FCCC LOGO Faculty Publications
Gastier JM , Brody T , Pulido JC , Businga T , Sunden S , Hu XT , Maitra S , Buetow KH , Murray JC , Sheffield VC , Boguski M , Duyk GM , Hudson TJ
Development of a screening set for New (CAG/CTG)(n) dynamic mutations
Genomics. 1996 Feb 15;32(1) :75-85
PMID: ISI:A1996TW55800009   
Back to previous list
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. (C) 1996 Academic Press, Inc.
Notes
Times Cited: 29 English Article TW558 GENOMICS