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
A variety of simple di-, tri-, tetra-, and pentanucleotide tandem repeats that are dispersed in the euchromatic arms of most chromosomes.
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
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
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
A control sample where a negative result is expected, to help correlate a positive result with the variable being tested.
Glossary Term
Polymerase chain reaction that uses two sets of primers, in two sequential runs of amplification, with the second set intended to amplify a target within the first run product.
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Technologies that facilitate the rapid determination of the nucleotide sequence of large numbers of strands or segments of DNA or RNA.
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A reaction that contains all reagents except sample nucleic acid. Amplification in the NTC signals contamination of reagents or the environment, so NTC behavior is one of the first run-validity checks in any qPCR run log.
Glossary Term
Any part of a signal that is not the true or original signal but is introduced by the communication mechanism.
Glossary Term
A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
Glossary Term
A family of probability density functions whose mean, median and mode are identical. The function generates a symmetrical curve, whose position and shape is determined by its location and scale parameters, the mean and standard deviation respectively. The standard normal distribution has a location parameter of 0 and a scale parameter of 1.