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Glossary Term
An isomer of propyl alcohol with antibacterial properties. Although the exact mechanism of isopropanol's disinfecting action is not known, it might kill cells by denaturing cell proteins and DNA, interfering with cellular metabolism, and dissolving cell lipo-protein membranes. Isopropanol is used in soaps and lotions as an antiseptic.
Glossary Term
Major class of enzymes that catalyze the linking together of two molecules (EC class 6) for example DNA ligases that link two fragments of DNA by forming a phosphodiester bond.
Glossary Term
A molecule of RNA 200-17000 nucleotides in length that is transcribed by non-protein coding areas of DNA. These ribonucleotides may play a role in a variety of biological processes.
Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Glossary Term
A sequence of single-stranded RNA, that is 20-25 nucleotides in length, which is transcribed from DNA but is not translated into a protein. This nucleic acid may regulate the transcription or translation of other genes.
Glossary Term
Genomic instability associated with the presence of hypermutability in specific genetic marker regions resulting from defective DNA mismatch repair.
Glossary Term
The mismatch repair (MMR) system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. This function is critically dependent on the assembly of multimeric complexes involved in mismatch recognition and signal transduction to downstream repair events.
Glossary Term
Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.
Glossary Term
Technologies that facilitate the rapid determination of the nucleotide sequence of large numbers of strands or segments of DNA or RNA.
Glossary Term
The sample-preparation stage that lyses cells or virions and purifies DNA/RNA before amplification. Extraction quality (yield, purity, inhibitors removed) often limits assay performance more than the PCR itself, and it defines required instruments and hands-on time in a workflow.
Glossary Term
A subunit of DNA or RNA consisting of a nitrogenous base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA and ribose in RNA).
Glossary Term
Nucleotide Excision Repair (NER) mends DNA regions that contain chemical adducts, such as UV-induced thymine dimers or carcinogenic adducts, which distort the DNA helix and interfere with replication and transcription. NER is targeted to actively transcribed regions of the genome. During NER in eukaryotes, shape irregularities are detected by protein complexes that slide along the DNA molecule and induce cuts on each side of a lesion several nucleotides away. Removal of the damaged 25-30 nucleotide fragment is followed by repair synthesis and ligation.
