Finding a gene for Bardet-Biedl Syndrom

Regions: North Slave Region

Tags: health, genetics, dna

Principal Investigator: Musarella, Maria A. (1)
Licence Number: 12288
Organization: The Hospital for Sick Children
Licenced Year(s): 1992
Issued: Jan 01, 1992
Project Team: Elise Heon, Carole Panton, Carol Westall, Leslie MacKeen, Sue Ponchillia (liaison)

Objective(s): To study families affected with the Bardet-Biedl Syndrom in order to localize the disease to a specific chromosome.

Project Description: 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.