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Trinucleotide repeat

Definition(s)

Sequences of three nucleotides repeated in tandem on the same chromosome a number of times. A normal, polymorphic variation in repeat number with no clinical significance commonly occurs between individuals; however, repeat numbers over a certain threshold can, in some cases, lead to adverse effects on the function of the gene, resulting in genetic disease.

Definition from: GeneTestsThis link leads to a site outside Genetics Home Reference. from the University of Washington and Children's Health System, Seattle

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: November 20, 2009