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Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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Environmental vulnerability analysis has been sparsely used in environmental performance evaluation (EPE) of technological innovations. The present paper proposes a methodological approach to carry out vulnerability analysis of watersheds and to integrate this analysis into methods of environmental performance evaluation of agro-industrial innovations. This approach is applied to the Ambitec-Life Cycle method, described in Part 1 (this issue) of this study. The case study of green coconut substrate compared to ripe coconut substrate, also described in Part 1 (this issue), is now presented considering the vulnerability analysis of the watersheds where the life cycle stages of these products occur. The integration of vulnerability analysis in Ambitec-Life Cycle contributes to a better understanding of the environmental aspects of agro-industrial technological innovations with potential to cause significant impacts in watersheds where these innovations are implemented.  相似文献   
75.
The paper seeks to analyse the deep structural changes which have occurred in the mining and metals industries over the last twenty years. Slackening demand and its unprecedented persistence have forced producers to innovate and cut costs. Companies have adopted a variety of strategies and the former homogeneity displayed by the industry has given way to a more fluid structure with no clear market leaders.  相似文献   
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Although bromeliads are believed to obtain nutrients from debris deposited by animals in their rosettes, there is little evidence to support this assumption. Using stable isotope methods, we found that the Neotropical jumping spider Psecas chapoda (Salticidae), which lives strictly associated with the terrestrial bromeliad Bromelia balansae, contributed 18% of the total nitrogen of its host plant in a greenhouse experiment. In a one-year field experiment, plants with spiders produced leaves 15% longer than plants from which the spiders were excluded. This is the first study to show nutrient provisioning in a spider-plant system. Because several animal species live strictly associated with bromeliad rosettes, this type of facultative mutualism involving the Bromeliaceae may be more common than previously thought.  相似文献   
77.
Dissipation of DDT in a heavily contaminated soil in Mato Grosso, Brazil   总被引:8,自引:0,他引:8  
After the prohibition of organochlorine-pesticide use in Brazil for controlling insect vector diseases, Mato Grosso State gathered the exceeding DDT and stored it irregularly in an open air area that belongs to the National Health Foundation, causing soil contamination. This study aimed to evaluate the contamination level and dissipation of p,p'-DDT and p,p'-DDE in this area. For that, surface soil samples were collected on 19 September 2000, 15 December 2000, 4 April 2001 and soil samples 30-40 cm; 60-70 cm and 90-100 cm deep were taken from five points in the studied area on 17 July 2001. The contaminants were determined by a small scale method which consists on extraction and clean-up steps combined into one step by transferring soil samples mixed with neutral alumina to a chromatographic column prepacked with neutral alumina and elution with hexane:dichloromethane (7:3 v:v). The eluate was concentrated and the analytes were quantified by gas chromatography with an electron-capture detector. p,p'-DDT at surface soil ranged from 3,800 to 7,300 mg kg(-1). 30-40 cm deep soil sample concentrations varied from 0.036 to 440 mg kg(-1) while 90-100 cm deep samples varied from 0.069 to 180 mg kg(-1). Volatilization is probably the main dissipation process. The p,p'-DDT is moving slowly downward in the soil profile, however, the levels of this contaminant are high enough to present risk to underground waters.  相似文献   
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Environmental Science and Pollution Research - The contamination left by abandoned mines demands sustainable mitigation measures. Hence, the aim of this study was to examine the phytoremediator...  相似文献   
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Environmental Science and Pollution Research - Bisphenol-A is widely used chemical in industry and unfortunately often detected in natural waters. Considered as an emerging pollutant, bisphenol-A...  相似文献   
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