Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

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.     

Distribution of Zooplankton along the Longitudinal Profile of Two Disturbed Small Rivers of the Upper Volga Basin

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.     

Total quality practitioner. Improving environmental process

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.     

The Impact of Agriculture On Dissolved Nitrogen and Phosphorus Cycling in Temperate Ecosystems

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.     

Multicriteria Group Decision-making Model for Environmental Conflict Analysis in the Cape Region,Mexico

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.