- Tytuł:
- Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay
- Autorzy:
-
Stopińska, Katarzyna
Grzybowski, Tomasz
Malyarchuk, Boris
Derenko, Miroslava
Miścicka-Śliwka, Danuta - Powiązania:
- https://bibliotekanauki.pl/articles/1041222.pdf
- Data publikacji:
- 2006
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
real-time PCR
polymerase γ
progressive external ophthalmoplegia
single nucleotide polymorphisms (SNPs) - Opis:
- 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.
- Źródło:
-
Acta Biochimica Polonica; 2006, 53, 3; 591-595
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł