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Review of denaturant capillary electrophoresis in DNA variation analysis
Author(s) -
Bjørheim Jens,
Ekstrøm Per Olaf
Publication year - 2005
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.200410403
Subject(s) - biology , single nucleotide polymorphism , capillary electrophoresis , genetics , computational biology , dna , dna sequencing , gene , microbiology and biotechnology , genotype
Analyses of germline and somatic single‐nucleotide DNA variations are important in both population genetics research and clinical practice. Reliable and inexpensive methods that are flexible and designed for automation are required for these analyses. Present day DNA sequencing technology is too expensive for testing all 22–25 000 human genes in populations genetics studies or in scanning large numbers of tumors for novel mutations. Denaturant capillary electrophoresis (DCE) has the potential to meet the need for large‐scale analysis of DNA variants. Several different analyses can be performed by DCE, including mutation analysis, single‐nucleotide polymorphism (SNP) discovery in individual and pooled samples, detection of allelic imbalance, and determination of microhaplotypes. Here we review the theoretical background of the method, its sensitivity, specificity, detection limit, throughput, and repeatability in the light of current literature in the field.