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51.
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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Xiang Laisheng Guo Yajun Li Zhanfang . School of Management Northeastern University Shenyang Liaoning China . Development Research Center of Liaoning People’s Government Shenyang Liaoning China 《中国人口.资源与环境(英文版)》2007,5(2):49-52
In the high technology industry, small and medium sized technology enterprises (SMSTEs) play a pivotal role in advancing the whole industry. To achieve sustainable development, they need to extend their scope of business activities beyond a national view and exploit international market actively to meet international competitions that increase quickly in the form of allocating resources within the scope of the world. However, the SMSTEs are also facing risks associated with themselves during the process of exploiting international market owing to their own restrictions, so what they should do is to consider risk evaluations in exploiting the international market. 相似文献
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A. V. Krylov 《Russian Journal of Ecology》2004,35(5):316-323
The abundance and trophic structure of zooplankton along the longitudinal profile of two typical rivers in the Yaroslavl sector of the Volga region are determined by anthropogenic and zoogenic factors. The distribution of zooplankton under the influence of these factors is described by the concept of patch dynamics. The abundance of zooplankton reaches the highest values in the ameliorated upper reaches of rivers and in beaver ponds. 相似文献
56.
57.
Quick fix. Putting out firs. Do it over. Fix it again. Bottlenecks. Come back to it later. Out of stock. Back order. Not what we ordered. Is that the best you can do? It's the contractor's fault. Not within specs. Defective. Nobody's perfect. Lost in the system. Over budget. Delayed. Late penalities. Fines. 相似文献
58.
李宏规 《中国人口.资源与环境》1992,(1)
人口是人口、资源与环境巨系统中最根本的因素。人口增长过快,将直接加大对资源与环境的压力,并影响人口素质的提高。所以,长期坚持实行计划生育这一基本国策是实现人口、资源、环境协调发展的重要保证。为此,必须要统一认识,增强控制人口的危机感和责任感;实施人口和计划生育目标管理责任制;扎实稳妥地做好农村计划生育工作;齐抓共管,保证人口计划的完成。 相似文献
59.
A. L. Heathwaite 《Chemistry and Ecology》1993,8(3):217-231
Although most research has focussed on inorganic nutrient forms of nitrate (NO-3) and phosphorus (PO34) in runoff and receiving waters, nitrogen loss from agricultural land can also occur in organic and ammonium-nitrogen form; phosphorus losses, although often dominated by particulate transport, may occur in soluble organic and inorganic form. Furthermore, fluxes between different species may take place during transport from the land to the stream and as a result of in-stream, in-river or in-lake transformations. Knowledge of the spatial and temporal variation in all nitrogen species and phosphorus fractions in a drainage basin is therefore essential if the wider environmental significance of elevated nutrient concentrations in natural waters are to be assessed. This paper reviews recent work on N and P losses from agricultural land and presents some results from two intensive agricultural catchments: Slapton, Devon and the river Windrush catchment in the Cotswolds. 相似文献
60.
J. Malczewski R. Moreno-Sanchez L.A. Bojorquez-Tapia E. Ongay-Delhumeau 《Journal of Environmental Planning and Management》1997,40(3):349-374
This paper is concerned with developing a model for group decision making under multiple criteria. The multiple criteria group decision making (MCGDM)problem involves a set of feasible land use patterns that are evaluated on the basis of multiple, conflicting and noncommensurate criteria by a group of individuals. The model integrates the Analytic Hierarchy Process (AHP) and an integer mathematical programming method. The former provides a tool for structuring the decision problem and determining land suitability for different socio-economicactivities (the uses of land), the latter is used to identify the land use pattern that maximizes consensus among interest groups. The model is used to analyze environmental conflict over land resource allocation in the Cape Region of Mexico. 相似文献