Bias in the genomic distribution of CAG and CTG trinucleotide repeats

O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Guy, C 1997. Bias in the genomic distribution of CAG and CTG trinucleotide repeats. American Journal of Medical Genetics 74 (1) , pp. 62-64. 10.1002/(SICI)1096-8628(19970221)74:1<62::AID-AJMG14>3.0.CO;2-P

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley
ISSN:	0148-7299
Last Modified:	31 Oct 2022 09:39
URI:	https://orca.cardiff.ac.uk/id/eprint/81906

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