Mutation

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Related to De novo mutation: back mutation, conditional mutant

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
It was quite another to suggest that de novo mutations played a major role in diseases that develop early in life.
Buxbaum added that people have been focusing on de novo mutations, such as the ones that can occur in the sperm of an older father, they have found that mutations are also key contributors, it is important to know that there is underlying risk in the family genetic architecture itself.
And then there are de novo mutations that cause profoundly severe epileptic encephalopathies in early childhood.
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
The most probable reason for this is a de novo mutation in the proband.
It is possible that a de novo mutation of the gene, rather than a paternal meiotic nondysjunction was present in our patient.
While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers.
Berkovic's group also revealed that the de novo mutation in the SCNl A gene found in 80% of individuals with Dravet syndrome likely occurs as early as the two-cell stage of embryonic development, since the mutation was present in a variety of tissue samples - lymphocytes, hair, buccal cells, and neuronal cells of one twin and not the other in studied pairs.
Most affected individuals have inherited the mutation from one of their parents, but rarely it can be caused by a de novo mutation.