Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
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.
Michaud
J
J
Section de génétique médicale Hôpital Sainte-Justine, Montreal, Quebec, Canada.
Brody
L C
LC
Steel
G
G
Fontaine
G
G
Martin
L S
LS
Valle
D
D
Mitchell
G
G
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
D004277:DNA, Single-Stranded; D009953:Ornithine-Oxo-Acid Transaminase