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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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This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.  相似文献   
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Book reviews     
Making Cities Work: the role of local government in the urban environment. Richard Gilbert, Don Stevenson, Herbert Girardet & Richard Stren, 1996, London, Earthscan, 203pp. ISBN 1 85383 354 1, £13.95 pbk

Environmental Policy in an International Context, Vols 1-3: Perspectives, Conflicts and Prospects. P. Glasbergen & A. Blowers (Series Eds) London, Arnold

Rhetoric and Reality in Environmental Policy. M. Wintle & R. Reeve (Eds), 1994, Aldershot, Avebury Studies in Green Research, 154 pp. ISBN 1 85628 927 3

FutureNatural: Nature, Science, Culture. G. Roberston et al. (Eds) 1996, London, Routledge, ISBN 0415 070139, £40.00 hbk

Environmental Policy with Political Integration: the European Union and the United States. New horizons in environmental economics. John B. Braden, Henk Folmer & Thomas S. Ulen (Eds), 1996, Cheltenham, Elgar Publishing, 477 pp. ISBN 1 85898 217 0  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   
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ABSTRACT: Recent research that couples climate change scenarios based on general circulation models (GCM) with Great Lakes hydrologic models has indicated that average water levels are projected to decline in the future. This paper outlines a methodology to assess the potential impact of declining water levels on Great Lakes waterfront communities, using the Lake Huron shoreline at Goderich, Ontario, as an example. The methodology utilizes a geographic information system (GIS) to combine topographic and bathymetric datasets. A digital elevation surface is used to model projected shoreline change for 2050 using water level scenarios. An arbitrary scenario, based on a 1 m decline from February 2001 lake levels, is also modeled. By creating a series of shoreline scenarios, a range of impact and cost scenarios are generated for the Goderich Harbor and adjacent marinas. Additional harbor and marina dredging could cost as much as CDN $7.6 million. Lake freighters may experience a 30 percent loss in vessel capacity. The methodology is used to provide initial estimates of the potential impacts of climate change that can be readily updated as more robust climate change scenarios become available and is adaptable for use in other Great Lakes coastal communities.  相似文献   
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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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Air quality in Cyprus is influenced by both local and transported pollution, including desert dust storms. We examined PM10 concentration data collected in Nicosia (urban representative) from April 1, 1993, through December 11, 2008, and in Ayia Marina (rural background representative) from January 1, 1999, through December 31, 2008. Measurements were conducted using a Tapered Element Oscillating Micro-balance (TEOM). PM10 concentrations, meteorological records, and satellite data were used to identify dust storm days. We investigated long-term trends using a Generalized Additive Model (GAM) after controlling for day of week, month, temperature, wind speed, and relative humidity. In Nicosia, annual PM10 concentrations ranged from 50.4 to 63.8 μg/m3 and exceeded the EU annual standard limit enacted in 2005 of 40 μg/m3 every year. A large, statistically significant impact of urban sources (defined as the difference between urban and background levels) was seen in Nicosia over the period 2000–2008, and was highest during traffic hours, weekdays, cold months, and low wind conditions. Our estimate of the mean (standard error) contribution of urban sources to the daily ambient PM10 was 24.0 (0.4) μg/m3. The study of yearly trends showed that PM10 levels in Nicosia decreased from 59.4 μg/m3 in 1993 to 49.0 μg/m3 in 2008, probably in part as a result of traffic emission control policies in Cyprus. In Ayia Marina, annual concentrations ranged from 27.3 to 35.6 μg/m3, and no obvious time trends were observed. The levels measured at the Cyprus background site are comparable to background concentrations reported in other Eastern Mediterranean countries. Average daily PM10 concentrations during desert dust storms were around 100 μg/m3 since 2000 and much higher in earlier years. Despite the large impact of dust storms and their increasing frequency over time, dust storms were responsible for a small fraction of the exceedances of the daily PM10 limit.
ImplicationsThis paper examines PM10 concentrations in Nicosia, Cyprus, from 1993 to 2008. The decrease in PM10 levels in Nicosia suggests that the implementation of traffic emission control policies in Cyprus has been effective. However, particle levels still exceeded the European Union annual standard, and dust storms were responsible for a small fraction of the daily PM10 limit exceedances. Other natural particles that are not assessed in this study, such as resuspended soil and sea salt, may be responsible in part for the high particle levels.  相似文献   
10.
Why social values cannot be changed for the sake of conservation   总被引:1,自引:0,他引:1       下载免费PDF全文
The hope for creating widespread change in social values has endured among conservation professionals since early calls by Aldo Leopold for a “land ethic.” However, there has been little serious attention in conservation to the fields of investigation that address values, how they are formed, and how they change. We introduce a social–ecological systems conceptual approach in which values are seen not only as motivational goals people hold but also as ideas that are deeply embedded in society's material culture, collective behaviors, traditions, and institutions. Values define and bind groups, organizations, and societies; serve an adaptive role; and are typically stable across generations. When abrupt value changes occur, they are in response to substantial alterations in the social–ecological context. Such changes build on prior value structures and do not result in complete replacement. Given this understanding of values, we conclude that deliberate efforts to orchestrate value shifts for conservation are unlikely to be effective. Instead, there is an urgent need for research on values with a multilevel and dynamic view that can inform innovative conservation strategies for working within existing value structures. New directions facilitated by a systems approach will enhance understanding of the role values play in shaping conservation challenges and improve management of the human component of conservation.  相似文献   
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