point mutation


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Related to point mutation: Insertion mutation, Deletion mutation

point mutation

[′pȯint myü′tā·shən]
(genetics)
Mutation of a single gene due to addition, loss, replacement, or change of sequence in one or more base pairs of the deoxyribonucleic acid of that gene.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The pathogenic predictions for the point mutations c.655A>G and c.1448T>C were made by Mutation Taster (http://www.mutationtaster.org), which indicated that it was a clear mutation type and that both were disease causing.
As noted earlier, this is the case in studies of somatic point mutations when the wild-type ssDNA is a majority component.
Among all the 88 tested kinases [Table 1], icotinib [sup][18] inhibits only a few mutants, including deletions in Exon 19 and point mutations in Exon 21 such as L858R and the less-frequent L861Q, which indicates a high selectivity.{Table 1}
Because point mutations affecting critical sites within the ABL kinase domain seem to be one of the most frequent mechanisms of resistance (with frequencies ranging from 26% to 90% depending on the phase of the disease) (4-11), mutational screening of patients undergoing Imatinib treatment, especially those considered at higher risk of developing resistance--i.e., patients with longer duration of CML before initiation of Imatinib therapy and patients who fail to achieve a MCgR in the first 6 months of therapy (21)--should routinely be performed to help decision-making on dose escalation or alternative treatment options.
Rapid detection of point mutations and polymorphisms of the [alpha]-globin genes by DGGE and SSCA.
The method could allow simultaneous quantification of total mtDNA genome content in addition to detection and quantification of point mutations. Using this method, we have recently demonstrated the compensatory amplification of mtDNA in a mildly affected patient who harbored 92% deletion mutant mtDNA (18).
All triggering factors such as point mutations, deletions and/or insertions in Jak2 gene result in myelo-proliferative neoplasms that can further progress into leukemias and myelodysplastic syndromes.
This point mutation changed the lysine residue to threonine in its polypeptide chain of amino acid (Table 3).
Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation (in Chinese).
Reliable detection of a point mutation in a GC-rich region of the CEBPA gene.
In MELAS 23 point mutations of mtDNA (>80% MTTL1 gene) (m 3243A>G) and one 4 base pair deletion have been identified.