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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Snell, Russell G., MacMillan, John C., Cheadle, Jeremy Peter, Fenton, Iain, Lazarou, Lazarus P., Davies, Peter, MacDonald, Marcy E., Gusella, James F., Harper, Peter Stanley and Shaw, Duncan J. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4 (4) , pp. 393-397. 10.1038/ng0893-393

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Abstract

The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30−70 repeats in affected individuals and 9−34 in normals. We find significant negative correlations between the number of repeats on the HD chromosome and age at onset, regardless of sex of the transmitting parent, and between the number of repeats on the normal paternal allele and age at onset in individuals with maternally transmitted disease. This effect of the normal paternal allele may account for the weaker age at onset correlation between affected sib pairs with disease of maternal as opposed to paternal origin and suggests that normal gene function varies because of the size of the repeat in the normal range and a sex−specific modifying effect.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Nature
ISSN: 1061-4036
Last Modified: 28 Jun 2019 02:38
URI: http://orca-mwe.cf.ac.uk/id/eprint/61598

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