Genetic mutations and conditions (CCEA)Page 1

Sex is controlled in humans by the X and Y chromosomes. Genetic screening involves testing people or groups of people for the presence of a particular allele or other genetic abnormality.

Part ofCombined ScienceGenetics

Cancer

Cancer cells are produced by uncontrolled cell division.

Some variations in living organisms are due to mutations.

A mutation is a random change in the structure or number of or .

These can be triggered by environmental factors.

For example, UV light can cause skin cancer.

People sunbathing on a beach
Image caption,
Too much UV radiation from the Sun or sunbeds can cause mutations in the skin that can lead to skin cancer. This is preventable by spending less time in the sun and using sunscreen.

Genetic conditions

Some genetic conditions are inherited – passed from parent to child.

Genetic conditions are caused by mutations.

Cystic fibrosis and Down’s syndrome are both genetic conditions.

Cystic fibrosis is caused by a gene mutation.

Down’s Syndrome is caused by a change in the chromosome number.

People with Down’s Syndrome have 47 chromosomes rather than 46.