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71.
The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
72.
自制深井曝气设备处理屠宰废水试验研究 总被引:2,自引:0,他引:2
通过自制规模25L深井曝光设备屠中宰废水进行处理,试验结果表明,在最佳操作条件下,曝气8h,COD平均去除率可达82.835,BOD平均去除率可达81.09%,悬浮少平均去除率可达85.20%,动植物油平均去除率可达94.54%。出水水质可以达到肉类加工不工业水污染物排放标准GB13457-92的三组标准。而处理费用经估算仅为0.15/m^3,是一种高效低耗处理屠宰废水的较 相似文献
73.
Analysis of traffic accident frequency represents an important subject of research of many authors. From the aspect of temporal analysis of traffic accident occurrence, two approaches have been singled out in previous practice: the collective (analyzes traffic accidents over a longer period of time) and individual (analyzes traffic accidents in real time). The paper shows that the system reliability theory, with certain adjustments, can be largely used to analyze traffic accident frequency based on the individual approach. A certain similarity has been observed between the system reliability theory and the traffic safety theory, and conceptual adjustment of equivalent terms and states has been performed based on this. A model has been successfully tested on the basis of which, for the road and sections, we have determined the traffic accident frequency, the probability of the occurrence of a certain number of traffic accidents and the mean time between two consecutive traffic accidents. 相似文献
74.
Monika Tomkiel Małgorzata Baćmaga Agata Borowik Jan Kucharski 《Journal of environmental science and health. Part. B》2013,48(10):832-842
AbstractThis study was aimed to evaluate the effect of a mixture of flufenacet?+?isoxaflutole on counts of microorganisms, ecophysiological diversity index (EP), colony development index (CD) and on the enzymatic activity of soil and maize growth. The experiment was conducted with sandy clay, to which the tested herbicide was administered in doses of: 0.25, 5.0, 10, 20, 40, 80 and 160?mg/kg. Soil without the addition of the mixture served as the control. Results demonstrated that the tested mixture contributed to a decrease in numbers of Azotobacter, organotrophic bacteria, actinobacteria and fungi. The negative effect of the herbicide could also be noticed in the case of the enzymatic activity of soil. Soil contamination contributed to suppressed activities of dehydrogenases, catalase, urease, alkaline phosphatase and arylsulfatase. In turn, the initial increase in the activity of β-glucosidase was followed by its decline observed with time. The flufenacet?+?isoxaflutole mixture affected also maize plant growth, reducing maize dry matter yield when used at doses from 5.0 to 160?mg/kg. In summary, it may be concluded that mixture evokes a negative effect on the microbiological and biochemical activity of soil and that their excess in the soil leads to plant decay as at the seeding stage. 相似文献
75.
Vickerman DB Shannon MC Bañuelos GS Grieve CM Trumble JT 《Environmental pollution (Barking, Essex : 1987)》2002,120(2):463-473
Thirty Atriplex lines were examined for potential habitat improvement and phytoremediation of selenium (Se) contaminated sites. Studies were conducted to determine the biomass production, Se accumulation, and resistance of each line to the beet armyworm, Spodoptera exigua, an agriculturally important insect. Plants were tested using three salinity treatments: (1) control, no Se; (2) NaCl and CaCl2 salts and 1 mg l(-1) Se (12.7 microM) added as sodium selenate; and (3) iso-osmotic to treatment 2 containing high concentrations of sulfate and I mg l(-1) Se added as sodium selenate. Insect bioassays measured survival, growth, and development. Atriplex patula. A. spongiosa 415862, A. hortensis, A. hortensis 379088 and A. hortensis 379092 were among the top biomass producers and Se accumulators, yet they exhibited significantly reduced insect growth, development, and survival. High background sulfate strongly reduced Se accumulation, suggesting that phytoremediation potential is greatest in saline areas having low to moderate sulfate levels. However, these lines grew well in high salinity soils, indicating possible use as a self-seeding cover crop to improve habitat. All plant lines grown in control and high sulfate salinity treatments are acceptable oviposition sites for S. exigua, indicating that these plants would help reduce populations of this key agricultural pest. 相似文献
76.
A Penicillium camemberti strain isolated in our laboratory has been studied for its ability to degrade chlorinated pulping wastes, presumably containing a variety of chlorinated polyphenols. In batch tests, the highest removals (76% AOX, 61% color and 65% TOC) were obtained with 0.2 g/l feed acetate concentration. The tendency of the fungus to dechlorinate bleachery effluents better under non-shaking conditions and to attach onto surfaces suggested the use of immobilized cells rather than freely suspended ones in further exploitation of the process. An upflow glass wool packed column reactor established with this fungus could be operated for nearly two years in the laboratory. At best around 70% AOX could be removed from chlorinated pulping wastes in 7.3 h of contact with no aeration and with a minimal amount of carbon supplement (0.2 g/l). Finally, an asymptotic mathematical formula for determining Michaelis-Menten kinetic rates has been derived. The kinetic rates K(m) (the Michaelis constant or saturation constant for the substrate) and V(m) (the product of maximum rate for the enzymatic reaction and biomass concentration) were then calculated as 126.386 mg/l and 2.83017 mg/lh, respectively. 相似文献
77.
78.
79.
Dr. S. Artan N. Başaran H. Hassa S. Özalp T. Şener B. S. Şayli C. Cengiz M. Özdemi̊ T. Durak I. Dölen T. Özgünen M. Tuna 《黑龙江环境通报》1995,15(12):1135-1142
In order to determine the incidence of confined placental mosaicism (CPM) in term placentae and to show the presence of specific sites and the effect on fetal development, 125 placentae from uneventful pregnancies were analysed by cytogenetic methods. The incidence was at least 4.8 per cent and there were no specific sites on the placenta. Although the number of cases is still too small, we found CPM to be associated with intrauterine growth retardation in six cases. 相似文献
80.
Permethrin, a synthetic pyrethroid pesticide and potential toxic pollutant contaminating aquatic ecosystems, was investigated in the present study for acute toxicity. Guppy fish (Poecilia reticulata) were selected for the bioassay experiments. The experiments were repeated 3 times and the 48-h LC(50) was determined for the guppies. The static test method of acute toxicity test was used. Water temperature was regulated at 20+/-1 degrees C. In addition, behavioral changes at each permethrin concentration were observed for the individual fish. Data obtained from the permethrin acute toxicity tests were evaluated using the probit analysis statistical method. The 48-h LC(50) value for guppy was estimated as 245.7 microg/l. Values in the range of 0.05-97.0 microg/l have been reported for various other fish species. 相似文献