Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1993 Dec;30(12):1003-7.
doi: 10.1136/jmg.30.12.1003.

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

L H Barron  1 , J P Warner, M Porteous, S Holloway, S Simpson, R Davidson, D J Brock
Affiliations

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

L H Barron et al. J Med Genet. 1993 Dec.

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.

PubMed Disclaimer

References

    1. N Engl J Med. 1986 Nov 13;315(20):1267-76 - PubMed
    1. Science. 1991 Jun 21;252(5013):1711-4 - PubMed
    1. Hum Genet. 1992 Jun;89(4):365-76 - PubMed
    1. J Med Genet. 1992 Nov;29(11):761-5 - PubMed
    1. Am J Hum Genet. 1993 Jul;53(1):125-30 - PubMed

Substances