How does a gene cause an inherited disease?
Quick Answer
A disease gene usually works by changing a protein or its regulation, which disrupts normal body function. The effect depends on whether the gene variant is dominant, recessive, or linked to the sex chromosomes.
The Full Story
Inherited diseases occur when a harmful variant alters the function or amount of a gene product. Some disorders appear when one altered copy is enough to cause symptoms, while others require two altered copies. Examples include cystic fibrosis, which is usually recessive, and Huntington’s disease, which is dominant. Whether a mutation causes disease can depend on the exact gene, the body system involved, and other genetic and environmental factors.
Key Facts
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