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Talking Glossary of Genetic Terms

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Suzanne Hart, Ph.D. defines Autosomal Dominant

Autosomal Dominant

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.

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Autosomal Dominant

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.

Narration Transcription

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.


Doctor Profile

Suzanne Hart, Ph.D.

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.

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