title: Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
abstract: We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-delta-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 20/20 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79%) of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity.
authors.affiliation: Section de génétique médicale Hôpital Sainte-Justine, Montreal, Quebec, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Michaud
authors.forename: L C
authors.initials: LC
authors.lastname: Brody
authors.forename: G
authors.initials: G
authors.lastname: Steel
authors.forename: G
authors.initials: G
authors.lastname: Fontaine
authors.forename: L S
authors.initials: LS
authors.lastname: Martin
authors.forename: D
authors.initials: D
authors.lastname: Valle
authors.forename: G
authors.initials: G
authors.lastname: Mitchell
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000648:ultrastructure; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D009691:Nucleic Acid Denaturation; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D012680:Sensitivity and Specificity
chemical_list: D004277:DNA, Single-Stranded; D009953:Ornithine-Oxo-Acid Transaminase