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Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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环境监测中的新工具--酶免疫检测技术 总被引:6,自引:1,他引:6
酶免疫检测技术,是根据抗原抗体反应具有高度的特异性,将酶标记物的抗体作为标准试剂来鉴定未知的抗原。EIA技术是环境污染物筛选试验的良好工具,其与气相色谱。高效液相色谱结合,能极大地提高环境监测能力。将酶联免疫吸附检测试剂盒在环境监测中的应用结果,与GC,HPLC等传统分析方法相比,具有良好的相关性。 相似文献
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A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315+ cells and their use for prenatal diagnosis of β-thalassaemia. H315 + cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible. 相似文献
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K.M.S. Sundaram A. Sundaram L. Sloane 《Journal of environmental science and health. Part. B》2013,48(6):1341-1362
Abstract The effect of two tracer dyes [Erio Acid Red (EAR) and Acid Black 48 (AB‐48)] on initial deposits and persistence of Bacillus thuringiensis subsp. kurstaki (Btk) toxin (delta‐endotoxin) was studied after spraying two commercial formulations, Foray® 48B and Foray® 76B, over potted white spruce [Picea glauca (Moench) Voss] seedlings, at a dosage rate of 30 billion international units (BIU) per ha. Spray was applied using a spinning disc atomizer calibrated to deliver droplet sizes similar to those utilized in ultra‐low‐volume (ULV) treatments in operational insect control programs. The sprayed seedlings were left outdoors at the Sault Ste. Marie laboratory for 18 days under natural conditions of sunlight, wind and rainfall. Initial deposits and persistence of delta‐endotoxin protein in spruce foliage were determined by immunoassay [enzyme linked immunosorbent assay (ELISA)] quantification of the delta‐endotoxin. The total protein (inactive plus active) and delta‐endotoxin (active protein) concentrations in the two formulations were determined by a gravimetric procedure and by ELISA respectively. The initial deposit levels of the toxin on foliage were not markedly affected by the addition of either of the two tracer dyes, and showed only a narrow range of 1521 to 1625 ng/g foliage (fresh weight) for Foray 48B, and 1789 to 2056 ng/g for Foray 76B. However, the persistence of the toxin was significantly influenced by the presence of the dyes. The toxin persisted in foliage only for 7 d post‐spray When the EAR dye was added to Foray 48B, compared to 10 d when no dye was added. The average half‐life (DT50) of disappearance was 17.4 h for Foray 48B with EAR, and 20.9 h when no dye was present. In contrast, the situation was reversed in Foray 76B, since the duration of persistence was 10 d when EAR was added to Foray 76B, compared to 7 d when no dye was added. The average DT50 was 27.9 h for Foray 76B with EAR, and 22.2 h without the dye. Persistence was the longest (14 d) when the AB‐48 dye was added to Foray 76B, and the DT50 was 44.9 h. 相似文献
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THERON MORGAN‐BROWN SUSAN K. JACOBSON KENNETH WALD BRIAN CHILD 《Conservation biology》2010,24(2):563-572
Abstract: Scientific understanding of the role of development in conservation has been hindered by the quality of evaluations of integrated conservation and development projects. We used a quasi‐experimental design to quantitatively assess a conservation and development project involving commercial butterfly farming in the East Usambara Mountains of Tanzania. Using a survey of conservation attitudes, beliefs, knowledge, and behavior, we compared 150 butterfly farmers with a control group of 170 fellow community members. Due to the nonrandom assignment of individuals to the two groups, we used propensity‐score matching and weighting in our analyses to control for observed bias. Eighty percent of the farmers believed butterfly farming would be impossible if local forests were cleared, and butterfly farmers reported significantly more participation in forest conservation behaviors and were more likely to believe that conservation behaviors were effective. The two groups did not differ in terms of their general conservation attitudes, attitudes toward conservation officials, or knowledge of conservation‐friendly building techniques. The relationship between butterfly farming and conservation behavior was mediated by dependency on butterfly farming income. Assuming unobserved bias played a limited role, our findings suggest that participation in butterfly farming increased participation in conservation behaviors among project participants because farmers perceive a link between earnings from butterfly farming and forest conservation. 相似文献
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David Blodgett Emily Read Jessica Lucido Tad Slawecki Dwane Young 《Journal of the American Water Resources Association》2016,52(4):845-858
Improving access to data and fostering open exchange of water information is foundational to solving water resources issues. In this vein, the Department of the Interior's Assistant Secretary for Water and Science put forward the charge to undertake an Open Water Data Initiative (OWDI) that would prioritize and accelerate work toward better water data infrastructure. The goal of the OWDI is to build out the Open Water Web (OWW). We therefore considered the OWW in terms of four conceptual functions: water data cataloging, water data as a service, enriching water data, and community for water data. To describe the current state of the OWW and identify areas needing improvement, we conducted an analysis of existing systems using a standard model for describing distributed systems and their business requirements. Our analysis considered three OWDI‐focused use cases—flooding, drought, and contaminant transport—and then examined the landscape of other existing applications that support the Open Water Web. The analysis, which includes a discussion of observed successful practices of cataloging, serving, enriching, and building community around water resources data, demonstrates that we have made significant progress toward the needed infrastructure, although challenges remain. The further development of the OWW can be greatly informed by the interpretation and findings of our analysis. 相似文献
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Free radical production and oxidative stress are known to increase in liver during diabetes and may contribute to oxidative damage. In this study, the effect of oral feeding of Trigonella foenum-graecum seed powder (TSP) has been studied on blood glucose, membrane-linked ATPases, antioxidant enzymes, lipid peroxidation, lipofuscin content and membrane fluidity in livers of a diabetic rat. Diabetes was induced by administration of alloxan monohydrate. Hyperglycemia during diabetes has been shown to entail free radical generation, with a concomitant increase in lipid peroxidation and lipofuscin content, inhibition of membrane-linked ATPases, increased antioxidant enzyme activities and decreased membrane fluidity. TSP treatment reverses the changes to near normal levels thereby ameliorating the management of diabetic complications. 相似文献
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INTRODUCTION: The urban road traffic accident (RTA) risks for the city of Zagreb, Croatia, from 1999 through 2000 were analyzed with the aim of reducing the increasing injury incidence. METHOD: Simple and bivariate analysis using chi(2), odds ratio, and confidence interval of 95% was used to determine risks in three outcome groups: killed, severely, and mildly injured. RESULTS: There were 528 RTA victims consisting of 260 severely, 213 mildly injured, and 55 killed at the scene of an accident and during transportation. More fatal accidents occurred during night hours (OR=3.78; 95% CI, 2.08-6.85), on urban road links (OR=2.33; 95% CI, 1.30-4.19), and at exceeding speed limit (OR=2.56; 95% CI, 1.43-4.61). More people were injured than killed on urban junctions (OR=5.27; 95% CI, 2.21-12.57). The highest combined risk of dying or being severely injured was found in males, driving at excessive speed, on urban links, and during bad visibility (OR=16.15; 95% CI, 3.901-66.881). CONCLUSION: These results will influence the urban traffic police enforcement measures, which will change inappropriate behavior of drivers and protect the least experienced road users. 相似文献
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微囊藻毒素的酶联免疫法分析影响因素探讨 总被引:1,自引:0,他引:1
考察样品与抗微囊藻毒素(MC)-LR的单克隆抗体(单抗)加入间隔时间、温育温度、检测时间、pH、H2O2、Fe2+等不同因素对酶联免疫法(ELISA)测定MC-LR的影响。结果表明:(1)随着样品与单抗加入间隔时间延长,MC-LR测定值逐渐降低。(2)25、37℃下,MC-LR测定值几乎没有差别,测定结果与取用标准样品具有很好的一致性。(3)不同检测时间下,无论是低浓度还是高浓度标准样品,MC-LR测定值均有一定变化,虽然幅度均不大,但仍然建议终止反应后尽快比色。(4)当pH为7~9时,MC-LR测定值变化不大。(5)当H2O2摩尔浓度为0.1、1.0、10.0mmol/L时,均会对ELISA产生干扰。通过水浴去除H2O2后,H2O2初始摩尔浓度分别为0.1、1.0mmol/L时,MC-LR回收率分别达到87%及81%。(6)Fe2+对酶有显著的抑制作用,可通过沉淀过滤的方式消除干扰。 相似文献