Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
1997-1-16
|
| pubmed:abstractText |
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q32.1. To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3' end of the CAG repeat affects intergenerational instability of the CAG repeat. The [expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes were found to result in significantly greater instability of the CAG repeat compared to the [expanded (CAG)n-CGG]/[normal (CAG)n-CGG] or [expanded (CAG)nGGG]/[normal (CAG)n-GGG] haplotypes. Multiple stepwise logistic regression analysis revealed that the relative risk for a large intergenerational change in the number of CAG repeat units (< -2 or > 2) is 7.7-fold (95% CI: 2.5-23.9) higher in the case of paternal transmission than in that of maternal transmission and 7.4-fold (95% CI: 2.4-23.3) higher in the case of transmission from a parent with the [expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes than in that of transmission from a parent with the [expanded (CAG)n-CGG]/[normal (CAG)n-CGG] or [expanded (CAG)n-GGG]/[normal (CAG)n-GGG] haplotypes. The combination of paternal transmission and the [expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes resulted in a 75.2-fold (95% CI: 9.0-625.0) increase in the relative risk compared with that of maternal transmission and the [expanded (CAG)n-CGG]/[normal (CAG)n-CGG] or [expanded (CAG)n-GGG]/[normal (CAG)n-GGG] haplotypes. The results suggest that an inter-allelic interaction is involved in the intergenerational instability of the expanded CAG repeat.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0964-6906
|
| pubmed:author |
pubmed-author:AbbasNN,
pubmed-author:AgidYY,
pubmed-author:BenomarAA,
pubmed-author:BriceAA,
pubmed-author:CancelGG,
pubmed-author:CassiMM,
pubmed-author:DürrAA,
pubmed-author:EndoKK,
pubmed-author:IgarashiSS,
pubmed-author:IkedaMM,
pubmed-author:JulienJJ,
pubmed-author:NishizawaMM,
pubmed-author:OyakeMM,
pubmed-author:RogaevE IEI,
pubmed-author:RogaevaE AEA,
pubmed-author:SanpeiKK,
pubmed-author:SasakiHH,
pubmed-author:SherringtonRR,
pubmed-author:St George-HyslopP HPH,
pubmed-author:StevaninGG,
pubmed-author:TakanoHH,
pubmed-author:TakiyamaYY,
pubmed-author:TanakaHH,
pubmed-author:TsudaTT,
pubmed-author:TsujiSS,
pubmed-author:WakisakaAA,
pubmed-author:WangG XGX,
pubmed-author:WeissenbachJJ,
pubmed-author:ZhouY XYX
|
| pubmed:issnType |
Print
|
| pubmed:volume |
5
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
923-32
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8817326-Chromosomes, Human, Pair 14,
pubmed-meshheading:8817326-Female,
pubmed-meshheading:8817326-Gene Frequency,
pubmed-meshheading:8817326-Genotype,
pubmed-meshheading:8817326-Humans,
pubmed-meshheading:8817326-Machado-Joseph Disease,
pubmed-meshheading:8817326-Male,
pubmed-meshheading:8817326-Polymorphism, Genetic,
pubmed-meshheading:8817326-Risk,
pubmed-meshheading:8817326-Sex Factors,
pubmed-meshheading:8817326-Trinucleotide Repeats
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
|
| pubmed:affiliation |
Department of Neurology, Niigata University, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|