IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, GAA, FRDA Gene
Definition : Molecular assay reagents intended to identify GAA repeats in the frataxin (FRDA) gene, located at chromosome 9q13, 9p23-p11. Normal alleles have from 5 to 33 GAA trinucleotide repeats. A variation from the expected number of normal GAA trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 66 to 1,000 GAA trinucleotide repeats disrupt the production of frataxin, which severely reduces the amount of this protein in cells; they are associated with Friedreich's ataxia.
Entry Terms : "Friedreich's Ataxia Gene Mutation Reagents" , "Ataxia Gene Mutation Reagents" , "Reagents, Molecular Assay, Gene Disorder, Trinucleotide Repeats, GAA, FRDA Gene"
UMDC code : 25044