Document Detail

Trinucleotide repeat length instability and age of onset in Huntington's disease.
MedLine Citation:
PMID:  8401587     Owner:  NLM     Status:  MEDLINE    
The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.
M Duyao; C Ambrose; R Myers; A Novelletto; F Persichetti; M Frontali; S Folstein; C Ross; M Franz; M Abbott
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
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:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  387-92     Citation Subset:  IM    
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129.
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MeSH Terms
Age Factors
Heterozygote Detection
Huntington Disease / genetics*,  physiopathology*
Linkage (Genetics)
Linkage Disequilibrium
Middle Aged
Repetitive Sequences, Nucleic Acid*
Spermatozoa / physiology
Grant Support
Comment In:
Nat Genet. 1993 Aug;4(4):329-30   [PMID:  8401575 ]

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