938 resultados para Multivariate Linkage Analysis


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Thirty-eight samples from DSDP Sites 549 to 551 were analyzed for major and minor components and trace element abundances. Multivariate statistical analysis of geochemical data groups the samples into two major classes: an organic-carbon- rich group (> 1% TOC) containing high levels of marine organic matter and certain trace elements (Cu, Zn, V, Ni, Co, Ba, and Cr) and an organic-carbon-lean group depleted in these components. The greatest organic and trace metal enrichments occur in the uppermost Albian to Turanian sections of Sites 549 to 551. Carbon-isotopic values of bulk carbonate for the middle Cenomanian section of Site 550 (2.35 to 2.70 per mil) and the upper Cenomanian-Turonian sections of Sites 549 (3.35 to 4.47 per mil) and 551 (3.13 to 3.72 per mil) are similar to coeval values reported elsewhere in the region. The relatively heavy d13C values from Sites 549 and 551 indicate that this interval was deposited during the global "oceanic anoxic event" that occurred at the Cenomanian/Turonian boundary. Variation in the d18O of bulk carbonate for Section 550B-18-1 of middle Cenomanian age suggests that paleosalinity and/or paleotemperature variations may have occurred concurrently with periodic anoxia at this site. Climatically controlled increases in surface-water runoff may have caused surface waters to periodically freshen, resulting in stable salinity stratification

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Samples collected at two different depths (ca. 3200 and ca. 4200 m) in the Setúbal and Cascais canyons off the Portuguese coast, during the HERMES RRS Charles Darwin cruise CD179, were analysed for (1) sediment biogeochemistry (TOC, TN) and (2) composition, and structural and trophic diversity of nematode communities. Multivariate PERMANOVA analysis on the nematode community data revealed differences between sediment layers that were greater than differences between canyons, water depths, and stations. This suggests that biogeochemical gradients along the vertical sediment profile are crucial in determining nematode community structure. The interaction between canyon conditions and the nematode community is illustrated by biogeochemical patterns in the sediment and the prevalence of nematode genera that are able to persist in disturbed sediments. Trophic analysis of the nematode community indicated that non-selective deposit feeders are dominant, presumably because of their non-selective feeding behaviour compared to other feeding types, which gives them a competitive advantage in exploiting lower-quality food resources. This study presents a preliminary conceptual scheme for interactions between canyon conditions and the resident fauna.

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Planktic foraminiferal (PF) flux and faunal composition from three sediment trap time series of 2002-2004 in the northeastern Atlantic show pronounced year-to-year variations despite similar sea surface temperature (SST). The averaged fauna of the in 2002/2003 is dominated by the species Globigerinita glutinata, whereas in 2003/2004 the averaged fauna is dominated by Globigerinoides ruber. We show that PF species respond primarily to productivity, triggered by the seasonal dynamics of vertical stratification of the upper water column. Multivariate statistical analysis reveals three distinct species groups, linked to bulk particle flux, to chlorophyll concentrations and to summer/fall oligotrophy with high SST and stratification. We speculate that the distinct nutrition strategies of strictly asymbiontic, facultatively symbiontic, and symbiontic species may play a key role in explaining their abundances and temporal succession. Advection of water masses within the Azores Current and species expatriation result in a highly diverse PF assemblage. The Azores Frontal Zone may have influenced the trap site in 2002, indicated by subsurface water cooling, by highest PF flux and high flux of the deep-dwelling species Globorotalia scitula. Similarity analyses with core top samples from the global ocean including 746 sites from the Atlantic suggest that the trap faunas have only poor analogs in the surface sediments. These differences have to be taken into account when estimating past oceanic properties from sediment PF data in the eastern subtropical North Atlantic.

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Sites 1085, 1086 and 1087 were drilled off South Africa during Ocean Drilling Program (ODP) Leg 175 to investigate the Benguela Current System. While previous studies have focused on reconstructing the Neogene palaeoceanographic and palaeoclimatic history of these sites, palynology has been largely ignored, except for the Late Pliocene and Quaternary. This study presents palynological data from the upper Middle Miocene to lower Upper Pliocene sediments in Holes 1085A, 1086A and 1087C that provide complementary information about the history of the area. Abundant and diverse marine palynomorphs (mainly dinoflagellate cysts), rare spores and pollen, and dispersed organic matter have been recovered. Multivariate statistical analysis of dispersed organic matter identified three palynofacies assemblages (A, B, C) in the most continuous hole (1085A), and they were defined primarily by amorphous organic matter (AOM), and to a lesser extent black debris, structured phytoclasts, degraded phytoclasts, and marine palynomorphs. Ecostratigraphic interpretation based on dinoflagellate cyst, spore-pollen and palynofacies data allowed us to identify several palaeoceanographic and palaeoclimatic signals. First, the late Middle Miocene was subtropical, and sediments contained the highest percentages of land-derived organic matter, even though they are rich in AOM (palynofacies assemblage A). Second, the Late Miocene was cool-temperate and characterized by periods of intensified upwelling, increase in productivity, abundant and diverse oceanic dinoflagellate cysts, and the highest percentages of AOM (palynofacies assemblage C). Third, the Early to early Late Pliocene was warm-temperate with some dry intervals (increase in grass pollen) and intensified upwelling. Fourth, the Neogene "carbonate crash" identified in other southern oceans was recognized in two palynofacies A samples in Hole 1085A that are nearly barren of dinoflagellate cysts: one Middle Miocene sample (590 mbsf, 13.62 Ma) and one Upper Miocene sample (355 mbsf, 6.5 Ma). Finally, the extremely low percentages of pollen suggest sparse vegetation on the adjacent landmass, and Namib desert conditions were already in existence during the late Middle Miocene.

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The Global Ocean Sampling (GOS) expedition is currently the largest and geographically most comprehensive metagenomic dataset, including samples from the Atlantic, Pacific, and Indian Oceans. This study makes use of the wide range of environmental conditions and habitats encompassed within the GOS sites in order to investigate the ecological structuring of bacterial and archaeal taxon ranks. Community structures based on taxonomically classified 16S ribosomal RNA (rRNA) gene fragments at phylum, class, order, family, and genus rank levels were examined using multivariate statistical analysis, and the results were inspected in the context of oceanographic environmental variables and structured habitat classifications. At all taxon rank levels, community structures of neritic, oceanic, estuarine biomes, as well as other exotic biomes (salt marsh, lake, mangrove), were readily distinguishable from each other. A strong structuring of the communities with chlorophyll a concentration and a weaker yet significant structuring with temperature and salinity were observed. Furthermore, there were significant correlations between community structures and habitat classification. These results were used for further investigation of one-to-one relationships between taxa and environment and provided indications for ecological preferences shaped by primary production for both cultured and uncultured bacterial and archaeal clades.

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The Asian International Input-Output (IO) Table that is compiled by Institute of Developing Economies-JETRO (IDE), was constructed in Isard type form. Thus, it required a lot of time to publish. In order to avoid this time-lag problem and establish a more simple compilation technique, this paper concentrates on verifying the possibility of using the Chenery-Moses type estimation technique. If possible, applying the Chenery-Moses instead of the Isard type would be effective for both impact and linkage analysis (except for some countries such as Malaysia and Singapore and some primary sectors. Using Chenery-Moses estimation method, production of the Asian International IO table can be reduced by two years. And more, this method might have the possibilities to be applied for updating exercise of Asian IO table.

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Spatial variability of Vertisol properties is relevant for identifying those zones with physical degradation. In this sense, one has to face the problem of identifying the origin and distribution of spatial variability patterns. The objectives of the present work were (i) to quantify the spatial structure of different physical properties collected from a Vertisol, (ii) to search for potential correlations between different spatial patterns and (iii) to identify relevant components through multivariate spatial analysis. The study was conducted on a Vertisol (Typic Hapludert) dedicated to sugarcane (Saccharum officinarum L.) production during the last sixty years. We used six soil properties collected from a squared grid (225 points) (penetrometer resistance (PR), total porosity, fragmentation dimension (Df), vertical electrical conductivity (ECv), horizontal electrical conductivity (ECh) and soil water content (WC)). All the original data sets were z-transformed before geostatistical analysis. Three different types of semivariogram models were necessary for fitting individual experimental semivariograms. This suggests the different natures of spatial variability patterns. Soil water content rendered the largest nugget effect (C0 = 0.933) while soil total porosity showed the largest range of spatial correlation (A = 43.92 m). The bivariate geostatistical analysis also rendered significant cross-semivariance between different paired soil properties. However, four different semivariogram models were required in that case. This indicates an underlying co-regionalization between different soil properties, which is of interest for delineating management zones within sugarcane fields. Cross-semivariograms showed larger correlation ranges than individual, univariate, semivariograms (A ≥ 29 m). All the findings were supported by multivariate spatial analysis, which showed the influence of soil tillage operations, harvesting machinery and irrigation water distribution on the status of the investigated area.

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Case-based reasoning (CBR) is a unique tool for the evaluation of possible failure of firms (EOPFOF) for its eases of interpretation and implementation. Ensemble computing, a variation of group decision in society, provides a potential means of improving predictive performance of CBR-based EOPFOF. This research aims to integrate bagging and proportion case-basing with CBR to generate a method of proportion bagging CBR for EOPFOF. Diverse multiple case bases are first produced by multiple case-basing, in which a volume parameter is introduced to control the size of each case base. Then, the classic case retrieval algorithm is implemented to generate diverse member CBR predictors. Majority voting, the most frequently used mechanism in ensemble computing, is finally used to aggregate outputs of member CBR predictors in order to produce final prediction of the CBR ensemble. In an empirical experiment, we statistically validated the results of the CBR ensemble from multiple case bases by comparing them with those of multivariate discriminant analysis, logistic regression, classic CBR, the best member CBR predictor and bagging CBR ensemble. The results from Chinese EOPFOF prior to 3 years indicate that the new CBR ensemble, which significantly improved CBRs predictive ability, outperformed all the comparative methods.

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We have investigated physical distances and directions of transposition of the maize transposable element Ac in Arabidopsis thaliana. We prepared a transferred DNA (T-DNA) construct that carried a non-autonomous derivative of Ac with a site for cleavage by endonuclease I-SceI (designated dAc-I-RS element). Another cleavage site was also introduced into the T-DNA region outside dAc-I-RS. Three transgenic Arabidopsis plants were generated, each of which had a single copy of the T-DNA at a different chromosomal location. These transgenic plants were crossed with the Arabidopsis that carried the gene for Ac transposase and progeny in which dAc-I-RS had been transposed were isolated. After digestion of the genomic DNA of these progeny with endonuclease I-SceI, sizes of segment of DNA were determined by pulse-field gel electrophoresis. We also performed linkage analysis for the transposed elements and sites of mutations near the elements. Our results showed that 50% of all transposition events had occurred within 1,700 kb on the same chromosome, with 35% within 200 kb, and that the elements transposed in both directions on the chromosome with roughly equal probability. The data thus indicate that the Ac–Ds system is most useful for tagging of genes that are present within 200 kb of the chromosomal site of Ac in Arabidopsis. In addition, determination of the precise localization of the transposed dAc-I-RS element should definitely assist in map-based cloning of genes around insertion sites.

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Genetic mapping of traits and mutations in mammals is dependent upon linkage analysis. The resolution achieved by this method is related to the number of offspring that can be scored and position of crossovers near a gene. Higher precision mapping is obtained by expanding the collection of progeny from an appropriate cross, which in turn increases the number of potentially informative recombinants. A more efficient approach would be to increase the frequency of recombination, rather than the number of progeny. The anticancer drug cisplatin, which causes DNA strand breakage and is highly recombinogenic in some model organisms, was tested for its ability to induce germ-line recombination in mice. Males were exposed to cisplatin and mated at various times thereafter to monitor the number of crossovers inherited by offspring. We observed a striking increase on all three chromosomes examined and established a regimen that nearly doubled crossover frequency. The timing of the response indicated that the crossovers were induced at the early pachytene stage of meiosis I. The ability to increase recombination should facilitate genetic mapping and positional cloning in mice.

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Bipolar mood disorder (BP) is a debilitating syndrome characterized by episodes of mania and depression. We designed a multistage study to detect all major loci predisposing to severe BP (termed BP-I) in two pedigrees drawn from the Central Valley of Costa Rica, where the population is largely descended from a few founders in the 16th–18th centuries. We considered only individuals with BP-I as affected and screened the genome for linkage with 473 microsatellite markers. We used a model for linkage analysis that incorporated a high phenocopy rate and a conservative estimate of penetrance. Our goal in this study was not to establish definitive linkage but rather to detect all regions possibly harboring major genes for BP-I in these pedigrees. To facilitate this aim, we evaluated the degree to which markers that were informative in our data set provided coverage of each genome region; we estimate that at least 94% of the genome has been covered, at a predesignated threshold determined through prior linkage simulation analyses. We report here the results of our genome screen for BP-I loci and indicate several regions that merit further study, including segments in 18q, 18p, and 11p, in which suggestive lod scores were observed for two or more contiguous markers. Isolated lod scores that exceeded our thresholds in one or both families also occurred on chromosomes 1, 2, 3, 4, 5, 7, 13, 15, 16, and 17. Interesting regions highlighted in this genome screen will be followed up using linkage disequilibrium (LD) methods.

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Our preliminary family studies have suggested that some female first-degree relatives of women with polycystic ovary syndrome (PCOS) have hyperandrogenemia per se. It was our hypothesis that this may be a genetic trait and thus could represent a phenotype suitable for linkage analysis. To investigate this hypothesis, we examined 115 sisters of 80 probands with PCOS from unrelated families. PCOS was diagnosed by the combination of elevated serum androgen levels and ≤6 menses per year with the exclusion of secondary causes. The sisters were compared with 70 healthy age- and weight-comparable control women with regular menses, no clinical evidence of hyperandrogenemia, and normal glucose tolerance. Twenty-two percent of the sisters fulfilled diagnostic criteria for PCOS. In addition, 24% of the sisters had hyperandrogenemia and regular menstrual cycles. Circulating testosterone (T) and nonsex hormone-binding globulin-bound testosterone (uT) levels in both of these groups of sisters were significantly increased compared with unaffected sisters and control women (P < 0.0001 for both T and uT). Probands, sisters with PCOS, and hyperandrogenemic sisters had elevated serum luteinizing hormone levels compared with control women. We conclude that there is familial aggregation of hyperandrogenemia (with or without oligomenorrhea) in PCOS kindreds. In affected sisters, only one-half have oligomenorrhea and hyperandrogenemia characteristic of PCOS, whereas the remaining one-half have hyperandrogenemia per se. This familial aggregation of hyperandrogenemia in PCOS kindreds suggests that it is a genetic trait. We propose that hyperandrogenemia be used to assign affected status in linkage studies designed to identify PCOS genes.

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X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency characterized by increased susceptibility to Epstein–Barr virus (EBV). In affected males, primary EBV infection leads to the uncontrolled proliferation of virus-containing B cells and reactive cytotoxic T cells, often culminating in the development of high-grade lymphoma. The XLP gene has been mapped to chromosome band Xq25 through linkage analysis and the discovery of patients harboring large constitutional genomic deletions. We describe here the presence of small deletions and intragenic mutations that specifically disrupt a gene named DSHP in 6 of 10 unrelated patients with XLP. This gene encodes a predicted protein of 128 amino acids composing a single SH2 domain with extensive homology to the SH2 domain of SHIP, an inositol polyphosphate 5-phosphatase that functions as a negative regulator of lymphocyte activation. DSHP is expressed in transformed T cell lines and is induced following in vitro activation of peripheral blood T lymphocytes. Expression of DSHP is restricted in vivo to lymphoid tissues, and RNA in situ hybridization demonstrates DSHP expression in activated T and B cell regions of reactive lymph nodes and in both T and B cell neoplasms. These observations confirm the identity of DSHP as the gene responsible for XLP, and suggest a role in the regulation of lymphocyte activation and proliferation. Induction of DSHP may sustain the immune response by interfering with SHIP-mediated inhibition of lymphocyte activation, while its inactivation in XLP patients results in a selective immunodeficiency to EBV.

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The region of human chromosome 22q11 is prone to rearrangements. The resulting chromosomal abnormalities are involved in Velo-cardio-facial and DiGeorge syndromes (VCFS and DGS) (deletions), “cat eye” syndrome (duplications), and certain types of tumors (translocations). As a prelude to the development of mouse models for VCFS/DGS by generating targeted deletions in the mouse genome, we examined the organization of genes from human chromosome 22q11 in the mouse. Using genetic linkage analysis and detailed physical mapping, we show that genes from a relatively small region of human 22q11 are distributed on three mouse chromosomes (MMU6, MMU10, and MMU16). Furthermore, although the region corresponding to about 2.5 megabases of the VCFS/DGS critical region is located on mouse chromosome 16, the relative organization of the region is quite different from that in humans. Our results show that the instability of the 22q11 region is not restricted to humans but may have been present throughout evolution. The results also underscore the importance of detailed comparative mapping of genes in mice and humans as a prerequisite for the development of mouse models of human diseases involving chromosomal rearrangements.

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Genetic analysis of limiting quantities of genomic DNA play an important role in DNA forensics, paleoarcheology, genetic disease diagnosis, genetic linkage analysis, and genetic diversity studies. We have tested the ability of degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) to amplify picogram quantities of human genomic DNA for the purpose of increasing the amount of template for genotyping with microsatellite repeat markers. DNA was uniformly amplified at a large number of typable loci throughout the human genome with starting template DNAs from as little as 15 pg to as much as 400 ng. A much greater-fold enrichment was seen for the smaller genomic DOP-PCRs. All markers tested were amplified from starting genomic DNAs in the range of 0.6–40 ng with amplifications of 200- to 600-fold. The DOP-PCR-amplified genomic DNA was an excellent and reliable template for genotyping with microsatellites, which give distinct bands with no increase in stutter artifact on di-, tri-, and tetranucleotide repeats. There appears to be equal amplification of genomic DNA from 55 of 55 tested discrete microsatellites implying near complete coverage of the human genome. Thus, DOP-PCR appears to allow unbiased, hundreds-fold whole genome amplification of human genomic DNA for genotypic analysis.