evaluate the genetic effects on mice skin by microgravity or 2G-gravity. The samples were taken from mice exposed to space flight (FL) or hypergravity environment (2G) for 3-months, respectively. The extracted and amplified RNA from these mice skin was used to DNA microarray analysis. in this experiment, we analyzed the effect of gravity by using mice skin contained hair roots, which exposed space (FL) and hyper-gravity (2G) for 3 months and each control. By DNA microarray analysis, we found the common 98 genes changed in both FL and 2G. Among these 98 genes, the functions and pathways were identified by Gene Ontology (GO) analysis and Ingenuity Pathways Analysis (IPA) software. Next, we focused the one of the identified pathways and compared the effects on each molecules in this pathways by the different environments, such as FL and 2G. As the results, we could detect some interesting molecules, which might be depended on the gravity levels. In addition, to investigate

  19. Crystallization and preliminary X-ray analysis of alginate importer from Sphingomonas sp. A1.

    Science.gov (United States)

    Maruyama, Yukie; Itoh, Takafumi; Nishitani, Yu; Mikami, Bunzo; Hashimoto, Wataru; Murata, Kousaku

    2012-03-01

    Sphingomonas sp. A1 directly incorporates alginate polysaccharides through a 'superchannel' comprising a pit on the cell surface, alginate-binding proteins in the periplasm and an ABC transporter (alginate importer) in the inner membrane. Alginate importer, consisting of four subunits, AlgM1, AlgM2 and two molecules of AlgS, was crystallized in the presence of the binding protein AlgQ2. Preliminary X-ray analysis showed that the crystal diffracted to 3.3 Å resolution and belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 72.5, b = 136.8, c = 273.3 Å, suggesting the presence of one complex in the asymmetric unit.

  20. ANSI/ASHRAE/IES Standard 90.1-2013 Preliminary Determination: Qualitative Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Halverson, Mark A.; Hart, Reid; Athalye, Rahul A.; Rosenberg, Michael I.; Richman, Eric E.; Winiarski, David W.

    2014-03-01

    Section 304(b) of the Energy Conservation and Production Act (ECPA), as amended, requires the Secretary of Energy to make a determination each time a revised version of ASHRAE Standard 90.1 is published with respect to whether the revised standard would improve energy efficiency in commercial buildings. When the U.S. Department of Energy (DOE) issues an affirmative determination on Standard 90.1, states are statutorily required to certify within two years that they have reviewed and updated the commercial provisions of their building energy code, with respect to energy efficiency, to meet or exceed the revised standard. This report provides a preliminary qualitative analysis of all addenda to ANSI/ASHRAE/IES Standard 90.1-2010 (referred to as Standard 90.1-2010 or 2010 edition) that were included in ANSI/ASHRAE/IES Standard 90.1-2013 (referred to as Standard 90.1-2013 or 2013 edition).

  1. Crystallization and preliminary X-ray analysis of Rv1674c from Mycobacterium tuberculosis

    Science.gov (United States)

    Li, Jincheng; Wang, Xudong; Gong, Weimin; Niu, Chunyan; Zhang, Min

    2015-01-01

    Adaptations to hypoxia play an important role in Mycobacterium tuberculosis pathogenesis. Rv0324, which contains an HTH DNA-binding domain and a rhodanese domain, is one of the key transcription regulators in response to hypoxia. M. tuberculosis Rv1674c is a homologue of Rv0324. To understand the interdomain interaction and regulation of the HTH domain and the rhodanese domain, recombinant Rv1674c protein was purified and crystallized by the vapour-diffusion method. The crystals diffracted to 2.25 Å resolution. Preliminary diffraction analysis suggests that the crystals belonged to space group P3121 or P3221, with unit-cell parameters a = b = 67.8, c = 174.5 Å, α = β = 90, γ = 120°. The Matthews coefficient was calculated to be 2.44 Å3 Da−1, assuming that the crystallographic asymmetric unit contains two protein molecules. PMID:25760714

  2. Preliminary phytochemical analysis, antibacterial, antifungal and anticandidal activities of successive extracts of Crossandra infundibuliformis

    Institute of Scientific and Technical Information of China (English)

    MadhumithaG; SaralAM

    2011-01-01

    Objective:To investigate the phytochemical, antibacterial, antifungal and anticandidal activity of successive extracts of Crossandra infundibuliformis (Acanthaceae) leaves. Methods:Preliminary screening on the presence of alkaloids, saponins, phytosterols, phenolic compounds, flavanoids, tannins, carbohydrates, terpenoids, oils and fats were carried out by phytochemical analysis. The antibacterial, antifungal and anticandidal activities were done by agar well diffusion technique. Results:The successive extracts have an array of chemical constituents and the MIC values of antibacterial activity ranges from 0.007 8 to 0.015 0μg/mL. In case of antifungal and anticandidal activities the MIC values were between 0.125 and 0.250μg/mL. Conclusions:These findings demonstrate that the leaf extracts of C. infundibuliformis presents excellent antimicrobial activities and thus have great potential as a source for natural health care products.

  3. Preliminary C3 Loading Analysis for Future High-Altitude Unmanned Aircraft in the NAS

    Science.gov (United States)

    Ho, Yan-Shek; Gheorghisor, Izabela; Box, Frank

    2006-01-01

    This document provides a preliminary assessment and summary of the command, control, and communications (C(sup 3)) loading requirements of a generic future high-altitude, long-endurance unmanned aircraft (UA) operating at in the National Airspace System. Two principal types of C(sup 3) traffic are considered in our analysis: communications links providing air traffic services (ATS) to the UA and its human pilot, and the command and control data links enabling the pilot to operate the UA remotely. we have quantified the loading requirements of both types of traffic for two different assumed levels of UA autonomy. Our results indicate that the potential use of UA-borne relays for the ATS links, and the degree of autonomy exercised by the UA during the departure and arrival phases of its flight, will be among the key drivers of C(sup 3) loading and bandwidth requirements.

  4. Visual Assessment on Coastal Cruise Tourism: A Preliminary Planning Using Importance Performance Analysis

    Science.gov (United States)

    Trisutomo, S.

    2017-07-01

    Importance-Performance Analysis (IPA) has been widely applied in many cases. In this research, IPA was applied to measure perceive on coastal tourism objects and its possibility to be developed as coastal cruise tourism in Makassar. Three objects, i.e. Akkarena recreational site, Losari public space at waterfront, and Paotere traditional Phinisi ships port, were selected and assessed visually from water area by a group of purposive resource persons. The importance and performance of 10 attributes of each site were scored using Likert scale from 1 to 5. Data were processed by SPSS-21 than resulted Cartesian graph which the scores were divided in four quadrants: Quadrant I concentric here, Quadrant II keep up the good work, Quadrant III low priority, and Quadrant IV possible overkill. The attributes in each quadrant could be considered as the platform for preliminary planning of coastal cruise tour in Makassar

  5. Preliminary control system design and analysis for the Space Station Furnace Facility thermal control system

    Science.gov (United States)

    Jackson, M. E.

    1995-01-01

    This report presents the Space Station Furnace Facility (SSFF) thermal control system (TCS) preliminary control system design and analysis. The SSFF provides the necessary core systems to operate various materials processing furnaces. The TCS is defined as one of the core systems, and its function is to collect excess heat from furnaces and to provide precise cold temperature control of components and of certain furnace zones. Physical interconnection of parallel thermal control subsystems through a common pump implies the description of the TCS by coupled nonlinear differential equations in pressure and flow. This report formulates the system equations and develops the controllers that cause the interconnected subsystems to satisfy flow rate tracking requirements. Extensive digital simulation results are presented to show the flow rate tracking performance.

  6. Acanthamoeba polyphaga mimivirus NDK: preliminary crystallographic analysis of the first viral nucleoside diphosphate kinase.

    Science.gov (United States)

    Jeudy, Sandra; Coutard, Bruno; Lebrun, Régine; Abergel, Chantal

    2005-06-01

    The complete sequence of the largest known double-stranded DNA virus, Acanthamoeba polyphaga mimivirus, has recently been determined [Raoult et al. (2004), Science, 306, 1344-1350] and revealed numerous genes not expected to be found in a virus. A comprehensive structural and functional study of these gene products was initiated [Abergel et al. (2005), Acta Cryst. F61, 212-215] both to better understand their role in the virus physiology and to obtain some clues to the origin of DNA viruses. Here, the preliminary crystallographic analysis of the viral nucleoside diphosphate kinase protein is reported. The crystal belongs to the cubic space group P2(1)3, with unit-cell parameter 99.425 A. The self-rotation function confirms that there are two monomers per asymmetric unit related by a twofold non-crystallographic axis and that the unit cell thus contains four biological entities.

  7. Preliminary analysis of habitat utilization by woodland caribou in northwestern Ontario using satellite telemetry

    Directory of Open Access Journals (Sweden)

    T.L. Hillis

    1998-03-01

    Full Text Available Locational data collected over a one year period from 10 female woodland caribou, Rangifer tarandus caribou, collared with Argos satellite collars in northwestern Ontario, Canada were superimposed on supervised Landsat images using Geographical Information System (GIS technology. Landscape parameters, land cover classifications, and drainage were utilized to create the basemap. Using ARCVIEW software, all digital fixes from collared caribou with information of date, time, and activity status were overlain on the basemap to facilitate a preliminary analysis of habitat use in this species. Results supported the conclusions (1 that woodland caribou in northwestern Ontario select habitats containing high to moderate conifer cover and avoided disturbed areas and shrub-rich habitats, (2 that seasonal changes in habitat utilization occurs in females of this species, and (3 that satellite telemetry technology can be employed in the boreal forest ecosystem to assess habitat utilization by large ungulate species.

  8. Crystallization and preliminary X-ray analysis of Leishmania major glyoxalase I

    Energy Technology Data Exchange (ETDEWEB)

    Ariza, Antonio; Vickers, Tim J.; Greig, Neil; Fairlamb, Alan H.; Bond, Charles S., E-mail: c.s.bond@dundee.ac.uk [Division of Biological Chemistry and Molecular Microbiology, Wellcome Trust Biocentre, School of Life Sciences, University of Dundee, Dundee DD1 5EH,Scotland (United Kingdom)

    2005-08-01

    The detoxification enzyme glyoxalase I from L. major has been crystallized. Preliminary molecular-replacement calculations indicate the presence of three glyoxalase I dimers in the asymmetric unit. Glyoxalase I (GLO1) is a putative drug target for trypanosomatids, which are pathogenic protozoa that include the causative agents of leishmaniasis. Significant sequence and functional differences between Leishmania major and human GLO1 suggest that it may make a suitable template for rational inhibitor design. L. major GLO1 was crystallized in two forms: the first is extremely disordered and does not diffract, while the second, an orthorhombic form, produces diffraction to 2.0 Å. Molecular-replacement calculations indicate that there are three GLO1 dimers in the asymmetric unit, which take up a helical arrangement with their molecular dyads arranged approximately perpendicular to the c axis. Further analysis of these data are under way.

  9. Cognitive Work Analysis: Preliminary Data for a Model of Problem Solving Strategies

    Science.gov (United States)

    Rothmayer, Mark; Blue, Jennifer

    2007-10-01

    Investigations into problem solving strategies are part of the field of physics education research where investigators seek to improve physics instruction by conducting basic research of problem solving abilities among students, differences in knowledge representations between experts and novices, and how to transfer knowledge structures more effectively onto novices. We developed a new conceptual research tool in our laboratory, where we could potentially map the step by step flow of problem solving strategies among experts and novices. This model is derived from the theory of Cognitive Work Analysis, which is grounded in ecological psychology, and as far as we know it has never been applied to a knowledge domain like physics. We collected survey data from 140 undergraduates enrolled in an algebra based introductory physics course at Miami University as part of a larger study aimed to test the validity of the model. Preliminary data will be presented and discussed.

  10. Preliminary risk analysis applied to the transmission of Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Bertrand, E; Schlatter, J

    2011-01-01

    Transmissible spongiform encephalopathy (TSE) is a degenerative disease of the central nervous system. As yet, there is no human screening test and no effective treatment. This disease is invariably fatal. General preventive measures are therefore essential. The objective of this study is to analyze and address on a prioritized basis the risks relating to the transmission of Creutzfeldt-Jakob disease during surgical operations by means of a preliminary risk analysis (PRA). The PRA produces 63 scenarios with maximum risk relating to operational and legal dangers. The study recommends a number of courses of action, such as training and internal controls, in order to reduce the risks identified. A procedure has been drawn up and assessed for each action. This PRA makes it possible to target and significantly reduce the potential dangers for transmission of Creutzfeldt-Jakob disease through the use of medical instruments.

  11. Purification, crystallization and preliminary X-ray analysis of uridine phosphorylase from Salmonella typhimurium.

    Science.gov (United States)

    Dontsova, Mariya V; Savochkina, Yulia A; Gabdoulkhakov, Azat G; Baidakov, Sergey N; Lyashenko, Andrey V; Zolotukhina, Maria; Errais Lopes, Liubov; Garber, Mariya B; Morgunova, Ekaterina Yu; Nikonov, Stanislav V; Mironov, Alexandr S; Ealick, Steven E; Mikhailov, Al 'Bert M

    2004-04-01

    The structural udp gene encoding uridine phosphorylase (UPh) was cloned from the Salmonella typhimurium chromosome and overexpressed in Escherichia coli cells. S. typhimurium UPh (StUPh) was purified to apparent homogeneity and crystallized. The primary structure of StUPh has high homology to the UPh from E. coli, but the enzymes differ substantially in substrate specificity and sensitivity to the polarity of the medium. Single crystals of StUPh were grown using hanging-drop vapor diffusion with PEG 8000 as the precipitant. X-ray diffraction data were collected to 2.9 A resolution. Preliminary analysis of the diffraction data indicated that the crystal belonged to space group P6(1(5)), with unit-cell parameters a = 92.3, c = 267.5 A. The solvent content is 37.7% assuming the presence of one StUPh hexamer per asymmetric unit.

  12. Crystallization and preliminary X-ray diffraction analysis of West Nile virus

    Energy Technology Data Exchange (ETDEWEB)

    Kaufmann, Barbel; Plevka, Pavel; Kuhn, Richard J.; Rossmann, Michael G. (Purdue)

    2010-05-25

    West Nile virus, a human pathogen, is closely related to other medically important flaviviruses of global impact such as dengue virus. The infectious virus was purified from cell culture using polyethylene glycol (PEG) precipitation and density-gradient centrifugation. Thin amorphously shaped crystals of the lipid-enveloped virus were grown in quartz capillaries equilibrated by vapor diffusion. Crystal diffraction extended at best to a resolution of about 25 {angstrom} using synchrotron radiation. A preliminary analysis of the diffraction images indicated that the crystals had unit-cell parameters a {approx_equal} b {approx_equal} 480 {angstrom}, {gamma} = 120{sup o}, suggesting a tight hexagonal packing of one virus particle per unit cell.

  13. Preliminary performance analysis of the advanced pulse compression noise radar waveform

    Science.gov (United States)

    Govoni, Mark A.; Moyer, Lee R.

    2012-06-01

    Noise radar systems encounter target fluctuation behavior similar to that of conventional systems. For noise radar systems, however, the fluctuations are not only dictated by target composition and geometry, but also by the non-uniform power envelope of their random transmit signals. This third dependency is of interest and serves as the basis for the preliminary analysis conducted in this manuscript. General conclusions are drawn on the implications of having a random power envelope and the impacts it could have on both the transmit and receive processes. Using an advanced pulse compression noise (APCN) radar waveform as the constituent signal, a computer simulation aids in quantifying potential losses and the impacts they might have on the detection performance of a real radar system.

  14. Effect of genetic algorithm as a variable selection method on different chemometric models applied for the analysis of binary mixture of amoxicillin and flucloxacillin: A comparative study

    Science.gov (United States)

    Attia, Khalid A. M.; Nassar, Mohammed W. I.; El-Zeiny, Mohamed B.; Serag, Ahmed

    2016-03-01

    Different chemometric models were applied for the quantitative analysis of amoxicillin (AMX), and flucloxacillin (FLX) in their binary mixtures, namely, partial least squares (PLS), spectral residual augmented classical least squares (SRACLS), concentration residual augmented classical least squares (CRACLS) and artificial neural networks (ANNs). All methods were applied with and without variable selection procedure (genetic algorithm GA). The methods were used for the quantitative analysis of the drugs in laboratory prepared mixtures and real market sample via handling the UV spectral data. Robust and simpler models were obtained by applying GA. The proposed methods were found to be rapid, simple and required no preliminary separation steps.

  15. Preliminary Analysis of Aircraft Loss of Control Accidents: Worst Case Precursor Combinations and Temporal Sequencing

    Science.gov (United States)

    Belcastro, Christine M.; Groff, Loren; Newman, Richard L.; Foster, John V.; Crider, Dennis H.; Klyde, David H.; Huston, A. McCall

    2014-01-01

    Aircraft loss of control (LOC) is a leading cause of fatal accidents across all transport airplane and operational classes, and can result from a wide spectrum of hazards, often occurring in combination. Technologies developed for LOC prevention and recovery must therefore be effective under a wide variety of conditions and uncertainties, including multiple hazards, and their validation must provide a means of assessing system effectiveness and coverage of these hazards. This requires the definition of a comprehensive set of LOC test scenarios based on accident and incident data as well as future risks. This paper defines a comprehensive set of accidents and incidents over a recent 15 year period, and presents preliminary analysis results to identify worst-case combinations of causal and contributing factors (i.e., accident precursors) and how they sequence in time. Such analyses can provide insight in developing effective solutions for LOC, and form the basis for developing test scenarios that can be used in evaluating them. Preliminary findings based on the results of this paper indicate that system failures or malfunctions, crew actions or inactions, vehicle impairment conditions, and vehicle upsets contributed the most to accidents and fatalities, followed by inclement weather or atmospheric disturbances and poor visibility. Follow-on research will include finalizing the analysis through a team consensus process, defining future risks, and developing a comprehensive set of test scenarios with correlation to the accidents, incidents, and future risks. Since enhanced engineering simulations are required for batch and piloted evaluations under realistic LOC precursor conditions, these test scenarios can also serve as a high-level requirement for defining the engineering simulation enhancements needed for generating them.

  16. Genetic diversity in the Yangtze finless porpoise by RAPD analysis

    Institute of Scientific and Technical Information of China (English)

    He Shunping; Wang Ding; Wang Wei; Chen Daoquan; Zhao Qingzhong; Gong Weiming

    2005-01-01

    To estimate the genetic diversity in the Yangtze finless porpoise (Neophocaenaphocaenoides asiaeorientalis), the randomly amplified polymorphic DNA techniquewas applied to examine ten animals captured from the Yangtze River. Out of 20 arbitrary primers used in the experiment, seventeen produced clearly reproducible bged from 0.0986 to 0.5634. Compared with other cetacean populations, this genetic distance is quite low. Such a low genetic diversity suggests that this population may be suffering from reduced genetic variation, and be very fragile. More studiesare needed for understanding the basis for this apparent low genetic diversity and to help protect this endangered, unique population.

  17. Preliminary Safety Analysis Report for the Transuranic Storage Area Retrieval Enclosure at the Idaho National Engineering Laboratory. Revision 8

    Energy Technology Data Exchange (ETDEWEB)

    1993-03-01

    This Transuranic Storage Area Retrieval Enclosure Preliminary Safety Analysis Report was completed as required by DOE Order 5480.23. The purpose of this document is to construct a safety basis that supports the design and permits construction of the facility. The facility has been designed to the requirements of a Radioactive Solid Waste Facility presented in DOE Order 6430.1A.

  18. Yucca Mountain transportation routes: Preliminary characterization and risk analysis; Volume 2, Figures [and] Volume 3, Technical Appendices

    Energy Technology Data Exchange (ETDEWEB)

    Souleyrette, R.R. II; Sathisan, S.K.; di Bartolo, R. [Nevada Univ., Las Vegas, NV (United States). Transportation Research Center

    1991-05-31

    This report presents appendices related to the preliminary assessment and risk analysis for high-level radioactive waste transportation routes to the proposed Yucca Mountain Project repository. Information includes data on population density, traffic volume, ecologically sensitive areas, and accident history.

  19. Yucca Mountain transportation routes: Preliminary characterization and risk analysis; Volume 2, Figures [and] Volume 3, Technical Appendices

    Energy Technology Data Exchange (ETDEWEB)

    Souleyrette, R.R. II; Sathisan, S.K.; di Bartolo, R. [Nevada Univ., Las Vegas, NV (United States). Transportation Research Center

    1991-05-31

    This report presents appendices related to the preliminary assessment and risk analysis for high-level radioactive waste transportation routes to the proposed Yucca Mountain Project repository. Information includes data on population density, traffic volume, ecologically sensitive areas, and accident history.

  20. Waste Feed Delivery System Phase 1 Preliminary Reliability and Availability and Maintainability Analysis [SEC 1 and 2

    Energy Technology Data Exchange (ETDEWEB)

    CARLSON, A.B.

    1999-11-11

    The document presents updated results of the preliminary reliability, availability, maintainability analysis performed for delivery of waste feed from tanks 241-AZ-101 and 241-AN-105 to British Nuclear Fuels Limited, inc. under the Tank Waste Remediation System Privatization Contract. The operational schedule delay risk is estimated and contributing factors are discussed.

  1. Mendelian randomization analysis with multiple genetic variants using summarized data.

    Science.gov (United States)

    Burgess, Stephen; Butterworth, Adam; Thompson, Simon G

    2013-11-01

    Genome-wide association studies, which typically report regression coefficients summarizing the associations of many genetic variants with various traits, are potentially a powerful source of data for Mendelian randomization investigations. We demonstrate how such coefficients from multiple variants can be combined in a Mendelian randomization analysis to estimate the causal effect of a risk factor on an outcome. The bias and efficiency of estimates based on summarized data are compared to those based on individual-level data in simulation studies. We investigate the impact of gene-gene interactions, linkage disequilibrium, and 'weak instruments' on these estimates. Both an inverse-variance weighted average of variant-specific associations and a likelihood-based approach for summarized data give similar estimates and precision to the two-stage least squares method for individual-level data, even when there are gene-gene interactions. However, these summarized data methods overstate precision when variants are in linkage disequilibrium. If the P-value in a linear regression of the risk factor for each variant is less than 1×10⁻⁵, then weak instrument bias will be small. We use these methods to estimate the causal association of low-density lipoprotein cholesterol (LDL-C) on coronary artery disease using published data on five genetic variants. A 30% reduction in LDL-C is estimated to reduce coronary artery disease risk by 67% (95% CI: 54% to 76%). We conclude that Mendelian randomization investigations using summarized data from uncorrelated variants are similarly efficient to those using individual-level data, although the necessary assumptions cannot be so fully assessed. © 2013 WILEY PERIODICALS, INC.

  2. A preliminary assessment of using a white light confocal imaging profiler for cut mark analysis.

    Science.gov (United States)

    Schmidt, Christopher W; Moore, Christopher R; Leifheit, Randell

    2012-01-01

    White light confocal microscopy creates detailed 3D representations of microsurfaces that can be qualitatively and quantitatively analyzed. The study describes its application to the analysis of cut marks on bone, particularly when discerning cuts made by steel tools from those made by stone. The process described comes from a study where cuts were manually made on a cow rib with seven cutting tools, four stone (an unmodified chert flake, a chert biface, a bifacially ground slate fragment, and an unsharpened piece of slate), and three steel (a Swiss Army Knife, a serrate steak knife, and a serrate saw). Kerfs were magnified ×20 and 3D data clouds were generated using a Sensofar(®) White Light Confocal Profiler (WLCP). Kerf profiles and surface areas, volumes, mean depths, and maximum depths were calculated with proprietary software (SensoScan(®) and SolarMap(®)). For the most part, the stone tools make shallower and wider cuts. Kerf floors can be studied at higher magnifications; they were viewed at ×100. When comparing the kerf floors of the unsharpened slate and the serrate steak knife it was found that the slate floor was more uneven, but the serrate steak knife generated more overall relief. Although preliminary, the approach described here successfully distinguishes stone and steel tools; the authors conclude that the WLCP is a promising technology for cut mark analysis because of the very detailed 3D representations it creates and the numerous avenues of analysis it provides.

  3. Preliminary Drop Time Analysis of a Control Rod Using CFD Code

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Myoung Hwan; Park, Jin Seok; Lee, Won Jae [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of); Park, Jun Hong [SEST Co., Seoul (Korea, Republic of)

    2010-05-15

    A control rod drive mechanism (CRDM) is a reactor regulating system, which can insert and withdraw a control rod containing a neutron absorbing material to control the reactivity of the reactor core. The latch type CRDM for the SMART (System-integrated Modular Advanced ReacTor) is going to be used. The drop time of the control rod in the design stage is one of important parameters for a safety analysis of the reactor. When the control rod is falling down into the core, it is retarded by various forces acting on it such as fluid resistance buoyancy and mechanical friction caused by contacting the inner surface of the guide thimble, etc.. However, complicated coupling of the various forces makes it difficult to predict the drop behavior. This paper describes the development of the 3D CFD analysis model using a FLUENT code. The single control rod of the Westinghouse 17x17 type optimized fuel assembly (W-OFA) was considered for the verification of the CFD model. A preliminary drop time analysis for the SMART with the simulated control rod was performed

  4. Genetic mouse models for behavioral analysis through transgenic RNAi technology.

    Science.gov (United States)

    Delic, S; Streif, S; Deussing, J M; Weber, P; Ueffing, M; Hölter, S M; Wurst, W; Kühn, R

    2008-10-01

    Pharmacological inhibitors and knockout mice have developed into routine tools to analyze the role of specific genes in behavior. Both strategies have limitations like the availability of inhibitors for only a subset of proteins and the large efforts required to construct specific mouse mutants. The recent emergence of RNA interference (RNAi)-mediated gene silencing provides a fast alternative that can be applied to any coding gene. We established an approach for the efficient generation of transgenic knockdown mice by targeted insertion of short hairpin (sh) RNA vectors into a defined genomic locus and studied the efficiency of gene silencing in the adult brain and the utility of such mice for behavioral analysis. We generated shRNA knockdown mice for the corticotropin-releasing hormone receptor type 1 (Crhr1), the leucine-rich repeat kinase 2 (Lrkk2) and the purinergic receptor P2X ligand-gated ion channel 7 (P2rx7) genes and show the ubiquitous expression of shRNA and efficient suppression of the target mRNA and protein in the brain of young and 11-month-old knockdown mice. Knockdown mice for the Crhr1 gene exhibited decreased anxiety-related behavior, an impaired stress response, and thereby recapitulate the phenotype of CRHR1 knockout mice. Our results show the feasibility of gene silencing in the adult brain and validate knockdown mice as new genetic models suitable for behavioral analysis.

  5. Feature selection using genetic algorithms for fetal heart rate analysis.

    Science.gov (United States)

    Xu, Liang; Redman, Christopher W G; Payne, Stephen J; Georgieva, Antoniya

    2014-07-01

    The fetal heart rate (FHR) is monitored on a paper strip (cardiotocogram) during labour to assess fetal health. If necessary, clinicians can intervene and assist with a prompt delivery of the baby. Data-driven computerized FHR analysis could help clinicians in the decision-making process. However, selecting the best computerized FHR features that relate to labour outcome is a pressing research problem. The objective of this study is to apply genetic algorithms (GA) as a feature selection method to select the best feature subset from 64 FHR features and to integrate these best features to recognize unfavourable FHR patterns. The GA was trained on 404 cases and tested on 106 cases (both balanced datasets) using three classifiers, respectively. Regularization methods and backward selection were used to optimize the GA. Reasonable classification performance is shown on the testing set for the best feature subset (Cohen's kappa values of 0.45 to 0.49 using different classifiers). This is, to our knowledge, the first time that a feature selection method for FHR analysis has been developed on a database of this size. This study indicates that different FHR features, when integrated, can show good performance in predicting labour outcome. It also gives the importance of each feature, which will be a valuable reference point for further studies.

  6. Genetic Structure and Preliminary Findings of Cryptic Diversity of the Malaysian Mahseer (Tor tambroides Valenciennes: Cyprinidae Inferred from Mitochondrial DNA and Microsatellite Analyses

    Directory of Open Access Journals (Sweden)

    Yuzine Esa

    2013-01-01

    Full Text Available This study examines the population genetic structure of Tor tambroides, an important freshwater fish species in Malaysia, using fifteen polymorphic microsatellite loci and sequencing of 464 base pairs of the mitochondrial cytochrome c oxidase I (COI gene. A total of 152 mahseer samples were collected from eight populations throughout the Malaysia river system. Microsatellites results found high levels of intrapopulation variations, but mitochondrial COI results found high levels of interpopulations differentiation. The possible reasons for their discrepancies might be the varying influence of genetic drift on each marker or the small sample sizes used in most of the populations. The Kelantan population showed very low levels of genetic variations using both mitochondrial and microsatellite analyses. Phylogenetic analysis of the COI gene found a unique haplotype (ER8*, possibly representing a cryptic lineage of T. douronensis, from the Endau-Rompin population. Nevertheless, the inclusion of nuclear microsatellite analyses could not fully resolve the genetic identity of haplotype ER8* in the present study. Overall, the findings showed a serious need for more comprehensive and larger scale samplings, especially in remote river systems, in combination with molecular analyses using multiple markers, in order to discover more cryptic lineages or undescribed “genetic species” of mahseer.

  7. A Preliminary Analysis of Precipitation Properties and Processes during NASA GPM IFloodS

    Science.gov (United States)

    Carey, Lawrence; Gatlin, Patrick; Petersen, Walt; Wingo, Matt; Lang, Timothy; Wolff, Dave

    2014-01-01

    The Iowa Flood Studies (IFloodS) is a NASA Global Precipitation Measurement (GPM) ground measurement campaign, which took place in eastern Iowa from May 1 to June 15, 2013. The goals of the field campaign were to collect detailed measurements of surface precipitation using ground instruments and advanced weather radars while simultaneously collecting data from satellites passing overhead. Data collected by the radars and other ground instruments, such as disdrometers and rain gauges, will be used to characterize precipitation properties throughout the vertical column, including the precipitation type (e.g., rain, graupel, hail, aggregates, ice crystals), precipitation amounts (e.g., rain rate), and the size and shape of raindrops. The impact of physical processes, such as aggregation, melting, breakup and coalescence on the measured liquid and ice precipitation properties will be investigated. These ground observations will ultimately be used to improve rainfall estimates from satellites and in particular the algorithms that interpret raw data for the upcoming GPM mission's Core Observatory satellite, which launches in 2014. The various precipitation data collected will eventually be used as input to flood forecasting models in an effort to improve capabilities and test the utility and limitations of satellite precipitation data for flood forecasting. In this preliminary study, the focus will be on analysis of NASA NPOL (S-band, polarimetric) radar (e.g., radar reflectivity, differential reflectivity, differential phase, correlation coefficient) and NASA 2D Video Disdrometers (2DVDs) measurements. Quality control and processing of the radar and disdrometer data sets will be outlined. In analyzing preliminary cases, particular emphasis will be placed on 1) documenting the evolution of the rain drop size distribution (DSD) as a function of column melting processes and 2) assessing the impact of range on ground-based polarimetric radar estimates of DSD properties.

  8. Analysis of Optimization for Preliminary Design of Multi-Component Mooring Systems

    Institute of Scientific and Technical Information of China (English)

    YU Long; TAN Jia-hua

    2005-01-01

    Multi-component mooring systems become widely used in deep water position-keeping of drilling and production platforms. However, versatile materials make it difficult to design appropriate mooring lines made of several segments. Based on catenary equations of a multi-component mooring line at a specific water depth, this paper establishes a minimum model for designing this kind of lines. The model is solved by Genetic Algorithm and Multi-Objective Planning respectively. The model is verified by its application to a practical mooring design assignment-a quasi-static analysis for a large semi-submersible. The optimal result is finally obtained with the aid of design graphs.

  9. A preliminary study of genetic factors that influence susceptibility to bovine tuberculosis in the British cattle herd.

    Directory of Open Access Journals (Sweden)

    Erin E Driscoll

    Full Text Available Associations between specific host genes and susceptibility to Mycobacterial infections such as tuberculosis have been reported in several species. Bovine tuberculosis (bTB impacts greatly the UK cattle industry, yet genetic predispositions have yet to be identified. We therefore used a candidate gene approach to study 384 cattle of which 160 had reacted positively to an antigenic skin test ('reactors'. Our approach was unusual in that it used microsatellite markers, embraced high breed diversity and focused particularly on detecting genes showing heterozygote advantage, a mode of action often overlooked in SNP-based studies. A panel of neutral markers was used to control for population substructure and using a general linear model-based approach we were also able to control for age. We found that substructure was surprisingly weak and identified two genomic regions that were strongly associated with reactor status, identified by markers INRA111 and BMS2753. In general the strength of association detected tended to vary depending on whether age was included in the model. At INRA111 a single genotype appears strongly protective with an overall odds ratio of 2.2, the effect being consistent across nine diverse breeds. Our results suggest that breeding strategies could be devised that would appreciably increase genetic resistance of cattle to bTB (strictly, reduce the frequency of incidence of reactors with implications for the current debate concerning badger-culling.

  10. Analysis of the optimality of the standard genetic code.

    Science.gov (United States)

    Kumar, Balaji; Saini, Supreet

    2016-07-19

    Many theories have been proposed attempting to explain the origin of the genetic code. While strong reasons remain to believe that the genetic code evolved as a frozen accident, at least for the first few amino acids, other theories remain viable. In this work, we test the optimality of the standard genetic code against approximately 17 million genetic codes, and locate 29 which outperform the standard genetic code at the following three criteria: (a) robustness to point mutation; (b) robustness to frameshift mutation; and (c) ability to encode additional information in the coding region. We use a genetic algorithm to generate and score codes from different parts of the associated landscape, which are, as a result, presumably more representative of the entire landscape. Our results show that while the genetic code is sub-optimal for robustness to frameshift mutation and the ability to encode additional information in the coding region, it is very strongly selected for robustness to point mutation. This coupled with the observation that the different performance indicator scores for a particular genetic code are negatively correlated makes the standard genetic code nearly optimal for the three criteria tested in this work.

  11. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

    Science.gov (United States)

    Xing, Yanlin; Ichida, Fukiko; Matsuoka, Taro; Isobe, Takeshi; Ikemoto, Yumiko; Higaki, Takashi; Tsuji, Tohru; Haneda, Noriyuki; Kuwabara, Atsushi; Chen, Rui; Futatani, Takeshi; Tsubata, Shinichi; Watanabe, Sayaka; Watanabe, Kazuhiro; Hirono, Keiichi; Uese, Keiichiro; Miyawaki, Toshio; Bowles, Karla R; Bowles, Neil E; Towbin, Jeffrey A

    2006-05-01

    Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by numerous excessively trabeculations and deep intertrabecular recesses. This study was performed to investigate Japanese LVNC patients for disease-causing mutations in a series of selected candidate genes. DNA was isolated from the peripheral blood of 79 cases including 20 familial cases and 59 sporadic cases. DNA samples were screened for mutations in the genes encoding G4.5 (TAZ), alpha-dystrobrevin (DTNA), alpha1-syntrophin (SNTA1), FK506 Binding protein 1A (FKBP1A or FKPB12: FKBP1A), and LIM Domain Binding protein 3 (Cypher/ZASP: LDB3), using single-strand conformational polymorphism analysis and DNA sequencing. DNA variants were identified in 6 of the 79 cases, including four familial cases and two sporadic cases. A splice acceptor mutation of intron 8 in TAZ (IVS8-1G>C) was identified in one family with isolated LVNC, resulting in deletion of exon 9 from mRNA. In a sporadic case of isolated LVNC and Barth syndrome (BTHS), a 158insC in exon 2 of TAZ resulting in a frame-shift mutation was identified. A 1876G>A substitution changing an aspartic acid to asparagine (D626N) was identified in LDB3 in four members of two families with LVNC. A 163G>A polymorphism was identified in LDB3, which changed a valine to isoleucine (V55I) in one patient with isolated LVNC. In addition, in a family with nonisolated LVNC, a 362C>T mutation was identified in DTNA. LVNC, like other forms of inherited cardiomyopathy, is a genetically heterogeneous disease, associated with variable clinical symptoms and can be inherited as an autosomal or X-linked recessive disorder.

  12. The genetic correlation between cigarette smoking and alcohol drinking among Chinese adult male twins: an ordinal bivariate genetic analysis.

    Science.gov (United States)

    Zhang, Ting; Gao, Wenjing; Cao, Weihua; Zhan, Siyan; Lv, Jun; Pang, Zengchang; Wang, Shaojie; Chen, Rongfu; Hu, Yonghua; Li, Liming

    2012-08-01

    Though multiple policies have been implemented, the cigarette control in China is still facing a great challenge. At the same time, alcohol drinking has increasingly become a public health problem. Considering cigarette smoking and alcohol drinking often co-occur, a few studies tested the covariance of these phenotypes. However, the genetic and environmental correlation between them among Chinese population has not been determined. The main aim of this study is to fill this gap. From the Chinese National Twin Registry, we obtained the data on cigarette smoking and alcohol drinking behaviors. The ordinal bivariate genetic analysis was performed to fit the categorical variables. After identifying the best decomposition among the Cholesky, common, and independent pathway model, we established the most parsimonious submodel. The correlation between current tobacco and alcohol use could be explained by Cholesky model. The shared environmental variances for both phenotypes were dropped to construct the most parsimonious submodel. Furthermore, the most parsimonious submodel showed a moderate correlation (0.32, 95%CI=0.17-0.46) between the genetic components and a negligible non-shared environmental correlation. As the first bivariate genetic analysis on current tobacco smoking and current alcohol drinking in China, this study suggested a common genetic vulnerability to tobacco and alcohol use in male twins. Further studies should be carried out to track the pertinent genes that are related to the comorbidity of smoking and drinking in Chinese population. Another urgent need is to recognize the behavior-specific environmental risk factors.

  13. Preliminary analysis of Stearoyl Co-A Desaturase gene transcripts in River buffalo

    Directory of Open Access Journals (Sweden)

    L. Ramunno

    2010-02-01

    Full Text Available Stearoyl-CoA desaturase (SCD is a key enzyme in the biosynthesis of monounsaturated fatty acids (MUFAs. In cattle, SCD gene extends over a DNA segment of ~17.0 Kb, and it is organized in 6 exons and 5 introns. The SCD gene has been indicated as the candidate gene to change the saturated/unsaturated FAs ratio and hence it has been suggested as the gene influencing the fat quality. In cattle, eight SNPs have been identified and one of them, (T→C at 231st nt of 5th exon, is responsible for the Val→Ala amino acid change. The C allele has been associated with higher content of MUFAs in carcasses, and it is positively related to a higher index of desaturation (C18:0/C18:1 and C16:0/C16:1 in the milk. In this study, we report on preliminary results of analysis of transcripts of the SCD encoding gene in river buffalo. The electrophoretic analysis of the RT-PCR products and the subsequent sequencing showed at least five different populations of mRNA. The most represented population is correctly assembled (~1300 bp, followed by the one which is deleted of ~750bp, corresponding to the 3rd, 4th and 5th exon and partially to the 2nd and 6th exon.

  14. Biomarkers of Eating Disorders Using Support Vector Machine Analysis of Structural Neuroimaging Data: Preliminary Results.

    Science.gov (United States)

    Cerasa, Antonio; Castiglioni, Isabella; Salvatore, Christian; Funaro, Angela; Martino, Iolanda; Alfano, Stefania; Donzuso, Giulia; Perrotta, Paolo; Gioia, Maria Cecilia; Gilardi, Maria Carla; Quattrone, Aldo

    2015-01-01

    Presently, there are no valid biomarkers to identify individuals with eating disorders (ED). The aim of this work was to assess the feasibility of a machine learning method for extracting reliable neuroimaging features allowing individual categorization of patients with ED. Support Vector Machine (SVM) technique, combined with a pattern recognition method, was employed utilizing structural magnetic resonance images. Seventeen females with ED (six with diagnosis of anorexia nervosa and 11 with bulimia nervosa) were compared against 17 body mass index-matched healthy controls (HC). Machine learning allowed individual diagnosis of ED versus HC with an Accuracy ≥ 0.80. Voxel-based pattern recognition analysis demonstrated that voxels influencing the classification Accuracy involved the occipital cortex, the posterior cerebellar lobule, precuneus, sensorimotor/premotor cortices, and the medial prefrontal cortex, all critical regions known to be strongly involved in the pathophysiological mechanisms of ED. Although these findings should be considered preliminary given the small size investigated, SVM analysis highlights the role of well-known brain regions as possible biomarkers to distinguish ED from HC at an individual level, thus encouraging the translational implementation of this new multivariate approach in the clinical practice.

  15. Biomarkers of Eating Disorders Using Support Vector Machine Analysis of Structural Neuroimaging Data: Preliminary Results

    Directory of Open Access Journals (Sweden)

    Antonio Cerasa

    2015-01-01

    Full Text Available Presently, there are no valid biomarkers to identify individuals with eating disorders (ED. The aim of this work was to assess the feasibility of a machine learning method for extracting reliable neuroimaging features allowing individual categorization of patients with ED. Support Vector Machine (SVM technique, combined with a pattern recognition method, was employed utilizing structural magnetic resonance images. Seventeen females with ED (six with diagnosis of anorexia nervosa and 11 with bulimia nervosa were compared against 17 body mass index-matched healthy controls (HC. Machine learning allowed individual diagnosis of ED versus HC with an Accuracy ≥ 0.80. Voxel-based pattern recognition analysis demonstrated that voxels influencing the classification Accuracy involved the occipital cortex, the posterior cerebellar lobule, precuneus, sensorimotor/premotor cortices, and the medial prefrontal cortex, all critical regions known to be strongly involved in the pathophysiological mechanisms of ED. Although these findings should be considered preliminary given the small size investigated, SVM analysis highlights the role of well-known brain regions as possible biomarkers to distinguish ED from HC at an individual level, thus encouraging the translational implementation of this new multivariate approach in the clinical practice.

  16. The 6 April 2009 earthquake at L'Aquila: a preliminary analysis of magnetic field measurements

    Directory of Open Access Journals (Sweden)

    U. Villante

    2010-02-01

    Full Text Available Several investigations reported the possible identification of anomalous geomagnetic field signals prior to earthquake occurrence. In the ULF frequency range, candidates for precursory signatures have been proposed in the increase in the noise background and polarization parameter (i.e. the ratio between the amplitude/power of the vertical component and that one of the horizontal component, in the changing characteristics of the slope of the power spectrum and fractal dimension, in the possible occurrence of short duration pulses. We conducted, with conventional techniques of data processing, a preliminary analysis of the magnetic field observations performed at L'Aquila during three months preceding the 6 April 2009 earthquake, focusing attention on the possible occurrence of features similar to those identified in previous events. Within the limits of this analysis, we do not find compelling evidence for any of the features which have been proposed as earthquake precursors: indeed, most of aspects of our observations (which, in some cases, appear consistent with previous findings might be interpreted in terms of the general magnetospheric conditions and/or of different sources.

  17. Crystallization and preliminary X-ray diffraction analysis of human adenovirus

    Energy Technology Data Exchange (ETDEWEB)

    Reddy, V.S.; Natchiar, S.K.; Gritton, L.; Mullen, T.-M.; Stewart, P.L.; Nemerow, G.R. (Scripps); (Vanderbilt)

    2010-07-22

    Replication-defective and conditionally replicating adenovirus (AdV) vectors are currently being utilized in {approx}25% of human gene transfer clinical trials. Unfortunately, progress in vector development has been hindered by a lack of accurate structural information. Here we describe the crystallization and preliminary X-ray diffraction analysis of a HAdV5 vector that displays a short flexible fiber derived from HAdV35. Crystals of Ad35F were grown in 100 mM HEPES pH 7.0, 200 mM Ca(OAc){sub 2}, 14% PEG 550 MME, 15% glycerol in 100 mM Tris-HCl 8.5. Freshly grown crystals diffracted well to 4.5 {angstrom} resolution and weakly to 3.5 {angstrom} at synchrotron sources. HAdV crystals belong to space group P1 with unit cell parameters a = 854.03 {angstrom}, b = 855.17 {angstrom}, c = 865.24 {angstrom}, {alpha} = 119.57{sup o}, {beta} = 91.71{sup o}, {gamma} = 118.08{sup o} with a single particle in the unit cell. Self-rotation and locked-rotation function analysis allowed the determination of the particle orientation. Molecular replacement, density modification and phase-extension procedures are being employed for structure determination.

  18. Ocean thermal energy conversion cold water pipe preliminary design project. Task 2. Analysis for concept selection

    Energy Technology Data Exchange (ETDEWEB)

    None

    1979-04-01

    The successful performance of the CWP is of crucial importance to the overall OTEC system; the pipe itself is considered the most critical part of the entire operation. Because of the importance the CWP, a project for the analysis and design of CWP's was begun in the fall of 1978. The goals of this project were to study a variety of concepts for delivering cold water to an OTEC plant, to analyze and rank these concepts based on their relative cost and risk, and to develop preliminary design for those concepts which seemed most promising. Two representative platforms and sites were chosen: a spar buoy of a Gibbs and Cox design to be moored at a site off Punta Tuna, Puerto Rico, and a barge designed by APL/Johns Hopkins University, grazing about a site approximately 200 miles east of the coast of Brazil. The approach was to concentrate on the most promising concepts and on those which were either of general interest or espoused by others (e.g., steel and concrete concepts). Much of the overall attention, therefore, focused on analyzing rigid and compliant wall design, while stockade (except for the special case of the FRP stockade) and bottom-mounted concepts received less attention. A total of 67 CWP concepts were initially generated and subjected to a screening process. Of these, 16 were carried through design analysis, costing, and ranking. Study results are presented in detail. (WHK)

  19. Genetic Architecture of Atherosclerosis in Mice: A Systems Genetics Analysis of Common Inbred Strains.

    Directory of Open Access Journals (Sweden)

    Brian J Bennett

    2015-12-01

    Full Text Available Common forms of atherosclerosis involve multiple genetic and environmental factors. While human genome-wide association studies have identified numerous loci contributing to coronary artery disease and its risk factors, these studies are unable to control environmental factors or examine detailed molecular traits in relevant tissues. We now report a study of natural variations contributing to atherosclerosis and related traits in over 100 inbred strains of mice from the Hybrid Mouse Diversity Panel (HMDP. The mice were made hyperlipidemic by transgenic expression of human apolipoprotein E-Leiden (APOE-Leiden and human cholesteryl ester transfer protein (CETP. The mice were examined for lesion size and morphology as well as plasma lipid, insulin and glucose levels, and blood cell profiles. A subset of mice was studied for plasma levels of metabolites and cytokines. We also measured global transcript levels in aorta and liver. Finally, the uptake of acetylated LDL by macrophages from HMDP mice was quantitatively examined. Loci contributing to the traits were mapped using association analysis, and relationships among traits were examined using correlation and statistical modeling. A number of conclusions emerged. First, relationships among atherosclerosis and the risk factors in mice resemble those found in humans. Second, a number of trait-loci were identified, including some overlapping with previous human and mouse studies. Third, gene expression data enabled enrichment analysis of pathways contributing to atherosclerosis and prioritization of candidate genes at associated loci in both mice and humans. Fourth, the data provided a number of mechanistic inferences; for example, we detected no association between macrophage uptake of acetylated LDL and atherosclerosis. Fifth, broad sense heritability for atherosclerosis was much larger than narrow sense heritability, indicating an important role for gene-by-gene interactions. Sixth, stepwise linear

  20. A quantitative genetic analysis of intermediate asthma phenotypes

    DEFF Research Database (Denmark)

    Thomsen, S.F.; Ferreira, M.A.R.; Kyvik, K.O.

    2009-01-01

    to the observed data using maximum likelihood methods. RESULTS: Additive genetic factors explained 67% of the variation in FeNO, 43% in airway responsiveness, 22% in airway obstruction, and 81% in serum total IgE. In general, traits had genetically and environmentally distinct variance structures. The most...

  1. Analysis of Molecular Genetics Content in Spanish Secondary School Textbooks

    Science.gov (United States)

    Martinez-Gracia, M. V.; Gil-Quilez, M. J.; Osada, J.

    2006-01-01

    The treatment of molecular biology in thirty-four Spanish high school biology textbooks has been analysed using a check-list made up of twenty-three items. The study showed a tendency to confuse the genetic code with genetic information. The treatment of DNA transcription, regulation of gene expression and translation were presented as masses of…

  2. Genetic analysis of teosinte for kernel composition traits in maize

    Science.gov (United States)

    Teosinte (Zea mays ssp. parviglumis) is the wild ancestor of modern maize (Zea mays ssp. mays). Teosinte contains greater genetic diversity compared to maize inbreds and landraces, but its use is limited by insufficient genetic resources to evaluate its value. A population of teosinte near isogenic ...

  3. Analysis of genetic structure of white croaker using amplified ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-09-15

    Sep 15, 2009 ... The population with the highest Nei's genetic diversity and. Shannon diversity index ... fish assemblages off the coasts of China and Japan, supporting an ..... genetic distances. graphic structure of populations may be influenced by ... the sea-level-induced environmental signal was amplified in the marginal ...

  4. A roadmap for the genetic analysis of renal aging

    NARCIS (Netherlands)

    Noordmans, Gerda A.; van Goor, Harry; Hillebrands, Jan-Luuk; Korstanje, Ron

    2015-01-01

    Several studies show evidence for the genetic basis of renal disease, which renders some individuals more prone than others to accelerated renal aging. Studying the genetics of renal aging can help us to identify genes involved in this process and to unravel the underlying pathways. First, this opin

  5. Integrative genetic analysis of transcription modules: towards filling the gap between genetic lociand inherited traits

    Energy Technology Data Exchange (ETDEWEB)

    Li, Hongqiang [University of Tennessee Health Science Center, Memphis; Chen, Hao [University of Tennessee Health Science Center, Memphis; Bao, Lei [University of Tennessee Health Science Center, Memphis; Manly, Kenneth [University of Tennessee Health Science Center, Memphis; Chesler, Elissa J [ORNL; Lu, Lu [University of Tennessee Health Science Center, Memphis; Wang, Jintao [University of Tennessee Health Science Center, Memphis; Zhou, Mi [University of Tennessee Health Science Center, Memphis; Williams, Robert [University of Tennessee Health Science Center, Memphis; Cui, Yan [University of Tennessee Health Science Center, Memphis

    2005-01-01

    Genetic loci that regulate inherited traits are routinely identified using quantitative trait locus (QTL) mapping methods. However, the genotype-phenotype associations do not provide information on the gene expression program through which the genetic loci regulate the traits. Transcription modules are 'selfconsistent regulatory units' and are closely related to the modular components of gene regulatory network [Ihmels, J., Friedlander, G., Bergmann, S., Sarig, O., Ziv, Y. and Barkai, N. (2002) Revealing modular organization in the yeast transcriptional network. Nat. Genet., 31, 370-377; Segal, E., Shapira, M., Regev, A., Pe'er, D., Botstein, D., Koller, D. and Friedman, N. (2003) Module networks: identifying regulatory modules and their condition-specific regulators from gene expression data. Nat. Genet., 34, 166-176]. We used genome-wide genotype and gene expression data of a genetic reference population that consists of mice of 32 recombinant inbred strains to identify the transcription modules and the genetic loci regulating them. Twenty-nine transcription modules defined by genetic variations were identified. Statistically significant associations between the transcription modules and 18 classical physiological and behavioral traits were found. Genome-wide interval mapping showed that major QTLs regulating the transcription modules are often co-localized with the QTLs regulating the associated classical traits. The association and the possible co-regulation of the classical trait and transcription module indicate that the transcription module may be involved in the gene pathways connecting the QTL and the classical trait. Our results show that a transcription module may associate with multiple seemingly unrelated classical traits and a classical trait may associate with different modules. Literature mining results provided strong independent evidences for the relations among genes of the transcription modules, genes in the regions of the QTLs

  6. Regulation and Genetic Analysis of Leaf Source Capacity in Rice

    Institute of Scientific and Technical Information of China (English)

    CAO Shu-qing; ZHANG Rong-xian; LU Wei; CHEN Guo-xiang; DENG Zhi-rui; TANG Yun-lai; GONG Hong-bing; YANG Tu-nan

    2002-01-01

    The highest value of photosynthetic rate and active photosynthesis duration in flag leaves could be increased in a range of 3.55% and 3 d by dressing N (112.5 kg/ha) at heading stage in hybrid rice variety cv. Shanyou63 compared with control (no dressing N at heading), respectively. This resulted in the 7.93 percentage and 5.70 percentage increases of its leaf source capacity (LSC) and yield, respectively. Furthermore,genetic analysis of LSC was made by 4 × 4 incomplete diallel cross-design with 4 sterility lines and 4 resilience lines. The results showed that hB2 and hN2 in LSC for rice were higher than 70 percentage and 30 percentage,respectively, suggesting that it may be used as an index for selecting varieties with high photosynthetic efficiency in rice breeding. There were the similar effects of the additive and non-additive variations on LSC in hybrid rice. LSC was mainly influenced by sterility line and resilience interactions. The adding effect value of general combining ability for its parents may be used to forecast the phenotype of LSC in hybrid rice.

  7. Potential of Microsatellites Markers for the Genetic Analysis of Bryophytes

    Directory of Open Access Journals (Sweden)

    Saumy PANDEY

    2016-03-01

    Full Text Available Microsatellites have increasingly being used to study genetic diversity, phylogeny, population genetics, population ecology and genetic mapping of bryophytes. Due to co-dominant and highly reproducible features, microsatellites became markers of choice for several genetic analyses of bryophytes. However, the major limitation is de novo isolation of microsatellites from the interest species which were studied and gave genomic libraries. Initially, traditional methods of microsatellite development were tedious and time consuming, but due to the sequencing of several bryophytes available in public databases, advancement in PCR technologies and computer software, have cumulatively facilitated the development of microsatellites for bryophytes study. This review examines the features, strategies for the development of microsatellites and their utilization in many aspects of genetic and ecological studies of bryophytes.

  8. Simulation Approach for Timing Analysis of Genetic Logic Circuits.

    Science.gov (United States)

    Baig, Hasan; Madsen, Jan

    2017-02-01

    Constructing genetic logic circuits is an application of synthetic biology in which parts of the DNA of a living cell are engineered to perform a dedicated Boolean function triggered by an appropriate concentration of certain proteins or by different genetic components. These logic circuits work in a manner similar to electronic logic circuits, but they are much more stochastic and hence much harder to characterize. In this article, we introduce an approach to analyze the threshold value and timing of genetic logic circuits. We show how this approach can be used to analyze the timing behavior of single and cascaded genetic logic circuits. We further analyze the timing sensitivity of circuits by varying the degradation rates and concentrations. Our approach can be used not only to characterize the timing behavior but also to analyze the timing constraints of cascaded genetic logic circuits, a capability that we believe will be important for design automation in synthetic biology.

  9. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Science.gov (United States)

    Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

    2016-01-01

    Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

  10. Molecular and structural analysis of genetic variations in congenital cataract

    Science.gov (United States)

    Kumar, Manoj; Agarwal, Tushar; Kaur, Punit; Kumar, Manoj; Khokhar,, Sudarshan

    2013-01-01

    Objective To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. Methods We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJA8, and heat shock transcription factor 4 gene genes were amplified. Protein structure differences analysis was performed using Discovery Studio (DS) 2.0. Results The mean age of the patients was 17.45±16.51 months, and the age of onset was 1.618±0.7181 months. Sequencing analysis of 14 genes identified 18 nucleotide variations. Fourteen variations were found in the crystallin genes, one in Cx-46 (GJA3), and three in BFSP1. Conclusions Congenital cataract shows marked clinical and genetic heterogeneity. Five nucleotide variations (CRYBA4:p.Y67N, CRYBB1:p.D85N, CRYBB1:p.E75K, CRYBB1:p.E155K, and GJA3:p.M1V) were predicted to be pathogenic. Variants in other genes might also be involved in maintaining lens development, growth, and transparency. The study confirms that the crystallin beta cluster on chromosome 22, Cx-46, and BFSP1 plays a major role in maintaining lens transparency. This study also expands the mutation spectrum of the genes associated with congenital cataract. PMID:24319337

  11. Genetic and physiological analysis of iron biofortification in maize kernels.

    Directory of Open Access Journals (Sweden)

    Mercy G Lung'aho

    Full Text Available BACKGROUND: Maize is a major cereal crop widely consumed in developing countries, which have a high prevalence of iron (Fe deficiency anemia. The major cause of Fe deficiency in these countries is inadequate intake of bioavailable Fe, where poverty is a major factor. Therefore, biofortification of maize by increasing Fe concentration and or bioavailability has great potential to alleviate this deficiency. Maize is also a model system for genomic research and thus allows the opportunity for gene discovery. Here we describe an integrated genetic and physiological analysis of Fe nutrition in maize kernels, to identify loci that influence grain Fe concentration and bioavailability. METHODOLOGY: Quantitative trait locus (QTL analysis was used to dissect grain Fe concentration (FeGC and Fe bioavailability (FeGB from the Intermated B73 × Mo17 (IBM recombinant inbred (RI population. FeGC was determined by ion coupled argon plasma emission spectroscopy (ICP. FeGB was determined by an in vitro digestion/Caco-2 cell line bioassay. CONCLUSIONS: Three modest QTL for FeGC were detected, in spite of high heritability. This suggests that FeGC is controlled by many small QTL, which may make it a challenging trait to improve by marker assisted breeding. Ten QTL for FeGB were identified and explained 54% of the variance observed in samples from a single year/location. Three of the largest FeGB QTL were isolated in sister derived lines and their effect was observed in three subsequent seasons in New York. Single season evaluations were also made at six other sites around North America, suggesting the enhancement of FeGB was not specific to our farm site. FeGB was not correlated with FeGC or phytic acid, suggesting that novel regulators of Fe nutrition are responsible for the differences observed. Our results indicate that iron biofortification of maize grain is achievable using specialized phenotyping tools and conventional plant breeding techniques.

  12. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Directory of Open Access Journals (Sweden)

    A. Dessa Sadovnick

    2016-07-01

    Full Text Available Multiple sclerosis (MS is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D in plasminogen (PLG as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351 in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117, despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87. To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

  13. Analysis of genetic and non genetic risk factors for cisplatin ototoxicity in pediatric patients.

    Science.gov (United States)

    Olgun, Yüksel; Aktaş, Safiye; Altun, Zekiye; Kırkım, Günay; Kızmazoğlu, Deniz Çakır; Erçetin, Ayşe Pınar; Demir, Banu; İnce, Dilek; Mutafoğlu, Kamer; Demirağ, Bengü; Ellidokuz, Hülya; Olgun, Nur; Güneri, Enis Alpin

    2016-11-01

    The aim of this study was to analyse the genetic and non genetic risk factors for cisplatin ototoxicity. This study was conducted on 72 children who received cisplatin based chemotherapy. Brock and Muenster classifications were used to evaluate ototoxicity seen in these children. 6 single nucleotide polymorphisms (SNP); ERCC1 rs 11615, GSTP1 rs1138272, GSTP1 rs1695, LRP2 rs 2075252, TPMT rs 12201199, COMT rs 9332377, were evaluated as genetic factors by real time PCR. Non genetic factors such as cranial irradiation, cumulative doses of cisplatin, age, gender, administration of other ototoxic drugs were analysed as well. By using Chi-square test, risk factors were matched with the ototoxicity classifications. Significant risk factors were reevaluated using logistic regression modelling. According to univariate analyses, male gender, co-treatment with aminoglycosides and mutant genotype of GSTP1 rs1695 were significantly related with cisplatin ototoxicity. Logistic regression modelling analyses also showed that male gender, co-treatment with aminoglycosides were found to be significantly related with cisplatin ototoxicity. Mutant genotype of GSTP1 rs1695 was not found to be significant, but close to the level of statistical significance. Male gender, co-treatment with aminoglycosides are significant risk factors for cisplatin ototoxicity in pediatric patients. Mutant genotype of GSTP1 rs1695 seems to be a genetic risk factor in univariate analyses, although not confirmed by multivariate analyses. Therefore, GSTP1 rs1695 SNP needs to be studied in larger series. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  14. Genetic and evolutionary analysis of the Drosophila larval neuromuscular junction

    Science.gov (United States)

    Campbell, Megan

    Although evolution of brains and behaviors is of fundamental biological importance, we lack comprehensive understanding of the general principles governing these processes or the specific mechanisms and molecules through which the evolutionary changes are effected. Because synapses are the basic structural and functional units of nervous systems, one way to address these problems is to dissect the genetic and molecular pathways responsible for morphological evolution of a defined synapse. I have undertaken such an analysis by examining morphology of the larval neuromuscular junction (NMJ) in wild caught D. melanogaster as well as in over 20 other species of Drosophila. Whereas variation in NMJ morphology within a species is limited, I discovered a surprisingly extensive variation among different species. Compared with evolution of other morphological traits, NMJ morphology appears to be evolving very rapidly. Moreover, my data indicate that natural selection rather than genetic drift is primarily responsible for evolution of NMJ morphology. To dissect underlying molecular mechanisms that may govern NMJ growth and evolutionary divergence, I focused on a naturally occurring variant in D. melanogaster that causes NMJ overgrowth. I discovered that the variant mapped to Mob2, a gene encoding a kinase adapter protein originally described in yeast as a member of the Mitotic Exit Network (MEN). I have subsequently examined mutations in the Drosophila orthologs of all the core components of the yeast MEN and found that all of them function as part of a common pathway that acts presynaptically to negatively regulate NMJ growth. As in the regulation of yeast cytokinesis, these components of the MEN appear to act ultimately by regulating actin dynamics during the process of bouton growth and division. These studies have thus led to the discovery of an entirely new role for the MEN---regulation of synaptic growth---that is separate from its function in cell division. This work

  15. Two-phase analysis in consensus genetic mapping.

    Science.gov (United States)

    Ronin, Y; Mester, D; Minkov, D; Belotserkovski, R; Jackson, B N; Schnable, P S; Aluru, S; Korol, A

    2012-05-01

    Numerous mapping projects conducted on different species have generated an abundance of mapping data. Consequently, many multilocus maps have been constructed using diverse mapping populations and marker sets for the same organism. The quality of maps varies broadly among populations, marker sets, and software used, necessitating efforts to integrate the mapping information and generate consensus maps. The problem of consensus genetic mapping (MCGM) is by far more challenging compared with genetic mapping based on a single dataset, which by itself is also cumbersome. The additional complications introduced by consensus analysis include inter-population differences in recombination rate and exchange distribution along chromosomes; variations in dominance of the employed markers; and use of different subsets of markers in different labs. Hence, it is necessary to handle arbitrary patterns of shared sets of markers and different level of mapping data quality. In this article, we introduce a two-phase approach for solving MCGM. In phase 1, for each dataset, multilocus ordering is performed combined with iterative jackknife resampling to evaluate the stability of marker orders. In this phase, the ordering problem is reduced to the well-known traveling salesperson problem (TSP). Namely, for each dataset, we look for order that gives minimum sum of recombination distances between adjacent markers. In phase 2, the optimal consensus order of shared markers is selected from the set of allowed orders and gives the minimal sum of total lengths of nonconflicting maps of the chromosome. This criterion may be used in different modifications to take into account the variation in quality of the original data (population size, marker quality, etc.). In the foregoing formulation, consensus mapping is considered as a specific version of TSP that can be referred to as "synchronized TSP." The conflicts detected after phase 1 are resolved using either a heuristic algorithm over the

  16. Hierarchical linear modeling of longitudinal pedigree data for genetic association analysis.

    Science.gov (United States)

    Tan, Qihua; B Hjelmborg, Jacob V; Thomassen, Mads; Jensen, Andreas Kryger; Christiansen, Lene; Christensen, Kaare; Zhao, Jing Hua; Kruse, Torben A

    2014-01-01

    Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees, which could affect statistical assessment of the genetic effects. Approaches have been proposed to integrate kinship correlation into the mixed-effect models to explicitly model the genetic relationship. These have proved to be an efficient way of dealing with sample clustering in pedigree data. Although current algorithms implemented in popular statistical packages are useful for adjusting relatedness in the mixed modeling of genetic effects on the mean level of a phenotype, they are not sufficiently straightforward to handle the kinship correlation on the time-dependent trajectories of a phenotype. We introduce a 2-level hierarchical linear model to separately assess the genetic associations with the mean level and the rate of change of a phenotype, integrating kinship correlation in the analysis. We apply our method to the Genetic Analysis Workshop 18 genome-wide association studies data on chromosome 3 to estimate the genetic effects on systolic blood pressure measured over time in large pedigrees. Our method identifies genetic variants associated with blood pressure with estimated inflation factors of 0.99, suggesting that our modeling of random effects efficiently handles the genetic relatedness in pedigrees. Application to simulated data captures important variants specified in the simulation. Our results show that the method is useful for genetic association studies in related samples using longitudinal design.

  17. Can a genetically-modified organism-containing diet influence embryo development? A preliminary study on pre-implantation mouse embryos

    Directory of Open Access Journals (Sweden)

    B Cisterna

    2009-08-01

    Full Text Available In eukaryotic cells, pre-mRNAs undergo several transformation steps to generate mature mRNAs. Recent studies have demonstrated that a diet containing a genetically modified (GM soybean can induce modifications of nuclear constituents involved in RNA processing in some tissues of young, adult and old mice. On this basis, we have investigated the ultrastructural and immunocytochemical features of pre-implantation embryos from mice fed either GM or non- GM soybean in order to verify whether the parental diet can affect the morpho-functional development of the embryonic ribonucleoprotein structural constituents involved in premRNA pathways. Morphological observations revealed that the general aspect of embryo nuclear components is similar in the two experimental groups. However, immunocytochemical and in situ hybridization results suggest a temporary decrease of pre-mRNA transcription and splicing in 2-cell embryos and a resumption in 4-8-cell embryos from mice fed GM soybean; moreover, pre-mRNA maturation seems to be less efficient in both 2-cell and 4-8-cell embryos from GM-fed mice than in controls. Although our results are still preliminary and limited to the pre-implantation phases, the results of this study encourage deepening on the effects of food components and/or contaminants on embryo development.

  18. Reactive Aggression and Suicide-Related Behaviors in Children and Adolescents: A Review and Preliminary Meta-Analysis.

    Science.gov (United States)

    Hartley, Chelsey M; Pettit, Jeremy W; Castellanos, Daniel

    2017-01-03

    The empirical literature on the association between reactive aggression and suicide-related behaviors in children and adolescents was reviewed. A narrative review of seven studies that met inclusion/exclusion criteria is followed by a preliminary meta-analysis to provide insight into the strength of the association between reactive aggression and suicide-related behaviors. Each of the seven studies reported a statistically significant association between reactive aggression and suicide-related behaviors, including suicide, nonfatal suicide attempt, and suicide ideation. Results from the meta-analysis indicated a consistent, medium-sized association (k = 7; N = 4,693; rbar = .25). The narrative review and results of the preliminary meta-analysis support the promise of pursuing future research on reactive aggression and suicide-related behaviors in children and adolescents. A theoretical model is proposed to guide the development of future research.

  19. Report on preliminary analysis of state of nuclear criticality accident at JCO at Tokaimura, Ibaraki, Japan (I)

    Energy Technology Data Exchange (ETDEWEB)

    Ha, J.J.; Park, J.H.; Chang, J.H. [Korea Atomic Energy Research Institute, Taejon (Korea)

    1999-10-01

    This preliminary report was prepared by the Special Task Force Team of KAERI in order to analysis status of nuclear criticality accident broken out at 10:35 September 30, 1999 at JCO nuclear conversion test facility located at Tokaimura, Ibaraki, Japan. The report was consisted of accident summary of cause of accident summary of cause of accident and response by relevant organizations, and preliminary technical analysis of radiation exposure of JCO workers, analysis of cause of accident, and accident assessment and preventive actions against criticality accident. It is expected that JCO accident, Japan's first nuclear criticality accident, would make significant effects to Japan nuclear policy and would be also a good example to Korea future actions to be taken in use and development of nuclear energy. 63 refs., 3 figs., 1 tab. (Author)

  20. Genetics, realized heritability and preliminary mechanism of spinosad resistance in Phenacoccus solenopsis Tinsley (Homoptera: Pseudococcidae): an invasive pest from Pakistan.

    Science.gov (United States)

    Afzal, Muhammad Babar Shahzad; Shad, Sarfraz Ali; Abbas, Naeem

    2015-12-01

    The cotton mealybug, Phenacoccus solenopsis Tinsley (Homoptera: Pseudococcidae) has gained recognition as a key pest due to its invasive nature throughout the world. The P. solenopsis has a wide range of host plants and damages the cotton crop in various parts of the world. In view of the economic importance of this pest, a study on selection, inheritance and mechanism of spinosad resistance was conducted on P. solenopsis. Selection of field collected P. solenopsis for seven generations with spinosad resulted in a high resistance ratio of 282.45-fold. Genetic studies of spinosad resistance in P. solenopsis indicated that maternal effects are not involved in spinosad resistance; and resistance development is an autosomal and incompletely dominant trait. The number of genes involved in spinosad resistance was determined to be more than one, suggesting that resistance is controlled by multiple loci. The realized heritability (h (2)) value for spinosad resistance was 0.94. Synergism bioassays of spinosad with piperonyl butoxide and S,S,S-tributyl phosphorotrithioate showed that spinosad resistance in P. solenopsis could be due to esterase only. The study provides the basic information for implementation of effective resistance management strategies to control P. solenopsis.

  1. Discriminant analysis of principal components: a new method for the analysis of genetically structured populations

    Directory of Open Access Journals (Sweden)

    Balloux François

    2010-10-01

    Full Text Available Abstract Background The dramatic progress in sequencing technologies offers unprecedented prospects for deciphering the organization of natural populations in space and time. However, the size of the datasets generated also poses some daunting challenges. In particular, Bayesian clustering algorithms based on pre-defined population genetics models such as the STRUCTURE or BAPS software may not be able to cope with this unprecedented amount of data. Thus, there is a need for less computer-intensive approaches. Multivariate analyses seem particularly appealing as they are specifically devoted to extracting information from large datasets. Unfortunately, currently available multivariate methods still lack some essential features needed to study the genetic structure of natural populations. Results We introduce the Discriminant Analysis of Principal Components (DAPC, a multivariate method designed to identify and describe clusters of genetically related individuals. When group priors are lacking, DAPC uses sequential K-means and model selection to infer genetic clusters. Our approach allows extracting rich information from genetic data, providing assignment of individuals to groups, a visual assessment of between-population differentiation, and contribution of individual alleles to population structuring. We evaluate the performance of our method using simulated data, which were also analyzed using STRUCTURE as a benchmark. Additionally, we illustrate the method by analyzing microsatellite polymorphism in worldwide human populations and hemagglutinin gene sequence variation in seasonal influenza. Conclusions Analysis of simulated data revealed that our approach performs generally better than STRUCTURE at characterizing population subdivision. The tools implemented in DAPC for the identification of clusters and graphical representation of between-group structures allow to unravel complex population structures. Our approach is also faster than

  2. Toward genetics-based virus taxonomy: comparative analysis of a genetics-based classification and the taxonomy of picornaviruses.

    Science.gov (United States)

    Lauber, Chris; Gorbalenya, Alexander E

    2012-04-01

    Virus taxonomy has received little attention from the research community despite its broad relevance. In an accompanying paper (C. Lauber and A. E. Gorbalenya, J. Virol. 86:3890-3904, 2012), we have introduced a quantitative approach to hierarchically classify viruses of a family using pairwise evolutionary distances (PEDs) as a measure of genetic divergence. When applied to the six most conserved proteins of the Picornaviridae, it clustered 1,234 genome sequences in groups at three hierarchical levels (to which we refer as the "GENETIC classification"). In this study, we compare the GENETIC classification with the expert-based picornavirus taxonomy and outline differences in the underlying frameworks regarding the relation of virus groups and genetic diversity that represent, respectively, the structure and content of a classification. To facilitate the analysis, we introduce two novel diagrams. The first connects the genetic diversity of taxa to both the PED distribution and the phylogeny of picornaviruses. The second depicts a classification and the accommodated genetic diversity in a standardized manner. Generally, we found striking agreement between the two classifications on species and genus taxa. A few disagreements concern the species Human rhinovirus A and Human rhinovirus C and the genus Aphthovirus, which were split in the GENETIC classification. Furthermore, we propose a new supergenus level and universal, level-specific PED thresholds, not reached yet by many taxa. Since the species threshold is approached mostly by taxa with large sampling sizes and those infecting multiple hosts, it may represent an upper limit on divergence, beyond which homologous recombination in the six most conserved genes between two picornaviruses might not give viable progeny.

  3. Preliminary results on the EUCLID NISP stray-light and ghost analysis

    Science.gov (United States)

    Geis, Norbert; Grupp, Frank; Prieto, Eric; Bender, Ralf

    2015-09-01

    The EUCLID mission within the European Space Agencies 2015 - 2025 Cosmic Vision framework addresses cosmological questions related to dark matter and dark energy. EUCLID is equipped with two instruments that are simultaneously observing patches of > 0:5 square degree on the sky. The VIS visual light high spacial resolution imager and the NISP near infrared spectrometer and photometer are separated by a di-chroic beam splitter. With its large FoV (larger than the full moon disk), together with high demands on the optical performance and strong requirements on in flight stability lead to very challenging demands on alignment and post launch { post cool-down optical element position. In addition the demanding requirements from spectroscopy and galaxy photometry lead to a highly demanding stray light and ghost control need. With this paper we present a preliminary - PDR level - analysis of ghosting and stray light levels in the EUCLID NISP near infrared spectrometer and photometer. The analysis presented focuses on the photometric channel, as this, together with the wide field of the instrument, shows most of the challenges and features of the instrument. As one requirement is to have a non vignetting design, extensive baffling is not possible, and only secondary and higher order light can be actively baffled. A comprehensive ZEMAX based analysis is being presented, showing in summary that baffles are only necessary due to the EUCLID fine guiding sensors auxiliary fields of view. The total level of contaminating light is thereafter dominated by stray light from dust on the lenses. Ghosts play a minor role.

  4. Preliminary Study on the Genetic Diversity of Germplasm for Cyclocarya paliurus Revealed by SRAP Markers%青钱柳种质资源多样性SRAP初步分析

    Institute of Scientific and Technical Information of China (English)

    周一旸; 洑香香; 尚旭岚; 杨万霞; 方升佐

    2011-01-01

    In order to assess the genetic diversity of germplasm for Cyclocarya paliurus by molecular markers,DNA extraction method and key parameters of SRAP reaction system were optimized; polymorphic primers were screened with the optimal system, and preliminary analysis of genetic diversity of 9 provenances by using a pair of primers was operated in this paper. The results showed that a SRAP reaction system for Cyclocarya paliurus was established through optimal design. 13 pairs ofpolymorphic primers were screened from 110 pairs of SRAP markers and 21 bands were amplified using primer pair Me7+Em2 with the polymorphic rate of 100% . Moreover, genetic diversity analysis showed that the mean Ne value of 9 provenances was 1.342 9: the mean Ⅰ value, the mean H value and provenance Gst was 0.368 7, 0.226 7 and 0.198 3, respectively. The UPGMA clustering analysis displayed that 9 provenances could be divided into 3 groups at the genetic distance of 0.100, which indicated a higher correlation between the genetic distance and geographic distribution among provenances. The results of this reseach showed that germplasm of Cyclocarya paliurus we collected had widely genetic diversity, and would provide a better basis of exploitation.%为了利用分子标记方法评价青钱柳种质资源的遗传多样性,本文对青钱柳DNA的提取、SRAP扩增体系重要参数进行了优化,运用优化体系筛选多态性引物,并用1对引物对青钱柳9个种源进行了遗传多样性初步分析.研究结果建立了适于青钱柳SRAP的扩增体系;从110对SRAP引物中筛选出了13对多态性引物,运用1对引物组合Me7+Em2扩增获得21个多态性位点,多态率达100%.遗传多样性分析表明有效等位基因数(Ne)为1.342 9,平均Shannon's信息指数(I)为0.368 7,Nei's基因多样性指数(H)为0.226 7,种源的遗传分化指数Gst为0.198 3;聚类分析结果表明9个种源在遗传距离0.100处聚为3类,聚类结果和地理距离之间呈现较高

  5. Global annealing genetic algorithm and its convergence analysis

    Institute of Scientific and Technical Information of China (English)

    张讲社; 徐宗本; 梁怡

    1997-01-01

    A new selection mechanism termed global annealing selection (GAnS) is proposed for the genetic algorithm. It is proved that the GAnS genetic algorithm converges to the global optimums if and only if the parents are allowed to compete for reproduction, and that the variance of population’s fitness can be used as a natural stopping criterion. Numerical simulations show that the new algorithm has stronger ability to escape from local maximum and converges more rapidly than canonical genetic algorithm.

  6. Crystallization and preliminary X-ray analysis of Chandipura virus glycoprotein G.

    Science.gov (United States)

    Baquero, Eduard; Buonocore, Linda; Rose, John K; Bressanelli, Stéphane; Gaudin, Yves; Albertini, Aurélie A

    2012-09-01

    Fusion in members of the Rhabdoviridae virus family is mediated by the G glycoprotein. At low pH, the G glycoprotein catalyzes fusion between viral and endosomal membranes by undergoing a major conformational change from a pre-fusion trimer to a post-fusion trimer. The structure of the G glycoprotein from vesicular stomatitis virus (VSV G), the prototype of Vesiculovirus, has recently been solved in its trimeric pre-fusion and post-fusion conformations; however, little is known about the structural details of the transition. In this work, a soluble form of the ectodomain of Chandipura virus G glycoprotein (CHAV G(th)) was purified using limited proteolysis of purified virus; this soluble ectodomain was also crystallized. This protein shares 41% amino-acid identity with VSV G and thus its structure could provide further clues about the structural transition of rhabdoviral glycoproteins induced by low pH. Crystals of CHAV G(th) obtained at pH 7.5 diffracted X-rays to 3.1 Å resolution. These crystals belonged to the orthorhombic space group P2(1)2(1)2, with unit-cell parameters a = 150.3, b = 228.2, c = 78.8 Å. Preliminary analysis of the data based on the space group and the self-rotation function indicated that there was no trimeric association of the protomers. This unusual oligomeric status could result from the presence of fusion intermediates in the crystal.

  7. Preliminary uncertainty analysis of OECD/UAM benchmark for the TMI-1 reactor

    Energy Technology Data Exchange (ETDEWEB)

    Cardoso, Fabiano S.; Faria, Rochkhudson B.; Silva, Lucas M.C.; Pereira, Claubia; Fortini, Angela, E-mail: claubia@nuclear.ufmg.br [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Departamento de Engenharia Nuclear

    2015-07-01

    Nowadays the demand from nuclear research centers for safety, regulation and better-estimated predictions provided with confidence bounds has been increasing. On that way, studies have pointed out that present uncertainties in the nuclear data should be significantly reduced, to get the full benefit from the advanced modeling and simulation initiatives. The major outcome of NEA/OECD (UAM) workshop took place Italy on 2006, was the preparation of a benchmark work program with steps (exercises) that would be needed to define the uncertainty and modeling tasks. On that direction, this work was performed within the framework of UAM Exercise 1 (I-1) 'Cell Physics' to validate the study, and to be able estimated the accuracies of the model. The objectives of this study were to make a preliminary analysis of criticality values of TMI-1 PWR and the biases of the results from two different nuclear codes multiplication factor. The range of the bias was obtained using the deterministic codes: NEWT (New ESC-based Weighting Transport code), the two-dimensional transport module that uses AMPX-formatted cross-sections processed by other SCALE; and WIMSD5 (Winfrith Improved Multi-Group Scheme) code. The WIMSD5 system consists of a simplified geometric representation of heterogeneous space zones that are coupled with each other and with the boundaries, while the properties of each spacing element are obtained from Carlson DSN method or Collision Probability method. (author)

  8. Global volcanic earthquake swarm database and preliminary analysis of volcanic earthquake swarm duration

    Directory of Open Access Journals (Sweden)

    S. R. McNutt

    1996-06-01

    Full Text Available Global data from 1979 to 1989 pertaining to volcanic earthquake swarms have been compiled into a custom-designed relational database. The database is composed of three sections: 1 a section containing general information on volcanoes, 2 a section containing earthquake swarm data (such as dates of swarm occurrence and durations, and 3 a section containing eruption information. The most abundant and reliable parameter, duration of volcanic earthquake swarms, was chosen for preliminary analysis. The distribution of all swarm durations was found to have a geometric mean of 5.5 days. Precursory swarms were then separated from those not associated with eruptions. The geometric mean precursory swarm duration was 8 days whereas the geometric mean duration of swarms not associated with eruptive activity was 3.5 days. Two groups of precursory swarms are apparent when duration is compared with the eruption repose time. Swarms with durations shorter than 4 months showed no clear relationship with the eruption repose time. However, the second group, lasting longer than 4 months, showed a significant positive correlation with the log10 of the eruption repose period. The two groups suggest that different suites of physical processes are involved in the generation of volcanic earthquake swarms.

  9. In situ fluidization for peat bed rupture, and preliminary economic analysis.

    Science.gov (United States)

    Niven, R K; Khalili, N

    2002-11-01

    This study concerns in situ fluidization (ISF), a new remediation method with potential application to the remediation of NAPL and heavy metal contaminants, by their release from the fluidized zone generated by a water jet. The present study examines the effect of ISF on layers of peat, of significance owing to its role as an important NAPL and metal contaminant trap. Once trapped, such contaminants are not readily accessible by most remedial methods, due to the low permeability and diffusivity of the peat. A simple tank experiment is used to demonstrate rupture of a peat layer by ISF, with removal of the peat as elutriated fines and segregated peat chunks. The application of ISF in the field is then examined by three field trials in uncontaminated sands, in both saturated and unsaturated conditions. Fluidized depths of up to 1.9 m in the saturated zone (with refusal on a peat layer) and 2.5 m in the unsaturated zone (no refusal) were attained, using a 1.9-m-long, 50 mm diameter jet operated at 5-13 1 s(-1). Pulses of dark turbidity and shell fragments in the effluent indicated the rupture of peat and shelly layers. The experiments demonstrate the hydraulic viability of ISF in the field, and its ability to remove peat-based contaminants. The issues of appropriate jet design and water generation during ISF are discussed, followed by a preliminary economic analysis of ISF relative to existing remediation methods.

  10. Cloning, expression, crystallization and preliminary X-ray data analysis of norcoclaurine synthase from Thalictrum flavum

    Energy Technology Data Exchange (ETDEWEB)

    Pasquo, Alessandra [ENEA Casaccia Research Centre, Dipartimento BIOTEC, Sezione Genetica e Genomica Vegetale, PO Box 2400, I-00100 Rome (Italy); Bonamore, Alessandra; Franceschini, Stefano; Macone, Alberto; Boffi, Alberto; Ilari, Andrea, E-mail: andrea.ilari@uniroma1.it [Istituto di Biologia e Patologia Molecolari, CNR (IBPM) and Department Of Biochemical Sciences, University of Roma ‘La Sapienza’, Piazza Aldo Moro 5, 00179 Roma (Italy); ENEA Casaccia Research Centre, Dipartimento BIOTEC, Sezione Genetica e Genomica Vegetale, PO Box 2400, I-00100 Rome (Italy)

    2008-04-01

    The cloning, expression, crystallization and preliminary X-ray data analysis of norcoclaurine synthase from T. flavum, a protein which catalyzes the first committed step in the biosynthesis of benzylisoquinoline alkaloids, are reported. Norcoclaurine synthase (NCS) catalyzes the condensation of 3,4-dihydroxyphenylethylamine (dopamine) and 4-hydroxyphenylacetaldehyde (4-HPAA) as the first committed step in the biosynthesis of benzylisoquinoline alkaloids in plants. The protein was cloned, expressed and purified. Crystals were obtained at 294 K by the hanging-drop vapour-diffusion method using ammonium sulfate and sodium chloride as precipitant agents and diffract to better than 3.0 Å resolution using a synchrotron-radiation source. The crystals belong to the trigonal space group P3{sub 1}21, with unit-cell parameters a = b = 86.31, c = 118.36 Å. A selenomethionine derivative was overexpressed, purified and crystallized in the same space group. A complete MAD data set was collected at 2.7 Å resolution. The model is under construction.

  11. Acanthamoeba polyphaga mimivirus NDK: preliminary crystallographic analysis of the first viral nucleoside diphosphate kinase

    Energy Technology Data Exchange (ETDEWEB)

    Jeudy, Sandra [Information Génomique et Structurale, CNRS UPR 2589, 31 Chemin Joseph Aiguier, 13402 Marseille CEDEX 20 (France); Coutard, Bruno [Architecture et Fonction des Macromolecules Biologiques, CNRS UMR 6098, 31 Chemin Joseph Aiguier, 13402 Marseille CEDEX 20 (France); Lebrun, Régine [IBSM, 31 Chemin Joseph Aiguier, 13402 Marseille CEDEX 20 (France); Abergel, Chantal, E-mail: chantal.abergel@igs.cnrs-mrs.fr [Information Génomique et Structurale, CNRS UPR 2589, 31 Chemin Joseph Aiguier, 13402 Marseille CEDEX 20 (France)

    2005-06-01

    A. polyphaga mimivirus, the largest known double-stranded DNA virus, is the first virus to exhibit a nucleoside diphosphate kinase gene. The expression and crystallization of the viral NDK are reported. The complete sequence of the largest known double-stranded DNA virus, Acanthamoeba polyphaga mimivirus, has recently been determined [Raoult et al. (2004 ▶), Science, 306, 1344–1350] and revealed numerous genes not expected to be found in a virus. A comprehensive structural and functional study of these gene products was initiated [Abergel et al. (2005 ▶), Acta Cryst. F61, 212–215] both to better understand their role in the virus physiology and to obtain some clues to the origin of DNA viruses. Here, the preliminary crystallographic analysis of the viral nucleoside diphosphate kinase protein is reported. The crystal belongs to the cubic space group P2{sub 1}3, with unit-cell parameter 99.425 Å. The self-rotation function confirms that there are two monomers per asymmetric unit related by a twofold non-crystallographic axis and that the unit cell thus contains four biological entities.

  12. N-Acetyltransferase 2 status and gastric cancer risk: a preliminary meta-analysis

    Directory of Open Access Journals (Sweden)

    Stefania Boccia

    2005-03-01

    Full Text Available

    In recent studies N- Acetyltransferase 2 (NAT2 genotype has been considered as a risk factor for developing gastric cancer, however with conflicting results among Asian and Caucasian populations. In order to clarify the influence of NAT2 slow acetylation status on gastric cancer risk, a preliminary meta-analysis of published case-control studies was undertaken.

    The primary outcome measure was the odds ratio (OR for the risk of gastric cancer associated with the NAT2 slow genotype using a random effects model. Pooling the results from the 5 studies identified (771 cases, 1083 controls, an overall OR for gastric cancer risk associated with the NAT2 slow genotype of 0.91 emerged (95% CI: 0.54-1.55.

    The result suggests that the NAT2 slow genotype has probably no effect on the risk of gastric cancer. Additional epidemiological studies, based on sample sizes that are commensurate with the detection of small genotypic risks, are required to confirm these findings. Future studies may also help to clarify whether geographic differences exist.

  13. Preliminary Analysis of Two Years of the Massive Collision Monitoring Activity

    Science.gov (United States)

    McKnight, Darren; Matney, Mark; Walbert, Kris; Behrend, Sophie; Casey, Patrick; Speaks, Seth

    2017-01-01

    It is hypothesized that the interactions between many of the most massive derelicts in low Earth orbit are more frequent than modeled by the traditional combination of kinetic theory of gases and Poisson probability distribution function. This is suggested by the fact that there are clusters of derelicts where members' inclinations are nearly identical and their apogees/perigees overlap significantly resulting in periodic synchronization of the objects' orbits. In order to address this proposition, an experiment was designed and conducted over the last two years. Results from this monitoring and characterization experiment are presented with implications for proposed debris remediation strategies. Four separate clusters of massive derelicts were examined that are centered around 775km, 850km, 975km, and 1500km, respectively. In aggregate, the constituents of these clusters contain around 500 objects and about 800,000kg of mass; this equates to a third of all derelict mass in LEO. Preliminary analysis indicates that encounter rates over this time period for these objects are greater than is estimated by traditional techniques. Hypothesized dependencies between latitude of encounter, relative velocity, frequency of encounters, inclination, and differential semi-major axis were established and verified. This experiment also identified specific repeatable cluster dynamics that may reduce the cost/risk and enhance the effectiveness of debris remediation activities and also enable new operational debris remediation options.

  14. GC-MS Analysis and Preliminary Antimicrobial Activity of Albizia adianthifolia (Schumach and Pterocarpus angolensis (DC

    Directory of Open Access Journals (Sweden)

    Mustapha N. Abubakar

    2016-01-01

    Full Text Available The non-polar components of two leguminoceae species Albizia adianthifolia (Schumach, and Pterocarpus angolensis (DC were investigated. GC-MS analysis of the crude n-hexane and chloroform extracts together with several chromatographic separation techniques led to the identification and characterization (using NMR of sixteen known compounds from the heartwood and stem bark of Albizia adianthifolia and Pterocarpus angolensis respectively. These constituents include, n-hexadecanoic acid (palmitic acid 1, oleic acid 2, chondrillasterol 3, stigmasterol 4, 24S 5α-stigmast-7-en-3β-ol 5, 9,12-octadecadienoic acid (Z,Z-, methyl ester 6, trans-13-octadecanoic acid, methyl ester 7, tetradecanoic acid 8, hexadecanoic acid, methyl ester 9, octadecanoic acid 10, tetratriacontane 11, 7-dehydrodiosgenin 12, lupeol 13, stigmasta-3,5-diene-7-one 14, friedelan-3-one (friedelin 15, and 1-octacosanol 16. Using agar over lay method, the preliminary antimicrobial assay for the extracts was carried out against bacterial (E. coli, P. aeruginosa, B. subtilis, S. aueus and a fungus/yeast (C. albicans strains. The n-hexane and chloroform extracts of A. adianthifolia showed the best activity against E. coli with minimum inhibition quantity (MIQ of 1 µg each while the remaining exhibited moderate-to-weak activity against the test microorganisms.

  15. Satellite geological and geophysical remote sensing of Iceland: Preliminary results from analysis of MSS imagery

    Science.gov (United States)

    Williams, R. S., Jr.; Boedvarsson, A.; Fridriksson, S.; Palmason, G.; Rist, S.; Sigtryggsson, H.; Thorarinsson, S.; Thorsteinsson, I.

    1973-01-01

    A binational, multidisciplinary research effort in Iceland is directed at an analysis of MSS imagery from ERTS-1 to study a variety of geologic, hydrologic, oceanographic, and agricultural phenomena. A preliminary evaluation of available MSS imagery of Iceland has yielded several significant results - some of which may have direct importance to the Icelandic economy. Initial findings can be summarized as follows: (1) recent lava flows can be delineated from older flows at Askja and Hekla; (2) MSS imagery from ERTS-1 and VHRR visible and infrared imagery from NOAA-2 recorded the vocanic eruption on Heimaey, Vestmann Islands; (3) coastline changes, particularly changes in the position of bars and beaches along the south coast are mappable; and (4) areas covered with new and residual snow can be mapped, and the appearance of newly fallen snow on ERTS-1, MSS band 7 appears dark where it is melting. ERTS-1 imagery provides a means of updating various types of maps of Iceland and will permit the compilation of special maps specifically aimed at those dynamic environmental phenomena which impact on the Icelandic economy.

  16. Analysis of the preliminary optical links between ARTEMIS and the Optical Ground Station

    Science.gov (United States)

    Reyes Garcia-Talavera, Marcos; Chueca, Sergio; Alonso, Angel; Viera, Teodora; Sodnik, Zoran

    2002-12-01

    In the frame of the SILEX project, the European Space Agency (ESA) has put into orbit two Laser Communication Terminals, to establish an experimental free space optical communication link between a GEO satellite (ARTEMIS) and a LEO satellite (SPOT IV), to relay earth observation data. In order to perform In Orbit Testing (IOT) of these, and other, optical communications systems, ESA and the Instituto de Astrofisica de Canarias (IAC) reached an agreement for building the Optical Ground Station (OGS), in the Teide Observatory of the IAC. With ARTEMIS placed in a circular parking orbit at about 31000 kilometres, its optical payload has been preliminary tested with the OGS. First results and analysis are presented on the space-to-ground bi-directional link, including pointing acquisition and tracking performance, Bit-Error Rate (BER) and transmitted beam divergence effects related with atmospheric models and predictions. Future plans include deeper optical bi-directional communication tests of OGS, not only with ARTEMIS but also with OSCAR-40 (downlink) and SMART-1 (up-link) satellites, in order to do a full characterisation of the performances of laser beam propagation through atmospheric turbulence and a comparison with theoretical predictions.

  17. Marine Traffic Density Over Port Klang, Malaysia Using Statistical Analysis of AIS Data: A Preliminary Study

    Directory of Open Access Journals (Sweden)

    Masnawi MUSTAFFA

    2016-12-01

    Full Text Available Port Klang Malaysia is the 13th busiest port in the world, the capacity at the port expected to be able to meet the demand until 2018. It is one of the busiest ports in the world and also the busiest port in Malaysia. Even though there are statistics published by Port Klang Authority showing that a lot of ships using this port, this number is only based on ships that entering Port Klang. Therefore, no study has been done to investigate on how dense the traffic is in Port Klang, Malaysia the surrounding sea including Strait of Malacca . This paper has investigated on traffic density over Port Klang Malaysia and its surrounding sea using statistical analysis from AIS data. As a preliminary study, this study only collected AIS data for 7 days to represent daily traffic weekly. As a result, an hourly number of vessels, daily number of vessels, vessels classification and sizes and also traffic paths will be plotted.

  18. GC-MS Analysis and Preliminary Antimicrobial Activity of Albizia adianthifolia (Schumach) and Pterocarpus angolensis (DC).

    Science.gov (United States)

    Abubakar, Mustapha N; Majinda, Runner R T

    2016-01-28

    The non-polar components of two leguminoceae species Albizia adianthifolia (Schumach), and Pterocarpus angolensis (DC) were investigated. GC-MS analysis of the crude n-hexane and chloroform extracts together with several chromatographic separation techniques led to the identification and characterization (using NMR) of sixteen known compounds from the heartwood and stem bark of Albizia adianthifolia and Pterocarpus angolensis respectively. These constituents include, n-hexadecanoic acid (palmitic acid) 1, oleic acid 2, chondrillasterol 3, stigmasterol 4, 24S 5α-stigmast-7-en-3β-ol 5, 9,12-octadecadienoic acid (Z,Z)-, methyl ester 6, trans-13-octadecanoic acid, methyl ester 7, tetradecanoic acid 8, hexadecanoic acid, methyl ester 9, octadecanoic acid 10, tetratriacontane 11, 7-dehydrodiosgenin 12, lupeol 13, stigmasta-3,5-diene-7-one 14, friedelan-3-one (friedelin) 15, and 1-octacosanol 16. Using agar over lay method, the preliminary antimicrobial assay for the extracts was carried out against bacterial (E. coli, P. aeruginosa, B. subtilis, S. aueus) and a fungus/yeast (C. albicans) strains. The n-hexane and chloroform extracts of A. adianthifolia showed the best activity against E. coli with minimum inhibition quantity (MIQ) of 1 µg each while the remaining exhibited moderate-to-weak activity against the test microorganisms.

  19. Bioinformatics analysis of the gene expression profile of hepatocellular carcinoma: preliminary results

    Science.gov (United States)

    Li, Jia

    2016-01-01

    Aim of the study To analyse the expression profile of hepatocellular carcinoma compared with normal liver by using bioinformatics methods. Material and methods In this study, we analysed the microarray expression data of HCC and adjacent normal liver samples from the Gene Expression Omnibus (GEO) database to screen for differentially expressed genes. Then, functional analyses were performed using GenCLiP analysis, Gene Ontology categories, and aberrant pathway identification. In addition, we used the CMap database to identify small molecules that can induce HCC. Results Overall, 2721 differentially expressed genes (DEGs) were identified. We found 180 metastasis-related genes and constructed co-occurrence networks. Several significant pathways, including the transforming growth factor β (TGF-β) signalling pathway, were identified as closely related to these DEGs. Some candidate small molecules (such as betahistine) were identified that might provide a basis for developing HCC treatments in the future. Conclusions Although we functionally analysed the differences in the gene expression profiles of HCC and normal liver tissues, our study is essentially preliminary, and it may be premature to apply our results to clinical trials. Further research and experimental testing are required in future studies. PMID:27095935

  20. Occupant evaluation of commercial office lighting: Volume 2, Preliminary data analysis

    Energy Technology Data Exchange (ETDEWEB)

    Marans, R.W.; Brown, M.A. (ed.)

    1987-11-01

    This report presents the preliminary results of a post-occupancy evaluation of office lighting environments. It explores the relationship between quantitative measures of lighting in occupied environments and qualitative measures related to occupant satisfaction. The report analyzes several types of data from more than 1000 occupied work stations: subjective data on attitudes and ratings of selected lighting and other characteristics, photometric and other direct environmental data, including illuminances, luminances, and contrast conditions, indirect environmental measures obtained from the architectural drawings and the work station photographs, and descriptive characteristics of the occupants. The work stations were sampled from thirteen office buildings located in various cities in the United States. Many tentative findings emerged from the analysis, including the following: (1) within the range of values examined here, there is a tendency for lighting satisfaction to decrease as lighting power density increases; (2) occupants who described their work station spaces as bright also tended to be satisfied with their work station lighting; (3) occupants who were most bothered by bright lights and glare were most likely to express dissatisfaction with the lighting at their work stations; (4) there is no relationship between work-related activities of employees and indicators of lighting quality. More research is needed before firm conclusions can be drawn and before guidance regarding lighting standards and other policy issues can be derived. 3 refs., 9 figs.

  1. Accelerating epistasis analysis in human genetics with consumer graphics hardware

    Directory of Open Access Journals (Sweden)

    Cancare Fabio

    2009-07-01

    performance while leaving the CPU available for other tasks. The GPU workstation containing three GPUs costs $2000 while obtaining similar performance on a Beowulf cluster requires 150 CPU cores which, including the added infrastructure and support cost of the cluster system, cost approximately $82,500. Conclusion Graphics hardware based computing provides a cost effective means to perform genetic analysis of epistasis using MDR on large datasets without the infrastructure of a computing cluster.

  2. Hydrothermal Liquefaction and Upgrading of Municipal Wastewater Treatment Plant Sludge: A Preliminary Techno-Economic Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Snowden-Swan, Lesley J. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Zhu, Yunhua [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Jones, Susanne B. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Elliott, Douglas C. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Schmidt, Andrew J. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Hallen, Richard T. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Billing, Justin M. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Hart, Todd R. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Fox, Samuel P. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Maupin, Gary D. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States)

    2016-06-08

    A preliminary process model and techno-economic analysis (TEA) was completed for fuel produced from hydrothermal liquefaction (HTL) of sludge waste from a municipal wastewater treatment plant (WWTP) and subsequent biocrude upgrading. The model is adapted from previous work by Jones et al. (2014) for algae HTL, using experimental data generated in fiscal year 2015 (FY15) bench-scale HTL testing of sludge waste streams. Testing was performed on sludge samples received from MetroVancouver’s Annacis Island WWTP (Vancouver, B.C.) as part of a collaborative project with the Water Environment and Reuse Foundation (WERF). The full set of sludge HTL testing data from this effort will be documented in a separate report to be issued by WERF. This analysis is based on limited testing data and therefore should be considered preliminary. Future refinements are necessary to improve the robustness of the model, including a cross-check of modeled biocrude components with the experimental GCMS data and investigation of equipment costs most appropriate at the smaller scales used here. Environmental sustainability metrics analysis is also needed to understand the broader impact of this technology pathway. The base case scenario for the analysis consists of 10 HTL plants, each processing 100 dry U.S. ton/day (92.4 ton/day on a dry, ash-free basis) of sludge waste and producing 234 barrel per stream day (BPSD) biocrude, feeding into a centralized biocrude upgrading facility that produces 2,020 barrel per standard day of final fuel. This scale was chosen based upon initial wastewater treatment plant data collected by the resource assessment team from the EPA’s Clean Watersheds Needs Survey database (EPA 2015a) and a rough estimate of what the potential sludge availability might be within a 100-mile radius. In addition, we received valuable feedback from the wastewater treatment industry as part of the WERF collaboration that helped form the basis for the selected HTL and upgrading

  3. Comprehensive assessment and network analysis of the emerging genetic susceptibility landscape of prostate cancer.

    Science.gov (United States)

    Hicks, Chindo; Miele, Lucio; Koganti, Tejaswi; Vijayakumar, Srinivasan

    2013-01-01

    Recent advances in high-throughput genotyping have made possible identification of genetic variants associated with increased risk of developing prostate cancer using genome-wide associations studies (GWAS). However, the broader context in which the identified genetic variants operate is poorly understood. Here we present a comprehensive assessment, network, and pathway analysis of the emerging genetic susceptibility landscape of prostate cancer. We created a comprehensive catalog of genetic variants and associated genes by mining published reports and accompanying websites hosting supplementary data on GWAS. We then performed network and pathway analysis using single nucleotide polymorphism (SNP)-containing genes to identify gene regulatory networks and pathways enriched for genetic variants. We identified multiple gene networks and pathways enriched for genetic variants including IGF-1, androgen biosynthesis and androgen signaling pathways, and the molecular mechanisms of cancer. The results provide putative functional bridges between GWAS findings and gene regulatory networks and biological pathways.

  4. Brook trout (Salvelinus fontinalis extinction in small boreal lakes revealed by ephippia pigmentation: a preliminary analysis

    Directory of Open Access Journals (Sweden)

    Alexandre Bérubé Tellier

    2016-12-01

    Full Text Available Ephippium pigmentation is a plastic trait which can be related to a trade-off between visual predation pressure and better protection of cladoceran eggs against different types of stress. Experimental studies showed that planktivorous fish exert a greater predation pressure on individuals carrying darker ephippia, but little is known about the variation of ephippium pigmentation along gradients of fish predation pressure in natural conditions. For this study, our experimental design included four small boreal lakes with known fish assemblages. Two of the lakes have viable brook trout (Salvelinus fontinalis populations, whereas the other two lakes experienced brook trout extinctions during the 20th century. Cladoceran ephippia were extracted from sediment cores at layers corresponding to the documented post- extinction phase (1990's and from an older layer (1950's for which the brook trout population status is not known precisely. Our first objective was to determine whether brook trout extinction has a direct effect on both ephippium pigmentation and size. Our second objective was to give a preliminary assessment of the status of brook trout populations in the 1950's by comparing the variation in ephippia traits measured from this layer to those measured in the 1990's, for which the extinction patterns are well known. Cost-effective image analysis was used to assess variation in pigmentation levels in ephippia. This approach provided a proxy for the amount of melanin invested in each ephippium analysed. Our study clearly shows that ephippium pigmentation may represent a better indicator of the presence of fish predators than ephippium size, a trait that showed a less clear pattern of variation between lakes with and without fish. For the 1990's period, ephippia from fishless lakes were darker and showed a slight tendency to be larger than ephippia from lakes with brook trout. However, no clear differences in either ephippium size or pigmentation

  5. Genetic Analysis of Micro-environmental Plasticity in Drosophila melanogaster

    DEFF Research Database (Denmark)

    Morgante, Fabio; Sorensen, Daniel A; Sørensen, Peter

    Quantitative genetic models recognize the potential for genotype by environment interaction, whereby different genotypes have different plastic responses to changes in macro-environmental conditions. Recently, it has been recognized that micro-environmental plasticity (‘residual’ variance) may also...... be genetically variable. This study utilized the Drosophila Genetic Reference Panel (DGRP) to accurately estimate the genetic variance of micro-environmental plasticity for chill coma recovery time and startle response. Estimates of broad sense heritabilities for both traits are substantial (from 0.51 to 0.......77), of the same order as the heritability at the level of the trait mean for startle response and even larger for chill coma recovery. Genome wide association analyses identified molecular variants (from 15 to 31 depending on the sex and the trait) associated with micro-environmental plasticity. These findings...

  6. RAPD analysis for genetic diversity of two populations of Mystus ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-09-01

    Sep 1, 2009 ... Figure 4. Phylogenetic tree constructed by similarity coefficient (Jaccard's). ... Its cost effectiveness provides an advantage in popula- tion genetic .... in Chatla Haor, a floodplain wetland in Cachar district of Assam. Environ.

  7. Genetic Analysis of Micro-environmental Plasticity in Drosophila melanogaster

    DEFF Research Database (Denmark)

    Morgante, Fabio; Sorensen, Daniel A; Sørensen, Peter;

    Quantitative genetic models recognize the potential for genotype by environment interaction, whereby different genotypes have different plastic responses to changes in macro-environmental conditions. Recently, it has been recognized that micro-environmental plasticity (‘residual’ variance) may also...... be genetically variable. This study utilized the Drosophila Genetic Reference Panel (DGRP) to accurately estimate the genetic variance of micro-environmental plasticity for chill coma recovery time and startle response. Estimates of broad sense heritabilities for both traits are substantial (from 0.51 to 0.......77), of the same order as the heritability at the level of the trait mean for startle response and even larger for chill coma recovery. Genome wide association analyses identified molecular variants (from 15 to 31 depending on the sex and the trait) associated with micro-environmental plasticity. These findings...

  8. Killer Whale Genetic Data - Southern resident killer whale pedigree analysis

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In this project, we are using genetic variation to infer mating patterns in the southern killer whale community. In Canada, this population was listed as threatened...

  9. Analysis of Genetic diversity and reltionships in local Tunisian barley ...

    African Journals Online (AJOL)

    Yomi

    Key words: Barley, RAPD markers, SSR markers, genetic diversity. INTRODUCTION. Barley ... surveyed by each kind of marker, their distribution ..... that belong to the Center. ..... tagged-site facilitated PCR for barley genome mapping. Theor.

  10. analysis of genetic diversity in linseed using aflp markers

    African Journals Online (AJOL)

    ADMIN

    environments, enhanced resistance to pathogens, pests and other ... parental genotypes are often selected on the basis of phenotypic ..... M. Sc. Thesis, ... Genotype-environment interactions and ... genetic diversity assessment among wheat.

  11. Smoking and caffeine consumption: A genetic analysis of their association

    NARCIS (Netherlands)

    Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.R.; Vink, J.M.

    2017-01-01

    Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

  12. Morphological characterization and genetic analysis of Drechslera teres isolates

    OpenAIRE

    Frazzon, A.P.G.; A.T.S. Matsumura; S.T.Van Der Sand

    2002-01-01

    Net blotch, caused by the phytopathogen Drechslera teres, is a common disease of barley (Hordeum vulgare L) and is responsible for large economic losses in some barley growing areas. In this study the morphology and genetic variability of eight D. teres isolates from different regions of the Brazilian state of Rio Grande do Sul were investigated. Colony morphology was studied on potato-dextrose-agar (PDA) and genetic variability investigated using the random amplified polymorphic-DNA (RAPD) t...

  13. Genetic and genomic analysis of RNases in model cyanobacteria.

    Science.gov (United States)

    Cameron, Jeffrey C; Gordon, Gina C; Pfleger, Brian F

    2015-10-01

    Cyanobacteria are diverse photosynthetic microbes with the ability to convert CO2 into useful products. However, metabolic engineering of cyanobacteria remains challenging because of the limited resources for modifying the expression of endogenous and exogenous biochemical pathways. Fine-tuned control of protein production will be critical to optimize the biological conversion of CO2 into desirable molecules. Messenger RNAs (mRNAs) are labile intermediates that play critical roles in determining the translation rate and steady-state protein concentrations in the cell. The majority of studies on mRNA turnover have focused on the model heterotrophic bacteria Escherichia coli and Bacillus subtilis. These studies have elucidated many RNA modifying and processing enzymes and have highlighted the differences between these Gram-negative and Gram-positive bacteria, respectively. In contrast, much less is known about mRNA turnover in cyanobacteria. We generated a compendium of the major ribonucleases (RNases) and provide an in-depth analysis of RNase III-like enzymes in commonly studied and diverse cyanobacteria. Furthermore, using targeted gene deletion, we genetically dissected the RNases in Synechococcus sp. PCC 7002, one of the fastest growing and industrially attractive cyanobacterial strains. We found that all three cyanobacterial homologs of RNase III and a member of the RNase II/R family are not essential under standard laboratory conditions, while homologs of RNase E/G, RNase J1/J2, PNPase, and a different member of the RNase II/R family appear to be essential for growth. This work will enhance our understanding of native control of gene expression and will facilitate the development of an RNA-based toolkit for metabolic engineering in cyanobacteria.

  14. Development of Pineapple Microsatellite Markers and Germplasm Genetic Diversity Analysis

    Directory of Open Access Journals (Sweden)

    Suping Feng

    2013-01-01

    Full Text Available Two methods were used to develop pineapple microsatellite markers. Genomic library-based SSR development: using selectively amplified microsatellite assay, 86 sequences were generated from pineapple genomic library. 91 (96.8% of the 94 Simple Sequence Repeat (SSR loci were dinucleotide repeats (39 AC/GT repeats and 52 GA/TC repeats, accounting for 42.9% and 57.1%, resp., and the other three were mononucleotide repeats. Thirty-six pairs of SSR primers were designed; 24 of them generated clear bands of expected sizes, and 13 of them showed polymorphism. EST-based SSR development: 5659 pineapple EST sequences obtained from NCBI were analyzed; among 1397 nonredundant EST sequences, 843 were found containing 1110 SSR loci (217 of them contained more than one SSR locus. Frequency of SSRs in pineapple EST sequences is 1SSR/3.73 kb, and 44 types were found. Mononucleotide, dinucleotide, and trinucleotide repeats dominate, accounting for 95.6% in total. AG/CT and AGC/GCT were the dominant type of dinucleotide and trinucleotide repeats, accounting for 83.5% and 24.1%, respectively. Thirty pairs of primers were designed for each of randomly selected 30 sequences; 26 of them generated clear and reproducible bands, and 22 of them showed polymorphism. Eighteen pairs of primers obtained by the one or the other of the two methods above that showed polymorphism were selected to carry out germplasm genetic diversity analysis for 48 breeds of pineapple; similarity coefficients of these breeds were between 0.59 and 1.00, and they can be divided into four groups accordingly. Amplification products of five SSR markers were extracted and sequenced, corresponding repeat loci were found and locus mutations are mainly in copy number of repeats and base mutations in the flanking region.

  15. Preliminary Analysis of Effects of Reduced Discharge onThermal Habitat of Pedersen Warm Springs Channel

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — A preliminary report to study the potential impacts of possible flow reductions in thermal spring systems located in the Warm Springs area of Moapa Valley NWR on the...

  16. Basic principles and laboratory analysis of genetic variation.

    Science.gov (United States)

    Gonzalez-Bosquet, Jesus; Chanock, Stephen J

    2011-01-01

    With the draft of the human genome and advances in technology, the approach toward mapping complex diseases and traits has changed. Human genetics has evolved into the study of the genome as a complex structure harbouring clues for multifaceted disease risk with the majority still unknown. The discovery of new candidate regions by genome-wide association studies (GWAS) has changed strategies for the study of genetic predisposition. More genome-wide, "agnostic" approaches, with increasing numbers of participants from high-quality epidemiological studies are for the first time replicating results in different settings. However, new-found regions (which become the new candidate "genes") require extensive follow-up and investigation of their functional significance. Understanding the true effect of genetic variability on the risk of complex diseases is paramount. The importance of designing high-quality studies to assess environmental contributions, as well as the interactions between genes and exposures, cannot be stressed enough. This chapter will address the basic issues of genetic variation, including population genetics, as well as analytical platforms and tools needed to investigate the contribution of genetics to human diseases and traits.

  17. Pharmacognostic and Preliminary Phytochemical Analysis of Sauropus androgynus (L) Merr. Leaf

    OpenAIRE

    Ankad Gireesh; Hegde Harsha; Kholkute S.D; Hurkadale Pramod

    2013-01-01

    The leaves of Sauropus androgynus (L.) Merr. are used in traditional medicine to treat various disorders and also used as vegetable for its nutritive value. Such plant having medicinal and nutritive values lacks pharmacognostical and preliminary phytochemical information. Hence the present work is intended to study pharmacognostical and preliminary phytochemical studies, which will serve as quality control parameters. The pharmacognostical parameters like transverse section of midrib, epiderm...

  18. Volume analysis of heat-induced cracks in human molars: A preliminary study

    Directory of Open Access Journals (Sweden)

    Michael A. Sandholzer

    2014-01-01

    Full Text Available Context: Only a few methods have been published dealing with the visualization of heat-induced cracks inside bones and teeth. Aims : As a novel approach this study used nondestructive X-ray microtomography (micro-CT for volume analysis of heat-induced cracks to observe the reaction of human molars to various levels of thermal stress. Materials and Methods: Eighteen clinically extracted third molars were rehydrated and burned under controlled temperatures (400, 650, and 800°C using an electric furnace adjusted with a 25°C increase/min. The subsequent high-resolution scans (voxel-size 17.7 μm were made with a compact micro-CT scanner (SkyScan 1174. In total, 14 scans were automatically segmented with Definiens XD Developer 1.2 and three-dimensional (3D models were computed with Visage Imaging Amira 5.2.2. The results of the automated segmentation were analyzed with an analysis of variance (ANOVA and uncorrected post hoc least significant difference (LSD tests using Statistical Package for Social Sciences (SPSS 17. A probability level of P < 0.05 was used as an index of statistical significance. Results: A temperature-dependent increase of heat-induced cracks was observed between the three temperature groups (P < 0.05, ANOVA post hoc LSD. In addition, the distributions and shape of the heat-induced changes could be classified using the computed 3D models. Conclusion: The macroscopic heat-induced changes observed in this preliminary study correspond with previous observations of unrestored human teeth, yet the current observations also take into account the entire microscopic 3D expansions of heat-induced cracks within the dental hard tissues. Using the same experimental conditions proposed in the literature, this study confirms previous results, adds new observations, and offers new perspectives in the investigation of forensic evidence.

  19. Early detection of breast cancer using total biochemical analysis of peripheral blood components: a preliminary study.

    Science.gov (United States)

    Zelig, Udi; Barlev, Eyal; Bar, Omri; Gross, Itai; Flomen, Felix; Mordechai, Shaul; Kapelushnik, Joseph; Nathan, Ilana; Kashtan, Hanoch; Wasserberg, Nir; Madhala-Givon, Osnat

    2015-05-15

    Most of the blood tests aiming for breast cancer screening rely on quantification of a single or few biomarkers. The aim of this study was to evaluate the feasibility of detecting breast cancer by analyzing the total biochemical composition of plasma as well as peripheral blood mononuclear cells (PBMCs) using infrared spectroscopy. Blood was collected from 29 patients with confirmed breast cancer and 30 controls with benign or no breast tumors, undergoing screening for breast cancer. PBMCs and plasma were isolated and dried on a zinc selenide slide and measured under a Fourier transform infrared (FTIR) microscope to obtain their infrared absorption spectra. Differences in the spectra of PBMCs and plasma between the groups were analyzed as well as the specific influence of the relevant pathological characteristics of the cancer patients. Several bands in the FTIR spectra of both blood components significantly distinguished patients with and without cancer. Employing feature extraction with quadratic discriminant analysis, a sensitivity of ~90 % and a specificity of ~80 % for breast cancer detection was achieved. These results were confirmed by Monte Carlo cross-validation. Further analysis of the cancer group revealed an influence of several clinical parameters, such as the involvement of lymph nodes, on the infrared spectra, with each blood component affected by different parameters. The present preliminary study suggests that FTIR spectroscopy of PBMCs and plasma is a potentially feasible and efficient tool for the early detection of breast neoplasms. An important application of our study is the distinction between benign lesions (considered as part of the non-cancer group) and malignant tumors thus reducing false positive results at screening. Furthermore, the correlation of specific spectral changes with clinical parameters of cancer patients indicates for possible contribution to diagnosis and prognosis.

  20. Preliminary design of a small air loop for system analysis and validation of Cathare code

    Energy Technology Data Exchange (ETDEWEB)

    Marchand, M.; Saez, M.; Tauveron, N.; Tenchine, D.; Germain, T.; Geffraye, G.; Ruby, G.P. [CEA Grenoble (DEN/DER/SSTH), 38 (France)

    2007-07-01

    The French Atomic Energy Commission (Cea) is carrying on the design of a Small Air Loop for System Analysis (SALSA), devoted to the study of gas cooled nuclear reactors behaviour in normal and incidental/accidental operating conditions. The reduced size of the SALSA components compared to a full-scale reactor and air as gaseous coolant instead of Helium will allow an easy management of the loop. The main purpose of SALSA will be the validation of the associated thermal hydraulic safety simulation codes, like CATHARE. The main goal of this paper is to present the methodology used to define the characteristics of the loop. In a first step, the study has been focused on a direct-cycle system for the SALSA loop with few global constraints using a similarity analysis to support the definition and design of the loop. Similarity requirements have been evaluated to determine the scale factors which have to be applied to the SALSA loop components. The preliminary conceptual design of the SALSA plant with a definition of each component has then be carried out. The whole plant has been modelled using the CATHARE code. Calculations of the SALSA steady-state in nominal conditions and of different plant transients in direct-cycle have been made. The first system results obtained on the global behaviour of the loop confirm that SALSA can be representative of a Gas-Cooled nuclear reactor with some minor design modifications. In a second step, the current prospects focus on the SALSA loop capability to reproduce correctly the heat transfer occurring in specific incidental situations. Heat decay removal by natural convection is a crucial point of interest. The first results show that the behaviour and the efficiency of the loop are strongly influenced by the definition of the main parameters for each component. A complete definition of SALSA is under progress. (authors)

  1. An evaluation of the Positive Emotional Experiences Scale: A preliminary analysis

    Directory of Open Access Journals (Sweden)

    Rene van Wyk

    2016-04-01

    Full Text Available Orientation: The positive organisational behaviour movement emphasises the advantages of psychological strengths in business. The psychological virtues of positive emotional experiences can potentially promote human strengths to the advantages of business functioning and the management of work conditions. This is supported by Fredrickson’s broaden-and-build theory that emphasises the broadening of reactive thought patterns through experiences of positive emotions.Research purpose: A preliminary psychometric evaluation of a positive measurement of dimensions of emotional experiences in the workplace, by rephrasing the Kiefer and Barclay Toxic Emotional Experiences Scale.Motivation for the study: This quantitative Exploratory Factor Analysis investigates the factorial structure and reliability of the Positive Emotional Experiences Scale, a positive rephrased version of the Toxic Emotional Experiences Scale.Research approach, design and method: This Exploratory Factor Analysis indicates an acceptable three-factor model for the Positive Emotional Experiences Scale. These three factors are: (1 psychological recurrent positive state, (2 social connectedness and (3 physical refreshed energy, with strong Cronbach’s alphas of 0.91, 0.91 and 0.94, respectively.Main findings: The three-factor model of the Positive Emotional Experiences Scale provides a valid measure in support of Fredrickson’s theory of social, physical and psychological endured personal resources that build positive emotions.Practical/Managerial implications: Knowledge gained on positive versus negative emotional experiences could be applied by management to promote endured personal resources that strengthen positive emotional experiences.Contribution/value-add: The contribution of this rephrased Positive Emotional Experiences Scale provides a reliable measure of assessment of the social, physical and endured psychological and personal resources identified in Fredrickson’s broaden

  2. Crystallization and preliminary X-ray diffraction analysis of L-threonine dehydrogenase (TDH) from the hyperthermophilic archaeon Thermococcus kodakaraensis.

    Science.gov (United States)

    Bowyer, A; Mikolajek, H; Wright, J N; Coker, A; Erskine, P T; Cooper, J B; Bashir, Q; Rashid, N; Jamil, F; Akhtar, M

    2008-09-01

    The enzyme L-threonine dehydrogenase catalyses the NAD(+)-dependent conversion of L-threonine to 2-amino-3-ketobutyrate, which is the first reaction of a two-step biochemical pathway involved in the metabolism of threonine to glycine. Here, the crystallization and preliminary crystallographic analysis of L-threonine dehydrogenase (Tk-TDH) from the hyperthermophilic organism Thermococcus kodakaraensis KOD1 is reported. This threonine dehydrogenase consists of 350 amino acids, with a molecular weight of 38 kDa, and was prepared using an Escherichia coli expression system. The purified native protein was crystallized using the hanging-drop vapour-diffusion method and crystals grew in the tetragonal space group P4(3)2(1)2, with unit-cell parameters a = b = 124.5, c = 271.1 A. Diffraction data were collected to 2.6 A resolution and preliminary analysis indicates that there are four molecules in the asymmetric unit of the crystal.

  3. - and Syn-Eruptive Surface Movements of Azerbaijan Mud Volcanoes Detected Through Insar Analysis: Preliminary Results

    Science.gov (United States)

    Antonielli, Benedetta; Monserrat, Oriol; Bonini, Marco; Righini, Gaia; Sani, Federico; Luzi, Guido; Feyzullayev, Akper; Aliyev, Chingiz

    2014-05-01

    Mud volcanism is a process that consists in the extrusion of mud, fragments or blocks of country rocks, saline waters and gases, mostly methane. This mechanism is typically linked to in-depth hydrocarbon traps, and it builds up a variety of conical edifices with dimension and morphology similar to those of magmatic volcanoes. Interferometry by Satellite Aperture Radar (InSAR) techniques have been commonly used to monitor and investigate the ground deformation connected to the eruptive phases of magmatic volcanoes. InSAR techniques have also been employed to explore the ground deformation associated with the LUSI mud volcano in Java (Indonesia). We aim to carry out a study on the paroxysmal activities of the Azerbaijan mud volcanoes, among the largest on Earth, using similar techniques. In particular the deformations of the mud volcanic systems were analyzed through the technique of satellite differential interferometry (DInSAR), thanks to the acquisition of 16 descending and 4 ascending Envisat images, spanning about 4 years (October 2003-November 2007); these data were provided by the European Space Agency. The preliminary analysis of a set of 77 interferograms and the unwrapping process elaboration of some of them selected according to the best coherence values, allowed the detection of significant deformations in correspondence of Ayaz-Akhtarma and Khara Zira Island mud volcanoes. This analysis has allowed to identify relevant ground deformations of the volcanic systems in connection with the main eruptive events in 2005 and in 2006 respectively, that are recorded by the catalogue of Azerbaijan mud volcano eruptions until 2007. The preliminary analysis of the interferograms of the Ayaz-Akhtarma and the Khara Zira mud volcanoes shows that the whole volcano edifice or part of it is subject to a ground displacement before or in coincidence with the eruption. Assuming that the movement is mainly vertical, we suppose that deformation is due to bulging of the volcanic

  4. The optimal design for hypothesis test and its application in genetic linkage analysis

    Institute of Scientific and Technical Information of China (English)

    XIE; Minyu(谢民育); LI; Zhaohai(李照海)

    2003-01-01

    This paper proposes a class of linear models with inequable variance, based on background in genetic linkage analysis, and considers the optimal design problem for the hypothesis test of the parameters in such models. To assess a design for the test, a frame of decision theory is established. Under this frame, an admissible minimax design is obtained. It is shown to be not only admissible and minimax in genetic linkage analysis, but best among a reasonable subclass of designs. The power of the test in genetic linkage analysis is substantially improved by using this optimal design.

  5. Flow cytometric analysis of oil palm: a preliminary analysis for cultivars and genomic DNA alteration

    Directory of Open Access Journals (Sweden)

    Warawut Chuthammathat

    2005-12-01

    Full Text Available DNA contents of oil palm (Elaeis guineensis Jacq. cultivars were analyzed by flow cytometry using different external reference plant species. Analysis using corn (Zea mays line CE-777 as a reference plant gave the highest DNA content of oil palm (4.72±0.23 pg 2C-1 whereas the DNA content was found to be lower when using soybean (Glycine max cv. Polanka (3.77±0.09 pg 2C-1 or tomato (Lycopersicon esculentum cv. Stupicke (4.25±0.09 pg 2C-1 as a reference. The nuclear DNA contents of Dura (D109, Pisifera (P168 and Tenera (T38 cultivars were 3.46±0.04, 3.24±0.03 and 3.76±0.04 pg 2C-1 nuclei, respectively, using soybean as a reference. One haploid genome of oil palm therefore ranged from 1.56 to 1.81±109 base pairs. DNA contents from one-year-old calli and cell suspension of oil palm were found to be significantly different from those of seedlings. It thus should be noted that genomic DNA alteration occurred in these cultured tissues. We therefore confirm that flow cytometric analysis could verify cultivars, DNA content and genomic DNA alteration of oil palm using soybean as an external reference standard.

  6. Applications of Photogrammetry for Analysis of Forest Plantations. Preliminary study: Analysis of individual trees

    Science.gov (United States)

    Mora, R.; Barahona, A.; Aguilar, H.

    2015-04-01

    This paper presents a method for using high detail volumetric information, captured with a land based photogrammetric survey, to obtain information from individual trees. Applying LIDAR analysis techniques it is possible to measure diameter at breast height, height at first branch (commercial height), basal area and volume of an individual tree. Given this information it is possible to calculate how much of that tree can be exploited as wood. The main objective is to develop a methodology for successfully surveying one individual tree, capturing every side of the stem a using high resolution digital camera and reference marks with GPS coordinates. The process is executed for several individuals of two species present in the metropolitan area in San Jose, Costa Rica, Delonix regia (Bojer) Raf. and Tabebuia rosea (Bertol.) DC., each one with different height, stem shape and crown area. Using a photogrammetry suite all the pictures are aligned, geo-referenced and a dense point cloud is generated with enough detail to perform the required measurements, as well as a solid tridimensional model for volume measurement. This research will open the way to develop a capture methodology with an airborne camera using close range UAVs. An airborne platform will make possible to capture every individual in a forest plantation, furthermore if the analysis techniques applied in this research are automated it will be possible to calculate with high precision the exploit potential of a forest plantation and improve its management.

  7. Genetic analysis of the complete maintainer for genetic-male-sterility in upland cotton

    Institute of Scientific and Technical Information of China (English)

    毛正轩; 黄观武; 孙贞; 苟云高; 杨泽湖; 江卫; 毛素珍

    1995-01-01

    The inheritance of the complete maintainer for Dong A-type genetic-male-sterility (GMS) in cotton was controlled by one pair of recessive major genes for male-sterility and polygenic system for pollen-spreading character together. When a dominant major gene for fertility was present, the action of the polygenic system was concealed and GMS was inherited as a qualitative character conditioned by one pair of recessive genes. But when the major genes were homozygous recessive, the polygenic system manifested modificatory effects on GMS, making GMS plants spread some pollen or partially fertile Among the genie effects of polygenic system on pollen-spreading character, additive [d], dominance [h] and additive ×dominance epistasis [j] were all very significant, [d] and [j] were positive and [h] was negative. This type of genetic model is referred to as Major Gene-Polygene Interaction Model in Crops.

  8. A Behaviour-Genetic Analysis of Orthographic Learning, Spelling and Decoding

    Science.gov (United States)

    Byrne, Brian; Coventry, William L.; Olson, Richard K.; Hulslander, Jacqueline; Wadsworth, Sally; DeFries, John C.; Corley, Robin; Willcutt, Erik G.; Samuelsson, Stefan

    2008-01-01

    As part of a longitudinal twin study of literacy and language, we conducted a behaviour-genetic analysis of orthographic learning, spelling and decoding in Grade 2 children (225 identical and 214 fraternal twin pairs) in the United States and Australia. Each variable showed significant genetic and unique environment influences. Multivariate…

  9. A Behaviour-Genetic Analysis of Orthographic Learning, Spelling and Decoding

    Science.gov (United States)

    Byrne, Brian; Coventry, William L.; Olson, Richard K.; Hulslander, Jacqueline; Wadsworth, Sally; DeFries, John C.; Corley, Robin; Willcutt, Erik G.; Samuelsson, Stefan

    2008-01-01

    As part of a longitudinal twin study of literacy and language, we conducted a behaviour-genetic analysis of orthographic learning, spelling and decoding in Grade 2 children (225 identical and 214 fraternal twin pairs) in the United States and Australia. Each variable showed significant genetic and unique environment influences. Multivariate…

  10. Combined sequence-based and genetic mapping analysis of complex traits in outbred rats

    NARCIS (Netherlands)

    Baud, Amelie; Hermsen, Roel; Guryev, Victor; Stridh, Pernilla; Graham, Delyth; McBride, Martin W.; Foroud, Tatiana; Calderari, Sophie; Diez, Margarita; Ockinger, Johan; Beyeen, Amennai D.; Gillett, Alan; Abdelmagid, Nada; Guerreiro-Cacais, Andre Ortlieb; Jagodic, Maja; Tuncel, Jonatan; Norin, Ulrika; Beattie, Elisabeth; Huynh, Ngan; Miller, William H.; Koller, Daniel L.; Alam, Imranul; Falak, Samreen; Osborne-Pellegrin, Mary; Martinez-Membrives, Esther; Canete, Toni; Blazquez, Gloria; Vicens-Costa, Elia; Mont-Cardona, Carme; Diaz-Moran, Sira; Tobena, Adolf; Hummel, Oliver; Zelenika, Diana; Saar, Kathrin; Patone, Giannino; Bauerfeind, Anja; Bihoreau, Marie-Therese; Heinig, Matthias; Lee, Young-Ae; Rintisch, Carola; Schulz, Herbert; Wheeler, David A.; Worley, Kim C.; Muzny, Donna M.; Gibbs, Richard A.; Lathrop, Mark; Lansu, Nico; Toonen, Pim; Ruzius, Frans Paul; de Bruijn, Ewart; Hauser, Heidi; Adams, David J.; Keane, Thomas; Atanur, Santosh S.; Aitman, Tim J.; Flicek, Paul; Malinauskas, Tomas; Jones, E. Yvonne; Ekman, Diana; Lopez-Aumatell, Regina; Dominiczak, Anna F.; Johannesson, Martina; Holmdahl, Rikard; Olsson, Tomas; Gauguier, Dominique; Hubner, Norbert; Fernandez-Teruel, Alberto; Cuppen, Edwin; Mott, Richard; Flint, Jonathan

    2013-01-01

    Genetic mapping on fully sequenced individuals is transforming understanding of the relationship between molecular variation and variation in complex traits. Here we report a combined sequence and genetic mapping analysis in outbred rats that maps 355 quantitative trait loci for 122 phenotypes. We i

  11. Evaluation of terrestrial microcosms for detection, fate, and survival analysis of genetically engineered microorganisms and their recombinant genetic material

    Energy Technology Data Exchange (ETDEWEB)

    Fredrickson, J.K.; Seidler, R.J.

    1989-02-01

    The research included in this document represents the current scientific information available regarding the applicability of terrestrial microcosms and related methodologies for evaluating detection methods and the fate and survival of microorganisms in the environment. The three terrestrial microcosms described in this document were used to evaluate the survival and fate of recombinant bacteria in soils and in association with plant surfaces and insects and their transport through soil with percolating water and root systems, and to test new methods and procedures to improve detection and enumeration of bacteria in soil. Simple (potting soil composed of peat mix and perlite, lacking environmental control and monitoring) and complex microcosms (agricultural soil with partial control and monitoring of environmental conditions) were demonstrated to be useful tools for preliminary assessments of microbial viability in terrestrial ecosystems. These studies evaluated the survival patterns of Enterobacter cloacae (pBR322) in soil and on plant surfaces and the ingestion of this same microorganism by cutworms and survival in the foregut and frass. The Versacore microcosm design was used to monitor the fate and competitiveness of genetically engineered bacteria in soil. Both selective media and gene probes were used successfully to follow the fate of two recombinant Pseudomonas sp. introduced into Versacore microcosms. Intact soil-core microcosms were employed to evaluate the fate and transport of genetically altered Azospirillum sp. and Pseudomonas sp. in soil and the plant rhizosphere. The usefulness of these various microcosms as a tool for risk assessment is underscored by the ease in obtaining soil from a proposed field release site to evaluate subsequent GEM fate and survival.

  12. Advancing genetic theory and application by metabolic quantitative trait loci analysis.

    Science.gov (United States)

    Kliebenstein, Danielj

    2009-06-01

    This review describes recent advances in the analysis of metabolism using quantitative genetics. It focuses on how recent metabolic quantitative trait loci (QTL) studies enhance our understanding of the genetic architecture underlying naturally variable phenotypes and the impact of this fundamental research on agriculture, specifically crop breeding. In particular, the role of whole-genome duplications in generating quantitative genetic variation within a species is highlighted and the potential uses of this phenomenon presented. Additionally, the review describes how new observations from metabolic QTL mapping analyses are helping to shape and expand the concepts of genetic epistasis.

  13. Stochastic analysis and convergence velocity estimation of genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    郭观七; 喻寿益

    2003-01-01

    Formulizations of mutation and crossover operators independent of representation of solutions are proposed. A kind of precisely quantitative Markov chain of populations of standard genetic algorithms is modeled. It is proved that inadequate parameters of mutation and crossover probabilities degenerate standard genetic algorithm to a class of random search algorithms without selection bias toward any solution based on fitness. After introducing elitist reservation, the stochastic matrix of Markov chain of the best-so-far individual with the highest fitness is derived.The average convergence velocity of genetic algorithms is defined as the mathematical expectation of the mean absorbing time steps that the best-so-far individual transfers from any initial solution to the global optimum. Using the stochastic matrix of the best-so-far individual, a theoretic method and the computing process of estimating the average convergence velocity are proposed.

  14. Ecologically relevant stress resistance: from microarrays and quantitative trait loci to candidate genes – A research plan and preliminary results using Drosophila as a model organism and climatic and genetic stress as model stresses

    Indian Academy of Sciences (India)

    Volker Loeschcke; Jesper G Sørensen; Torsten N Kristensen

    2004-12-01

    We aim at studying adaptation to genetic and environmental stress and its evolutionary implications at different levels of biological organization. Stress influences cellular processes, individual physiology, genetic variation at the population level, and the process of natural selection. To investigate these highly connected levels of stress effects, it is advisable – if not critical – to integrate approaches from ecology, evolution, physiology, molecular biology and genetics. To investigate the mechanisms of stress resistance, how resistance evolves, and what factors contribute to and constrain its evolution, we use the well-defined model systems of Drosophila species, representing both cosmopolitan species such as D. melanogaster with a known genome map, and more specialized and ecologically well described species such as the cactophilic D. buzzatii. Various climate-related stresses are used as model stresses including desiccation, starvation, cold and heat. Genetic stress or genetic load is modelled by studying the consequences of inbreeding, the accumulation of (slightly) deleterious mutations, hybridization or the loss of genetic variability. We present here a research plan and preliminary results combining various approaches: molecular techniques such as microarrays, quantitative trait loci (QTL) analyses, quantitative PCR, ELISA or Western blotting are combined with population studies of resistance to climatic and genetic stress in natural populations collected across climatic gradients as well as in selection lines maintained in the laboratory.

  15. Genetic definition and sequence analysis of Arabidopsis centromeres.

    Science.gov (United States)

    Copenhaver, G P; Nickel, K; Kuromori, T; Benito, M I; Kaul, S; Lin, X; Bevan, M; Murphy, G; Harris, B; Parnell, L D; McCombie, W R; Martienssen, R A; Marra, M; Preuss, D

    1999-12-24

    High-precision genetic mapping was used to define the regions that contain centromere functions on each natural chromosome in Arabidopsis thaliana. These regions exhibited dramatic recombinational repression and contained complex DNA surrounding large arrays of 180-base pair repeats. Unexpectedly, the DNA within the centromeres was not merely structural but also encoded several expressed genes. The regions flanking the centromeres were densely populated by repetitive elements yet experienced normal levels of recombination. The genetically defined centromeres were well conserved among Arabidopsis ecotypes but displayed limited sequence homology between different chromosomes, excluding repetitive DNA. This investigation provides a platform for dissecting the role of individual sequences in centromeres in higher eukaryotes.

  16. Systems genetics analysis of pharmacogenomics variation during antidepressant treatment

    DEFF Research Database (Denmark)

    Madsen, M. B.; Kogelman, L. J. A.; Kadarmideen, H. N.

    2017-01-01

    Selective serotonin reuptake inhibitors (SSRIs) are the most widely used antidepressants, but the efficacy of the treatment varies significantly among individuals. It is believed that complex genetic mechanisms play a part in this variation. We have used a network based approach to unravel the in...... genes involved in calcium homeostasis. In conclusion, we suggest a difference in genetic interaction networks between initial and subsequent SSRI response.The Pharmacogenomics Journal advance online publication, 18 October 2016; doi:10.1038/tpj.2016.68....

  17. Genetic and Molecular Analysis of Suppressors of Ras Mutations

    Science.gov (United States)

    1999-10-01

    fication of vulval cell fates have defined many of the genes necessary for normal vulval differentiation (Korn- feld 1997; Stemberg and Han 1998... Stemberg . 1993. C. e]- egans Un-45 raf gene participates in let-60 ros-stimulated vulval differentiation. Nature 363: 133-140. Horvitz, H.R. and P.W... Stemberg , P.W. and M. Han. 1998. Genetics of Ras signaling in C. elegazss. Tiettds Genet. 14:466-472. Stewart, S., M. Sundaram, Y. Zhang, J. Lee, Y

  18. Genetic Analysis on Isoflavone Content in Soybean Seeds

    Institute of Scientific and Technical Information of China (English)

    SUN Jun-ming; DING An-lin; CHANG Ru-zhen

    2002-01-01

    Fifteen combinations with six soybean cultivars of different isoflavone content were formulated and planted in a randomized complete-block design model; genetic factors of isoflavone quantity were analyzed. Resuits indicated that genetic factors of isoflavone contents in F2 population inherited quantitatively. Isoflavone content of F1, F2 seeds normally trended. There were heterosis in F1, F2 of most combinations, and also heterobeltiosis in part of the crosses. The broad sense heritability of F2 was higher in parts of the crosses. It predicted the selection might be carried out preliminarily in F2 hybrids. There was significant positive correlation between hybrids and mid-parent.

  19. [Molecular genetic bases of adaptation processes and approaches to their analysis].

    Science.gov (United States)

    Salmenkova, E A

    2013-01-01

    Great interest in studying the molecular genetic bases of the adaptation processes is explained by their importance in understanding evolutionary changes, in the development ofintraspecific and interspecific genetic diversity, and in the creation of approaches and programs for maintaining and restoring the population. The article examines the sources and conditions for generating adaptive genetic variability and contribution of neutral and adaptive genetic variability to the population structure of the species; methods for identifying the adaptive genetic variability on the genome level are also described. Considerable attention is paid to the potential of new technologies of genome analysis, including next-generation sequencing and some accompanying methods. In conclusion, the important role of the joint use of genomics and proteomics approaches in understanding the molecular genetic bases of adaptation is emphasized.

  20. Preliminary risk analysis applied to the handling of health-care waste

    Directory of Open Access Journals (Sweden)

    Carvalho S.M.L.

    2002-01-01

    Full Text Available Between 75% and 90% of the waste produced by health-care providers no risk or is "general" health-care waste, comparable to domestic waste. The remaining 10-25% of health-care waste is regarded as hazardous due to one or more of the following characteristics: it may contain infectious agents, sharps, toxic or hazardous chemicals or it may be radioactive. Infectious health-care waste, particularly sharps, has been responsible for most of the accidents reported in the literature. In this work the preliminary risks analysis (PRA technique was used to evaluate practices in the handling of infectious health-care waste. Currently the PRA technique is being used to identify and to evaluate the potential for hazard of the activities, products, and services from facilities and industries. The system studied was a health-care establishment which has handling practices for infectious waste. Thirty-six procedures related to segregation, containment, internal collection, and storage operation were analyzed. The severity of the consequences of the failure (risk that can occur from careless management of infectious health-care waste was classified into four categories: negligible, marginal, critical, and catastrophic. The results obtained in this study showed that events with critics consequences, about 80%, may occur during the implementation of the containment operation, suggesting the need to prioritize this operation. As a result of the methodology applied in this work, a flowchart the risk series was also obtained. In the flowchart the events that can occur as a consequence of a improper handling of infectious health-care waste, which can cause critical risks such as injuries from sharps and contamination (infection from pathogenic microorganisms, are shown.

  1. Stochastic index model for intermittent regimes: from preliminary analysis to regionalisation

    Directory of Open Access Journals (Sweden)

    M. Rianna

    2011-04-01

    Full Text Available In small and medium-sized basins or in rivers characterized by intermittent discharges, with low or negligible/null observed values for long periods of the year, the correct representation of the discharge regime is important for issues related to water management and to define the amount and quality of water available for irrigation, domestic and recreational uses. In these cases, only one index as a statistical metric is often not enough; it is thus necessary to introduce Flow Duration Curves (FDC.

    The aim of this study is therefore to combine a stochastic index flow model capable of reproducing the FDC record period of a river, regardless of the persistence and seasonality of the series, with the theory of total probability in order to calculate how often a river is dry.

    The paper draws from preliminary analyses, including a study to estimate the correlation between discharge indicators Q95, Q50 and Q1 (discharges exceeding 95%, 50% or 1% of the time, respectively and some fundamental characteristics of the basin, as well as to identify homogeneous regions in the target area through the study of several geo-morphological features and climatic conditions. The stochastic model was then applied in one of the homogeneous regions that includes intermittent rivers.

    Finally, the model was regionalized by means of regression analysis in order to calculate the FDC for ungauged basins; the reliability of this method was tested using jack-knife validation.

  2. Identification of succinic semialdehyde reductases from Geobacter: expression,purification, crystallization, preliminary functional, and crystallographic analysis

    Institute of Scientific and Technical Information of China (English)

    Yanfeng Zhang; Xiaoli Gao; Yi Zheng; R. Michae; Garavito

    2011-01-01

    Succinic semialdehyde reductase (SSAR) is an important enzyme involved in γ-aminobutyrate (GABA) metabolism.By converting succinic semialdehyde (SSA) to γ-hydroxybutyrate (GHB),the SSAR facilitates an alternative pathway for GABA degradation.In this study,we identified SSARs from Geobacter sulfurreducens and Geobacter metallireducens (GsSSAR and GmSSAR,respectively).The enzymes were over-expressed in Escherichia coil and purified to near homogeneity.Both GsSSAR and GmSSAR showed the activity of reducing SSA using nicotinamide adenine dinucleotide phosphate as a co-factor.The oligomeric sizes of GsSSAR and GmSSAR,as determined by analytical size exclusion chromatography,suggest that the enzymes presumably exist as tetramers in solution.The recombinant GsSSAR and GmSSAR crystallized in the presence of NADP+,and the resulting crystals diffracted to 1.89 (A) (GsSSAR) and 2.25 (A)(GmSSAR) resolution.The GsSSAR and GmSSAR crystals belong to the space groups P21221 (a =99.61 (A),b =147.49 (A),c =182.47 A) and P1 (a =75.97 (A) b =79.14 (A) c =95.47 (A),α =82.15°,β =88.80°,γ=87.66°),respectively.Preliminary crystallographic data analysis suggests the presence of eight protein monomers in the asymmetric units for both GsSSAR and GmSSAR.

  3. Identification of succinic semialdehyde reductases from Geobacter: expression, purification, crystallization, preliminary functional, and crystallographic analysis

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Yanfeng; Gao, Xiaoli; Zheng, Yi; Garavito, R. Michael (MSU)

    2012-04-30

    Succinic semialdehyde reductase (SSAR) is an important enzyme involved in {gamma}-aminobutyrate (GABA) metabolism. By converting succinic semialdehyde (SSA) to {gamma}-hydroxybutyrate (GHB), the SSAR facilitates an alternative pathway for GABA degradation. In this study, we identified SSARs from Geobacter sulfurreducens and Geobacter metallireducens (GsSSAR and GmSSAR, respectively). The enzymes were over-expressed in Escherichia coli and purified to near homogeneity. Both GsSSAR and GmSSAR showed the activity of reducing SSA using nicotinamide adenine dinucleotide phosphate as a co-factor. The oligomeric sizes of GsSSAR and GmSSAR, as determined by analytical size exclusion chromatography, suggest that the enzymes presumably exist as tetramers in solution. The recombinant GsSSAR and GmSSAR crystallized in the presence of NADP{sup +}, and the resulting crystals diffracted to 1.89 {angstrom} (GsSSAR) and 2.25 {angstrom} (GmSSAR) resolution. The GsSSAR and GmSSAR crystals belong to the space groups P2{sub 1}22{sub 1} (a = 99.61 {angstrom}, b = 147.49 {angstrom}, c = 182.47 {angstrom}) and P1 (a = 75.97 {angstrom}, b = 79.14 {angstrom}, c = 95.47 {angstrom}, {alpha} = 82.15{sup o}, {beta} = 88.80{sup o}, {gamma} = 87.66{sup o}), respectively. Preliminary crystallographic data analysis suggests the presence of eight protein monomers in the asymmetric units for both GsSSAR and GmSSAR.

  4. Preliminary Analysis of the Transient Reactor Test Facility (TREAT) with PROTEUS

    Energy Technology Data Exchange (ETDEWEB)

    Connaway, H. M. [Argonne National Lab. (ANL), Argonne, IL (United States); Lee, C. H. [Argonne National Lab. (ANL), Argonne, IL (United States)

    2015-11-30

    The neutron transport code PROTEUS has been used to perform preliminary simulations of the Transient Reactor Test Facility (TREAT). TREAT is an experimental reactor designed for the testing of nuclear fuels and other materials under transient conditions. It operated from 1959 to 1994, when it was placed on non-operational standby. The restart of TREAT to support the U.S. Department of Energy’s resumption of transient testing is currently underway. Both single assembly and assembly-homogenized full core models have been evaluated. Simulations were performed using a historic set of WIMS-ANL-generated cross-sections as well as a new set of Serpent-generated cross-sections. To support this work, further analyses were also performed using additional codes in order to investigate particular aspects of TREAT modeling. DIF3D and the Monte-Carlo codes MCNP and Serpent were utilized in these studies. MCNP and Serpent were used to evaluate the effect of geometry homogenization on the simulation results and to support code-to-code comparisons. New meshes for the PROTEUS simulations were created using the CUBIT toolkit, with additional meshes generated via conversion of selected DIF3D models to support code-to-code verifications. All current analyses have focused on code-to-code verifications, with additional verification and validation studies planned. The analysis of TREAT with PROTEUS-SN is an ongoing project. This report documents the studies that have been performed thus far, and highlights key challenges to address in future work.

  5. Purification, crystallization and preliminary structural analysis of nucleoside diphosphate kinase from Bacillus anthracis

    Energy Technology Data Exchange (ETDEWEB)

    Misra, Gauri [Molecular and Structural Biology Division, Central Drug Research Institute, PO Box 173, Chattar Manzil, Mahatma Gandhi Marg, Lucknow 226 001 (India); Aggarwal, Anita [Institute of Genomics and Integrative Biology, Mall Road, Delhi 110 007 (India); Mittal, Sonia [Molecular and Structural Biology Division, Central Drug Research Institute, PO Box 173, Chattar Manzil, Mahatma Gandhi Marg, Lucknow 226 001 (India); Singh, Yogendra [Institute of Genomics and Integrative Biology, Mall Road, Delhi 110 007 (India); Ramachandran, Ravishankar, E-mail: r-ravishankar@cdri.res.in [Molecular and Structural Biology Division, Central Drug Research Institute, PO Box 173, Chattar Manzil, Mahatma Gandhi Marg, Lucknow 226 001 (India)

    2007-12-01

    Nucleoside diphosphate kinase from B. anthracis has been crystallized. Preliminary crystallographic analysis shows that there is one monomer in the asymmetric unit of the crystal. Bacillus anthracis nucleoside diphosphate kinase (BaNdk) is an enzyme whose primary function is to maintain deoxynucleotide triphosphate (dNTP) pools by converting deoxynucleotide diphosphates to triphosphates using ATP as the major phosphate donor. Although the structures of Ndks from a variety of organisms have been elucidated, the enzyme from sporulating bacteria has not been structurally characterized to date. Crystals of the B. anthracis enzyme were grown using the vapour-diffusion method from a hanging drop consisting of 2 µl 10 mg ml{sup −1} protein in 50 mM Tris–HCl pH 8.0, 50 mM NaCl, 5 mM EDTA equilibrated against 500 µl reservoir solution consisting of 2.25 M ammonium formate and 0.1 M HEPES buffer pH 7.25. Diffraction data extending to 2.0 Å were collected at room temperature from a single crystal with unit-cell parameters a = b = 107.53, c = 52.3 Å. The crystals are hexagonal in shape and belong to space group P6{sub 3}22. The crystals contain a monomer in the asymmetric unit, which corresponds to a Matthews coefficient (V{sub M}) of 2.1 Å{sup 3} Da{sup −1} and a solvent content of about 36.9%.

  6. Genetic Analysis of Pinus sylvestris L. and Pinus sylvestris forma turfosa L. Using RAPD Markers

    Directory of Open Access Journals (Sweden)

    Beáta ÁBRAHÁM

    2010-03-01

    Full Text Available The purpose of the present study was to determine the level of genetic diversity within and among Ciuc basin, Romania (populations from Mohos and Luci raised bogs in Harghita Mountain and Sumuleu in Ciuc Mountain Pinus sylvestris populations using molecular markers. Two of populations (Mohos and Luci seems to be the descendants that survived the continental glaciation. Genetic diversity was analyzed by RAPD (Random Amplified Polymorphic DNA. Nine primers were selected for analysis, which generated reproducible bands. On base of presence or absence of homologues bands Nei’s gene diversity, the percentage of polymorphic loci and Nei’s unbiased genetic distance were calculated. The level of genetic variation among populations was found to be low. For both populations the variation values among populations were higher than within populations. The fossil records and geological historical data explain the extremely low genetic diversity of this species. Pinus sylvestris experienced strong bottlenecks during its evolutionary history, which caused the loss of genetic variation. Genetic drift and breeding in post-bottlenecked small populations may be the major forces that contribute to low genetic diversity and genetic differentiation of populations. Human activities may have accelerated the loss of genetic diversity in Pinus sylvestris.

  7. Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies

    Science.gov (United States)

    Bezdjian, Serena; Baker, Laura A.; Tuvblad, Catherine

    2011-01-01

    A meta-analysis of twin, family and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on impulsivity. The best fitting model for 41 key studies (58 independent samples from 14 month old infants to adults; N = 27,147) included equal proportions of variance due to genetic (0.50) and non-shared environmental (0.50) influences, with genetic effects being both additive (0.38) and non-additive (0.12). Shared environmental effects were unimportant in explaining individual differences in impulsivity. Age, sex, and study design (twin vs. adoption) were all significant moderators of the magnitude of genetic and environmental influences on impulsivity. The relative contribution of genetic effects (broad sense heritability) and unique environmental effects were also found to be important throughout development from childhood to adulthood. Total genetic effects were found to be important for all ages, but appeared to be strongest in children. Analyses also demonstrated that genetic effects appeared to be stronger in males than in females. Method of assessment (laboratory tasks vs. questionnaires), however, was not a significant moderator of the genetic and environmental influences on impulsivity. These results provide a structured synthesis of existing behavior genetic studies on impulsivity by providing a clearer understanding of the relative genetic and environmental contributions in impulsive traits through various stages of development. PMID:21889436

  8. A preliminary investigation on genetic diversity of Sousa chinensis in the Pearl River Estuary and Xiamen of Chinese waters

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    In this study, the mitochondrial DNA (mtDNA) control region and the mitochondrial cytochrome b gene of stranded Indo-Pacific humpback dolphin (Sousa chinensis) samples from the Pearl River Estuary and Xiamen waters were sequenced and analyzed. The result of mtDNA control region revealed 34 variable sites and four unique haplotypes (named as A, B, C and D) identified among the total samples from these two water areas, and the most common haplotype (A) was shared by 75% of the dolphins sampled from the two water areas. The haplotypic diversity (h) was 0.455 and the nucleotide diversity (π) was 0.0088. The phylogenetic analysis showed that the haplotype A, C, and D were closely related, but the haplotype B (unique for XM01 from Xiamen) was far from the other three. By scanning cytochrome b fragments, two haplotypes (A and B) were identified in these two water areas, and the most common haplotype (A) was shared by 91.67% individuals, while XM01 from Xiamen as the only exception. The date suggest that there is a possibility of gene exchange between the two populations in the Pearl River Estuary and Xiamen waters, and there possibly exists a unique maternal lineage in Xiamen waters.

  9. Preliminary Evaluation of MapReduce for High-Performance Climate Data Analysis

    Science.gov (United States)

    Duffy, D. Q.; Schnase, J. L.; Clune, T. L.; Kim, E. J.; Freeman, S. M.; Thompson, J. H.; Hunter, K. A.; Theriot, M. E.

    2011-12-01

    Data intensive analytic workflows bridge between the largely unstructured mass of stored scientific data and the highly structured, tailored, reduced, and refined products used by scientists in their research. In general, the initial steps of an analysis, those operations that first interact with a data repository, tend to be the most general, while data manipulations closer to the client tend to be the most specialized to the individual, to the domain, or to the science question under study. The amount of data being operated on also tends to be larger on the repository-side of the workflow, smaller toward the client-side end products. We are using MapReduce to exploit this natural stratification, optimize efficiencies along the workflow chain, and provide a preliminary qualitative and quantitative assessment of MapReduce as a means of enabling server-side, distributed climate data analysis. MapReduce is a model for distributed storage and computation that seeks to improve efficiencies of the near-archive operations that initiate workflows. Simply put, MapReduce stores chunked data on disks with associated processors in such a way that operations on the chunked data can occur in parallel and return meaningfully aggregated results. While MapReduce has proven effective for large repositories of textual data, its use in data intensive science applications has been limited, because many scientific data sets are inherently complex, have high dimensionality, and use binary formats. We are using Apache's open-source Hadoop software implementation of MapReduce on top of the Hadoop Filesystem in our evaluation. Our analyses focus on soil moisture, precipitation, and atmospheric water-vapor, important classes of observation- and simulation-derived data products. The specific data sets being used in the evaluation include MERRA monthly precipitation and soil moisture products; the MODIS Atmospheres, 8-day global water-vapor product; and the SMOS 3-day global soil moisture

  10. Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study

    Directory of Open Access Journals (Sweden)

    Jimenez-Sousa Ma

    2012-07-01

    Full Text Available Abstract Background Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD, which constitutes a serious public health problem. Objective To investigate whether single nucleotide polymorphisms (SNPs located in genes related to immune and inflammatory processes, could be associated with ESRD development. Design and methods A retrospective case-control study was carried out on 276 patients with ESRD and 288 control subjects. Forty-eight SNPs were genotyped via SNPlex platform. Logistic regression was used to assess the relationship between each sigle polymorphism and the development of ESRD. Results Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R gene (OR: 0.66 (95%CI = 0.46-0.95; p = 0.025; overdominant model, rs4586 in chemokine (C-C motif ligand 2 (CCL2 gene (OR: 0.70 (95%CI = 0.54-0.90; p = 0.005; additive model, rs301640 located in an intergenic binding site for signal transducer and activator of transcription 4 (STAT4 (OR: 1.82 (95%CI = 1.17-2.83; p = 0.006; additive model and rs7830 in the nitric oxide synthase 3 (NOS3 gene (OR: 1.31 (95%CI = 1.01-1.71; p = 0.043; additive model. After adjusting for multiple testing, results lost significance. Conclusion Our preliminary data suggest that four genetic polymorphisms located in genes related to inflammation and immune processes could help to predict the risk of developing ESRD.

  11. Non-genetic direct reprogramming and biomimetic platforms in a preliminary study for adipose-derived stem cells into corneal endothelia-like cells.

    Directory of Open Access Journals (Sweden)

    Ying Dai

    Full Text Available Cell fate and function can be regulated and reprogrammed by intrinsic genetic program, extrinsic factors and niche microenvironment. Direct reprogramming has shown many advantages in the field of cellular reprogramming. Here we tried the possibility to generate corneal endothelia (CE -like cells from human adipose-derived stem cells (ADSCs by the non-genetic direct reprogramming of recombinant cell-penetrating proteins Oct4/Klf4/Sox2 (PTD-OKS and small molecules (purmorphamine, RG108 and other reprogramming chemical reagents, as well as biomimetic platforms of simulate microgravity (SMG bioreactor. Co-cultured with corneal cells and decellularized corneal ECM, Reprogrammed ADSCs revealed spherical growth and positively expressing Nanog for RT-PCR analysis and CD34 for immunofluorescence staining after 7 days-treatment of both purmorphamine and PTD-OKS (P-OKS and in SMG culture. ADSCs changed to CEC polygonal morphology from spindle shape after the sequential non-genetic direct reprogramming and biomimetic platforms. At the same time, induced cells converted to weakly express CD31, AQP-1 and ZO-1. These findings demonstrated that the treatments were able to promote the stem-cell reprogramming for human ADSCs. Our study also indicates for the first time that SMG rotary cell culture system can be used as a non-genetic means to promote direct reprogramming. Our methods of reprogramming provide an alternative strategy for engineering patient-specific multipotent cells for cellular plasticity research and future autologous CEC replacement therapy that avoids complications associated with the use of human pluripotent stem cells.

  12. SINGLE-SHELL TANK INTEGRITY PROJECT ANALYSIS OF RECORD-PRELIMINARY MODELING PLAN FOR THERMAL AND OPERATING LOADS

    Energy Technology Data Exchange (ETDEWEB)

    RAST RS; RINKER MW; BAPANAALLI SK; DEIBLER JE; GUZMAN-LEONG CE; JOHNSON KI; KARRI NK; PILLI SP; SANBORN SE

    2010-10-22

    This document is a Phase I deliverable for the Single-Shell Tank Analysis of Record effort. This document is not the Analysis of Record. The intent of this document is to guide the Phase II detailed modeling effort. Preliminary finite element models for each of the tank types were developed and different case studies were performed on one or more of these tank types. Case studies evaluated include thermal loading, waste level variation, the sensitivity of boundary effects (soil radial extent), excavation slope or run to rise ratio, soil stratigraphic (property and layer thickness) variation at different farm locations, and concrete material property variation and their degradation under thermal loads. The preliminary analysis document reviews and preliminary modeling analysis results are reported herein. In addition, this report provides recommendations for the next phase of the SST AOR project, SST detailed modeling. Efforts and results discussed in this report do not include seismic modeling as seismic modeling is covered by a separate report. The combined results of both static and seismic models are required to complete this effort. The SST AOR project supports the US Department of Energy's (DOE) Office of River Protection (ORP) mission for obtaining a better understanding of the structural integrity of Hanford's SSTs. The 149 SSTs, with six different geometries, have experienced a range of operating histories which would require a large number of unique analyses to fully characterize their individual structural integrity. Preliminary modeling evaluations were conducted to determine the number of analyses required for adequate bounding of each of the SST tank types in the Detailed Modeling Phase of the SST AOR Project. The preliminary modeling was conducted in conjunction with the Evaluation Criteria report, Johnson et al. (2010). Reviews of existing documents were conducted at the initial stage of preliminary modeling. These reviews guided the topics

  13. First phylogenetic analysis of Ehrlichia canis in dogs and ticks from Mexico. Preliminary study

    Directory of Open Access Journals (Sweden)

    Carolina G. Sosa-Gutiérrez

    2016-09-01

    Full Text Available Objective. Phylogenetic characterization of Ehrlichia canis in dogs naturally infected and ticks, diagnosed by PCR and sequencing of 16SrRNA gene; compare different isolates found in American countries. Materials and methods. Were collected Blood samples from 139 dogs with suggestive clinical manifestations of this disease and they were infested with ticks; part of 16SrRNA gene was sequenced and aligned, with 17 sequences reported in American countries. Two phylogenetic trees were constructed using the Maximum likelihood method, and Maximum parsimony. Results. They were positive to E. canis 25/139 (18.0% dogs and 29/139 (20.9% ticks. The clinical manifestations presented were fever, fatigue, depression and vomiting. Rhipicephalus sanguineus Dermacentor variabilis and Haemaphysalis leporis-palustris ticks were positive for E. canis. Phylogenetic analysis showed that the sequences of dogs and ticks in Mexico form a third group diverging of sequences from South America and USA. Conclusions. This is the first phylogenetic analysis of E. canis in Mexico. There are differences in the sequences of Mexico with those reported in South America and USA. This research lays the foundation for further study of genetic variability.

  14. How do Organizational Learning and Market Conditions Affect the Relationship between Entrepreneurial Orientation and Firm Growth? A Preliminary Analysis on Small and Medium Size Hotels in Peninsular Malaysia

    National Research Council Canada - National Science Library

    Azilah Kasim; Levent Altinay

    2016-01-01

      This is a preliminary analysis on the influence of organizational learning and market conditions on the relationships between entrepreneurial orientation and growth of small and medium size hotels...

  15. Genetic analysis reveals diversity and genetic relationship among Trichoderma isolates from potting media, cultivated soil and uncultivated soil.

    Science.gov (United States)

    Al-Sadi, Abdullah M; Al-Oweisi, Fatma A; Edwards, Simon G; Al-Nadabi, Hamed; Al-Fahdi, Ahmed M

    2015-07-28

    Trichoderma is one of the most common fungi in soil. However, little information is available concerning the diversity of Trichoderma in soil with no previous history of cultivation. This study was conducted to investigate the most common species and the level of genetic relatedness of Trichoderma species from uncultivated soil in relation to cultivated soil and potting media. A total of 24, 15 and 13 Trichoderma isolates were recovered from 84 potting media samples, 45 cultivated soil samples and 65 uncultivated soil samples, respectively. Analysis based on the internal transcribed spacer region of the ribosomal RNA (rRNA) and the translation elongation factor gene (EF1) indicated the presence of 9 Trichoderma species: T. harzianum (16 isolates), T. asperellum (13), T. citrinoviride (9), T. orientalis (3), T. ghanense (3), T. hamatum (3), T. longibrachiatum (2), T. atroviride (2), and T. viride (1). All species were found to occur in potting media samples, while five Trichoderma species were recovered from the cultivated soils and four from the uncultivated soils. AFLP analysis of the 52 Trichoderma isolates produced 52 genotypes and 993 polymorphic loci. Low to moderate levels of genetic diversity were found within populations of Trichoderma species (H = 0.0780 to 0.2208). Analysis of Molecular Variance indicated the presence of very low levels of genetic differentiation (Fst = 0.0002 to 0.0139) among populations of the same Trichoderma species obtained from the potting media, cultivated soil and uncultivated soil. The study provides evidence for occurrence of Trichoderma isolates in soil with no previous history of cultivation. The lack of genetic differentiation among Trichoderma populations from potting media, cultivated soil and uncultivated soil suggests that some factors could have been responsible for moving Trichoderma propagules among the three substrates. The study reports for the first time the presence of 4 Trichoderma species in Oman: T

  16. Analysis of genetic relationships of pearl millet (Pennisetum glaucum L.) landraces from Zimbabwe, using microsatellites

    CSIR Research Space (South Africa)

    Chakauya, E

    2008-01-01

    Full Text Available and indigenous farmer given names. Analysis was done by PAGE stained with ethidium bromide. Simple matching coefficients were compared and the genetic relationships between genotypes were clarified on dendrograms by unweighted pair-group averages (UPGMA). Two...

  17. Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables

    DEFF Research Database (Denmark)

    2010-01-01

    Genetic markers can be used as instrumental variables, in an analogous way to randomization in a clinical trial, to estimate the causal relationship between a phenotype and an outcome variable. Our purpose is to extend the existing methods for such Mendelian randomization studies to the context...... of multiple genetic markers measured in multiple studies, based on the analysis of individual participant data. First, for a single genetic marker in one study, we show that the usual ratio of coefficients approach can be reformulated as a regression with heterogeneous error in the explanatory variable....... This can be implemented using a Bayesian approach, which is next extended to include multiple genetic markers. We then propose a hierarchical model for undertaking a meta-analysis of multiple studies, in which it is not necessary that the same genetic markers are measured in each study. This provides...

  18. Genetic analysis of protein composition of bovine milk

    NARCIS (Netherlands)

    Schopen, G.C.B.

    2010-01-01

    This thesis is part of the Dutch Milk Genomics Initiative, and the general aim was to obtain more insight into the genetic background of bovine milk protein composition. Morning milk samples from roughly 2000 cows were analyzed for the six major milk proteins (αS1-casein, αS2-casein, β-casein,

  19. Genetic analysis of calf and heifer losses in Danish Holstein

    DEFF Research Database (Denmark)

    Fuerst-Walti, B; Sørensen, Morten Kargo

    2010-01-01

    of genetic parameters, linear and threshold sire models were applied. Effects accounted for were the random effects herd × year × season and sire as well as the fixed effects year × month, number of dam's parity (parities >5 were set to 5), calf size, and calving ease. In total, the pedigree consisted of 4...

  20. Genetic analysis of body weight of Takifugu rubripes at different ...

    African Journals Online (AJOL)

    Tuoyo Aghomotsegin

    2016-11-09

    Nov 9, 2016 ... 2Laboratory for Marine Biology and Biotechnology, Qingdao ... weight trait was mainly controlled by dominance effects from 8 to 17 months ... Key words: Takifugu rubripes, body weight, genetic parameters, .... The quantity of fish and the environment were standardized to ..... models of evolutionary change.

  1. Analysis of genetic structure in Melia volkensii (Gurke.) populations ...

    African Journals Online (AJOL)

    Administrator

    between populations in the eastern and the coastal regions with 21.1%, (P < 0.0002) of the total variation attributed to differences ... especially in the highly settled areas. ... to rapidly estimate the patterns and distribution of genetic variation for ... Altitude (m) Region .... application to human mitochondrial DNA restriction data.

  2. Genetic diversity analysis and conservation of the Chinese herb ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-10-05

    Oct 5, 2009 ... were to (i) examine levels and distribution of genetic vari- ability within and .... TSL-4X only, which is located in the south part of the. Qinling region of .... tation of facilities, it was impossible to conserve all acces- sions in in situ ...

  3. (Cyto)genetic analysis of (oligodendro)glial tumors

    NARCIS (Netherlands)

    Jeuken, Judith Willem Marie

    2002-01-01

    The goal of the studies described in this thesis was to identify genetic markers with prognostic or therapeutic implications for the less common glial tumors, the oligodendroglial tumors (OTs), including both pure oligodendrogliomas (Os) and mixed oligo-astrocytomas (OAs), and the ependymal tumors (

  4. Genetic and biochemical analysis of solvent formation in Clostridium acetobutylicum

    Energy Technology Data Exchange (ETDEWEB)

    Bennett, G.N.; Rudolph, F.B.

    1998-05-01

    The anaerobic organism Clostridium acetobutylicum has been used for commercial production of important organic solvents due to its ability to convert a wide variety of crude substrates to acids and alcohols. Current knowledge concerning the molecular genetics, cell regulation and metabolic engineering of this organism is still rather limited. The objectives are to improve the knowledge of the molecular genetics and enzymology of Clostridia in order to make genetic alterations which will more effectively channel cell metabolism toward production of desired products. Two factors that limit butanol production in continuous cultures are: (1) The degeneration of the culture, with an increase in the proportion of cells which are incapable of solvent production. Currently isolated degenerate strains are being evaluated to analyze the molecular mechanism of degeneration to determine if it is due to a genetic loss of solvent related genes, loss of a regulatory element, or an increase in general mutagenesis. Recent studies show two general types of degenerates, one which seems to have lost essential solvent pathway genes and another which has not completely lost all solvent production capability and retains the DNA bearing solvent pathway genes. (2) The production of hydrogen which uses up reducing equivalents in the cell. If the reducing power were more fully directed to the reduction reactions involved in butanol production, the process would be more efficient. The authors have studied oxidation reduction systems related to this process. These studies focus on ferredoxin and rubredoxin and their oxidoreductases.

  5. Standardization of RAPD assay for genetic analysis of olive

    African Journals Online (AJOL)

    PRECIOUS

    2009-12-15

    Dec 15, 2009 ... for thousands of years and it meets not only the edible .... ethanol. DNA's were dried and re-suspended in 50 µl EDTA. RNA ase (1 µl) was added against the possibility of contamination, in the .... Olive genetic diversity.

  6. Simulation Approach for Timing Analysis of Genetic Logic Circuits

    DEFF Research Database (Denmark)

    Baig, Hasan; Madsen, Jan

    2017-01-01

    in a manner similar to electronic logic circuits, but they are much more stochastic and hence much harder to characterize. In this article, we introduce an approach to analyze the threshold value and timing of genetic logic circuits. We show how this approach can be used to analyze the timing behavior...

  7. SNP and haplotype mapping for genetic analysis in the rat.

    NARCIS (Netherlands)

    Saar, K.; Beck, A.; Bihoreau, M.; Birney, E.; Brocklebank, D.; Chen, Y.; Cuppen, E.; Demonchy, S.; Dopazo, J.; Flicek, P.; Foglio, M.; Fujiyama, A.; Gut, I.G.; Gauguier, D.; Guigo, R.; Guryev, V.; Heinig, M.; Hummel, O.; Jahn, N.; Klages, S.; Kren, V.; Kube, M.; Kuhl, H.; Kuramoto, T.; Kuroki, Y.; Lechner, D.; Lee, Y.A.; Lopez-Bigas, N.; Lathrop, G.M.; Mashimo, T.; Medina, I.; Mott, R.; Patone, G.; Perrier-Cornet, J.A.; Platzer, M.; Pravenec, M.; Reinhardt, R.; Sakaki, Y.; Schilhabel, M.; Schulz, H.; Serikawa, T.; Shikhagaie, M.; Tatsumoto, S.; Taudien, S.; Toyoda, A.; Voigt, B.; Zelenika, D.; Zimdahl, H.; Hubner, N.

    2008-01-01

    The laboratory rat is one of the most extensively studied model organisms. Inbred laboratory rat strains originated from limited Rattus norvegicus founder populations, and the inherited genetic variation provides an excellent resource for the correlation of genotype to phenotype. Here, we report a s

  8. Finite-time performance analysis for genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    Finite-time performance of genetic algorithm with elitist operator in finite solution space is studied, and the relationship between evolution generation and the quality of the solution found best so far is analyzed. The estimating formulations of the expectation value as well as upper bound and lower bound for the evolution generation earliest achieving specific performance are provided.

  9. Seasonal Time Series Analysis Based on Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Pattern discovery from the seasonal time-series is of importance. Traditionally, most of the algorithms of pattern discovery in time series are similar. A novel mode of time series is proposed which integrates the Genetic Algorithm (GA) for the actual problem. The experiments on the electric power yield sequence models show that this algorithm is practicable and effective.

  10. SNP and haplotype mapping for genetic analysis in the rat

    NARCIS (Netherlands)

    Saar, Kathrin; Beck, Alfred; Bihoreau, Marie-Thérèse; Birney, Ewan; Brocklebank, Denise; Chen, Yuan; Cuppen, Edwin; Demonchy, Stephanie; Dopazo, Joaquin; Flicek, Paul; Foglio, Mario; Fujiyama, Asao; Gut, Ivo G; Gauguier, Dominique; Guigo, Roderic; Guryev, Victor; Heinig, Matthias; Hummel, Oliver; Jahn, Niels; Klages, Sven; Kren, Vladimir; Kube, Michael; Kuhl, Heiner; Kuramoto, Takashi; Kuroki, Yoko; Lechner, Doris; Lee, Young-Ae; Lopez-Bigas, Nuria; Lathrop, G Mark; Mashimo, Tomoji; Medina, Ignacio; Mott, Richard; Patone, Giannino; Perrier-Cornet, Jeanne-Antide; Platzer, Matthias; Pravenec, Michal; Reinhardt, Richard; Sakaki, Yoshiyuki; Schilhabel, Markus; Schulz, Herbert; Serikawa, Tadao; Shikhagaie, Medya; Tatsumoto, Shouji; Taudien, Stefan; Toyoda, Atsushi; Voigt, Birger; Zelenika, Diana; Zimdahl, Heike; Hubner, Norbert

    2008-01-01

    The laboratory rat is one of the most extensively studied model organisms. Inbred laboratory rat strains originated from limited Rattus norvegicus founder populations, and the inherited genetic variation provides an excellent resource for the correlation of genotype to phenotype. Here, we report a s

  11. Potato leafroll virus : molecular analysis and genetically engineered resistance

    NARCIS (Netherlands)

    Wilk, van der F.

    1995-01-01

    The nucleotide sequence of the genomic RNA of potato leafroll virus (PLRV) was elucidated and its genetic organization deduced (Chapter 2). Six open reading frames (ORFs) were shown to be present on the genome. Both the PLRV coat protein gene and the RNA- dependent RNA polymerase gene were

  12. Genetic analysis of protein composition of bovine milk

    NARCIS (Netherlands)

    Schopen, G.C.B.

    2010-01-01

    This thesis is part of the Dutch Milk Genomics Initiative, and the general aim was to obtain more insight into the genetic background of bovine milk protein composition. Morning milk samples from roughly 2000 cows were analyzed for the six major milk proteins (αS1-casein, αS2-casein, β-casein, κ-cas

  13. Genetic analysis of Trichinella populations by 'cold' single-strand conformation polymorphism analysis.

    Science.gov (United States)

    Gasser, Robin B; Hu, Min; El-Osta, Youssef Abs; Zarlenga, Dante S; Pozio, Edoardo

    2005-09-05

    A non-isotopic single-strand conformation polymorphism ('cold' SSCP) technique has been assessed for the analysis of sequence variability in the expansion segment 5 (ES5) of domain IV and the D3 domain of nuclear ribosomal DNA within and/or among isolates and individual muscle (first-stage) larvae representing all currently recognized species/genotypes of Trichinella. Data are consistent with the ability of cold SSCP to identify intra-specific as well as inter-specific variability among Trichinella genotypes. The cold SSCP approach should be applicable to a range of other genetic markers for comparative studies of Trichinella populations globally.

  14. Analysis of rainfall-induced shallow landslides in Jamne and Jaszcze stream valleys (Polish Carpathians – preliminary results

    Directory of Open Access Journals (Sweden)

    Zydroń Tymoteusz

    2016-03-01

    Full Text Available Analysis of rainfall-induced shallow landslides in Jamne and Jaszcze stream valleys (Polish Carpathians - preliminary results. Preliminary shallow landslide susceptibility mapping of the Jamne and Jaszcze stream valleys, located in the Polish Flysch Carpathians, is presented in the paper. For the purpose of mapping, there were used SINMAP and Iverson’s models integrating infiltration and slope stability calculations. The calibration of the used models parameters, obtained from limited field and laboratory tests, was performed using data from 8-9 July 1997, when as a consequence of a very intense rainfall, 94 shallow landslides were observed on meadows and arable lands. A comparison of the slope stability calculation results and the localisation of the noticed shallow landslides showed satisfactory agreement between localisation of the observed and computed unstable areas. However, it was concluded that better simulation results were obtained using Iverson’s model.

  15. Methods of Sports Genetics: dermatoglyphic analysis of human fingerprints (information 1

    Directory of Open Access Journals (Sweden)

    Serhiyenko L.P.

    2010-02-01

    Full Text Available The article provides data on the dermatoglyphic analysis of human fingerprints. The most informative dermatoglyphic traits of fingerprints are defined. They can be used as genetic markers to prognosticate sports endowments. The recommendations to use the technology of dermatoglyphic analysis of human fingerprints in sports genetics are given. There are certain national and racial differences in phenotypical expressed of dermatoglyphics of digit patterns.

  16. Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling.

    Science.gov (United States)

    Hayden, Sommer; Mange, Sarah; Duquette, Debra; Petrucelli, Nancie; Raymond, Victoria M

    2017-01-16

    Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

  17. Analysis of the operation of a diffraction-radiation generator with preliminary HF modulation

    Science.gov (United States)

    Pivovarova, A. G.

    1991-05-01

    The excitation conditions and output characteristics of a diffraction-radiation generator with preliminary HF modulation are determined. Attention is given to the effects of the modulation parameter, the phase shift, and the aiming distance on the displacement of the generation zone, variations of the minimum starting current, the frequency shift, the oscillation amplitude, and the efficiency of the generator. It is shown that the efficiency of a generator with preliminary HF modulation can be twice as high as that of a generator without modulation.

  18. Preliminary analysis of mortality associated with rituximab use in autoimmune diseases.

    Science.gov (United States)

    Shetty, Shawn; Ahmed, A R

    2013-12-01

    Normal antibodies and pathogenic autoantibodies are produced by B-cells and plasma cells. Rituximab is a chimeric monoclonal antibody that targets the CD20 molecule on cells that express them on their surface and kills them. Rituximab has been increasingly used to treat several autoimmune diseases. Studies on fatal outcomes associated with rituximab therapy are lacking. A comprehensive and detailed analysis in which the multiple factors that could contribute to a fatal outcome in all the autoimmune diseases in which rituximab has been used would be cumbersome, lack uniformity and would prove difficult in making certain definitive conclusions and comparisons, but more importantly it would not allow to provide specific precautions and recommendations to prevent mortality. Hence, autoimmune mucocutaneous blistering diseases (AMBD) were used as model to study fatal outcomes in patients treated with rituximab between 2000 and 2013, using uniform 13 criteria. Fatal outcomes were found in 14 patients with autoimmune blistering diseases out of 134 patients (10.4%). Patients died due to infections (75%), gastrointestinal (17%) and cardiac events (8%). Causes of death were reported in 101 patients with other autoimmune diseases out of 4320 with a mortality rate of 2.4%. Among them, 44 patients (43.6%) died from infections. A statistical analysis of the data demonstrated that a statistically significant higher mortality rate was observed in patients with AMBD compared to patients with other autoimmune diseases. Similarly, a statistically significant higher rate of death due to infections was reported in patients with AMBD compared to patients with other autoimmune diseases. Use of systemic corticosteroids and immunosuppressive agents as concomitant therapy with rituximab enhanced immunosuppression. In many patients, B-cells were depleted for prolonged periods, even after clinical recovery was observed. Although its main action is depletion of B-cells, rituximab has a

  19. Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy

    Directory of Open Access Journals (Sweden)

    I. V. Sharkova

    2015-01-01

    Full Text Available The algorithm of differential diagnosis of the two most common genetic variants the limb-girdle muscular dystrophy (LGMD2A and DMD, developed on the basis of a comprehensive survey of 85 patients with a diagnosis specification using techniques of DNA analysis. It is shown that the accurate diagnosis of LGMD genetic types should be based on the results of the clinical and genealogical, biochemical and molecular genetic analysis. The proposed algorithm will significantly reduces the economic and time costs with expensive DNA testing.

  20. Preliminary Analysis of Ground-based Orbit Determination Accuracy for the Wide Field Infrared Survey Telescope (WFIRST)

    Science.gov (United States)

    Sease, Brad

    2017-01-01

    The Wide Field Infrared Survey Telescope is a 2.4-meter telescope planned for launch to the Sun-Earth L2 point in 2026. This paper details a preliminary study of the achievable accuracy for WFIRST from ground-based orbit determination routines. The analysis here is divided into two segments. First, a linear covariance analysis of early mission and routine operations provides an estimate of the tracking schedule required to meet mission requirements. Second, a simulated operations scenario gives insight into the expected behavior of a daily Extended Kalman Filter orbit estimate over the first mission year given a variety of potential momentum unloading schemes.