Document Detail


Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
MedLine Citation:
PMID:  8401588     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  4     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1993 Aug 
Date Detail:
Created Date:  1993-11-05     Completed Date:  1993-11-05     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  393-7     Citation Subset:  IM    
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age Factors
Aged
Base Sequence
Female
Genetic Variation*
Humans
Huntington Disease / genetics*
Male
Middle Aged
Molecular Sequence Data
Oligodeoxyribonucleotides
Phenotype
Polymerase Chain Reaction
Reference Values
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Oligodeoxyribonucleotides
Comments/Corrections
Comment In:
Nat Genet. 1993 Aug;4(4):329-30   [PMID:  8401575 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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