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.

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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.

A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease

As noted earlier, this is the case in studies of somatic point mutations when the wild-type ssDNA is a majority component.

Hybridization isotherms of DNA microarrays and the quantification of mutation studies

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}

Evaluation of Three Small Molecular Drugs for Targeted Therapy to Treat Nonsmall Cell Lung Cancer

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.

Denaturing-HPLC-based assay for detection of ABL mutations in chronic myeloid leukemia patients resistant to imatinib

Rapid detection of point mutations and polymorphisms of the [alpha]-globin genes by DGGE and SSCA.

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing [alpha]-Thalassemias

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).

Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach

The macroscopic observation of the incisors of the mice with the point mutation showed a white opaque enamel surface (Fig.

Immunohistochemical Study of Amelogenin Binding Proteins in an Amelogenin Point Mutation Mouse/Estudio Inmunohistoquimico de Proteinas de Union de la Amelogenina en un Raton con Mutacion Puntual de Amelogenina

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.

Jak 2 and Stat Proteins; a Mini Review

This point mutation changed the lysine residue to threonine in its polypeptide chain of amino acid (Table 3).

SINGLE NUCLEOTIDE SOMATIC VARIANTS OF Tp53 GENE IN WIDESPREAD NEOPLASMS OF CANIS FAMILIARIS

Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation (in Chinese).

Reply to 'Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers'

Reliable detection of a point mutation in a GC-rich region of the CEBPA gene.

New applications for NGS

In MELAS 23 point mutations of mtDNA (>80% MTTL1 gene) (m 3243A>G) and one 4 base pair deletion have been identified.

SIDEROBLASTIC ANAEMIA AS A DIAGNOSTIC FILCH POINT OF MELAS (MYOENCEPHALOPATHY, LACTIC ACIDOSIS and STROKE LIKE EPISODES)