ABSTRACT
Variations in the sequences of the human genome play a central role in determining disease susceptibility and the results of drug therapy. Understanding this process will be a cornerstone of future “personalized medicine.”1 However, the detailed structure of the human genome is still not fully understood despite getting clearer.2,3 During the last few years, genome-wide association studies (GWAS) have produced hundreds of new susceptibility loci for many common diseases.4 This recent progress could lead to a situation where the genetic risk assessment for certain diseases and traits becomes feasible and small diagnostic genotyping platforms might be needed instead of the current high-throughput discovery genotyping and sequencing technologies.5 It would not be unrealistic to expect that only about 100-1500 genetic markers will be analyzed for a certain diagnostic test and this information, together with “traditional” information about the age, sex, environment, and lifestyle, could be used to predict the disease, its progression, or the potential dose of a suitable drug. This is already within reach using the currently available medium-scale genotyping technology. Here, we describe polymerase chain reaction (PCR) and genotyping protocols that allow us to solve problems at this genomic scale.
