Mutation


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mutation

 [mu-ta´shun]
1. a permanent transmissible change in the genetic material.
2. an individual exhibiting such a change.
point mutation a mutation resulting from a change in a single base pair in the DNA molecule.
somatic mutation a genetic mutation occurring in a somatic cell, providing the basis for mosaicism.
suppressor mutation the correction of the effect of a mutation at one locus by a mutation at another locus.

mu·ta·tion

(myū-tā'shŭn),
1. A change in the chemistry of a gene that is perpetuated in subsequent divisions of the cell in which it occurs; a change in the sequence of base pairs in the chromosomal molecule.
2. De Vries, term for the sudden production of a species, as distinguished from variation.
[L. muto, pp. -atus, to change]

mutation

(myo͞o-tā′shən)
n.
1. The act or process of being altered or changed.
2. An alteration or change, as in nature, form, or quality.
3. Genetics
a. A change in the nucleotide sequence of the genome of an organism or virus, sometimes resulting in the appearance of a new character or trait not found in the parental type.
b. The process by which such a change occurs, either through an alteration in the nucleotide sequence coding for a gene or through a change in the physical arrangement of the genetic material.
c. The nucleotide sequence, trait, or individual that results from such a change.

mu·ta′tion·al adj.
mu·ta′tion·al·ly adv.

mutation

(1) The process by which genes undergo a permanent and heritable change in nucleotide sequence that differs from either parental haploid contribution to the progeny.
(2) A heritable change in a DNA sequence.

Mutations either occur spontaneously or result from environmental exposure to mutagenic agents (e.g., chemicals, radiation). Most mutations either have no effect, are deleterious, or are lethal; some provide survival benefits, which are passed on to progeny. 

Examples
Deletions, duplications, extranuclear changes, insertions, point mutations, rearrangements, tandem repeat amplifications, translocations.

mu·ta·tion

(myū-tā'shŭn)
1. A change in the chemistry of a gene that is perpetuated in subsequent divisions of the cell in which it occurs; a change in the sequence of base pairs in the chromosomal molecule.
2. The sudden production of a species, as distinguished from variation.
[L. muto, pp. -atus, to change]

mutation

Any persisting change in the genetic material (DNA) of a cell. Mutations most commonly involve a single gene but may affect a major part, or even the whole of, a chromosome or may change the number of chromosomes (genomic mutation). A nonsense mutation is one that alters the sequence of bases in a CODON so that no amino acid is coded. Many mutations have an unfavourable effect on the cell concerned and are not passed on, but non-lethal mutations are replicated in daughter cells. Mutation in a cell in the GONADS that gives rise to a SPERMATOZOON or an egg (OVUM), will be passed on to a clone of sperms or eggs and one of these may take part in fertilization so that the mutation is passed on to every cell in the body of the future individual, including the GERM CELLS. New mutations occurring in the sex cells (germ line mutations) may thus lead to hereditary abnormalities. Mutations in body cells (somatic mutations) cannot do this but can cause cloned abnormalities including cancers. See also FRAME SHIFT MUTATION, INSERTION MUTATION, INVERSION MUTATION, LEAKY MUTATION, LETHAL MUTATION, MISSENSE MUTATION, POINT MUTATION, NONSENSE MUTATION.

mutation

a change in the genetic material of an organism. In eukaryotes, if the alteration affects gametic cells the change is a genetic mutation and can be inherited; if body cells (nonsexual) are affected the mutation is called somatic mutation and will not normally be inherited. Mutations that result in alterations to a gene produce a different ALLELE. Mutation can also affect the number of chromosomes. See also SPONTANEOUS MUTATION, INDUCED MUTATION, CHROMOSOMAL MUTATION.

Mutation

A permanent change in the genetic material that may alter a trait or characteristic of an individual, or manifest as disease, and can be transmitted to offspring.

mutation

A permanent transmissible change in the nucleotide sequence of the DNA within a gene, or a change in the physical structure of a chromosome. It can occur by substitution (one base or nucleotide is replaced by another), transition (a purine (adenine or guanine) is replaced by another purine or one pyrimidine (cytosine or thymine) is replaced by another pyrimidine), transversion (a pyrimidine is replaced by a purine or vice versa), deletion or insertion of one or more bases. Mutations can also occur in a chromosome as a result of inversion (a segment of chromosome is inserted in reverse order), deletion (a loss of a piece of chromosome) or translocation (a piece of chromosome attaches to another). Mutations result in the formation of a protein with an abnormal amino acid or an absence of the protein and these may result in disease but some mutations may be beneficial. Mutations may be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation (X-rays, gamma rays), carcinogens, viruses, or spontaneously. See chromosome; gene.

mu·ta·tion

(myū-tā'shŭn)
Change in gene chemistry perpetuated in subsequent divisions of cell in which it occurs.
[L. muto, pp. -atus, to change]
References in periodicals archive ?
Girirajan explained, "For example, when a parent and child have the same primary mutation but only the child develops the disorder.
Some primary mutations may sensitise an individual to a lesser degree, requiring large numbers of mutations in the genetic background to produce symptoms associated with the disorder.
In three cases of exon 21 mutations, one case had P848L mutations for erlotinib, and the longest PFS of 26 months was observed.
Resistance in these strains suggests mutation in other genes that confer resistance to INH but not target in LPA.
Novel mutations 754delT and GGTGGCdel/TTG ins: The novel mutation 754delT was discovered in exon 13 of the CFTR gene.
The highly polymorphic Y-STR locus DYS385 was observed to have a higher mutation rate compared to all other Y-STRs loci analyzed (Table 2).
At first, mutation of the present parent was evaluated; if it was negative or it was incompatible with the offspring mutation or the patient had more than one mutation, the other parent was also assessed.
The analysis predicted the ramifications of genetic mutations in parts of the genome that do not encode proteins, regions often mischaracterized as 'junk' DNA.
Mutation of NPM1 and FLT3 Genes in Acute Myeloid Leukemia and Their Association with Clinical and Immunophenotypic Features.
Rather, the location of the mutations in the DNA is relevant.
Moreover, 14(25%) rifampicin-resistant isolates were randomly selected and analysed for mutation in rpoB gene.