Genetic Disorders

Question 1

Tay Sach Disease

Answer 1

autosomal recessive
– causes a deficiency of a lysosome enzyme that clears lipids from brain cells
– impairs vision, movement, hearing, and overall mental development
– usually die by age 5

Question 2

Cystic Fibrosis

Answer 2

autosomal recessive
– causes a defective chloride ion channel in the plasma
– thick mucus in the bronchitis tubes and pancreatic ducts
– lifespan up to 35 years

Question 3

Sickle Cell Disease

Answer 3

autosomal recessive
– causes sickle shaped blood cells that clog blood vessels
– anemia, tissue damage, jaundice, joint pain, and gall stones
– treated with blood transfusions and bone marrow transplants

Question 4

Heterozygous Advantage for Sickle Cell Disease

Answer 4

aa = sickle cell disease
AA= malaria
Aa= healthy!

Question 5

Marfan Sydrome

Answer 5

autosomal dominant
– causes a defect in an elastic connective tissue found in the lens of the eye, bones of the limb, ribs, and walls of aorta
– dislocated lens, long limbs and fingers, and a caved-in chest
– rare

Question 6

Osteogenesis Imperfecta

Answer 6

autosomal dominant
– causes weakened, brittle bones
– 9 types of disorders are known all linked in mutations to the genes necessary for the synthesis of collagen
– affects 1 in 5000 births
– treated with long-term drug therapy

Question 7

Huntington’s Disease

Answer 7

autosomal dominant
– mutated copy of protein gene that causes misshaped proteins that form clumps inside neurons, and makes the neurons inactive
– typical for ages 30’s and 40’s
– uncontrolled movement, dementia, speech impairment
– live 15-20 years after symptoms onset