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Bias in the genomic distribution of CAG and CTG trinucleotide repeats

O'Donovan, Michael Conlon ORCID: 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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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 ( 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

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