Loss of function mutation

A loss-of-function mutation results in a functionless gene product. For example, an enzyme that has been produced can no longer perform its enzymatic activity. Sickle cell anemia or cystic fibrosis are examples of loss-of-function mutations.

A mutation is a permanent change in the genetic material. The following types of mutation are distinguished: gene mutation, chromosome mutation, genome mutation. Mutations can occur spontaneously e.g. during DNA replication or meiosis. Mutation can also be induced e.g. by mutagens. Induced mutation: Factors outside the cell (mutagens), can also cause mutations. These are, for example, high-energy radiation, such as X-rays or UV radiation, as well as certain chemical compounds or special viruses. The following inheritance patterns are known:

• Somatic mutation (confined to body cells only).
• Germline mutations (the mutation is passed on to offspring).

Mutations are divided into the following forms:

• silent mutation
• neutral mutation
• loss-of-function mutation
• gain-of-function mutation
• conditional mutation
• lethal mutation