European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Genomics, technology, bioinformatics
orthodenticle group comprise the Drosophila orthodenticle (Otd) and
the vertebrate Otx1 and Otx2 genes. These play major roles in the
specification and regionalization of the anterior neuromeres. The Otx2
expression domain includes the forebrain and midbrain neuroectoderm,
and marks a sharp boundary at the midbrain-hindbrain junction.
This constitutes a cardinal signalling centre for brain patterning.
In concordance with their expression pattern, inactivation of Otd and
Otx2 in Drosophila and mouse embryos, respectively, leads to total
loss of the anterior part of the brain. Furthermore, experimental mouse
models show that the Otd and Otx2 proteins are functionally equivalent,
in spite of the different CNS architectures between Drosophila
and mouse. However, this equivalence is still subject to differential
transcriptional and translational control. In vertebrates, Otx gene duplication
and corresponding modification in genetic control may have
resulted in novel morphogenetic pathways, including the modification
in shape and size of different brain areas. The analysis of the developmental
expression of OTX genes in human embryos may therefore
reveal possible innovative roles in brain organogenesis and potential
links with neurological disorders. This may be particularly relevant in
the cases of OTX2 and DMBX1, the latter of which functions as a transcriptional
repressor.
P1265. The importance of bioinformatics and DNA Banks for
Human Genetics
M. A. Saremi1 , M. Tavallaei (Ph.D. ) 1 , M. Saremi2 ;
1 2 Imam Hussein University, Tehran, Islamic Republic of Iran, Reference Laboratories
of Iran - Research Center, Tehran, Islamic Republic of Iran.
Over the past few decades, major advances in the field of molecular
biology, coupled with advances in genomic technologies, have led
to an explosive growth in the biological information generated by the
scientific community. This deluge of genomic information has, in turn
led to an absolute requirement for computerized databases to store,
organize and index the data, and for specialized tools to view and analyze
the data.
Bioinformatics is a new scientific discipline that combines biology,
computer science, mathematics, and statistics into a broad-based field
that will have profound impacts on all fields of biology.
bioinformatics presents mathematical models along with biological
problems and computer science tools necessary to cope with data.
bioinformatics applications in genomics and proteomics and later-generation
techniques, etc are important, which attempts at linking genetic
information with structure and function of molecules, metabolic processes
and whole cells.
DNA bank is a global life sciences centre that creates and develops
innovative product-driven biotechnology ventures.
Moreover, Establishment of DNA banks will help approved researchers
to develop new and better ways of preventing, diagnosing and treating
different illnesses.
The establishment of DNA banks and the development of bioinformatics
are the most Important strategies for the future of Human Genetics.
It should be said that different DNA banks have now been established
in our country. We have established a human genomic DNA bank for
working on human genetic diseases. In the context of this human genomic
DNA bank, we further developed new bioinformatics software in
Imam Hussein University.
P1266. Genomic biomarkers for Huntington‘s disease
L. Lovrecic 1 , A. Kastrin 1 , J. Kobal 2 , B. Peterlin 1 ;
1 Division of Medical Genetics, University Medical Centre Ljubljana, Ljubljana,
Slovenia, 2 Department of Neurology, University Medical Centre Ljubljana, Ljubljana,
Slovenia.
The aim of our study was to validate previously published [1] gene
expression signatures in blood as a biomarker set for Huntington’s
disease (HD) and to test its potential clinical utility. By QRT-PCR we
tested 61 Slovenian patients and 30 healthy controls and showed that
11 out of 12 candidate genes were significantly overexpressed in HD
samples (p