describe three autosomal dominant conditions in humans

Expert Solution

Autosomal dominant disorders are those in which only one mutated copy of the gene is responsible for the person to be affected by it. Examples of autsomal dominant disorders are Huntington's disease, Marfan's syndrome and neurofibromatosis.

Huntington's disease is a rare hereditary neurological disease that is characterized by irregular and involuntary movement of the muscles and progressive loss of cognitive ability.

Marfan's syndrome is a rare hereditary connective tissue disorder that affects the skeleton, heart and eyes. It involves mutation to a gene that makes fibrillin, that results in the production of abnormal connective tissue.

Neurofibromatosis can be characterized into Type 1 and Type 2 disorders. Neurofibromatosis Type 1 is more common of the two disorders and is characterized by pale brown spots on the skin and benign soft tumors arising from abnormal growth of nerves.

Nuerofibromatosis Type 2 is much rarer and is chracterized by tumors of the auditory canal in the ear and by small number of soft brown spots.

gladiator answered 2 years ago

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describe three autosomal dominant conditions in humans

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