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the form of a genetic trait distinguishable at the genotypic level but not at the level of arbitrary phenotype (for example, clinical, immunologic, or electrophoretic).
A genetic mutation that does not result in a change of phenotype.
an alteration in a DNA sequence that does not result in an amino acid change in a polypeptide.
silent mutationA change in DNA that has no effect.
silent mutationa MUTATION that does not result in any change in the GENE product or PHENOTYPE of an ORGANISM, even though there has been a change in the DNA base sequence.
1. a nucleotide change, including base substitutions, insertions or deletions in DNA, or RNA in the case of some viruses, that gives rise to the mutant phenotype.
2. an animal exhibiting such change. Called also a sport.
see reverse mutation (below).
base substitution mutation
may be a transition in which a purine-pyrimidine pair is substituted by the other purine-pyrimidine pair, or transversion in which a purine-pyrimidine pair is replaced by one of the two pyrimidine pairs.
chain termination mutation
one in which the new base sequence introduces a stop codon and thereby prematurely terminates synthesis of the polypeptide; the three mutations are also called amber (UAG), ochre (UAA) and opal (UGA).
one produced by loss of nucleotides from a DNA sequence.
frame shift mutation
occur as a result of either the insertion of a new base pair or the deletion of a base pair or a block of base pairs from the DNA base sequence; these, unless they occur in 3 or multiples of 3, are most serious in that the message to the right of the frame shift is garbled.
one in which the amino acid substitution only partially disrupts the function of the protein; in bacteria this is usually manifested by reduced growth rate.
one causing an amino acid substitution in the protein.
one in which a stop codon is substituted for a codon that specifies an amino acid.
operator constitutive mutation
one or more base changes in the operator region (originally defined for the lactose operon) which stop the repressor protein from tightly binding to sequence such that it is less effective in preventing RNA polymerase from inhibiting transcription.
a single changed base pair in the DNA of an organism which may be a base substitution, base insertion or base deletion.
the frequency of mutations in the population over time.
in regulation of gene expression, a mutation in the repressor protein that decreases the binding affinity of the repressor protein for the operator which leaves the gene permanently turned on.
one in which the wild-type phenotype is restored; such organisms are called revertants. Called also back mutation, reversion mutation.
see suppressor mutation.
one in which there is a base change but because of the redundancy of the genetic code the same amino acid is coded, or one in which there is an amino acid substitution in the protein which has no detectable effect on the phenotype.
a change in the DNA sequence that occurs in somatic cells, i.e. not gametes. The mechanism underlying the generation of diversity of antigen recognition by immunoglobulins and T cell receptor molecules. The fundamental cause of cancer, in which the mutation occurs spontaneously or is induced by carcinogens, such as sunlight, chemicals or viruses.
a particular type of reversion mutation in which a mutation at a second site restores the original phenotype; most simply a mutation produced by a base deletion may be restored to wild type by a proximate but independent base substitution. Called also second-site mutation.
temperature-sensitive (ts) mutation
one in which there is an altered protein that is active at one temperature, typically 86°F (30°C) and inactive at a higher temperature, usually 104 to 108°F (40 to 42°C), e.g. ts mutant virus and bacteria.
occur in genes producing diffusible products, in contrast to cis-dominant mutation in which mutations occur in regulatory sequences that are recognized by other proteins.
one in which the base change does not change the pyrimidine-purine orientation. See also base substitution mutation (above).
one produced by the insertion of a transposable genetic element.
one in which the purine-pyrimidine orientation is changed to pyrimidine-purine or vice versa. See also base substitution mutation (above).