A severe bleeding tendency was observed only in patients with FVII:C<0.10 %. Forty out of 123 patients (33 %) were symptomatic (43 bleedings). One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores. ![]() It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. A clinical heterogeneity with poor correlation with FVII:C levels has been described. In addition, we have created specific routines to help researchers design new therapeutic strategies, such as exon skipping, aminoglycoside read-through of stop codons, or monoclonal antibody selection and epitope scanning for gene therapy.Ĭongenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A large set of dedicated tools are now available for intronic mutations, including methods to calculate the consensus values (CVs) of potential splice sites and to search for exonic splicing enhancer (ESE) motifs. We also created specific tools for infrequent mutations such as gross deletions and duplications, and deep intronic mutations. Today the UMD retains all specifically designed tools to analyze mutations at the molecular level, as well as new sets of routines to search for genotype-phenotype correlations. We have implemented new features to integrate noncoding sequences, clinical data, pictures, monoclonal antibodies, and polymorphic markers (SNPs). Here we report the new release (September 2004) of this freely available tool (which allows the creation of LSDBs for virtually any gene and includes a large set of new analysis tools. To collect and analyze these data, we developed a generic software called Universal Mutation Databases (UMD) to create locus-specific databases. Knowledge about these mutations and their association with clinical and biological data is essential for clinicians, geneticists, and researchers. The cloning of new disease-causing genes can now be performed in silico, and thousands of mutations are being identified in diagnostic and research laboratories yearly. Exploitation of new I/O and memory management features found in the latest Linux distributions is provided, including a variety of 64-bit platforms like Intel, POWER, and zSeries.With the completion of the Human Genome Project, our vision of human genetic diseases has changed. O DB2 continues to invest in the Linux platform and now supports distributions based on the new 2.6 kernel. Combined with the new client reroute capability, HADR masks any failures from applications allowing uninterrupted access to data. O High Availability Disaster Recovery (HADR) provides a new alternative for delivering a high-availability solution by replicating data which includes a wizard allowing complete configuration in minutes. ![]() Other new features increase the flexibility of iterator use in SQLJ and enhance interactivity with host and iSeries databases. O There are numerous improvements to the DB2 Universal JDBC Driver for V8.2, including distributed transaction or JTA support, connection pooling support and JDBC 3.0 compliance. O Building on an already extensive integration with Visual Studio, DB2 is now the first relational database to support stored procedures written in Microsoft's Common Language Runtime (CLR) compliant languages such as Visual Basic and C#. O DB2 is delivering a variety of plug-ins, like database object manipulation and integrated help, to the Eclipse framework to allow developers to easily and efficiently interact with DB2. Among the tasks that can now be automated are database backups, data defragmentation (table or index reorganization), and data access optimization (collecting statistics). O DB2 will now automate key maintenance activities based on business policies. ![]() ![]() In tests conducted by IBM on a common complex query workload with one terabyte of data, Design Advisor was able to increase the performance of an un-tuned database by 84%. O The Design Advisor helps by suggesting design alternatives for advanced features like materialized query tables, multi-dimensional data clustering, partitioning, and indexing data. * Reduces deployment and management costs DB2 UDB, V8.2 builds on its market-proven industrial strength and on demand capabilities with the following key enhancements:
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