What is a Gene?
A gene is the basic physical and functional unit of heredity.
Genes are made up of DNA. Some genes act as instructions to make molecules called proteins.
Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes are slightly different between people. These small differences contribute to each person’s unique physical features.
Scientists keep track of genes by giving them unique names. Because gene names can be long, genes are also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent an abbreviated version of the gene name.
What is Gene Mutation?
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.
By tailoring recommendations to each person’s DNA, health care professionals can work with individuals to focus efforts on specific strategies that are most likely to maintain health for that particular individual, and in some cases their family as well.
Genetic disorders are caused by the mutation of a gene. Gene mutations can be classified in two major ways:
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 an error is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed to the next generation.
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.