A study of the Huntington's disease associated trinucleotide repeat in the Scottish population

L.H. Barron, J.P. Warner, M. Porteous, Sheila A Simpson, R. Davidson, D.J. Brock

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Abstract

Accurate measurements of a specific CAG repeat sequence in the Huntington's disease (HD) gene in 337 HD patients and 229 normal controls from the Scottish population showed a range from 35 to 62 repeats in affected subjects and eight to 33 in normal subjects. A link between early onset of symptoms and very high repeat number was seen. For HD patients with the most common affected allele sizes (39 to 42 repeats) absolute repeat size was a poor index for the age at onset of symptoms. There was variability in the transmitted repeat size for both sexes in the HD size range. We observed a significant increase of repeat size for paternal transmission of the disease and greater instability for paternally transmitted CAG repeats in the HD size range.
Original languageEnglish
Pages (from-to)1003-1007
Number of pages5
JournalJournal of Medical Genetics
Volume30
Issue number12
DOIs
Publication statusPublished - Dec 1993

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Barron, L. H., Warner, J. P., Porteous, M., Simpson, S. A., Davidson, R., & Brock, D. J. (1993). A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. Journal of Medical Genetics, 30(12), 1003-1007. https://doi.org/10.1136/jmg.30.12.1003