Document Detail

Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?).
MedLine Citation:
PMID:  8044653     Owner:  NLM     Status:  MEDLINE    
Huntington's disease (HD) is an autosomal dominant disorder with choreic movements, psychiatric manifestations and cognitive dysfunction. Recently the IT15 gene on chromosome 4p has been identified containing an unstable and expanded trinucleotide repeat in patients with HD. We report on the characteristics of this repeat in 248 individuals from 41 Belgian HD families. The length of the expanded repeat was defined precisely and reproducibly on an ALF sequencer and correlated well with the age of onset (r = -0.72). Paternal transmission of the expanded repeat resulted on average in a significantly longer repeat length (+2.79 repeats) than maternal transmission (-0.29 repeats). (CAG)n repeat of a premutation (?) size was observed in this population with subsequent expansion in the disease range. Presymptomatic or prenatal testing using only linked markers may be problematic in these cases.
E Legius; H Cuppens; H Dierick; K Van Zandt; R Dom; J P Fryns; G Evers-Kiebooms; M Decruyenaere; K Demyttenaere; P Marynen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  2     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  1994  
Date Detail:
Created Date:  1994-08-30     Completed Date:  1994-08-30     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  44-50     Citation Subset:  IM    
Center for Human Genetics, University of Leuven, Belgium.
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MeSH Terms
Age of Onset
Base Sequence
DNA / analysis
DNA Mutational Analysis
DNA Primers
Gene Expression
Genetic Testing / methods
Huntington Disease / diagnosis,  genetics*,  pathology
Middle Aged
Molecular Sequence Data
Repetitive Sequences, Nucleic Acid*
Sex Factors
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA

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

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