Article
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
Human mutation - 1 Mar 2017
Ardui Simon, Race Valerie, Zablotskaya Alena, Hestand Matthew S, Van Esch Hilde, Devriendt Koenraad, Matthijs Gert, Vermeesch Joris R
Abstract excerpt
The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. The...
Topics
- Ataxia
- DNA Mutational Analysis
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Heterozygote
- Humans
- Male
- Mutation
- Tremor
- Trinucleotide Repeat Expansion