title: Bias in the genomic distribution of CAG and CTG trinucleotide repeats.
abstract: We investigated the hypothesis that the trinucleotide repeat CAG is disproportionately located in exons in genomic DNA by analyzing unbiased genomic sequences with the Gene Recognition and Analysis Internet Link program (http@avalon.epm.ornl.gov/). Forty percent of CAG/CTG repeats were predicted to lie within exons. This is significantly greater than would be expected by chance, and is also greater than we have observed for ATT/AAT repeats. Therefore, our data support the hypothesis. Furthermore, the data support the utility of a recently reported CAG/CTG PCR genomic screening set for identifying pathogenic expanded CAG/CTG repeats.
authors.affiliation: Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: O'Donovan
authors.forename: C
authors.initials: C
authors.lastname: Guy
mesh_terms: D003195:Computer Communication Networks; D016208:Databases, Factual; D005091:Exons / Q000235:genetics*; D016678:Genome; D015894:Genome, Human; D006801:Humans; D011618:Psychotic Disorders / Q000235:genetics; D012984:Software; D018911:Trinucleotide Repeats / Q000235:genetics*