genetic disorders caused by mutations inherited from a parent mutations are mistakes that are...
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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. Videoclip – 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