title: Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis.
abstract: The identification of novel sequence variants, which may be either disease-causing mutations or silent polymorphisms, in large numbers of samples is becoming the rate-limiting step in associating diseases with specific genes. This is particularly true in light of the imminent arrival of the complete reference sequence of the human genome. A number of techniques have been developed to analyze DNA samples for sequence variants rapidly. We describe a new technique, capillary-based conformation-sensitive gel electrophoresis (capillary CSGE) that transfers mutation detection from acrylamide gel to capillary electrophoresis. Capillary CSGE was able to detect 7/7 short insertion/deletions and 16/22 base substitutions in a series of random single-nucleotide polymorphisms and known variants in the lipoprotein lipase and BRCA2 genes. This technique has the potential to screen many megabases of DNA in a single day.
authors.affiliation: Section of Molecular Carcinogenesis, Section of Cancer Genetics, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Rozycka
authors.forename: N
authors.initials: N
authors.lastname: Collins
authors.forename: M R
authors.initials: MR
authors.lastname: Stratton
authors.forename: R
authors.initials: R
authors.lastname: Wooster
mesh_terms: D024682:BRCA2 Protein; D004247:DNA; D019075:Electrophoresis, Capillary / Q000379:methods*; D014644:Genetic Variation; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009690:Nucleic Acid Conformation; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors; D004247:DNA; D008071:Lipoprotein Lipase