Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1996-12-5
|
| pubmed:abstractText |
The expansion of trinucleotide repeats has been associated with late-onset neurodegenerative disorders. Although the genes harbouring the triplet expansions may be widely expressed, the pathological expression of these diseases is restricted to specific tissues. Non-insulin-dependent diabetes mellitus (NIDDM) shares several features with diseases resulting from such dynamic mutations including late-onset and specific but limited sites of tissue pathology-muscle, fat, liver and insulin-secreting pancreatic beta cells. In order to examine the contribution of genes containing polymorphic CAG/CTG repeats to the development of NIDDM, we screened an adult human skeletal muscle cDNA library for expressed sequences containing tandem repeats of CAG and/ or CTG. Ten different loci with polymorphic CAG/ CTG repeats were identified, of which seven had a heterozygosity greater than 0.20. There was no evidence for linkage between these seven loci and NIDDM in a group of affected Mexican-American sib pairs. Nor was there a significant difference in the distribution of alleles between Caucasian patients with NIDDM and normal healthy control subjects or evidence for repeat expansion in diabetic subjects. Thus, muscle genes with polymorphic CAG/CTG repeats do not appear to play a significant role in the development of NIDDM.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0012-186X
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
39
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
725-30
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:8781769-Adult,
pubmed-meshheading:8781769-African Continental Ancestry Group,
pubmed-meshheading:8781769-Alleles,
pubmed-meshheading:8781769-Base Sequence,
pubmed-meshheading:8781769-Chromosome Mapping,
pubmed-meshheading:8781769-DNA, Recombinant,
pubmed-meshheading:8781769-DNA Primers,
pubmed-meshheading:8781769-Diabetes Mellitus, Type 2,
pubmed-meshheading:8781769-Disease Susceptibility,
pubmed-meshheading:8781769-European Continental Ancestry Group,
pubmed-meshheading:8781769-Female,
pubmed-meshheading:8781769-Gene Library,
pubmed-meshheading:8781769-Genetic Linkage,
pubmed-meshheading:8781769-Genetic Markers,
pubmed-meshheading:8781769-Heterozygote,
pubmed-meshheading:8781769-Humans,
pubmed-meshheading:8781769-Infant, Newborn,
pubmed-meshheading:8781769-Mexican Americans,
pubmed-meshheading:8781769-Muscle, Skeletal,
pubmed-meshheading:8781769-Polymerase Chain Reaction,
pubmed-meshheading:8781769-Polymorphism, Genetic,
pubmed-meshheading:8781769-Proteins,
pubmed-meshheading:8781769-Trinucleotide Repeats
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle.
|
| pubmed:affiliation |
Howard Hughes Medical Institute, University of Chicago.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|