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1.
Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born. 相似文献
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The New Jersey Toxics Reduction Workplan for Ny-Nj Harbor: Distribution of Pcdd/Fs in Ambient Waters
As part of the NJ Toxics Reduction Workplan for NY-NJ Harbor, ambient water samples were collected at fifteen locations along
the tidal portions of the Hackensack, Passaic, Raritan, Rahway and Elizabeth Rivers, and in Newark Bay, the Arthur Kill, and
Kill van Kull. A Trace Organics Platform Sampler was used to collect a total of 75 suspended sediment phase samples between
June 2000 and May 2002. These samples were analyzed for spatial and wet vs. dry weather trends in the 17 polychlorinated dibenzo-p-dioxins
and dibenzofurans (PCDD/Fs; modified USEPA Method 1613b). Mean total PCDD/F (tPCDD/F) concentrations at the sampling locations
ranged between 3.8 and 41.5 ng/g. On average, OCDD accounted for almost 80% of the tPCDD/F concentrations; mean total [PCDD/F
– OCDD] concentrations ranged between 0.84 and 5.20 ng/g at the sampling locations. Mean 2,3,7,8-TCDD concentrations ranged
between 0.003 and 0.28 ng/g, with the highest concentrations (> 0.10 ng/g) along the tidal Passaic and lower Hackensack Rivers,
and in upper Newark Bay. Mean tPCDD/F Toxic Equivalency Quotients (TEQ) ranged between 45 and 344 TEQ pg/g, with the highest
levels found in the lower Passaic River. Toxicity was primarily driven by 2,3,7,8-TCDD concentrations in the Passaic and Hackensack
Rivers, and in Newark Bay. Examples of congener distribution patterns at some of the sampling locations are also presented. 相似文献
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Hackett AG Gustafson DI Moran SJ Hendley P van Wesenbeeck I Simmons ND Klein AJ Kronenberg JM Fuhrman JD Honegger JL Hanzas J Healy D Stone CT 《Journal of environmental quality》2005,34(3):877-889
A surface drinking water monitoring program for four corn (Zea mays L.) herbicides was conducted during 1995-2001. Stratified random sampling was used to select 175 community water systems (CWSs) within a 12-state area, with an emphasis on the most vulnerable sites, based on corn intensity and watershed size. Finished drinking water was monitored at all sites, and raw water was monitored at many sites using activated carbon, which was shown capable of removing herbicides and their degradates from drinking water. Samples were collected biweekly from mid-March through the end of August, and twice during the off-season. The analytical method had a detection limit of 0.05 microg L(-1) for alachlor [2-chloro-N-(2,6-diethylphenyl)-N-(methoxymethyl)-acetamide] and 0.03 microg L(-1) for acetochlor [2-chloro-N-(ethoxymethyl)-N-(2-ethyl-6-methylphenyl)-acetamide], atrazine [6-chloro-N-ethyl-N'-(1-methylethyl)-1,3,5-triazine-2,4-diamine], and metolachlor [2-chloro-N-(2-ethyl-6-methylphenyl)-N-(2-methoxy-1-methylethyl)-acetamide]. Of the 16528 drinking water samples analyzed, acetochlor, alachlor, atrazine, and metolachlor were detected in 19, 7, 87, and 53% of the samples, respectively. During 1999-2001, samples were also analyzed for the presence of six major degradates of the chloroacetanilide herbicides, which were detected more frequently than their parent compounds, despite having higher detection limits of 0.1 to 0.2 microg L(-1). Overall detection frequencies were correlated with product use and environmental fate characteristics. Reservoirs were particularly vulnerable to atrazine, which exceeded its 3 microg L(-1) maximum contaminant level at 25 such sites during 1995-1999. Acetochlor annualized mean concentrations (AMCs) did not exceed its mitigation trigger (2 microg L(-1)) at any site, and comparisons of observed levels with standard measures of human and ecological hazards indicate that it poses no significant risk to human health or the environment. 相似文献
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L. Stefan Ekernas Wesley M. Sarmento Hannah S. Davie Richard P. Reading James Murdoch Ganchimeg J. Wingard Sukh Amgalanbaatar Joel Berger 《Conservation biology》2017,31(2):269-277
In arid regions of the developing world, pastoralists and livestock commonly inhabit protected areas, resulting in human–wildlife conflict. Conflict is inextricably linked to the ecological processes shaping relationships between pastoralists and native herbivores and carnivores. To elucidate relationships underpinning human–wildlife conflict, we synthesized 15 years of ecological and ethnographic data from Ikh Nart Nature Reserve in Mongolia's Gobi steppe. The density of argali (Ovis ammon), the world's largest wild sheep, at Ikh Nart was among the highest in Mongolia, yet livestock were >90% of ungulate biomass and dogs >90% of large‐carnivore biomass. For argali, pastoral activities decreased food availability, increased mortality from dog predation, and potentially increased disease risk. Isotope analyses indicated that livestock accounted for >50% of the diet of the majority of gray wolves (Canis lupus) and up to 90% of diet in 25% of sampled wolves (n = 8). Livestock composed at least 96% of ungulate prey in the single wolf pack for which we collected species‐specific prey data. Interviews with pastoralists indicated that wolves annually killed 1–4% of Ikh Nart's livestock, and pastoralists killed wolves in retribution. Pastoralists reduced wolf survival by killing them, but their livestock were an abundant food source for wolves. Consequently, wolf density appeared to be largely decoupled from argali density, and pastoralists had indirect effects on argali that could be negative if pastoralists increased wolf density (apparent competition) or positive if pastoralists decreased wolf predation (apparent facilitation). Ikh Nart's argali population was stable despite these threats, but livestock are increasingly dominant numerically and functionally relative to argali. To support both native wildlife and pastoral livelihoods, we suggest training dogs to not kill argali, community insurance against livestock losses to wolves, reintroducing key native prey species to hotspots of human–wolf conflict, and developing incentives for pastoralists to reduce livestock density. 相似文献
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Geographic information systems and remote sensing technologies have become an important tool for visualizing conservation management and developing solutions to problems associated with conservation. When multiple organizations separately develop spatial data representations of protected areas, implicit error arises due to variation between data sets. We used boundary data produced by three conservation organizations (International Union for the Conservation of Nature, World Resource Institute, and Uganda Wildlife Authority), for seven Ugandan parks, to study variation in the size represented and the location of boundaries. We found variation in the extent of overlapping total area encompassed by the three data sources, ranging from miniscule (0.4 %) differences to quite large ones (9.0 %). To underscore how protected area boundary discrepancies may have implications to protected area management, we used a landcover classification, defining crop, shrub, forest, savanna, and grassland. The total area in the different landcover classes varied most in smaller protected areas (those less than 329 km2), with forest and cropland area estimates varying up to 65 %. The discrepancies introduced by boundary errors could, in this hypothetical case, generate erroneous findings and could have a significant impact on conservation, such as local-scale management for encroachment and larger-scale assessments of deforestation. 相似文献