Glossary Term
Microsatellite Instability
Genomic instability associated with the presence of hypermutability in specific genetic marker regions resulting from defective DNA mismatch repair.
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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.
Indicadores
This gene plays a role in DNA mismatch repair.
Indicadores
This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1.
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.
Indicadores
This gene plays a role in the repair of oxidative DNA damage.
Indicadores
This gene plays a role in DNA repair and cell cycle checkpoints.
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.
Glossary Term
A DNA polymer made up of a small number of nucleotides.