1. premutation - Noun
2. premutation - Adjective
premutation (not comparable)
Of or relating to a premutation.
premutation (plural premutations)
A nucleotide sequence variation that is not enough to be classed as a mutation (for example, does not affect protein expression enough to produce clinical symptoms) but nonetheless represents an unusual variant that is predisposed to still greater variation in future cell divisions (that is, predisposed to leading to a mutation).
By determining the number of CGG repeats on the X chromosome, this method allows for more accurate assessment of risk for premutation carriers in terms of their own risk of fragile X associated syndromes, as well as their risk of having affected children. Source: Internet
FXPOI affects female premutation carriers of Fragile X syndrome, which is caused by the FMR1 gene, when their ovaries are not functioning properly. Source: Internet
Individuals who are carriers of premutation alleles are at risk for developing fragile X-associated tremor/ataxia syndrome (FXTAS), a progressive neurodegenerative disease. Source: Internet
If an individual is diagnosed with FXS, genetic counseling for testing family members at risk for carrying the full mutation or premutation is a critical first-step. Source: Internet
In addition, premutation in females has been found to be associated with social anxiety. Source: Internet
Testing for premutation carriers can also be carried out to allow for genetic counseling. Source: Internet