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Image: Effects of DNA Sequence Variation

U.S. Department of Energy Office of Biological and Environmental Research

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Effects of DNA Sequence Variation

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Each DNA molecule contains many genes--the basic physical and functional units of heredity. A gene is a specific sequence of nucleotide bases, whose sequences carry the information required for constructing proteins, which provide the structural components of cells and tissues as well as enzymes for essential biochemical reactions. The human genome is estimated to comprise more than 25,000 genes. All living organisms are composed largely of proteins--which are coded for by genes. Proteins are large, complex molecules made up of long chains of subunits called amino acids. Twenty different kinds of amino acids are usually found in proteins. Within the gene, each specific sequence of three DNA bases (codons) directs the cells protein-synthesizing machinery to add specific amino acids. For example, the base sequence ATG codes for the amino acid methionine. Since 3 bases code for 1 amino acid, the protein coded by an average-sized gene (3000 bp) will contain 1000 amino acids. The DNA code is thus a series of codons that specify which amino acids are required to make up specific proteins. Some variations in a person's genetic code will have no effect on the protein that is produced, others can lead to disease or an increased susceptibility to a disease.

Credit or Source: Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science.

Prepared by the Biological and Environmental Research Information System, Oak Ridge National Laboratory, and