Trinucleotide Repeat Disorders

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 where trinucleotide repeats in certain genes exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable microsatellite repeats that occur throughout all genomic sequences. If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene.

Trinucleotide repeats are sometimes classified as insertion mutations and sometimes as a separate class of mutations.

Read more about Trinucleotide Repeat Disorders:  Summary, History, Symptoms, Genetics, Types, Trinucleotide Repeat Expansion

Famous quotes containing the words repeat and/or disorders:

    What other words, we may almost ask, are memorable and worthy to be repeated than those which love has inspired? It is wonderful that they were ever uttered. They are few and rare indeed, but, like a strain of music, they are incessantly repeated and modulated by the memory. All other words crumble off with the stucco which overlies the heart. We should not dare to repeat these now aloud. We are not competent to hear them at all times.
    Henry David Thoreau (1817–1862)

    It no longer makes sense to speak of “feeding problems” or “sleep problems” or “negative behavior” is if they were distinct categories, but to speak of “problems of development” and to search for the meaning of feeding and sleep disturbances or behavior disorders in the developmental phase which has produced them.
    Selma H. Fraiberg (20th century)