Finding a gene for Bardet-Biedl Syndrom
| chercheur principal: | Musarella, Maria A. (1) |
| Nᵒ de permis: | 12288 |
| Organisation: | The Hospital for Sick Children |
| Année(s) de permis: |
1992
|
| Délivré: | janv. 01, 1992 |
| Équipe de projet: | Elise Heon, Carole Panton, Carol Westall, Leslie MacKeen, Sue Ponchillia (liaison) |
Objectif(s): To study families affected with the Bardet-Biedl Syndrom in order to localize the disease to a specific chromosome.
Description du projet: We plan to study Bardet-Biedl families (with at least 2 affected children) in order to determine if and how the disease is genetically linked. By following the inheritance of a DNA marker in affected families, it is possible to determine whether the disease is gene genetically linked to the DNA marker. A systematic screening of DNA markers (that are distributed over the 22 chromosomes) should then identify the markers linked to at least 1 Bardet-Biedl gene.
