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Figure 1 | BMC Neurology

Figure 1

From: Molecular and biochemical characterisation of a novel mutation in POLGassociated with Alpers syndrome

Figure 1

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.

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