Specific change
A specific change is a change affecting a small number of nucleotides of DNA in or apart from a Gène which is not thus repaired which is permanent and stable.
There exist three types of specific changes:
-
Change by Substitution: replacement of one or a few pairs of nucleotides by another
- Change by Addition: addition of one or a few pairs of nucleotides
- Change by Délétion: loss of one or a few pairs of nucleotides
The change, to be expressed, must be a substitution by a nucleotide giving a Codon coding an Amino-acid different that the initial nucleotide, if not the change is known as quiet (without effect on the transcription out of protein, and its activity, if the sequence is a Gène).
The Thrombophilie by change of the factor V is an example of Genetic disease caused by a specific change. The change consists of a substitution for the level of nucleotide 1691 of a Guanine by a Adénine of gene of the factor V involving the synthesis of a factor (Facteur V Leiden) resistant to the inactivation by the Protéine C activated.
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