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What is the relationship between DNA mutations and genetic conditions?

A genetic disease or condition is caused by one or more gene changes, which scientists refer to as mutations. A mutation is a permanent change in the DNA code that makes up a gene. Mutations that can be passed on to children are usually inherited from a parent, but some happen for unknown reasons during foetal development. This type of inherited mutation is called a germ line mutation. Mutations also build up in a person’s DNA over their life time (for example, DNA damage due to sun exposure). These mutations are not passed on to children and are called somatic mutations.

Changes to the DNA code do not always lead to health problems. Some mutations occur in regions of the chromosome that do not encode genes. These mutations do not affect the function of genes, but can be used in research studies (for example, genetic association studies).

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