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Genetic Disorders Caused by mutations inherited from a parent mutations are mistakes that are present in the DNA of virtually all body cells. VideoclipVideoclip – Cystic Fibrosis and Tay Sachs
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Sickle Cell Anemia Mutated protein = Hemoglobin Red blood cells, normally disc-shaped, become crescent shaped when hemoglobin is mutated They function abnormally and cause small blood clots.
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Cystic Fibrosis (CF) Cause: deletion of only 3 bases on chromosome 7 Fluid in lungs, potential respiratory failure Common among Caucasians…1 in 25 are carriers Therefore is it dominant or recessive?
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Tay-Sachs disease Central nervous system degrades, ultimately causing death. Most common among people of Jewish, eastern Europe descent.
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Hemophilia, the royal disease Hemophilia is the oldest known hereditary bleeding disorder. Caused by a recessive gene on the X chromosome. People with Hemophilia have to little of a protein called clotting factor One can bleed to death with small cuts.
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X-linked Inheritance pedigree chart
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Huntington’s Disease Huntington's disease (HD) is an inherited, degenerative brain disorder which results in an eventual loss of both mental and physical control.
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Phenylketonuria (PKU) PKU is inherited from both parents Cannot break down the aa phenylalanine (found in nearly all foods which contain protein, dairy products, nuts, beans, tofu… etc.) People with PKU cannot consume any product that contains aspartame. Phenylalanine
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Color Blindness Cause: x-linked recessive 1/10 males have, 1/100 females have. Why the difference? Individuals are unable to distinguish shades of red-green. Are you color blind?
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Albinism Patients are unable to produce skin or eye pigments, and thus are light-sensitive
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