Objective
One of the goals of mapping the human genome is to determine the genetic basis for disease. Chromosomal areas harbouring disease-related genes can be identified by genetic marker analysis, i.e. scanning the genome at many sites for genetic variation associated with the disease. In the ongoing EC project GENO-CT9I-0021 the two-dimensional (2-D) DNA typing technique is evaluated for its potential to measure DNA sequence variation at many sites in the genome simultaneously. The method is based on hybridization analysis of a 2-D separation pattern of a genomic DNA restriction enzyme digest using micro- and minisatellite core probes which detect many highly informative VNTRs. Major applications of 2-D DNA typing include analysing somatic genetic instabilities, e.g. occurring in tumorigenesis, and linkage analysis of genetic diseases. In the first phase of the proposed project 2-D DNA typing will be used (1) to further analyse CEPH pedigrees to develop more genetic markers, and (2) to develop a 2-D spot variant database which will be linked to databases containing physical mapping information. To facilitate the 2-D DNA typing procedure a newly developed apparatus will be used in which the first and second electrophoretic separation can be run in a single gel without manual interference. Subsequently, the 2-D method will be applied to compare tumor DNA with normal DNA from patients with cancer. 2-D DNA typing allows detection of allelic imbalance due to deletion and/or amplification at many chromosomal sites. This approach will identify genetic:markers and corresponding YAC clones to map chromosomal regions most likely containing tumor associated genes. In addition, 2-D DNA typing will be used to analyse genomic DNA of patients with diseases with genetic anticipation (myotonic Dystrophy and fragile X), using core probes for (CNG). motifs. Expansion of (CNG) repeats 5' and 3' of these disease genes has been shown to correllate with severity of the disease. Screening genomic DNA of patients with similar diseases by 2-D DNA typing with microsatellite core probes might identify genomic regions associated with these diseases. Finally, 2-D DNA typing will be used for pedigree analysis to detect genetic linkage with a disease gene. The expected results of the project include VNTR genetic markers, DNA markers for genetic diseases including cancer, and an optimized 2-D DNA typing protocol for analysing human genomic DNA.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences computer and information sciences databases
- natural sciences biological sciences genetics DNA
- medical and health sciences clinical medicine oncology
- natural sciences biological sciences genetics genomes
- natural sciences biological sciences biochemistry biomolecules proteins enzymes
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Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
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Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
2300 AR Leiden
Netherlands
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.