SNaPshot for Pharmacogenetics by Minisequencing

  • Klaus Bender
Part of the Methods in Molecular Biology book series (MIMB, volume 297)


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.

Key Words

SNPs pharmacogenetic CYP2D6 CYP2C19 minisequencing 


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Copyright information

© Humana Press Inc., Totowa, NJ 2005

Authors and Affiliations

  • Klaus Bender
    • 1
  1. 1.Institut für RechtsmedizinMainzGermany

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