Glossary Term
Inversion
The act of turning inside out, upside down, or end-for-end.
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Glossary Term
The act of turning inside out, upside down, or end-for-end.
Glossary Term
Any hybrid gene formed from two previously separate genes. Such fusions occur as a result of translocation, intersititial deletion or chromosomal inversion, and often result in gene products with functions different from the two fusion partners. Gene fusions are associated frequently with hematological cancers, sarcomas and prostate cancer.
Indicators
Complement component C7 (843 aa, ~94 kDa) is encoded by the human C7 gene. This protein is involved in insertion of the membrane attack complex in lipid bilayers.
Article
Research record from Diagnostics (Basel), 2026-04-20. PMID 42072850.
Article
Research record from J Mol Diagn, 2026-04-22. PMID 42031332.
Glossary Term
The process of exchange of genetic material between autonomous replicons, which depends on regions of extensive sequence homology between the participating DNA strands. This process involves double-strand breakage of one participant, resection of the break, and strand invasion, followed by formation, displacement and resolution of the Holliday junction. This process is involved in repairing broken DNA and creating combinations of genes that may be unique from the parent duplexes. Disruptions in this process can result in inviability, premature aging and predisposition to cancers and degenerative diseases.
Glossary Term
A mutation class that includes insertion mutations, deletion mutations and mutation events where both an insertion and a deletion has occurred.
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 mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.