Cystic fibrosis (CF) is one of the most common genetic diseases, and the gene affected in CF was one of the first disease-associated genes to be cloned. However, we still know little about how the numerous mutations that cause CF actually affect the encoded protein and its activity.
DNA and Mutations: A case study of the effects of mutation: Sickle cell anemia. Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. The disease is caused by a mutated version of the gene that helps make hemoglobin — a protein that carries oxygen in red blood cells.
There are two types of point mutations: transition mutations and transversion mutations. Transition mutations occur when a pyrimidine base (i.e., thymine [T] or cytosine [C]) substitutes for another pyrimidine base or when a purine base (i.e., adenine [A] or guanine [G]) substitutes for another purine base.
Author information: (1)Department of Biology, St. Mary's College of Maryland, St. Mary's City 20686, USA. Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A, a ...