Single nucleotide polymorphisms are used to study the mutations of alleles by insertion, deletion and rearrangements. These polymorphisms can be associated with predisposition of disease and drug efficacy of an individual. Various technologies and instruments are used to detect polymorphisms and analyze data including electrophoresis, fluorescence polarization, mass spectrometry and luminescence. Numerous advancements in technologies have improved giving way to superior methods of detection. Information gained from the genome of an individual will provide personalized medicine to reduce reactions and increase the effects felt.
Single nucleotide polymorphisms (SNPs), are DNA sequence variations that occur when a single nucleotide in the genome sequence is altered. A variation in the genome sequence must occur in at least 1% of the population to be classified as a SNP. SNPs can occur in coding and noncoding regions of the genome and have no effect on cell function. Some scientists believe SNPs could predispose people to disease or influence their response to a drug. Variations in DNA sequence may have a major impact on how humans respond to disease, environmental factors and drugs and other therapies. SNPs can be followed easily in population studies since they do not change much from generation to generation
Several groups have worked to find SNPs and created SNP maps of the human genome. Among these were the U.S. Human Genome Project (HGP) and a large group of pharmaceutical companies called the SNP Consortium or TSC project. Scientists believe SNP maps will help them identify the multiple genes associated with cancer, diabetes, and vascular disease. SNP maps are helping to identify thousands of additional markers in the genome, simplifying navigation of the much larger genome map produced by HGP researchers.1
GWA studies have transformed the search for genetic influences on complex traits, in which hundreds of thousands of SNPs are tested for association with a disease in thousands of individuals. GWA studies have identified SNPs implicating more than hundreds of replicated loci for common diseases such as cancer and infectious diseases. A SNP in a DNA binding site may result in different gene expressions. A GWA study revealed a G-to-A substitution in the 5_ untranslated region of the FOXE1 gene to associate with thyroid cancer susceptibility. The T-to-C substitution located in the 5_-UTR of the GDF5 gene, leads to a reduced gene expression. Variation in opioid receptor genes may change the expression level or activity of opioid receptors, leading to increased risk for drug or alcohol dependence.2
Identifying and characterizing efficiently such genetic variants in a patient’s genotypic profile can allow for the individual modification of therapeutic intervention, drug selection and dose adaptation. The ultimate goal of personalized medicine is to optimize therapeutic response as well as drug safety, and improve clinical results for...