Glossary Term
Gene Deletion
A deletion that results in the loss of a DNA segment encompassing an entire gene sequence.
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Glossary Term
A deletion that results in the loss of a DNA segment encompassing an entire gene sequence.
Glossary Term
Elimination, especially by blotting out, cutting out, or erasing.
Artículo
Research record from J Mol Diagn, 2026-04-22. PMID 42031332.
Technology
The treatment of chromosomes to reveal characteristic patterns of horizontal bands. The banding patterns lend each chromosome a distinctive appearance so the 22 pairs of human non-sex chromosomes and the X and Y chromosomes can be identified and distinguished without ambiguity. Banding also permits the recognition of chromosome deletions (lost segments), chromosome duplications (surplus segments) and other types of structural rearrangements of chromosomes.
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.
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.
Pruebas
A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN . Changes in your genes are also called gene variants or mutations.