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Types of Gene Mutation

Cystic Fibrosis
Cystic Fibrosis

Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat.

Deletions Remove Information From the Gene
Deletions Remove Information From the Gene

A deletion changes the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).

Insertion and Deletion
Insertion and Deletion

Insertions, deletions, ... What kinds of gene mutations are possible? Can a change in the number of genes affect health and development?

Sickle-Cell Anemia
Sickle-Cell Anemia

Sickle cell disease is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans.

Substitution
Substitution

Substitution mutation noun, plural: substitution mutations. (genetics) A small-scale mutation characterized by a substitution of one or few nucleotides of a gene. Mutation is a change in the nucleotide sequence of a gene or a chromosome. ...

Tay-Sachs
Tay-Sachs

Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers.

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