Talking Glossary of Genetic Terms
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. "Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. "Dominant" means that a single copy of the disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease. Huntington's disease is a common example of an autosomal dominant genetic disorder.
Autosomal dominant refers to how a particular trait is inherited. The word autosome refers to the non-sex chromosomes. In humans, those are Chromosomes 1 through 22. So an autosomal trait is one that occurs due to a mutation on Chromosomes 1 through 22. Dominant means that you only need one copy of a mutation in order to be effective. Some autosomal dominant traits that individuals may be familiar with are neourofibromitosis Type I, Huntington disease, and Marfan syndrome.
Name: Suzanne Hart, Ph.D.
Occupation: Associate Investigator, Medical Genetics Branch; Deputy Director, Medical Genetics Residency and Fellowship Training Programs
Biography: An American Board of Medical Genetics-certified clinical biochemical geneticist and medical geneticist, Dr. Hart uses molecular and biochemical techniques to understand genetic diseases of teeth, the oral cavity and the kidney. Gingival tissue plays a role in tooth development. Gum health contributes to overall well-being, appearance and the ability to eat and speak properly. Overgrowth of the gums can occur as an isolated inherited condition, part of a genetic syndrome, or as a side effect of medications. Dr. Hart and colleagues discovered the only known gene mutation involved in hereditary gingival fibromatosis, a rare form of gum overgrowth.