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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.
Glossary Term
Short DNA oligonucleotide chains used to prime DNA (and in some cases RNA) synthesis.
Article
Research record from Int J Dermatol, 2026-07-18. PMID 42470253.
Indicators
This gene may play a role in the repair of DNA damage that is resolved by recombination.
Tests
Pharmacogenetics (also called pharmacogenomics ) is the study of how your genes affect the way your body responds to certain medicines . Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works.
Glossary Term
A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.
Indicators
This gene is involved in DNA replication and proofreading.
Indicators
This gene is involved in both DNA replication and DNA base-excision repair.
Tests
Prenatal cell-free DNA (cfDNA) screening is a blood test given during pregnancy . During pregnancy, some of the fetus's DNA circulates in the mother's bloodstream. A cfDNA screening checks this DNA to find out if the baby is more likely to have certain conditions caused by an abnormal number of chromosomes , such as Down syndrome .
