title: Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay.
abstract: Many well-defined mutations in the gene for the catalytic subunit of polymerase gamma (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagnostics of POLG1.
authors.affiliation: The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Stopińska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
authors.forename: Boris A
authors.initials: BA
authors.lastname: Malyarchuk
authors.forename: Miroslava V
authors.initials: MV
authors.lastname: Derenko
authors.forename: Danuta
authors.initials: D
authors.lastname: Miścicka-Sliwka
mesh_terms: D003545:Cysteine / Q000235:genetics; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005787:Gene Frequency; D005821:Genetic Techniques; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D014443:Tyrosine / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D014443:Tyrosine; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; D003545:Cysteine