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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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DNA Mutational Analysis*
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DNA, Single-Stranded / ultrastructure
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Electrophoresis, Polyacrylamide Gel
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Exons
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Genes
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Humans
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Molecular Sequence Data
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Mutation*
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Nucleic Acid Conformation
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Nucleic Acid Denaturation
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Ornithine-Oxo-Acid Transaminase / genetics*
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Polymerase Chain Reaction
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Polymorphism, Genetic*
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Prospective Studies
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Sensitivity and Specificity
Substances
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DNA, Single-Stranded
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Ornithine-Oxo-Acid Transaminase