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.
References in periodicals archive ?
It was also necessary to detect deletion mutations within a large amount of wild-type DNA because random mutations occur at a low frequency in the gene of interest.
The deletion mutation of porcine TIAF1 gene, which was found in its exon, causes deletion of two amino acids, which might alter the protein structure and lead to functional variation such as the interaction with TGF[beta]1.
A very large scale deletion mutation in human peripheral blood cells mitochondrial DNA.
These viruses have a characteristic deletion mutation in the HA molecule at residue 134.
Identifcation of missense, nonsense and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).
As shown in Table S2 in the online Data Supplement, all point mutations and all deletion mutations were found to be stable.
However, in either case, a single-base substitution in the sample generates a very slight conformational difference in the heteroduplex that is typically more difficult to resolve by conventional electrophoretic methods than an insertion or a deletion mutation, especially when using HDA (1).
A large deletion mutation in the CFTR gene (3120+1 kbdel8.6 kb): a founder mutation in the Palestinian Arabs.
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.
In conclusion, we propose that the deletion mutation of exons 9-12 of the LDL-receptor gene is the most frequent deletion type in Korean FH patients and that the fragment 2 region may be used as the primary screening target to detect for large rearrangements of the LDL-receptor gene in Korean FH patients because all large deletions have been detected in fragment 2.
We analyzed 53 individuals diminished in serum BCHE activity, and found 10 mutations containing five novel mutations (four missense mutations and one deletion mutation) in 31 individuals (Table 4).