IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, TBP Gene
Definition : Molecular assay reagents intended to identify CAG repeats in the TATA box binding protein (TBP) gene, located at chromosome 6q27. Normal alleles have from 25 to 42 CAG/CAA trinucleotide repeats. A variation from the expected number of normal CAG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 43 to 66 CAG/CAA trinucleotide repeats have been associated with spinocerebellar type 17 (SCA17).
Entry Terms : "Spinocerebellar Ataxia Type 17 (SCA17) Gene Mutation Reagents" , "Ataxia Gene Mutation Reagents" , "TBP Gene Mutation Detection Reagents, CAG Trinucleotide Repeats" , "Reagents, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, TBP Gene"
UMDC code : 25029