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The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.  相似文献   
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Persistent Organic Pollutants (POPs) threaten human health and the global environment. Recognizing their dangers many countries began to limit or ban POPs production, use, and release in the 1990s. Eventually the Stockholm Convention on POPs, was adopted in 2001 and entered into force in 2004. The Global Environment Facility (GEF) provides financial support to developing country Parties for the implementation of the Stockholm Convention. The GEF’s POPs investment portfolio focuses on: 1) strengthening the capacity of developing country Parties to implement the Stockholm Convention; 2) establishing and supporting partnerships to develop and implement National Implementation Plans (NIPs), and 3) demonstrating and deploying best technologies and practices to reduce POPs emission, including development of safe alternatives. Since 2001 the GEF has committed US$568.8 million to POPs projects and leveraged some US$1474.5 million in co-financing from partners in the public and private sectors, bringing the total value of the GEF POPs portfolio to over US$2 billion. With GEF support, 108 developing country Parties have developed their NIPs. The GEF also financed 109 projects for the implementation of the Convention. Upon completion, these GEF POPs investments will contribute to the disposal of more than 70,000 tons of Polychlorinated Biphenyls (PCBs) oil, contaminated equipments, and waste, more than 40,000 tons of obsolete POPs pesticides and associated waste, and reducing dioxin/furan and mercury emission by introducing environmentally sound technologies and best practices. This paper summarizes: 1) direct and indirect GEF investments to support the goals of the Stockholm Convention; 2) investment case studies on PCB, DichloroDiphenylTrichloroethane (DDT), chlordane and mirex, medical waste, obsolete POPs and engaging civil society; and 3) lessons learned in terms of GEF financing strategies, best technologies and environmental practices to address POPs.  相似文献   
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Muckian L  Grant R  Doyle E  Clipson N 《Chemosphere》2007,68(8):1535-1541
Bacterial community structure was examined in polycyclic aromatic hydrocarbon (PAH) contaminated soil taken from a timber treatment facility in southern Ireland. Profiles of soil bacterial communities were generated using a molecular fingerprinting technique, terminal restriction fragment length polymorphism (TRFLP), and results were interpreted using sophisticated multivariate statistical analysis. Findings suggested that there was a correlation between PAH structure and bacterial community composition. Initial characterisation of soil from the timber treatment facility indicated that PAH contamination was unevenly distributed across the site. Bacterial community composition was correlated with the type of PAH present, with microbial community structure associated with soil contaminated with two-ringed PAHs only being distinctly different to communities in soils contaminated with multi-component PAH mixtures. Typically the number of bacterial ribotypes detected in samples did not appear to be adversely affected by the level of contamination.  相似文献   
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Pre-restoration studies typically focus on physical habitat, rather than the food-base that supports aquatic species. However, both food and habitat are necessary to support the species that habitat restoration is frequently aimed at recovering. Here we evaluate if and how the productivity of the food-base that supports fish production is impaired in a dredge-mined floodplain within the Yankee Fork Salmon River (YFSR), Idaho (USA); a site where past restoration has occurred and where more has been proposed to help recover anadromous salmonids. Utilizing an ecosystem approach, we found that the dredged segment had comparable terrestrial leaf and invertebrate inputs, aquatic primary producer biomass, and production of aquatic invertebrates relative to five reference floodplains. Thus, the food-base in the dredged segment did not necessarily appear impaired. On the other hand, we observed that off-channel aquatic habitats were frequently important to productivity in reference floodplains, and the connection of these habitats in the dredged segment via previous restoration increased invertebrate productivity by 58%. However, using a simple bioenergetic model, we estimated that the invertebrate food-base was at least 4× larger than present demand for food by fish in dredged and reference segments. In the context of salmon recovery efforts, this observation questions whether additional food-base productivity provided by further habitat restoration would be warranted in the YFSR. Together, our findings highlight the importance of studies that assess the aquatic food-base, and emphasize the need for more robust ecosystem models that evaluate factors potentially limiting fish populations that are the target of restoration.  相似文献   
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The role of sulfur compounds in our environment has been the subject of much speculation during the past two decades. An evaluation of the effect of man-made contributions to the biogeochemical sulfur cycle requires a comprehensive examination of source magnitudes, atmospheric concentrations and removal processes. Many voids exist in our present knowledge of these parameters despite the contributions of numerous researchers. Adequate information is needed concerning the various forms of sulfur as well as other critical constituents which exist in our biosphere so that their interrelationship and role in the mechanisms of the sulfur cycle may be more fully understood.  相似文献   
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