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81.
Paule Bénit Jean-Paul Bonnefont Ali Kara Mostefa Christine Francannet Arnold Munnich Pierre F. Ray 《黑龙江环境通报》2001,21(4):279-283
Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Cost of parental care in the woodroach Cryptocercus punctulatus Scudder (Dictyoptera: Cryptocercidae) 总被引:2,自引:0,他引:2
Summary The objective of this study was to measure the effect of parental care on the reproductive capabilities and survival of adult Cryptocercus punctulatus Scudder. Brood removal studies show that the long term parental care exhibited by this woodroach can exact a cost in terms of future reproduction by delaying a second reproductive episode. If C. punctulatus is used as a model of the ancestral state of the termites, changes in responsibility for care giving behavior can account for all the higher components of eusociality (overlap of worker generations, brood care by workers, non-reproductive castes) by shifting the cost of parental care from the adults to the oldest offspring. 相似文献
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The stereoisomers of metolachlor and its two polar metabolites [ethane sulfonic acid (ESA) and oxanilic acid (OXA)] were separated using liquid chromatography-mass spectrometry (LC-MS) and capillary zone electrophoresis (CZE), respectively. The separation of metolachlor enantiomers was achieved using a LC-MS equipped with a chiral stationary phase based on cellulose tris(3,5-dimethylphenyl carbamate) and an atmospheric pressure chemical ionization source operated under positive ion mode. The enantiomers of ESA and OXA were separated using CZE with gamma-cyclodextrin (gamma-CD) as chiral selector. Various CZE conditions were investigated to achieve the best resolution of the ESA and OXA enantiomers. The optimum background CZE electrolyte was found to consist of borate buffer (pH=9) containing 20% methanol (v/v) and 2.5% gamma-CD (w/v). Maximum resolution of ESA and OXA enantiomers was achieved using a capillary temperature of 15 degrees C and applied voltage of 30 kV. The applicability of the LC-MS and CZE methods was demonstrated successfully on the enantiomeric analysis of metolachlor and its metabolites in samples from a soil and water degradation study that was set up to probe the stereoselectivity of metolachlor biodegradation. These techniques allow the enantiomeric ratios of the target analytes to be followed over time during the degradation process and thus will prove useful in determining the role of chirality in pesticide degradation and metabolite formation. 相似文献
88.
Aldaya MM Lors C Salmon S Ponge JF 《Environmental pollution (Barking, Essex : 1987)》2006,140(1):173-180
We measured the short-term (100 min) avoidance of a soil heavily polluted by hydrocarbons by the soil springtail Folsomia candida, at six rates of dilution in a control, unpolluted soil. We compared the results with those of long-term (40-day) population tests. Five strains were compared, of varying geographical and ecological origin. When pure, the polluted soil was lethal in the long-term and avoided in the short-term by all strains. Avoidance tests, but not population tests, were able to discriminate between strains. Avoidance thresholds differed among strains. Two ecological consequences of the results were discussed: (i) toxic compounds may kill soil animals or deprive them from food, resulting in death of populations, (ii) pollution spots can be locally deprived of fauna because of escape movements of soil animals. Advantages and limitations of the method have been listed, together with proposals for their wider use in soil ecology and ecotoxicology. 相似文献
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Jennifer Butters Robert E. Mann Christine M. Wickens Paul Boase 《Journal of Safety Research》2012,43(5-6):405-411
IntroductionDriving safety, impaired driving, and legislation to address these concerns remain important issues. It is imperative countermeasures be targeted toward the most appropriate groups. This paper explores the potential relationship between gender and driving attitudes toward safety issues and impaired-driving countermeasures.MethodThe data are from the 2007 Impaired Driving Survey commissioned by Transport Canada and Mothers Against Drunk Driving (MADD) Canada. The survey is a, stratified by region, telephone survey of 1,514 Canadian drivers 18 years of age and older with a valid driver's license who had driven within the past 30 days.ResultsThe findings illustrate a consistent impact of gender on these issues. Other variables were also identified as relevant factors although less consistently. Current findings suggest that strategies for building support for interventions, or for changing risk perception/concern for risky driving behaviors should be tailored by gender to maximize the potential for behavior change.ImpactThis information may assist program and policy developers through the identification of more or less receptive target groups. Future research directions are also presented. 相似文献
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