Molecular genetic analysis of POLG. a) Electropherogram showing the presence or absence of the novel splice site mutation in intron 6 of the patient, his parents and the prenatal diagnosis in the gDNA. b) Electropherogram showing the presence or absence of the p.A467T mutation in exon 7 of the patient, his parents and the prenatal diagnosis in the gDNA. c) Electropherogram showing aberrantly spliced POLG mRNA lacking exon 7 by sequencing the gel isolated lower band derived from patient's lane in d). d) Agarose gel showing POLG transcript analysis POLG mRNA derived from fibroblasts. An aberrant splicing product lacking exon 7 is detected in patients cDNA. e) Pedigree of the family including the genotype.
Schaller et al. BMC Neurology 2011 11:4 doi:10.1186/1471-2377-11-4