autosomal dominant
Quick Summary
Autosomal dominant inheritance describes a pattern of genetic disease transmission where a trait or condition can occur in either sex and be passed down by either parent. This occurs when an individual inherits a single copy of a mutated gene from one parent, along with a normal gene from the other. This condition is called heterozygosity.
Individuals with an autosomal dominant trait have a 50 percent chance of passing the mutated gene to each of their children. In some cases, inheriting two copies of the mutated gene (homozygosity) can lead to more severe effects or even be lethal. New mutations can also cause these disorders, meaning unaffected parents can have an affected child. Examples include achondroplasia and Huntington disease.1
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human diseaseDiseases of genetic originAutosomal dominant disorders include Huntington chorea, a degenerative disease of the nervous system that usually does not develop until the carrier is between 30 and 40 years of age. The delayed onset of Huntington chorea allows this lethal gene to be passed on to offspring.…
Read MoreAutosomal dominant disorders include Huntington chorea, a degenerative disease of the nervous system that usually does not develop until the carrier is between 30 and 40 years of age. The delayed onset of Huntington chorea allows this lethal gene to be passed on to offspring.…
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human genetic diseaseAutosomal dominant inheritance…that is inherited in an autosomal dominant manner can occur in either sex and can be transmitted by either parent. It manifests itself in the heterozygote (designated Aa), who receives a mutant gene (designated a) from one parent and a normal (“wild-type”) gene (designated A) from the other. In such…
Read More…that is inherited in an autosomal dominant manner can occur in either sex and can be transmitted by either parent. It manifests itself in the heterozygote (designated Aa), who receives a mutant gene (designated a) from one parent and a normal (“wild-type”) gene (designated A) from the other. In such…
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