Home > Encyclopedia of Genetic Disorders > Gene mutations

In a strict sense, mutations are changes in genes not caused by genetic recombination. A change in the base sequence of DNA, for example, represents a mutational change. Spontaneous mutations are mutations that occur at a given frequency without the need for an inducing agent of change (mutagenic agent). The term mutation is also used in a less technical sense to describe changes in the human genome (i.e., evolution) that result from a broad spectrum of processes that act to increase or decrease genetic variation within a population.

By definition, a gene is a hereditary unit that carries information used to construct proteins via the processes of transcription and translation. The human gene pool is the...