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41.
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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
43.
河豚毒素检测技术研究进展 总被引:2,自引:0,他引:2
对检测河豚毒素的主要方法包括生物检测方法、理化检测方法、免疫学方法、传感器方法进行了介绍,并对目前检测方法的优缺点进行比较分析。小鼠测定法是河豚毒素检测的标准方法;理化检测法方法准确,但是对设备要求高,前处理严格;免疫学方法费用较高;传感器方法是新方法,还有待进一步规范。各种检测方法都有其优缺点,河豚毒素检测时应根据要求选择方法。 相似文献
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澳门城市垃圾焚烧底灰的重金属淋溶及其遗传毒性评价 总被引:2,自引:0,他引:2
应用美国国家环境保护局推荐的毒性特性溶出程序(toxicitycharacteristicleachingprocedure,TCLP),以及ICP-MS和ICP-AES技术研究了澳门城市垃圾焚烧底灰中重金属的淋溶,并结合蚕豆根尖微核试验评价了其潜在的生态与健康风险.结果显示,该底灰淋溶出来的重金属元素:铝(Al)、锰(Mn)、钴(Co)和汞(Hg)的浓度低于0.01mg·L-1,铁(Fe)、铜(Cu)和钼(Mo)的浓度低于0.1mg·L-1,而铬(Cr)、锌(Zn)、硒(Se)、锶(Sr)、钡(Ba)和铯(Cs)的浓度在0.11mg·L-1 ̄2.19mg·L-1之间.需要注意的是淋溶液中铅(Pb)的浓度异常高,最高可达19.06mg·L-1,超过了美国相关标准的上限(5mg·L-1);对比不同条件下底灰中重金属的淋溶情况,表明溶解作用和淋溶液的pH值是影响其淋溶的2个重要因素.蚕豆根尖微核试验显示各淋溶液处理组根尖细胞微核率明显升高,与阴性对照组相比具有显著性差异(p<0.05),表明各淋溶液具有遗传毒性;随着淋溶液中重金属浓度的增加,蚕豆根尖细胞所表现出来的毒性效应增强,表明重金属是淋溶液具有遗传毒性的重要原因. 相似文献
46.
Wong MY Sauser KR Chung KT Wong TY Liu JK 《Environmental monitoring and assessment》2001,67(3):361-378
The green alga Selenastrum capricornutum expresses a uniqueascorbate peroxidase, that responds to copper and lead. Attemptswere made to test if this peroxidase could be used to monitor thelevels of copper and lead in natural waters. When S.capricornutum was exposed to a stormwater sample, the specificactivity of the peroxidase in the cell extract was commensuratewith the combined copper and lead contents in the sample. Theperoxidase responses were also correlated with the 96 hr biomasstoxicity assay of S. capricornutum. However, unlike thebiomass toxicity assay, the peroxidase activity was not affectedby the anions in the samples. The use of this peroxidase can beused as a marker for testing heavy metal toxicity in the water. 相似文献
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Oxidative stress and DNA damages induced by cadmium accumulation 总被引:22,自引:0,他引:22
Experimental evidence shows that cadmium (Cd) could induce oxidative stress and then causes DNA damage in animal cells, however, whether such effect exists in plants is still unclear. In the present study, Vicia faba plants was exposed to 5 and 10 mg/L Cd for 4 d to investigate the distribution of Cd in plant, the metal effects on the cell lipids, antioxidative enzymes and DNA damages in leaves. Cd induced an increase in Cd concentrations in plants. An enhanced level of lipid peroxidation in leaves and an enhanced concentration of H2O2 in root tissues suggested that Cd caused oxidative stress in Vicia faba. Compared with control, Cd-induced enhancement in superoxide dismutase activity was significant at 5 mg/L than at 10 mg/kg in leaves, by contrast, catalase and peroxidaseactivities were significantly suppressed by Cd addition. DNA damage was detected by neutral/neutral, alkaline/neutral and alkaline/alkaline Comet assay. Increased levels of DNA damages induced by Cd occurred with reference to oxidative stress in leaves, therefore, oxidative stress induced by Cd accumulation in plants contributed to DNA damages and was possibly an important mechanism of Cd-phytotoxicity in Vicia faba plants. 相似文献
49.
含铅,无铅汽油车尾气排出物遗传毒性比较 总被引:3,自引:0,他引:3
利用台架试验模拟汽车行驶工况,收集了发动机使用无铅汽油,含铅汽油燃烧后的尾气颗粒物,对其中吸附的有机物进行了提取,并以Ames试验,中国仓鼠肺细胞体外微核实验等方法,从基因,染色体水平检测了两种颗粒提取的遗传毒性。 相似文献
50.
Xi Haiyan Cai Qiang He Miao Shi Hanchang 《Frontiers of Environmental Science & Engineering in China》2007,1(3):381-384
This research describes a fast detection method on the basis of enzyme-linked immunosorbent assay (ELISA) for Escherichia coli in drainage of wastewater treatment plants. Optimized conditions such as the reaction format (sandwich or direct), the concentrations
of diluted horseradish peroxidase (HRP)-E. coli conjugate, and anti-HPR antibody and pretreatment of E. coli were studied. Those results showed that the linear range of detection for E. coli was 10 cfu/mL-6 × 104 cfu/mL. Compared with conventional methods, it is a convenient and sensitive detection method with low cost.
Translated from Environmental Science, 2005, 26(5): 128–131 [译自: 环境科学] 相似文献