Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Non-insulin-dependent diabetes mellitus (NIDDM) is characterized by impaired insulin-stimulated glucose uptake into glycogen. Both biochemical and genetic data have implicated glycogen synthase as a candidate for the genetic predisposition to diabetes. To test this hypothesis, we isolated cosmid clones containing genomic DNA for the glycogen synthase (GSY) gene and identified a region of 20 GT repeat units in a clone that extended 15 kilobases 3' to the gene. This region was highly polymorphic with nine alleles (heterozygosity 0.74). With the use of this polymorphism, the GSY was mapped on chromosome 19q between markers D19S217 and D19S210 and at theta = 0.036 from the histidine-rich calcium-binding protein (HRC) locus. Linkage to GSY was rejected under multiple models with logarithm of odds (LOD) scores of -1.36 to -5.22. In contrast, we could not reject linkage under dominant and intermediate (additive) models for the HRC locus (maximum LOD scores 1.51 and 1.54), despite the close proximity to GSY. Multipoint analysis of NIDDM versus GSY and HRC placed the putative diabetes locus centromeric to HRC and away from GSY. Furthermore, analysis of the previously associated Xba I polymorphism suggested neither linkage nor sib-pair sharing. We conclude that mutations of the GSY gene are unlikely to play a major role in the predisposition to NIDDM in our families. However, we cannot exclude a modifying role in a polygenic disorder or an important role in some families. The moderately positive LOD scores near the HRC locus suggest a need for evaluation of this region in additional NIDDM families.
Diabetes 1994 Aug
PMID:Description of a second microsatellite marker and linkage analysis of the muscle glycogen synthase locus in familial NIDDM. 791 86

We have identified a simple tandem repeat DNA polymorphism in the human glycogen synthase gene of the form (TG)n. This DNA polymorphism has 10 alleles and a heterozygosity of 0.82 and can be easily typed using the polymerase chain reaction. It has been localized within the framework genetic map of chromosome 19 and is located in the region of the apolipoprotein C-II and histidine-rich calcium-binding protein genes. This DNA polymorphism will facilitate genetic studies of the role of the glycogen synthase gene in the development of insulin resistance and NIDDM.
Diabetes 1993 Jun
PMID:Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q. 849 15