trinucleotide repeat disorders
- trinucleotide repeat disorders
- triplet repeat disorders disorders caused by unstable, dynamic mutations that result in expansion of triplet repeats within the affected gene, leading to abnormalities in gene expression and function. The disorders differ significantly in such factors as inheritance pattern; base sequence, size, and intragenic location of the affected repeat; and degree of expansion and of instability of the repeats; but the underlying mechanism appears to be slipped strand mispairing during DNA replication. The group includes Huntington disease, myotonic dystrophy, Friedreich ataxia, and fragile X syndrome.
Medical dictionary.
2011.
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Trinucleotide repeat disorder — Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation … Wikipedia
Trinucleotide repeat expansion — Trinucleotide repeat expansion= Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in… … Wikipedia
trinucleotide repeat — triplet repeat an unstable DNA sequence of three nucleotides, occurring in some human genes and normally repeated in tandem 5 to 50 times; expansion above that number has been linked to certain genetic disorders. The triplet sequences always… … Medical dictionary
trinucleotide repeat disorder — noun Any of a group of disorders caused by stretches of DNA that contain a sequence of three nucleotides repeated many times … Wiktionary
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Direct repeat — Direct repeats are a type of genetic sequence that consists of two or more repeats of a specific sequence.[1] Direct repeats are nucleotide sequences present in multiple copies in the genome. There are several types of repeated sequences.… … Wikipedia
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