Elsevier

Genomics

Volume 13, Issue 2, June 1992, Pages 389-394
Genomics

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

https://doi.org/10.1016/0888-7543(92)90258-TGet rights and content

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 2020 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.

References (22)

  • K. Hayashi

    PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA

    PCR Methods Appl

    (1991)
  • Cited by (122)

    • Germ line mutations associated with breast cancer susceptibility

      2001, European Journal of Cancer
      Citation Excerpt :

      Following PCR amplification, DNA fragments are denatured and electrophoresed through a non-denaturing polyacrylamide gel, migration being determined by secondary structure, which is in turn determined by base composition. The sensitivity of SSCP is dependent on the size of the amplified fragment and is estimated to be between 70 and 95% in PCR products of 200 base pairs or less [38], decreasing to 50% when fragments larger than 400 base pairs are analysed. HDA relies on the formation of heteroduplexes between wild-type and mutant DNA strands during the late cycles of the PCR.

    View all citing articles on Scopus
    View full text