Mutation
| Definition: |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
| Notes: |
drug-induced mutation = MUTATION (IM) + specific drug with pertinent qualif (IM); radiation-induced mutation = MUTATION (IM) + RADIATION EFFECTS or specific rad term (IM); /drug eff & /rad eff permitted only for eff of drugs or eff of rad on an already mu |
Mutation Categories.
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Allelic Imbalance - A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. |
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Base Pair Mismatch - The presence of an uncomplementary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES). |
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Frameshift Mutation - A type of mutation in which a number of nucleotides not divisible by three is deleted from or inserted into a coding sequence, thereby causing an alteration in the reading frame of the entire sequence downstream of the mutation. These mutations may be induced by certain types of mutagens or may occur spontaneously. |
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Germ-Line Mutation - Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. |
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Mutation, Missense - A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) |
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Point Mutation - A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. |
Mutation Definitions and Terms
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