SNP Detection and Discovery

SNP Detection and Discovery

Recent scientific endeavors to sequence the genomes of mammals have shown 99.9% of one individuals DNA sequences will be identical to that of another of the same species. Of the 0.1% difference, unique genetic differences between individuals, over 80% will be single nucleotide polymorphisms (SNPs). A SNP is a single base substitution of one nucleotide with another. DNA is comprised of only four chemical entities, e.g. A, G, C, T, whose specific chemical order is the alphabet of the genome. An example of a SNP is individual "A" has a sequence GAACCT while individual "B" has sequence GAGCCT, the polymorphism is a A/G change.

Current estimates from the human genome work are that SNPs occur as frequently as every 100-300 bases. This implies in an entire human genome there are approximately 10 to 30 million potential SNPs.

SNPs and Diagnostics

Many common diseases in humans are not caused by one genetic variation within a single gene, but are determined by complex interactions among multiple genes, environmental and lifestyle factors. Genetic factors confer susceptibility or resistance to a disease and influence the severity or progression of disease. Since we do not yet know all of the factors involved in these intricate pathways, researchers have found it difficult to develop screening tests for most diseases and disorders, such as diabetes, many cardiovascular diseases, Alzheimer's disease, arthritis, to name just a few. By studying SNP profiles or haplotypes associated with a disease trait, researchers may begin to reveal relevant genes associated with a disease. Association study can detect and indicate which pattern is most likely associated with the disease-causing genes. Eventually, SNP profiles that are characteristic of a variety of diseases will be established.

CBI's SNP discovery and detection services include TaqMan analysis, DNA sequencing , and other molecular biology techniques. Call for a quote.

Commonwealth Biotechnologies, Inc. 601 Biotech Drive, Richmond, VA 23235 800-735-9224 (800-RELY-CBI) FAX: 804-648-2641 email: [email protected]