Catalogue of the Library of the Surgeon General's Office, United States Army, Volume III

History

(U.S., National Library of Medicine

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A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes. Gene mutations can be classified in two major ways: • Hereditary mutations are inherited from a parent and are present throughout a person’s life in virtually every cell in the body. These mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells. • Acquired (or somatic) mutations occur at some time during a person’s life and are present only in certain cells, not in every cell in the body. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed on to the next generation.

Help Me Understand Genetics: Mutations and Health

Science & Math

National Institutes of Health

Lister Hill National Center for Biomedical Communications

Evolution

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Cells and DNA - Cells, genes, and chromosomes  Mutations and Health - Gene mutations, chromosomal changes, and conditions that run in families  How Genes Work - Proteins, cell growth, and cell division  Gene Families - Groups of genes that share important characteristics  Inheriting Genetic Conditions - Inheritance patterns and understanding risk  Genetics and Human Traits - How genes influence various human characteristics  Genetic Consultation - Finding and visiting a genetic counselor or other genetics professional  Genetic Testing - Benefits, costs, risks, and limitations of genetic testing  Newborn Screening - Testing all babies in their first days of life for certain disorders and conditions  Gene Therapy - Experimental techniques, safety, ethics, and availability  The Human Genome Project - Sequencing and understanding the human genome  Genomic Research - Next steps in studying the human genome  Precision Medicine - Disease treatment and prevention strategies tailored to variability in genes, environment, and lifestyle

Help Me Understand Genetics

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