Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. |
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Authors: | J Michaud L C Brody G Steel G Fontaine L S Martin D Valle G Mitchell |
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Institution: | Section de génétique médicale H?pital Sainte-Justine, Montreal, Quebec, Canada. |
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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. |
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