Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection
- 1 January 1999
- journal article
- review article
- Published by Wiley in Electrophoresis
- Vol. 20 (6) , 1177-1185
- https://doi.org/10.1002/(sici)1522-2683(19990101)20:6<1177::aid-elps1177>3.0.co;2-2
Abstract
Single‐strand conformation polymorphism (SSCP) and heteroduplex analysis (HA) are popular electrophoretic methods for the identification of sequences. The principle reasons for the popularity of these two methods are their technical simplicity and their relatively high sensitivity for the detection of mutations. Here we review the theory and practice of SSCP and HA, including the factors contributing to the sensitivity of mutation detection. For SSCP analysis, these factors include: choice of gel matrix, electrophoretic conditions, presence of neutral additives, fragment size, and G+C content. For HA, the principle factors influencing sensitivity are the gel matrix and the identity of the base mismatch.Keywords
This publication has 59 references indexed in Scilit:
- SSCP analysis of long DNA fragments in low pH gelHuman Mutation, 1997
- Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomasHuman Genetics, 1996
- Analysis of Clonality by Polymerase Chain Reaction for Phosphoglycerate Kinase-1Diagnostic Molecular Pathology, 1995
- Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysisHuman Molecular Genetics, 1994
- Limitations in the use of SSCP analysisMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1993
- Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.Genome Research, 1992
- Polymerase chain reaction—single-strand conformation polymorphism analysis of polymorphism in DPA1 and DPB1 genes: A simple, economical, and rapid method for histocompatibility testingHuman Immunology, 1992
- Single base mismatches in DNA long- and short-range structure probed by analysis of axis trajectory and local chemical reactivityJournal of Molecular Biology, 1989
- The contrasting structures of mismatched DNA sequences containing looped-out bases (bulges) and multiple mismatches (bubbles)Nucleic Acids Research, 1989
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989