Posters

The lack of reference materials (RMs) for most genetic tests causes difficulties in validating and developing new assays, and results in tests being run without proper quality controls. EuroGentest and the EU-funded network for Medical Genetics, is addressing this issue by defining the present and future needs for RMs, setting priorities for and supporting the development of new RMs and building an enduring network involving all stakeholders in RM development.

We enhanced the gene prediction program GeneID with a framework for detecting U12-dependent introns without appreciable loss in gene prediction sensitivity or specificity. We present statistics on the performance of the U12-enhanced GeneID on a test set of known U12-intron-possessing genes as well as results for scans of both the ENCODE regions and the entire human genome.

In this study we compare methods for large-scale microarray analysis of protein and RNA level changes in HL-60 cells, responding to differentiation stimuli. Using microarrays we have found, that level of several proteins was either up- or down-regulated after cell differentiation. In some cases there was significant correlation with appropriate genes.

We have developed a web-based database, "PRIMe (Platform for RIKEN Metabolomics)," which contains powerful tools for researchers to analyze gene co-expression data and mass spectral data. PRIMe has been developed with the main aim of facilitating integrated analysis for transcriptomics and metabolomics.

Cell chips are developed to continuously monitor mammalian cell population dynamics in a non-invasive manner. In the presented work we describe the design, fabrication and characterization of a lab-on-a-chip for quantitative cell analysis.

The study explores the structural requirements of flavones for inhibition of aromatase activity. The QSAR analysis generates the model that shows the importance of flavone ring and with molecular lipophilicity. Presence of additional aromatic ring and m-hydroxy substitution on that ring increases inhibitory activity. Space modeling study further adjudged the presence of hydrogen bond acceptor, hydrophobic and aromatic ring and critical distance among features for the inhibitory activity.

We demonstrate that DNA methylation patterns can serve as characteristic markers to distinguish different cell types. We have identified panels of methylation markers that are specific to mesenchymal stem cells or various differentiated cell types in the mesenchymal lineage. This method of cell type identification has a number of advantages over conventional markers in that it is robust, is both qualitative and quantitative.

We have prepared and performed comparison studies using two kinds of resins, Fmoc-Lys(5-FAM)-Rink Amide resin (I) and Fmoc-Lys[5-FAM(trt)]-Rink Amide resin (II), the latter contains a phenolic hydroxyl group protected with a trityl group. Syntheses were carried out under the same standard conditions and the peptides obtained showed no significant difference in purity. The results of these studies showed that resin (I) is adequate for synthesis of C-terminal fluorescent labeled peptide.

Recently, TaqMan® assays have been developed for detection of genetic variation at gene level using primers and probes designed for genomic DNA sequences. The R package TaqGCN contains classes and methods that can be used for data reading and plotting, and for predicting gene copy number.