Trinucleotide repeat expansion


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Trinucleotide repeat expansion

A sequence of three nucleotides that is repeated too many times in a section of a gene.
Mentioned in: Myotonic Dystrophy
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
Among genetic mutations, trinucleotide repeat expansion is increasingly recognized as the cause of a large subset of these conditions.
Compound heterozygous (2-5%) individuals possess a GAA trinucleotide repeat expansion on one allele and a point mutation on the other allele.
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of SCA world-wide, [sup][1],[2] and is caused by a pathologic CAG trinucleotide repeat expansion in the ATXN3 gene located on chromosome 14q32.12.
They discuss biogenesis and applications of microRNA; non-canonical microRNA biogenesis and function; non-coding RNAs and the epigenetic control of gene expression; the clinical translation of microRNA technologies for somatic cell reprogramming; systems biology tools for understanding the role of host microRNAs in infection, particularly in HIV; synthetic microRNA blocking agents; using microRNAs to regulate transgene expression, for gene silencing, and using RNAi for the treatment of viral infections; the role of microRNAs in cancers associated with human tumor viruses; microRNAs as cancer biomarkers; and microRNA deregulation in trinucleotide repeat expansion disorders.
Tapscott, "Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP," Nature Genetics, vol.
An example is fragile X syndrome, which is the result of a trinucleotide repeat expansion in one region of the genome that can result in autistic behavior, intellectual impairment, and seizures.
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich ataxia in 56 patients.
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.