mutation

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Related to De novo mutation: back mutation, conditional mutant
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  • noun

Synonyms for mutation

Synonyms for mutation

the process or result of making or becoming different

the process or result of changing from one appearance, state, or phase to another

Synonyms for mutation

(biology) an organism that has characteristics resulting from chromosomal alteration

a change or alteration in form or qualities

References in periodicals archive ?
As more families participated in the research, and as technologies for identifying mutations improved, this body of work painted a new picture of the genetics of autism (indeed, the genetics of neurocognitive disorders more generally), confirming that de novo mutations and copy number variations account for many cases of the disorder.
Although the de novo mutation is quite common in BMD/DMD patients,[sup][8] it is rarely reported in the female carriers.
At the opposite end of the spectrum are de novo mutations that cause profoundly severe epileptic encephalopathies in early childhood.
Thus, the occurrence of somatic de novo mutation is so rare that it is not easily observed, especially in exonic regions, which account for only 1-2% of the genome.
In family C, no dosage change is apparent in the mother; therefore, de novo mutation can be deduced.
We propose that only those with one mutation be retested biochemically; this would catch cases of CYP21 deficiency that involve a rare or de novo mutation that this genetic assay cannot detect.
Hemizygosity of the region containing the G365R site resulting from a large deletion, an inversion, uniparental disomy (genomic imprinting), or a de novo mutation may explain the pedigree.
The proband was known to manifest CAH as a result of the inheritance of an exon 8 codon 316 (arginine-stop) mutation of CYP21 (9) from the father and a maternally derived de novo mutation that led to the deletion of CYP21 (data not shown) (10-12).
A de novo mutation in the coding sequence for neurophysin II (Pro24-Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
In the three of the six positive cases in which parental blood samples were available, single bands were present in both parents, indicating the presence of a de novo mutation in the child (Fig.
This establishes a final common pathway for analysis of de novo mutation at any CpG site, which we term CpG-PCR.
M2 PHARMA-February 14, 2018-Study Suggests Autism Due to De Novo Mutations Exhibits Greater Reduction in Cognitive Function and Motor Skills than Autism Due to Inherited Factors