title: SNaPshot for pharmacogenetics by minisequencing.
abstract: Genetic polymorphisms of genes coding for metabolic enzymes are helpful to predict how an individual may respond to medication or drugs. The described approach for the identification of genetic variations for the cytochrome P450 enzymes CYP2D6 and CYP2C19 has been designed for the rapid genotyping of relevant alleles (CYP2D6*1, -*3, -*4, -*6, -*7, and -*8 and CYP2C19*1, -*2, -*3, -*4, and -*5) by performing polymerase chain reaction amplifications of genomic regions containing the SNP followed by a single-tube multiplex single base extension (minisquencing) reaction. This multiplex assay can easily be expanded for additional genes and single nucleotide polymorphisms (SNPs). Minisequencing is a sensitive, reproducible, and time-saving method for SNP typing that can be performed using ordinary laboratory equipment.
authors.affiliation: Institut für Rechtsmedizin, Mainz, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Bender
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001483:Base Sequence; D065731:Cytochrome P-450 CYP2C19; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D017931:DNA Primers; D004587:Electrophoresis, Agar Gel; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics*; D010597:Pharmacogenetics; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; D006899:Mixed Function Oxygenases; D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19; D019389:Cytochrome P-450 CYP2D6