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S. Savas S. Eraslan S. Kantarci B. Karaman D. Acarsoz T. Tükel O. Cogulu F. Ozkinay S. Basaran K. Aydınlı M. Yuksel-Apak B. Kirdar 《黑龙江环境通报》2002,22(8):703-709
Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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Stabilimenta characteristics of the spider Argiope argentata on small islands: support of the predator-defense hypothesis 总被引:2,自引:0,他引:2
Summary A variety of orb-weaving spider species construct stabilimenta, patterned areas of dense silk, typically near the hub of the orb. The adaptive significance of this construction, along with associated behaviors such as shuttling and vibrating, is much debated. Arigiope argentata on small islands of the Bahamas frequently possess stabilimenta; we studied 397 individuals of this species to investigate possible functions of their stabilimenta, paying particular attention to predator-defense hypotheses. Cruciform stabilimenta were commoner in all size classes of spiders than discoid stabilimenta or no stabilimentum at all; discoid stabilimenta occurred mostly among intermediate size classes. Within the cruciform type, two-segmented stabilimenta were especially common among the very smallest spiders. Size of cruciform stabilimenta showed a curvilinear relation to spider body length; the fitted curve for total segment length had a maximum at an intermediate spider length. We argue that this relationship (among other phenomena) supports an apparently-larger-size hypothesis, whereby intermediate-sized spiders in particular appear much larger than they actually are. This could discourage predators, including those that are gape-limited such as lizards. We argue that stabilimenta in the smallest spiders, in which typically two segments are opposed, so that they more or less line up, serve as camouflage. When disturbed experimentally, spiders with discoid stabilimenta shuttle to the opposite side of the centrally located stabilimentum. This seems an obvious defensive behavior and occurs less frequently among spiders with cruciform stabilimenta. Large spiders vibrate more frequently than small ones, but no relation exists between vibration frequency and stabilimentum type. We argue (see also Tolbert 1975) that vibrating behavior, in which the spider can become a blur, renders its location more difficult to discern and the spider more difficult to grasp, rather than increasing apparent size.
Correspondence to: T.W. Schoener 相似文献
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A case study to identify major factors for lubricant mist exposure covered 15 metal machining sites. The investigation included milling, turning, drilling and grinding applications. Systematic analysis considered all relevant data concerning the machine tool, the lubricant and the suction plant. The efficiency of the implemented maintenance program at the installed filter systems was checked by concentration measurements immediately before and after service. All performed measurements of lubricant aerosol and vapor loads upstream and downstream of the installed filter systems were carried out according to VDI 2066 and BIA 3110, respectively. The selection criteria for the sites to be investigated, the systematic nature of the data acquisition and the procedure of the analysis are demonstrated in detail by performing comparisons between selected applications using emulsions and those employing straight oil for lubrication. The results of the study identify recirculation of ventilated air as the major source of workplace exposure to airborne lubricant emissions. More than 60% of the demisters investigated emit air at total lubricant loads (aerosols and vapor) above the limit of 20 mg m-3 at any time of operation; which also means immediately after service. A common reason for exceeded aerosol loads in recirculated air is e.g. the fact that the type of filter system applied is often not suitable for the separation problem. Loads of lubricant vapor are usually higher at the processes which use water emulsions as lubricant. In a quarter of the cases the limits were exceeded solely due to high vapor loads even immediately after service. The exposure can be reduced by replacing the lubricant, installation of a vapor separation plant or avoiding air recirculation. Maintenance time of the demisting system and aerosol separation efficiency of state-of-the-art demisting systems can be expanded by implementation of enhanced preliminary filter stages. This study confirms that appropriate service measures lower both aerosol emissions and lubricant vapor concentrations due to the reduction of exposed oil-wetted surfaces. The performed measurements show no significant relationship between loads of airborne lubricants and the type of machining process. Therefore, investigations at a much more detailed level have to be performed. However, the individual assessment of any workplace due to the complex situation remains essential. 相似文献
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Several theoretical, analytical, and institutional difficulties have impeded the development and application of the assessment of cumulative environmental impacts. Watershed development on coastal wetlands offers an ideal context for evaluating the land disturbance target approach to cumulative impact assessment. A model land use planning system involving a time series approach was developed for Elkhorn Slough in California. The approach included four major components: evaluation of erosion susceptibility, measurement of land disturbance, establishment of a land disturbance target, and a comparison of existing and target land disturbance values. Further research is needed to test the transferability of the approach in a wide range of coastal watersheds and to verify the applicability of the methods to other cumulative impact problems. 相似文献
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Thomas J. Stohlgren Dan Binkley Thomas T. Veblen William L. Baker 《Environmental monitoring and assessment》1995,36(1):1-25
Monitoring long-term change in forested landscapes is an intimidating challenge with considerable practical, methodological, and theoretical limitations. Current field approaches used to assess vegetation change at the plot-to-stand scales and nationwide forest monitoring programs may not be appropriate at landscape scales. We emphasize that few vegetation monitoring programs (and, thus, study design models) are designed to detect spatial and temporal trends at landscape scales. Based primarily on advice from many sources, and trial and error, we identify 14 attributes of a reliable long-term landscape monitoring program: malpractice insurance for landscape ecologists. The attributes are to: secure long-term funding and commitment; develop flexible goals; refine objectives; pay adequate attention to information management; take an experimental approach to sampling design; obtain peer-review and statistical review of research proposals and publications; avoid bias in selection of long-term plot locations; insure adequate spatial replication; insure adequate temporal replication; synthesize retrospective, experimental, and related studies; blend theoretical and empirical models with the means to validate both; obtain periodic research program evaluation; integrate and synthesize with larger and smaller scale research, inventory, and monitoring programs; and develop an extensive outreach program. Using these 14 attributes as a guide, we describe one approach to assess the potential effect of global change on the vegetation of the Front Range of the Colorado Rockies. This self-evaluation helps identify strengthes and weaknesses in our program, and may serve the same role for other landscape ecologists in other programs. 相似文献