| title: | STUDIES OF CAUSES OF MENTAL RETARDATION AND OTHER CONDITIONS USING MOLECULAR AND CYTOGENETIC METHODS |
|---|---|
| reg no: | ETF5486 |
| project type: | Estonian Science Foundation research grant |
| subject: |
3. Medical Sciences |
| status: | accepted |
| institution: | TU Faculty of Medicine |
| head of project: | Ruth Mikelsaar |
| duration: | 01.01.2003 - 31.12.2006 |
| description: | Aims of this project are to study causes (chromosomal abnormalities, gene mutations etc.) in the etiology of mental retardation, infertility and other conditions applying both molecular methods (PCR, ELISA) and cytogenetic methods (FISH, Multiprobe-FISH etc.). In this way we plan 1) to clear up genetic causes in these pathologic conditions, selecting out unexplained cases; 2) to identify type, size and origin of detected chromosomal abnormalities; 3) to study the role of submicroscopic subtelomeric chromosomal abnormalities in the etiology of unexplained mental retardation, sterility and other conditions; 4) to analyze the genotype-phenotype correlation in patients with detected chromosomal abnormalities to clear up the function of these chromosomal regions; 5) to study polymorphisms of glutation S-transferases in the etiology of some cases of mental retardation (fetal alcohol syndrome). The collected material (DNA, blood etc.) from the persons will be stored in banks for further studies. Expected results: to find new loci in genome which participate in the etiology or pathogenesis of mental retardation, infertility and other conditions. The analyses of genotype-phenotype correlation in patients with detected chromosomal abnormalities give us the better understanding of the relation between appropriate chromosomal regions and clinical features, including brain development and function.The obtained new knowledge and applying new methods give us possibility to improve the diagnosis, treatment and also preventive aids of causes in mental retardation, sterility and other conditions. ... |
| project group | ||||
|---|---|---|---|---|
| no | name | institution | position | |
| 1. | Jelena Lissitsina | IGMP | doctorant | |
| 2. | Ruth Mikelsaar | TU Faculty of Medicine | docent, head of Human Genetics Lab | |
| 3. | Kadi Varb | IGMP | lab.assistant-diplomant | |
| 4. | Epp Vessel | IGMP | physician-resident | |
| 5. | Mart Viikmaa | IGMP, University of Tartu | researcher | |