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Types of Point Mutations

Cystic Fibrosis
Cystic Fibrosis

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.

Insertion and Deletion
Insertion and Deletion

This lesson covers the basics of point mutations and ... An insertion is a point mutation in which one or ... A deletion is a point mutation in which one or ...

source: study.com
Sickle-Cell Anemia
Sickle-Cell Anemia

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.

Substitution
Substitution

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.

Tay-Sachs
Tay-Sachs

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 ...

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