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Single-Strand Conformational Polymorphism and Denaturing Gradient Gel Electrophoresis in Screening for Variegate Porphyria: Identification of Two New Mutations

Address correspondence to J. Thomas Hindmarsh, M.D., Division of Biochemistry, The Ottawa Hospital, 501 Smyth Road, Ottawa, Ontario, Canada KiH 8L6; tel 613 737 8312; fax 613 737 8315; e-mail jhindmarsh{at}ottawahospital.on.ca.

Single-strand conformational polymorphism and denaturing gel electrophoresis were used to screen for mutations in the protoporphyrinogen oxidase gene (PPOX) of three patients with clinically and biochemically proven variegate porphyria in order to select genomic regions for specific DNA sequence analysis. Two previously undescribed mutations were identified: PPOX1423–1426-delATCT and PPOX2272insG. Denaturing gel electrophoresis was able to discern the point mutation in exon 5 (PPOX2272insG) of the PPOX gene. Once an index individual has been identified, single-strand conformational polymorphism and denaturing gel electrophoresis techniques are useful to identify family members who may be unaffected carriers. Such identification can help potential cases to avoid medications and other triggers that could precipitate acute porphyric attacks.

Keywords: variegate porphyria, urine porphyrins, stool porphyrins, mutation, protoporphyrinogen oxidase