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A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.cquired (or somatic) mutations occur at some time during a personâs life and are present only in certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division.
There are two main forms of mutations associated with prion disease: point changes (i.e. single nucleotide substitutions or transversions) which cause an amino acid change (missense mutation) or less commonly cause the coding to prematurely terminate (stop or nonsense mutation).here are two main forms of mutations associated with prion disease: point changes (i.e. single nucleotide substitutions or transversions) which cause an amino acid change (missense mutation) or less commonly cause the coding to prematurely terminate (stop or nonsense mutation).