Human Genome Project

The DNA sequence represents a reference, not an exact match, for a geneticist to use as a guideline. It does not mean that every individual has the same exact sequence. Although there are also highly conserved regions (or regions that are the same between people) throughout the genome representing genes and regulatory regions important for controlling gene expression, there are also regions throughout the genome that are variable from person to person. In fact, although 99% of the genome is conserved, 1% is variable. This means that roughly 3,000,000 bases differ between individuals. These differences are significant because there are nucleotides that are variable called polymorphisms and are found in greater then 1% of the population. These single nucleotide polymorphisms (SNPs) have become very useful in the field of pharmacogenomics, or the area of research that involves understanding how an individual's genes affect the body's response to drugs. For example, it is particularly significant if an SNP occurs in a gene that encodes a protein important for metabolizing a certain pharmaceutical agent. The protein, in this case an enzyme, might function at a reduced rate if the SNP causes an alteration in conformation of the protein. A reduction in function might lead to adverse drug reactions for this individual because the enzyme is capable of metabolizing only a small amount of the drug. Therefore, knowing if a person has the SNP is important for determining the appropriate drug to use.