Pharmacogenetic Analysis of Clinically Relevant Genetic Polymorphisms

With the recent publication of the human genome sequence, there has been an expanse of publicly available resources for pharmacogenomics research. Early estimates predicted that over 3 million single nucleotide polymorphisms (SNPs) are present in the human genome, with over 1.42 million already deposited in the public databases (1 ). SNPs in coding and control regions of genes can cause significant inter-individual variation in the resulting protein function and activity, leading to important differences in disease susceptibility and drug metabolism. This expansion in valuable SNPs has stimulated the development of a number of detection methods (2 ). We describe protocols for three distinct methods (allele-specific polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and Pyrosequencing) as examples of ways to assay clinically relevant polymorphisms.