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POLGPolymerase Gamma
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0 years) with MDS carrying two mutations in one of four nuclear genes that cause mtDNA depletion ( POLG , DGUOK , TK2 , and SUCLA2 ).
Primers and probes used for allelic discrimination real-time PCR of the R964C and E1143G polymorphisms of POLG SNP C-2890T Forward Reverse Sense-wild Sense-mutant A-3428G Forward Reverse Antisense-wild Antisense-mutant Sequence PCR product size Primer 5 '-GCCAAAATCTTCAACTACG-3' 5 '-TGGGTGTTAAAGTGGATG-3' 180 Probe CAGCCCTTTGCTGAG(C)GCTTACTAAT CAGCCCTTTGCTGAG(T)GCTTACTAAT Primer 5 '-TGGCTGTTTGAAGAGTTTG-3' 5 '-CGCATACCTGGTCAAGAG-3' 138 Probe CGGTCCTCC(T)CCCGCACCAG CGGTCCTCC(C)CCCGCACCAG Red font is used to emphasise the change in the sequence.
They were not told about Alpers syndrome and its relationship to the POLG gene until after their third child was born.
We expect Polyus Gold International's GDRs to start trading today on the LSE under the ticker POLG LI.
Most patients, however, had an mtDNA content within the ref- erence interval, and some of the patients with POLG mutations had an mtDNA content greater than the mean control value (Fig.
Copeland's research has helped to identify approximately 200 POLG mutations in disease.
Human pol [gamma]A is a 140 kDa polypeptide with 1239 amino acids, (18) encoded by POLG (GenBank Accession AF497906.
mtDNA mutations with uneven tissue distribution or POLG [polymerase (DNA directed), [gamma], formerly POLG1] gene mutations.