Recessive and Dominant Genetic Disorders

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6 Terms

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Albinism

recessive trait people with albinism lack melanin pigment in their skin. Can cause White Hair, Pale skin, Pink Pupils, usually causes vision problems

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Huntingtons

Dominant genetic disorder affects the nervous system. Gradual loss of brain function, uncontrollable movements, and emotional disturbances. Symptoms appear between 30-50 years old. Genetic tests available NO CURE

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Galactosemia

Recessive defect in enzymes (GALT) that breaks down the sugar galactose. Milk contains lactose (galactose plus glucose). Requires early diagnosis and avoiding milk products. Can cause mental disabilities, enlarged liver, kidney failure NO CURE

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Tay-Sachs

Recessive disease identified by cherry red spots on the back of the eye. Caused by the absence of enzymes responsible for the break down of fatty acids (gangliosides). Fatty Acids accumulate in the brain and cause mental deterioration. NO CURE OR TREATMENT. death by age 5

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Cystic Fibrosis

one of the most common recessive genetic disorders among caucasians. Affects the mucus-producing glands, digestive enzymes, and sweat glands. Defect in protein that transports chlorid ions in cells. Causes a thick mucus to form afeecting many areas of the body

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Achondroplasia

Dominant small body size and short arms and legs most common form of dwarfism. Adult height of four feet normal life expectancy 75% of individuals with Achondroplasia are born to parents of average size Happens because of a new mutation in DNA.