Two-dimensional gene scanning: Exploring human genetic variability

Jan Vijg, Nathalie J. Van Orsouw

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Current methods for mutation detection are not optimized for the generation of highly accurate data on multiple genes of hundreds of individuals in population-based studies. Two-dimensional gene scanning (TDGS) is a high-resolution system for detecting mutational variants in multiple genes in parallel. TDGS is based on a combination of extensive multiplex polymerase chain reaction (PCR) and two-dimensional (2-D) DNA electrophoresis. The latter involves a size separation step followed by denaturing gradient gel electrophoresis (DGGE). TDGS tests for a number of large human disease genes have been designed, using a computer program to optimally position PCR primers around the relevant target sequences (e.g., exons) and evaluated using panels of samples with previously detected mutations. The results indicate a high sensitivity and specificity, equal to nucleotide sequencing, which is generally considered as the gold standard. Here, we describe the different components of the TDGS process and its potential application as a high-throughput system for the systematic identification of human gene variants.

Original languageEnglish (US)
Pages (from-to)1239-1249
Number of pages11
Issue number6
StatePublished - 1999
Externally publishedYes


  • Denaturing gradient gel electrophoresis
  • Gene mutation
  • Gene polymorphism
  • Human genetic variation
  • Review

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry


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