BRCA1 mutation screening using restriction endonuclease fingerprinting-single-strand conformation polymorphism in an automated capillary electrophoresis system

Efficient mutation scanning techniques are needed for the rapid detection of novel disease-associated mutations and rare-sequence variants of putative importance. The large size of the breast cancer 1 gene (BRCA1) and the many mutations found throughout its entire coding sequence make screening for mutations in this gene particularly challenging. We have developed a method for screening exon 11 of the BRCA1 gene based on restriction enzyme digestion of fluorescence-labeled polymerase chain reaction (PCR) products followed by single-strand conformation polymorphism (SSCP) using an automated capillary electrophoresis system, denoted capillary restriction endonuclease fingerprinting (REF)-SSCP electrophoresis. Using this strategy on a control set of samples, we were able to detect 17 of 18 known sequence alterations. The method was then applied to screen 73 Norwegian females with family histories of breast and/or ovarian cancer. A total of 172 sequence alterations were detected, including substitutions, insertions, and deletions. One novel substitution of unknown function was identified. Sequencing of all samples negative in the capillary REF-SSCP system gave no additional mutations confirming the high sensitivity of the described methodology. Capillary REF-SSCP electrophoresis appeared as a technically convenient technique, requiring amplification of fewer PCR fragments than traditional SSCP. The novel strategy allows high-throughput mutation scanning without radioactive labeling and polyacrylamide gel electrophoresis (PAGE).     

Compensation effect in the hydrogenation/dehydrogenation kinetics of metal hydrides

The possible existence of a compensation effect, i.e. concurrent changes in activation energy and prefactor, is investigated for the hydrogenation and dehydrogenation kinetics of metal hydrides, by analyzing a series of reported kinetic studies on Mg and LaNi(5) based hydrides. For these systems, we find a clear linear relation between apparent prefactors and apparent activation energies, as obtained from an Arrhenius analysis, indicating the existence of a compensation effect. Large changes in apparent activation energies in the case of Mg based hydrides are rationalized in terms of a dependency of observed apparent activation energy on the degree of surface oxidation, i.e., a physical effect. On the other hand, we find the large concurrent changes in apparent prefactors to be a direct result of the Arrhenius analysis. Thus, we find the observed compensation effect to be an artifact of the data analysis rather than a physical phenomenon. In the case of LaNi(5) based hydrides, observed scatter in reported apparent activation energies is less pronounced supporting the general experience that LaNi(5) is less sensitive toward surface contamination.     

Synthesis and fluorescence properties of DMCX+—a stable oxygen-bridged [4]helicenium dye

A one-step synthesis of the stable [4]helicenium dye, 1,13-dimethoxy-chromeno[2,3,4-kl]xanthenium hexafluorophosphate (DMCX⁺) from the readily available tris(2,6-dimethoxyphenyl)carbenium ion is reported. The crystal structure, the chemical stability, and dye properties of the DMCX⁺ helicenium system are described.     

Simulation of Counter-Current Spontaneous Imbibition Based on Momentum Equations with Viscous Coupling,Brinkman Terms and Compressible Fluids

Transport in Porous Media - A numerical model is investigated representing counter-current spontaneous imbibition of water to displace oil or gas from a core plug. The model is based on mass and...     

Extraction based on the flow-injection principle: Part 3. Fluorimetric Determination of Vitamin B1 (Thiamine) by the Thiochrome Method

The thiochrome method for determination of vitamin B₁ in pharmaceutical preparations has been adapted to a continuous flow system based on the flow-injection principle. The sample volume required for an analysis is about 150 /sml. For routine purposes a concentration range of 3 × 10^-4–6 × 10^-4 mg ml^-1 is used. Results obtained with the system agree well with results obtained manually. The consumption of organic phase is 2–3 ml/sample and the sampling rate is 30/h. A sampling rate of 70/h is easily attained if necessary. The relative standard deviation is about 1%.     

Synthesis of C-8 Deuterated Glycosides of 3-Deoxy-D-manno-oct-2-ulosonic Acid (Kdo) Related to Chlamydial Lipopolysaccharides

Summary.  Methyl glycosides of Kdo and a (2→8)-linked Kdo disaccharide were prepared which contain a deuterium label at C-8 of the reducing unit. The label was introduced in fair diastereoselectivity upon reduction of an aldehyde group using a chiral borane complex derived from N-benzyloxycarbonyl-(S)-proline which produced the 8-(S)-deuterated derivative as the major isomer. Further coupling with a Kdo bromide gave the α-(2→8)-linked disaccharide in good yield. The deprotected disaccharide serves as a model for NMR spectroscopic studies on the side chain conformation of a carbohydrate epitope from the bacterial pathogen Chlamydia. Received September 17, 2001. Accepted October 17, 2001     

Ein Apparat für die Dispersoidanalyse und einige Untersuchungen damit

Zusammenfassung Es wird die Einrichtung und Anwendung eines Apparates zu Feinheitsbestimmung nach der Pipettemethode beschrieben, der es erm?glicht, fortgesetzt Proben zu entnehmen, ohne da? die Aufschl?mmung nach jeder Probeentnahme neu homogenisiert werden mu?. Der Apparat ist ausgearbeitet auf der Grundlage eines von dem Verfasser früher angegebenen Apparattyps [Kolloidchem. Beih.27, 404 (1928)]. Die Zuverl?ssigkeit des Apparates wird n?her untersucht durch Anwendung eines auf der Flintkugelmühle vermahlenen kalzinierten, d?nischen Kugelflints. Weiterhin wird mit dem Apparat eine Untersuchung überTuorila's Kriterium für die orthokinetische Koagulation ausgeführt. Mit dem Apparat werden Feinheitsbestimmungen einiger gangbarer technischer Produkte (Kaolin, Blanc fixe, Portlandzement) vorgenommen.     

Topology optimization of microfluidic mixers

This paper demonstrates the application of the topology optimization method as a general and systematic approach for microfluidic mixer design. The mixing process is modeled as convection dominated transport in low Reynolds number incompressible flow. The mixer performance is maximized by altering the layout of flow/non‐flow regions subject to a constraint on the pressure drop between inlet and outlet. For a square cross‐sectioned pipe the mixing is increased by 70% compared with a straight pipe at the cost of a 2.5 fold increase in pressure drop. Another example where only the bottom profile of the channel is a design domain results in intricate herring bone patterns that confirm findings from the literature. Copyright © 2008 John Wiley & Sons, Ltd.