Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Mutation is an older term that is still sometimes used to mean pathogenic variant.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. Mutation is an older term that is still sometimes used to mean pathogenic variant. Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus)Īutosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Sources to Learn More: What Is a Gene? (MedlinePlus) What Are Proteins and What Do They Do? (MedlinePlus) Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Understanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease.
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