Human Genetics

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Human Genetics
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A) Hemophilia
1) Lack of a blood clotting protein
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2) recessive, sex-linked disorder
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Famous pedigree of Queen Victorias family
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B) Albinism
1) Limited pigment in the eyes, skin and hair
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2) Results in white hair, pale skin, pink
pupils 3) Problems with vision and sun
exposure 4) Recessive, autosomal trait
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C. Huntington Disease - Symptoms
Huntingtons video

• Effects
• -emotions
• -cognition
• -movement
• 2) Awkward gait,
• clumsiness.
• depression
• memory loss

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3) Faulty proteins cause brain cells to
die 4) Dominant, autosomal 5) Onset of symptoms
late in life (30-45 y.o.) 6) Genetic test
available 7) Currently no cure
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Huntington Disease Pedigree
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D) Sickle Cell Disease

• Abnormal hemoglobin causes red blood cells to
  form a sickle shape
• 2) Sickle cells block blood vessels

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Sickle Cell Disease - genetics
3) Most common among people of African descent 4)
One defective copy of the gene provides
protection against malaria (codominant
trait) 5) Two defective copies of the gene -
Sickle cell disease
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E) Tay Sachs

1. Relentless deterioration of mental and physical
   abilities
2. After normal development, child becomes blind,
   deaf, unable to swallow and paralyzed.

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Tay Sachs Genetics -autosomal and
recessive
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F) Cystic Fibrosis
1) Thick mucus blocks digestion and respiration
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2) autosomal, recessive trait
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CF video

• Treatment physical therapy, medication,
• special diet, and replacement digestive enzymes

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G) Achondroplasia

• Characterized by small body size and short limbs
• dwarfism

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2) Symptoms unusually large head, unusually
prominent abdomen and buttocks, short limbs
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3) Genetics a) autosomal dominant b)
spontaneous mutation
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H) Marfan Syndrome

• Tall, thin bodies that are disproportionate
  arm span is often greater than height.
• 2) Loose joints and fingers

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3) Breast bone sticks in or protrudes out 4)
Enlarged, weakened aorta
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5) Autosomal dominant - no carriers