| title: | Copy number polymorphisms in the human genome and genomic diseases |
|---|---|
| reg no: | ETF6589 |
| project type: | Estonian Science Foundation research grant |
| subject: |
3.1. Basic Medicine |
| status: | accepted |
| institution: | TU Faculty of Medicine |
| head of project: | Gunnar Tasa |
| duration: | 01.01.2006 - 31.12.2009 |
| description: | The term copy number polymorphism (CNP) refers to insertion or deletion variation of DNA fragments with length above 200 bp. Results published in recent papers had led to understanding, that copy number polymorphism is largely underestimated form of human genetic variation. As only limited number of persons had been tested in CNP studies performed so far, we think that considerable amount of CNPs are yet to be discovered. The knowledge about frequency of de novo occurrence of CNPs is based only on theoretical estimates. Relationship between alterations in CNPs and susceptibility to health problems such as obesity, cancer and neurological diseases has been suggested. The genome-wide study of copy number polymorphisms has been impossible until recent years because of the lack of suitable techniques, but development of micro-array based comparative genomic hybridization (CGH) methodology has provide a necessary tool for CNP investigations. The proposed project aims to describe CNPs in normal persons and in groups of patients. We will perform genome-wide large-scale screening of CNPs in normal population using large sample group in order to discover new CNPs and to establish CNP frequency. For estimation of the frequency of de novo occurrence of copy number polymorphisms, CNPs will be studied in families. To elucidate the role of CNP alterations in health problems we will perform gene dosage studies using DNA from persons suffering from obesity as well as from patients with psychiatric disorders. The CNP topic is of great interest and it is likely that the study will provide valuable information that is relevant to human diseases. The project has a great potential to develop further into different areas of medicine. |
| project group | ||||
|---|---|---|---|---|
| no | name | institution | position | |
| 1. | Erkki Juronen | |||
| 2. | Aavo Lang | |||
| 3. | Alar Sünter | |||
| 4. | Gunnar Tasa | Tartu Ülikool | ||
| 5. | Vitali Vassiljev | |||