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2006 | 53 | 3 | 591-595
Article title

Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay

Content
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EN
Abstracts
EN
Many well-defined mutations in the gene for the catalytic subunit of polymerase γ (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.
Publisher

Year
Volume
53
Issue
3
Pages
591-595
Physical description
Dates
published
2006
received
2006-03-28
revised
2006-08-09
accepted
2006-08-14
(unknown)
2006-08-23
Contributors
  • The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland
  • The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland
  • Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
  • Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
  • The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv53p591kz
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