Development of a screening set for new (CAG/CTG)n dynamic mutations.

Abstract The expansion of a (CAG/CTG) n triplet repeat has been found to be associated with at least seven genetic diseases, suggesting that this mechanism of disease may be fairly common. To accelerate the discovery of new loci containing (CAG/CTG) n triplet expansions, we have isolated numerous genomic clones containing this class of repeats. We have developed 338 sequence-tagged sites (STSs) containing (CAG/CTG) n repeat sequences. Two hundred ninety-nine STSs were unambiguously assigned to chromosomes, and 89 of the total were assigned to YACs. The 141 STSs that were developed based on (CAG/CTG) n repeats of at least seven units were genotyped on four reference CEPH individuals to estimate their polymorphic quality.