While the mapping of the human genome provides a tremendous tool for genetic research, it is still impractical to test the approximately 10 million common variations in human gene sequences to discover their role in diseases. Recent research, however, suggests that the variations on human chromosomes are organized into blocks of DNA, which come in a relatively small number of varieties (called haplotypes) and, which are relatively large in size. The knowledge of such an haplotype map would greatly facilitate the identification of genes causing common genetic diseases by lowering the number of SNPs needed to study. This project is in collaboration with 7 other groups located in China, Japan, UK and USA. The strategy consists in genotyping one single nucleotide polymorphism (SNP) every 5kb and to increase the density locally until enough information is generated to define each haplotype block in three different human populations. Our group has been assigned the analysis of chromosomes 2 and 4p, which correspond to approximately 10% of the human genome (or about 150 000 SNPs). For more information visit: www.genomequebec.mcgill.ca
Co-applicants:
| Bartha Maria | Knoppers | Université de Montréal |
| Michael | Phillips | McGill University and Genome Quebec Innovation Center |
| Andrei | Verner | McGill University and Genome Quebec Innovation Center |