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

• Authors: Katarzyna Stopińska , Tomasz Grzybowski , Boris A Malyarchuk , Miroslava V Derenko , Danuta Miścicka-Śliwka
• Languages of publication: 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.

Keywords

EN

real-time PCR; polymerase γ; progressive external ophthalmoplegia; single nucleotide polymorphisms (SNPs)

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2006
• Volume: 53
• Issue: 3
• Pages: 591-595

Dates

published

2006

received

2006-03-28

revised

2006-08-09

accepted

2006-08-14

(unknown)

2006-08-23

Contributors

author

Katarzyna Stopińska

• The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland

author

Tomasz Grzybowski

• The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland

author

Boris A Malyarchuk

• Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia

author

Miroslava V Derenko

• Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia

author

Danuta Miścicka-Śliwka

• The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Chair of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland

References

• Aknin-Seifer LE, Touraine RL, Lejeune H, Jimenez C, Chouteau J, Siffroi JP, McElreavey K, Bienvenu T, Patrat C, Levy R (2005) Hum Reprod 20: 736-740.
• Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Nature 290: 457-465.
• Bandelt HJ, Yao YG, Kivisild T (2005) Schizophr Res 72: 267-269.
• Barthelemy C, de Baulny HO, Lombes A (2002) Hum Genet 110: 479-487.
• Copeland WC, Ponamarev MV, Nguyen D, Kunkel TA, Longley MJ (2003) Acta Biochim Polon 50: 155-167.
• Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S (2005) Ann Neurol 57: 921-923.
• DiMauro S (2004) Biochim Biophys Acta 1659: 107-114.
• Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S (2003) Arch Neurol 60: 1279-1284.
• Finnila S, Hassinen IE, Majamaa K (1999) Mutat Res 406: 109-114.
• Fornage M, Doris PA (2005) Methods Mol Med 108: 159-172.
• Graziewicz MA, Longley MJ, Copeland WC (2006) Chem Rev 106: 383-405.
• Johnson VJ, Yucesoy B, Luster MI (2004) Cytokine 27: 135-141.
• Kaguni LS (2004) Annu Rev Biochem 73: 293-320.
• Krausz C, Guarducci E, Becherini L (2004) J Clin Endocrinol Metab 89: 4292-4297.
• Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M (2002) Ann Neurol 52: 211-219.
• Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC (2005) Gene 354: 125-131.
• Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A (2004) Lancet 364: 875-882.
• Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Wozniak M, Miscicka-Sliwka D (2002) Ann Hum Genet 66: 261-283.
• Mancuso M, Filosto M, Oh SJ, DiMauro S (2004) Arch Neurol 61: 1777-1779.
• Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley J, Finch KL, Stevens JF, Livak KJ, Slotterbeck BD, Slifer SH, Warren LL, Conneally PM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM (2000) Am J Hum Genet 67: 383-394.
• Ropp PA, Copeland WC (1996) Genomics 36: 449-458.
• Rovio AT, Marchington DR, Donat S, Schuppe HCh, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT (2001) Nat Genet 29: 261-262.
• Spinazzola A, Zeviani M (2005) Gene 354: 162-168.
• The International SNP Map Working Group (2001) Nature 409: 928-933.
• Tully LA, Parsons TJ, Steighner RJ, Holland MM, Marino MA, Prenger VL (2000) Am J Hum Genet 67: 432-443.
• Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Nat Genet 28: 211-212.
• Van Goethem G, Martin JJ, Dermaut B, Lofgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C (2003) Neuromuscul Disord 13: 133-142.