BIOLOGY: RESOURCES: Genetics

Single Gene Disorders
Some disorders result when a mutation causes the product of a single gene to be altered or missing. An example of this kind of disorder is sickle-cell anemia. Mutations in the beta-globin gene cause blood cells to become distorted and take on a sickle shape. When the cells have this distorted shape, they can't travel through the blood vessels easily and get clogged in the narrow passages. A normal blood cell is round, kind of shaped like a donut without the hole cut completely through.

EXAMPLES: SICKLE CELL ANEMIA. MARFAN SYNDROME, CYSTIC FIBROSIS, Duchenne Muscular Dystrophy

FROM: http://gslc.genetics.utah.edu/disorders/definition/index.html