IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CGG, FMR1 Gene
Definition : Molecular assay reagents intended to identify CGG repeats in the fragile X mental retardation 1 (FMR1) gene, located at chromosome Xq27.3. Normal alleles have from10 to 40 CGG trinucleotide repeats and are typically interrupted by AGG trinucleotide repeats. A variation from the expected number of normal CGG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 200 to 1,000 CGG trinucleotide repeats have been associated with fragile X-associated mental retardation (FRAXE). Alleles with from 55 to 200 CGG repeats have been associated with fragile X-associated tremor/ataxia syndrome (FXTAS). Women that have alleles with from 35 to 54 CGG trinucleotide repeats have an increased risk of developing premature ovarian failure.
Entry Terms : "FMR1-Related Premature Ovarian Failure Gene Mutation Reagents" , "Premature Ovarian Failure (POF) Disease Gene Mutation Reagents" , "Fragile X-Tremor/Ataxia Syndrome (FXTAS) Gene Mutation Reagents" , "Fragile X Syndrome Gene Mutation Reagents" , "FMR1 Gene Mutation Detection Reagents, CGG Trinucleotide Repeats" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Fragile X Syndrome" , "Reagents, Molecular Assay, Gene Disorder, Trinucleotide Repeats, CGG, FMR1 Gene"
UMDC code : 25032