Figure 5
From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Detection of the c.2447G>A (p.R722H) mutation in the POLG1 gene. POLG1 p.R722H mutation was detected from blood samples by restriction fragment analysis using the MlsI (BalII) enzyme. The 183 bp fragment is visible in the case of the c.2447G>A (p.R722H) allele and the 221 bp fragment in the case of the wild-type allele. Lane 1, 100 bp ladder; lane 2, Patient A1; lane 3, Patient A2; lane 4, Patient A3; lane 5, Patient B1; lane 6, Patient B2; lane 7, Mother of patients B1 and B2.