deletion mutation


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Related to deletion mutation: Insertion mutation, inversion mutation

read·ing-·frame·shift mu·ta·tion

a mutation that results from insertion or deletion of a single nucleotide into, or from, the normal DNA sequence; because the genetic code is read three nucleotides at a time, all nucleotide triplets distal to the mutation will be one step out of phase and misread, and hence translated as different amino acids.

deletion mutation

a type of MUTATION in which genetic material is removed from chromosomes or other DNA molecules (see CHROMOSOMAL MUTATION, POINT MUTATION). The deletion can be as small as a single DNA base (which can cause a misreading of the base sequence during PROTEIN SYNTHESIS, see FRAMESHIFT) to a large tract of DNA containing many GENES.

mutation

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.

back mutation
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).
deletion mutation
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.
leaky mutation
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.
mis-sense mutation
one causing an amino acid substitution in the protein.
nonsense mutation
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.
point mutation
a single changed base pair in the DNA of an organism which may be a base substitution, base insertion or base deletion.
mutation rate
the frequency of mutations in the population over time.
repressor-constitutive mutation
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.
reverse mutation
one in which the wild-type phenotype is restored; such organisms are called revertants. Called also back mutation, reversion mutation.
second-site mutation
see suppressor mutation.
silent 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.
somatic mutation
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.
suppressor mutation
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.
transdominant mutation
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.
transition mutation
one in which the base change does not change the pyrimidine-purine orientation. See also base substitution mutation (above).
transposition mutation
one produced by the insertion of a transposable genetic element.
transversion mutation
one in which the purine-pyrimidine orientation is changed to pyrimidine-purine or vice versa. See also base substitution mutation (above).
References in periodicals archive ?
Allele frequencies for the deletion mutation of the TIAF1 gene in four pig populations Genotype Breeds Number AA AB BB Bamei 46 30 11 5 Meishan 40 35 3 2 Landrace 44 0 0 44 Large White 30 2 11 17 Allele frequency Breeds A B Bamei 0.
Overall, deletion mutations were 3-4 times more common than duplications in all ethnic groups, and complex rearrangements and small mutations were rare.
While the reported detection rate for deletion mutations in the international literature is over 60%, in our laboratory lower detection rates have been found, irrespective of the molecular technique used for testing.
MET exon 14 deletion mutations and MET amplification were recently identified in a significant number of patients with lung adenocarcinoma in The Cancer Genome Altas consortium project (TCGA-2014a).
Another 20mer oligonucleotide probe, 2Del-F, was synthesized to anneal the region that contained the 2-bp deletion mutation inside, and was labeled at the 3' end with fluorescein.
For fluorescence PCR analysis of the 9-bp deletion, we prepared two PCR primers (9Del-AS and 9Del-AS; Table 1), and three templates; two were the reverse transcription products of the total RNA isolated from the liver of a patient with CPS1 deficiency and a patient with ornithine transcarbamoylase deficiency (as a control); a plasmid containing the homozygous 9-bp deletion mutation was used.
In a previous report from our laboratory (20), we detected two large deletion mutations by Southern-blot hybridization; FH29 (deletion of exons 7 and 8), and FH110 and FH33 (deletion of exons 9-12).
To date, >30 different large deletion mutations of the LDL-receptor gene have been described, and most of them were detected by Southern-blot hybridization.
These results indicated that chrysotile asbestos were able to produce deletion mutations in gpt delta transgenic mutation assay system.
Gpt delta transgenic mouse: a novel approach for molecular dissection of deletion mutations in vivo.
Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler.
Deletion mutations of the juxtamembrane domain of the KIT protooncogene, which encodes a tyrosine kinase receptor, have been associated with malignant behavior of gastrointestinal stromal/smooth muscle tumors (GISTs) (1-5).