Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

Jacques Michaud, Lawrence C. Brody, Gary Steel, Gisèle Fontaine, Laura S. Martin, David Valle, Grant Mitchell

Research output: Contribution to journalArticle

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-δ-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.

Original languageEnglish (US)
Pages (from-to)389-394
Number of pages6
JournalGenomics
Volume13
Issue number2
DOIs
StatePublished - Jun 1992

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ASJC Scopus subject areas

  • Genetics

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