mutation

mutation Definition

mu·ta·tion (myo̵̅o̅ tā′s̸hən)

noun

a changing or being changed
a change, as in form, nature, qualities, etc.
Biol.
1. a sudden variation in some inheritable characteristic in a germ cell of an individual animal or plant, as distinguished from a variation resulting from generations of gradual change
2. an individual resulting from such variation; mutant
3. an abrupt and relatively permanent change in somatic cells that is transmitted only to daughter cells and can be inherited only in plants that reproduce asexually
Linguis.
1. umlaut (sense )
2. alternation of consonants under specific conditions, as in variations in the initial consonant of a word in Irish and other Celtic languages

Etymology: ME mutacioun < OFr mutacion < L mutatio < mutare, to change: see miss

mutation Related Forms

mu·ta′·tional adjective mu·ta′·tion·ally adverb

mutation Synonyms

mutation Usage Examples

Converse of object

inherit: Not everyone who has inherited a genetic mutation for Gaucher disease from both parents has symptoms.
attenuating: The attenuating mutation at residue 91 in VP3 is shown in cyan, and all suppressor mutations are shown in white.
truncate: Milder disease was observed in some cases carrying missense mutations as compared with those carrying truncating mutations.
induce: More recently, I have been involved in the detailed determination of gene function through induced mutation of the genes encoding renin.

Preposition: in

exon: No point mutation in exons 20 to 24 and their flanking introns were found in any of the 35 patients.
gene: A mutation in a patterning gene could give rise to a simple heart defect, not a full scale patterning defect.

Adjective modifier

somatic: These genes are often screened for somatic mutations only in the region most likely to contain mutations.
brca2: Comment: The clinical relevance of this paper is unclear, as no-one is currently proposing population screening for BRCA1 and BRCA2 mutations.
genetic: However a gap remained between linking a genetic mutation to the outcome of the disease.
brca1: That is, women with negative results for BRCA1 mutation are still at risk of cancer.
missense: This project addresses how missense mutations are analyzed before an interpreted report is issued.
deleterious: High frequency of cryptic deleterious mutations in Caenorhabditis elegans.

Modifies a noun

assay: Negative results are available for a gene mutation assay in Salmonella.
carrier: Should cancers in mutation carriers be managed differently from sporadic cases?

Noun used with modifier

missense: Missense mutation analysis This project is investigating the application of bioinformatic tools to determine the pathogenicity of unclassified missense mutations.
p53: The survival rate in the 24 patients with p53 mutation did not differ significantly from that in the 16 patients without p53 mutation.
germline: Many members of Li-Fraumeni families have a germline mutation of the TP53 gene.
frameshift: It was not able to induce point and frameshift mutations in haploid Saccharomyces cerevisiae cells.
gene: Importantly, in rare families, a gene mutation has been shown to cause the abnormal build up of tau protein in the brain.
mtdna: By contrast, a woman with a heteroplasmic mtDNA mutation, may transmit a variable amount of mutated mtDNA to her children.

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