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101.
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
102.
P.P. Povinec H. Bokuniewicz W.C. Burnett J. Cable M. Charette J.-F. Comanducci E.A. Kontar W.S. Moore J.A. Oberdorfer J. de Oliveira R. Peterson T. Stieglitz M. Taniguchi 《Journal of environmental radioactivity》2008,99(10):1596
Results of groundwater and seawater analyses for radioactive (3H, 222Rn, 223Ra, 224Ra, 226Ra, and 228Ra) and stable (D and 18O) isotopes are presented together with in situ spatial mapping and time series 222Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d−1 to 360 cm d−1; the unit represents cm3/cm2/day), as well as during a few hours (from 0 cm d−1 to 110 cm d−1), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous 222Rn measurements is 17 ± 10 cm d−1. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 103 m3 d−1 per km of the coast. The isotopic composition (δD and δ18O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of 222Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region. 相似文献
103.
Comparison between the accumulation capacity of four lichen species transplanted to a urban site 总被引:1,自引:0,他引:1
Bergamaschi L Rizzio E Giaveri G Loppi S Gallorini M 《Environmental pollution (Barking, Essex : 1987)》2007,148(2):468-476
The capacity to accumulate trace elements from the atmosphere of the lichens Hypogymnia physodes, Parmelia sulcata, Pseudevernia furfuracea and Usnea gr. hirta transplanted to an urban site of N Italy was compared. Twenty-nine elements (Al, As, Br, Ca, Cd, Ce, Cl, Co, Cr, Cs, Cu, Fe, Hg, I, K, La, Mg, Mn, Ni, Pb, Rb, Sb, Sc, Se, Sm, Th, Ti, V, Zn) were analyzed by Instrumental Neutron Activation Analysis (INAA) and Electro-Thermal Atomic Absorption Spectroscopy (ET-AAS). The ratio between the concentrations of each element in exposed samples to that of control samples (exposed-to-control ratio and EC ratio) was used to investigate the accumulation rates of lichen thalli. The results showed that in general elements did not exhibit well defined trends, but rather showed fluctuations, and indicated that H. physodes, P. furfuracea and U. gr. hirta have a similar accumulation capacity, while that of P. sulcata is lower. 相似文献
104.
Factors affecting river health and its assessment over broad geographic ranges: the Western Australian experience 总被引:1,自引:0,他引:1
Halse SA Scanlon MD Cocking JS Smith MJ Kay WR 《Environmental monitoring and assessment》2007,134(1-3):161-175
AusRivAS is an Australia-wide program that measures river condition using predictive models to compare the macroinvertebrate
families occurring at a river site with those expected if the site were in natural condition. Results of assessment of 685
sites across all major rivers in Western Australia are presented. Most rivers were in relatively natural condition in the
northern half of the state where the human population is low and pastoralism is the major land use. In the south, where the
human population is higher and agriculture is more intensive, rivers were mostly more disturbed. AusRivAS assessment produced
some erroneous results in rivers of the south-west cropping zone because of the lack of appropriate reference site groups
and biased distribution of sampling sites. Collecting low numbers of animals from many forested streams, because of low stream
productivity and samples that were difficult to sort, also affected assessments. Overall, however, AusRivAs assessment identified
catchment processes that were inimical to river health. These processes included salinisation, high nutrient and organic loads,
erosion and loss of riparian vegetation. River regulation, channel modification and fire were also associated with river degradation.
As is the case with other assessment methods, one-off sampling at individual sites using AusRivAS may be misleading. Seasonal
drought, in particular, may make it difficult to relate conditions at the time of sampling to longer-term river health. AusRivAS
has shown river condition in Western Australia is not markedly different from other parts of Australia which, as a whole,
lacks the substantial segments of severely degraded river systems reported in England. 相似文献
105.
Changes in soil chemical and microbiological properties during 4 years of application of various organic residues 总被引:6,自引:0,他引:6
A 4-year field trial was established in eastern Sweden to evaluate the effects of organic waste on soil chemical and microbiological variables. A simple crop rotation with barley and oats was treated with either compost from household waste, biogas residue from household waste, anaerobically treated sewage sludge, pig manure, cow manure or mineral fertilizer. All fertilizers were amended in rates corresponding to 100kgNha(-1)year(-1). The effects of the different types of organic waste were evaluated by subjecting soil samples, taken each autumn 4 weeks after harvest, to an extensive set of soil chemical (pH, Org-C, Tot-N, Tot-P, Tot-S, P-AL, P-Olsen, K-AL, and some metals) and microbiological (B-resp, SIR, microSIR active and dormant microorganisms, PDA, microPDA, PAO, Alk-P and N-min) analyses. Results show that compost increased pH, and that compost as well as sewage sludge increased plant available phosphorus; however, the chemical analysis showed few clear trends over the 4 years and few clear relations to plant yield or soil quality. Biogas residues increased substrate induced respiration (SIR) and, compared to the untreated control amendment of biogas residues as well as compost, led to a higher proportion of active microorganisms. In addition, biogas residues increased potential ammonia oxidation rate (PAO), nitrogen mineralization capacity (N-min) as well as the specific growth rate constant of denitrifiers (microPDA). Despite rather large concentrations of heavy metals in some of the waste products, no negative effects could be seen on either chemical or microbiological soil properties. Changes in soil microbial properties appeared to occur more rapidly than most chemical properties. This suggests that soil microbial processes can function as more sensitive indicators of short-term changes in soil properties due to amendment of organic wastes. 相似文献
106.
107.
Pilkington MG Caporn SJ Carroll JA Cresswell N Lee JA Emmett BA Bagchi R 《Environmental pollution (Barking, Essex : 1987)》2007,148(1):191-200
On an upland moor dominated by pioneer Calluna vulgaris and with an understorey of mosses and lichens, experimental plots were treated with factorial combinations of nitrogen (N) at +0 and +20kg Nha(-1)yr(-1), and phosphorus (P) at +0 and +5kg Pha(-1)yr(-1). Over the 4-year duration of the experiment, the cover of the Calluna canopy increased in density over time as part of normal phenological development. Moss cover increased initially in response to N addition but then remained static; increases in cover in response to P addition became stronger over time, eventually causing reductions in the cover of the dominant Calluna canopy. Lichen cover virtually disappeared within 4 years in plots receiving +20kg Nha(-1)yr(-1) and also in separate plots receiving +10kg Nha(-1)yr(-1), but this effect was reversed by the addition of P. 相似文献
108.
Kalbande DM Dhadse SN Chaudhari PR Wate SR 《Environmental monitoring and assessment》2008,138(1-3):233-238
Abstract Industrial development and consumption of petroleum products leads to increase air pollution levels especially in
urban and industrial areas. Heavy metal components associated with air pollutants have far reaching effects with respect to
economic and ecological importance of pollens. The pollens are male reproductive organs of the plant and travel through air
from flower to flower for pollination purpose. During this period they are exposed to air pollutants. Present investigation
thus pertains to study of effect of air pollutants on pollens especially biosorption and bioaccumulation of heavy metals.
The pollens of three commonly occurring plants namely Cassia siamea, Cyperus rotundus, Kigelia pinnata have been studied from the NH-6 of Nagpur city, India. The pollens exposed to polluted air showed the presence of higher
concentrations of Ca, Al and Fe as compared to unexposed pollens. Higher concentration of these metals was observed in Cyperus rotundus followed by Cassia siamea and Kigelia pinnata. These results indicate that pollens act as good indicator of air pollution giving results in short time of exposure of 5–10 h.
Apart from this, it is also reported that some of these metals play crucial role in the metabolic activity in pollens for
example Calcium is necessary for growth of pollen tube and other metabolic activities in pollens. The presence of these metals
in pollens may also enhance the allergenicity of the pollens. Similarly accumulation of heavy metals may also deteriorate
the quality of pollen for their economical use. The viability of pollen is also affected by these pollutants in sensitive
species leading to impairment of their fertility. 相似文献
109.
A directional passive air sampler for monitoring polycyclic aromatic hydrocarbons (PAHs) in air mass
Tao S Liu YN Lang C Wang WT Yuan HS Zhang DY Qiu WX Liu JM Liu ZG Liu SZ Yi R Ji M Liu XX 《Environmental pollution (Barking, Essex : 1987)》2008,156(2):435-441
A passive air sampler was developed for collecting polycyclic aromatic hydrocarbons (PAHs) in air mass from various directions. The airflow velocity within the sampler was assessed for its responses to ambient wind speed and direction. The sampler was examined for trapped particles, evaluated quantitatively for influence of airflow velocity and temperature on PAH uptake, examined for PAH uptake kinetics, calibrated against active sampling, and finally tested in the field. The airflow volume passing the sampler was linearly proportional to ambient wind speed and sensitive to wind direction. The uptake rate for an individual PAH was a function of airflow velocity, temperature and the octanol-air partitioning coefficient of the PAH. For all PAHs with more than two rings, the passive sampler operated in a linear uptake phase for three weeks. Different PAH concentrations were obtained in air masses from different directions in the field test. 相似文献
110.
Adamo P Crisafulli P Giordano S Minganti V Modenesi P Monaci F Pittao E Tretiach M Bargagli R 《Environmental pollution (Barking, Essex : 1987)》2007,146(2):392-399
Lobes of the lichen Pseudevernia furfuracea (L.) Zopf and shoots of the moss Hypnum cupressiforme Hedw. were subjected to different treatments (water washing, oven drying, HNO3 washing, NH4-oxalate extraction) to assess the influence of vitality on accumulation efficiency, during a 6-week exposure in bags in two Italian cities, Trieste and Naples. No trend emerged between treatments, in terms of accumulation ability, for major and trace elements. Only water-washed lichens showed an increased C and N content after exposure in both cities. Element concentrations generally reached higher values in mosses than in lichens, especially for Al, Fe, and Zn (both cities), and for Cu, Mg and Na (Naples). Surface development strongly influenced accumulation capacity of the biomonitors. Quartzose and cation exchange filters revealed, on a weight basis, a poor performance. In urban environments, surface interception of atmospheric particulate seems to play a major role in accumulation, irrespective of organism vitality. 相似文献