Figure 6
From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Detection of the c.2243G>C (p.W748S) mutation in the POLG1 gene. POLG1 p.W748S mutation was detected from blood and buccal smear samples by LNA-primers. Lanes 2-9 were obtained with the Polg14F/C primer, showing one 140 bp band in the case of the mutation, and lanes 10-17 with the Polg14F/G primer, showing a 140 bp band in the case of the wild-type. Lane 1, 100 bp ladder; lane 2, wild-type control; lane 3, positive mutation control; lane 4, heterozygous p.W748S control sample; lane 5, blood sample from patient B1; lane 6, buccal smear sample from B1; lane 7, mother; lane 8, patient B2; lane 9, H2O; lane 10, wild-type control; lane 11, positive mutation control; lane 12, heterozygous p.W748S control sample; lane 13, blood sample from patient B1; lane 14, buccal smear sample from patient B1; lane 15, mother; lane 16, patient B2; lane 17, H2O; lane 18, 100 bp ladder.