The holy grail of genomics is the search for single nucleotide polymorphisms (SNPs). These are DNA sequence variations that occur when a single nucleotide (A, T, C or G) in the genome sequence is altered. For example an SNP might change the DNA sequence AAGGCTAA to ATGGCTAA. SNPs occur in every 100 to 1,000 bases along the 3 billion-base human genome. SNPs can occur in both coding (gene) and noncoding regions of the genome. Many SNPs have no effect on cell function, but scientists believe others could predispose people to diseases or influence their response to a drug.
Variations in DNA sequence can have a major impact on how humans react to disease; environmental factors such as bacteria, viruses, toxins and chemicals; and drug therapies. This makes SNPs of great value for biomedical research and for developing pharmaceutical products or medical diagnostics. Scientists believe SNP maps will help them identify the multiple genes associated with such complex diseases as cancer, diabetes, vascular disease and some forms of mental illness.
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