Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations

Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations

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 ana...

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Bibliographic Details
Published in:Annals of clinical and laboratory science Vol. 32; no. 2; p. 107
Main Authors: Donnelly, James G, Detombe, Sarah, Hindmarsh, J Thomas
Format: Journal Article
Language:English
Published: United States 2002
Subjects:
Adult
Electrophoresis - methods
Exons
Feces - chemistry
Female
Flavoproteins
Genetic Testing - methods
Humans
Male
Middle Aged
Mitochondrial Proteins
Nucleic Acid Denaturation
Oxidoreductases - genetics
Oxidoreductases Acting on CH-CH Group Donors
Point Mutation
Polymorphism, Single-Stranded Conformational
Porphyrias, Hepatic - genetics
Porphyrins - analysis
Porphyrins - urine
Protoporphyrinogen Oxidase
Siblings
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Summary: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.
ISSN:0091-7370