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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   
3.
Permanent vegetation plots were established on mixed overburden and topsoiled overburden on a lignite test pit in eastern Texas in 1982. Vegetative treatments included two grass-legume treatments [switchgrass (panicum virgattun) — sideoats grama (Bouteloua curtipendula) — subterrancan elover (Trifolitun subterranean) and litte bluestem (Schizachyriun scoparium) — sideoats grama (Bouteloua curtipendula) — Illinois hundleflower (Dessmanthus illinoiensis)] and three monocultures [Coastal bermudagrass (Cynodon dactylon), bahia grass (paspalum notatum) and yellow Indiangrass (Sorghastrum nutans)]. Water was applied to the 0.5m2 plots using a sprinklertype rainfall simulator and quality of runoff was determined for each plot. Parameters analyzed included: settleable solids, total filterable solids, sediment production, infiltration rate, nitrites, nitrates, total iron and total manganese. Topsoiling significantly increased inliltration and significantly decreased filterable sediments, sediment production and settleable solids. The hydrologie qualities of the switchgrass-sideoats grama-subterranean elover mixture coincided closely with those of the Coastal bermudagrass monoculture.  相似文献   
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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   
6.
To investigate the ability of elasmobranchs to distinguish between differing prey-type electric fields we examined the electroreceptive foraging behaviour of a model species, Scyliorhinus canicula (small-spotted catshark). Catshark preferences were studied by behaviourally conditioning them to swim through narrow tunnels, and on exit presenting them simultaneously with two different electric fields. Their subsequent choices of the following paired options were recorded; (i) Two artificial electric fields (dipole electrodes) with different magnitude direct current (D.C.), (ii) Two artificial electric fields, one D.C. and the other alternating current (A.C.), of the same magnitude, and (iii) similar magnitude, natural and artificial D.C. electric fields associated with shore crabs and dipole electrodes respectively. We found a highly significant preference for the stronger D.C. electric field and a less pronounced, but still significant, preference for the A.C. electric field rather than the D.C. electric field. No preference was demonstrated between the artificial and natural D.C. electric fields. The findings are discussed in relation to the animal’s diet and ecology and with regard to anthropogenic sources of electric fields within their habitat.  相似文献   
7.
Accurate assessment of shark population status is essential for conservation but is often constrained by limited and unreliable data. To provide a basis for improved management of shark resources, we analyzed a long‐term record of species‐specific catches, sizes, and sexes of sharks collected by onboard observers in the western and central Pacific Ocean from 1995 to 2010. Using generalized linear models, we estimated population‐status indicators on the basis of catch rate and biological indicators of fishing pressure on the basis of median size to identify trends for blue (Prionace glauca), mako (Isurus spp.), oceanic whitetip (Carcharhinus longimanus), and silky (Carcharhinus falciformis) sharks. Standardized catch rates of longline fleets declined significantly for blue sharks in the North Pacific (by 5% per year [CI 2% to 8%]), for mako sharks in the North Pacific (by 7% per year [CI 3% to 11%]), and for oceanic whitetip sharks in tropical waters (by 17% per year [CI 14% to 20%]). Median lengths of silky and oceanic whitetip sharks decreased significantly in their core habitat, and almost all sampled silky sharks were immature. Our results are consistent with results of analyses of similar data sets. Combined, these results and evidence of targeted fishing for sharks in some regional fisheries heighten concerns for sustainable utilization, particularly for oceanic whitetip and North Pacific blue sharks. Regional regulations that prohibit shark finning (removal of fins and discarding of the carcass) were enacted in 2007 and are in many cases the only form of control on shark catches. However, there is little evidence of a reduction of finning in longline fisheries. In addition, silky and oceanic whitetip sharks are more frequently retained than finned, which suggests that even full implementation of and adherence to a finning prohibition may not substantially reduce mortality rates for these species. We argue that finning prohibitions divert attention from assessing whether catch levels are sustainable and that the need for management of sharks should not be addressed by measures that are simple to implement but complex to enforce and evaluate. Tendencias Poblacionales de Tiburones del Océano Pacífico y la Utilidad de Regulaciones sobre Cercenamiento de Aletas  相似文献   
8.
Competition for space changes species’ distributions and community organization on tropical rocky shores, and the presence of secondary metabolites in the tissues of non-indigenous species may aid them in establishing and expanding their range through negative competitive interactions. The aim of this study was to describe the range of chemical substances produced by the non-indigenous cup corals Tubastraea coccinea and T. tagusensis and to test whether they varied in the field when the corals were placed in proximity to two local competitors. Cholest-5-en-3β-ol and 9-octadecanoic acid were two common secondary metabolites found in the tissues of Tubastraea. In the competition interaction experiment, necrosis was detected on the tissues of the coral Mussismilia hispida, and this species induced variation in sterol, alkaloid, and fatty acid production in Tubastraea tissues. In contrast, a sponge overgrew Tubastraea colonies. These results indicate that chemical defense may contribute to the ability of these non-indigenous corals to invade native communities.  相似文献   
9.
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   
10.
Understanding the causes and consequences of variability in trophic status is important for interpreting population dynamics and for identifying important habitats for protected species like marine turtles. In the northwest Atlantic Ocean, many leatherback turtles (Dermochelys coriacea) from distinct breeding stocks throughout the Wider Caribbean region migrate to Canadian waters seasonally to feed, but their trophic status during the migratory and breeding cycle and its implications have not yet been described. In this study, we used stable carbon and nitrogen isotope analyses of bulk skin to characterize the trophic status of leatherbacks in Atlantic Canadian waters by identifying trophic patterns among turtles and the factors influencing those patterns. δ15N values of adult males and females were significantly higher than those of turtles of unknown gender (i.e., presumed to be subadults), and δ15N increased significantly with body size. We found no significant differences among average stable isotope values of turtles according to breeding stock origin. Significant inter-annual variation in δ15N among cohorts probably reflects broad-scale oceanographic variability that drives fluctuations in stable isotope values of nutrient sources transferred through several trophic positions to leatherbacks, variation in baseline isotope values among different overwintering habitats used by leatherbacks, or a combination of both. Our results demonstrate that understanding effects of demographic and physiological factors, as well as oceanographic conditions, on trophic status is key to explaining observed patterns in population dynamics and for identifying important habitats for widely distributed, long-lived species like leatherbacks.  相似文献   
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