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.     

Zinc processing in the USA : An analysis of a declining industry

The purpose of this paper is to analyse the recent behaviour of the US zinc processing industry and the impact of US government policies on it. The first section of the paper is a discussion on the basic structure and conditions of the US zinc processing industry since 1950 and how they have changed. The discussion contains a general presentation of the US zinc market, a detailed look at the behaviour of individual primary zinc processing plants in the USA, Canada, Japan and Western Europe and an analysis of US government policies and their impacts on the US zinc industry. The second section of the paper is a discussion of the factors that have contributed to the decline in US zinc processing capacity and the type of government policy that should be followed in response.     

Development of a test method against hot alkaline chemical splashes.

High temperature alkaline chemical liquids have caused injuries and hazardous situations in Finnish pulp manufacturing mills. There are no requirements and/or test method standards concerning protection against high temperature alkaline chemical splashes. This paper describes the test method development process to test and identify materials appropriate for hot liquid chemical hazard protection. In the first phase, the liquid was spilled through a stainless steel funnel and the protection performance was evaluated using a polyvinyl chloride (PVC) film under the test material. After several tentative improvements, a graphite crucible was used for heating and spilling the chemical, and a copper-coated K-type thermometer with 4 independent measuring areas was designed to measure the temperature under the material samples. The thermometer was designed to respond quickly so that peak temperatures could be measured. The main problem was to keep the spilled amount of chemical constant, which unfortunately resulted in significant variability in data.     

Effects of bed materials on the performance of an anaerobic sequencing batch biofilm reactor treating domestic sewage

The objective of this study was to determine the best performance of an anaerobic sequencing batch biofilm reactor (AnSBBR) based on the use of four different bed materials as support for biomass immobilization. The bed materials utilized were polyurethane foam (PU), vegetal carbon (VC), synthetic pumice (SP), and recycled low-density polyethylene (PE). The AnSBBR, with a total volume of 7.2L, was operated in 8-h batch cycles over 10 months, and fed with domestic sewage with an average influent chemical oxygen demand (COD) of 358+/-110mg/L. The average effluent COD values were 121+/-31, 208+/-54, 233+/-52, and 227+/-51mg/L, for PU, VC, SP, and PE, respectively. A modified first-order kinetic model was adjusted to temporal profiles of COD during a batch cycle, and the apparent kinetic constants were 0.52+/-0.05, 0.37+/-0.05, 0.80+/-0.04, and 0.30+/-0.02h(-1) for PU, VC, SP, and PE, respectively. Specific substrate utilization rates of 1.08, 0.11, and 0.86mg COD/mgVS day were obtained for PU, VC, and PE, respectively. Although SP yielded the highest kinetic coefficient, PU was considered the best support, since SP presented loss of chemical constituents during the reactor's operational phase. In addition, findings on the microbial community were associated with the reactor's performance data. Although PE did not show a satisfactory performance, an interesting microbial diversity was found on its surface. Based on the morphology and denaturing gradient gel electrophoresis (DGGE) results, PE showed the best capacity for promoting the attachment of methanogenic organisms, and is therefore a material that merits further analysis. PU was considered the most suitable material showing the best performance in terms of efficiency of solids and COD removal.     

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.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.