Two-Dimensional Gene Scanning

  • Daizong Li
  • Nathalie van Orsouw
  • Chris Huang
  • Jan Vijg


The large size of many human genes, in combination with the frequent occurrence of many different mutations over the entire gene, severely limits direct diagnosis. Since gene diagnosis by sequencing on a large scale is not yet cost-effective, other methods such as the analysis of single-strand conformation polymorphisms (SSCP), heteroduplex analysis, and analysis by denaturing gradient gel electrophoresis (DGGE) are presently being employed (for a review, see Cotton, 1993; see also elsewhere in this volume). While these systems are very useful, they are difficult to adapt for large-scale analyses and most of them are restricted in their detection rates. Moreover, all currently available methods lack uniformity and standardization.


Cystic Fibrosis Transmembrane Conductance Regulator Detect Point Mutation Electrophoresis Instrument Melting Domain Comprehensive Mutation Analysis 
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Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • Daizong Li
    • 1
  • Nathalie van Orsouw
    • 1
  • Chris Huang
    • 1
  • Jan Vijg
    • 1
  1. 1.Molecular Genetics Section, Gerontology Division, Department of MedicineBeth Israel Hospital and Harvard Medical SchoolBostonUSA

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