| title: | Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation |
|---|---|
| reg no: | ETF5467 |
| project type: | Estonian Science Foundation research grant |
| subject: |
1.6-1.9. Chemistry and Molecular Biology 3. Medical Sciences |
| status: | accepted |
| institution: | TU Faculty of Biology and Geography |
| head of project: | Ants Kurg |
| duration: | 01.01.2003 - 31.12.2006 |
| description: | The aim of the current project is the development, validation and introduction to karotyping practice of a novel DNA diagnostic technology called Multiplex Amplifiable Probe Hybridization ? DNA-based Chromosomal Analysis (MAPH-DCA), for the detection of structural chromosomal abnormalities in case of mental retardation. The technology allows to identify chromosomal abnormalities beyond the resolution of current cytogenetic techniques. During the first step of planned project, four sets of unique, well-localized, non-polymorphic, non-repetitive probes with different resolution covering 500, 1000, 2000, and 3000 loci, respectively, and all human chromosomes will be designed. These probes will be amplified by PCR, cloned and probe banks constructed. Secondly, MAPH-DCA probe mixtures will be made, where each probe contains universal primer sequences on both ends allowing for later amplification. DNA microarrays carrying the same probes but without universal primers will also be prepared. For karyotyping MAPH-DCA reactions will be performed and results quantified using rehybridization on DNA microarrays, which allows parallel analysis of all used loci. The result is a chromosomal analysis completed within 48 hours, which is much faster and cheaper than other cytogenetic methods currently applied. The new technology will be used in prenatal, postnatal and cancer chromosomal analysis as well as for various research purposes to solve the reasons of mental retardation and to understand the molecular basis of intelligence development. |
| project group | ||||
|---|---|---|---|---|
| no | name | institution | position | |
| 1. | Ants Kurg | TU Faculty of Biology and Geography | Associate Professor | |
| 2. | Tiit Nikopensius | Univ. Tartu | Scientist | |
| 3. | Katrin Õunap | Tartu Univ. Clinic | Geneticist | |