Document Detail

A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
MedLine Citation:
PMID:  9598323     Owner:  NLM     Status:  MEDLINE    
Using the direct identification of repeat expansion and cloning technique, we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is highly polymorphic, with a heterozygosity of 85%, and exhibits a bimodal distribution (allele S, 10-26 repeat units, and allele L, 50-92 repeat units). The CAG/CTG repeat of allele L exhibited intergenerational instabilities, which are more prominent in maternal transmission than in paternal transmission. Analyses of Northern blot and RT-PCR indicate that the repeat is transcribed. Although the size of the CAG/CTG repeat of allele L is within the range of the expanded CAG repeat of disease-causing genes, we did not detect any association of allele L with various neurodegenerative diseases, including frontotemporal dementia and parkinsonism, mapped to 17q21-q23.
T Ikeuchi; K Sanpei; H Takano; H Sasaki; K Tashiro; G Cancel; A Brice; T D Bird; G D Schellenberg; M A Pericak-Vance; K A Welsh-Bohmer; L N Clark; K Wilhelmsen; S Tsuji
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  49     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-08-06     Completed Date:  1998-08-06     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  321-6     Citation Subset:  IM    
Department of Neurology, Niigata University, Japan.
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MeSH Terms
Base Sequence
Chromosome Mapping / methods
Chromosomes, Human, Pair 17 / genetics*
Genes, Dominant
Molecular Sequence Data
Polymorphism, Genetic / genetics
Spinocerebellar Degenerations / genetics
Trinucleotide Repeats / genetics*
Grant Support

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