Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 1993 Aug;4(4):393-7.

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

Author information

1
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

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.

Comment in

PMID:
8401588
DOI:
10.1038/ng0893-393
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center