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91.
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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Abstract: The sustainability of seed extraction from natural populations has been questioned recently. Increased recruitment failure under intense seed harvesting suggests that seed extraction intensifies source limitation. Nevertheless, areas where more seeds are collected tend to also have more intense hunting of seed-dispersing animals. We studied whether such hunting, by limiting disperser activity, could cause quantitative dispersal limitation, especially for large crops and for crops in years of high seed abundance. In each of four Carapa procera (Meliaceae) populations in French Guiana and Surinam, two with hunting and two without, we compared seed fate for individual trees varying in crop size in years of high and low population-level seed abundance. Carapa seeds are a nontimber forest product and depend on dispersal by scatter-hoarding rodents for survival and seedling establishment. Hunting negatively affected the proportion of seeds dispersed and caused greater numbers of seeds to germinate or be infested by moths below parent trees, where they would likely die. Hunting of seed-dispersing animals disproportionally affected large seed crops, but we found no additional effect of population-level seed abundance on dispersal rates. Consistently lower rates of seed dispersal, especially for large seed crops, may translate to lower levels of seedling recruitment under hunting. Our results therefore suggest that the subsistence hunting that usually accompanies seed collection is at the cost of seed dispersal and may contribute to recruitment failure of these nontimber forest products. Seed extraction from natural populations may affect seedling recruitment less if accompanied by measures adequately incorporating and protecting seed dispersers. 相似文献
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Bunge Michael Khknen Mika A. Rmisch Winfried Opel Matthias Vogler Susanne Walkow Fred Salkinoja-Salonen Mirja Lechner Ute 《Environmental science and pollution research international》2007,14(1):3-10
Background, Aims and Scope Sediments of the Spittelwasser creek are highly polluted with organic compounds and heavy metals due to the discharge of untreated
waste waters from the industrial region of Bitterfeld-Wolfen, Germany over the course of more than one century. However, relatively
few data have been published about the chloroorganic contamination of the sediment. This paper reports on the content of different
(chloro)organic compounds with special emphasis on polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/F), and chlorobenzenes. Existing concepts for the remediation of Spittelwasser sediment include
the investigation of natural attenuation processes, which largely depend on the presence of an intact microbial food web.
In order to gain more insight in terms of biological activity, we analyzed the capacity of sediment microflora to degrade
organic matter by measuring the activities of extracellular hydrolytic enzymes involved in the biogeochemical cycling of carbon,
nitrogen, phosphorus and sulfur. Furthermore, the detection of physiologically active bacteria in the sediment, particularly
of those known for their capability to reductively dehalogenate organochlorine compounds, illustrates the potential for intrinsic
bioremediation processes.
Methods PCDD/F and chlorobenzenes were analyzed by gas chromatography(GC)/mass spectrometry and GC/flame ionization detection, respectively.
The activities of hydrolytic enzymes were determined from freshly sampled sediment layers using 4-methylumbelliferyl (MUF)
or 7-amino-4-methylcoumarin-conjugated model compounds and kinetic fluorescence measurements. Physiologically active bacteria
from different sediment layers were microscopically visualized by fluorescence in situ hybridization (FISH). Specific bacteria were identified by 16S rRNA gene amplification and sequencing.
Results and Discussion The PCDD/F congener profile was dominated by dibenzofurans. In addition, the presence of specific tetra and pentachlorinated
dibenzofurans supported the assumption that extensive magnesium production was one possible source for the high contamination.
A range of other chloroorganic compounds, including several isomers of chlorobenzenes, hexachlorocyclohexane and 1,1,1-trichloro-2,2-bis
(p-chloro-phenyl)ethane (DDT), was present in the sediment. Activities of extracellular hydrolytic enzymes showed a strong
decrease in those sediment layers that were characterized by high contents of absorbable organic halogen (AOX), indicating
disturbed organic matter decay. Interestingly, an abnormal increase of cellulolytic enzyme activities below the organochlorine-rich
layers was observed, possibly caused by residual cellulose from discharges of sulfite pulping wastes. FISH revealed physiologically
active bacteria in most sediment layers from the surface down to the depth of about 60 cm, including members of Desulfitobacterium (D.) and Sulfurospirillum. The presence of D. dehalogenans was confirmed by its partial 16S rRNA gene sequence.
Conclusions Results of chemical sediment analyses demonstrated high loads of organochlorine compounds, particularly of PCDD/F. Several
years after stopping the waste water discharge to Spittelwasser creek, this sediment remains a main source for pollution of
the downstream river system by way of the ongoing mobilization of sediment during high floods. As indicated by our enzyme
activity measurements, the decomposition potential for organic matter is low in organochlorine-rich sediment layers. In contrast,
the comparably higher enzyme activities in less organochlorine-polluted sediment layers as well as the presence of physiologically
active bacteria suggest a considerable potential for natural attenuation.
Recommendations and Perspectives From our data we strongly recommend to explore the degradative capacity of sediment microorganisms and the limits for in situ activity towards specific sediment pollutants in more detail. This will give a sound basis for the integration of bioremediation
approaches into general concepts to reduce the risk that permanently radiates from this highly contaminated sediment.
Submission Editor: Dr. Henner Hollert (Henner.Hollert@urz.uniheidelberg.de) 相似文献
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Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones. 相似文献
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