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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.
Indicators
This gene is involved in transcriptional regulation and plays a role in the mediation of DNA-protein interactions.
Indicators
An antimetabolite and antifolate agent with antineoplastic and immunosuppressant activities. Methotrexate binds to and inhibits the enzyme dihydrofolate reductase, resulting in inhibition of purine nucleotide and thymidylate synthesis and, subsequently, inhibition of DNA and RNA syntheses. Methotrexate also exhibits potent immunosuppressant activity although the mechanism(s) of actions is unclear.
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.
Indicators
This gene plays a role in DNA mismatch repair.
Tests
The determination of the molluscum contagiosum virus DNA in a sample.
Tests
The determination of the amount of Moraxella catarrhalis DNA in a biological sample.
Indicators
This gene plays a role in DNA mismatch repair mutations in the gene result in hereditary nonpolyposis colorectal cancer-1.
Indicators
Direct molecular detection of Mycobacterium tuberculosis complex in respiratory specimens.
Tests
An MTHFR gene test checks a sample of your blood for two very common changes in a gene called MTHFR . Changes in your genes are also called gene variants or mutations.
