Case Workbook for Human Genetics

Biology

Quiz 2 :

Cells

Quiz 2 :

Cells

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Match the disorder to the organelle, biochemical, or structure that is abnormal. img
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Answer:

a. 4
b. 3
c. 1
d. 5
e. 6
f. 2

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A mouse has the gene encoding a particular enzyme inactivated or "knocked out" and is a model of the human genetic disease Zellweger syndrome. Which organelle do cells of these mice lack?
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Peroxisomes

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Describe a disorder caused by: a. faulty cell adhesion B) a deficient lysosomal enzyme C) an abnormal or missing peroxisomal protein D) a cytoskeletal abnormality
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A. Wounds cannot heal
b. Tay Sachs disease, in which lipid accumulates in nerve cells.
c. Adrenoleukodystrophy, in which very-long chain fatty acids accumulate in the brain and spinal cord.
d. Spherocytosis, in which red blood cells balloon out

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Why wouldn't you expect to see adults with mutations in the telomerase gene that affect phenotype?
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Achondroplasia is the most common form of inherited dwarfism. The causative gene encodes a protein receptor on surfaces of bone and cartilage cells that normally binds a growth factor. Explain how an abnormal form of this gene might cause dwarfism.
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How does Duchenne Muscular Dystrophy (DMD) demonstrate that the cytoskeleton, cell membrane, and extracellular matrix interact?
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Severe childhood autosomal recessive muscular dystrophy, prevalent in North Africa, affects both sexes and is caused by a deficiency of a dystrophin-associated glycoprotein called adhalin. Explain how mutations in two different genes - those for dystrophin and adhalin - can cause the same symptoms of muscle wasting.
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In the novel The Cobra Event , by Richard Preston, a genetically engineered deadly virus is used as a weapon. The virus inserts into the human genome and disrupts production of an enzyme, causing an inborn error of metabolism leading to self mutilation by uncontrollable biting of the lips, fingers, and shoulders. Which genetic disease mentioned in the chapter does this sound like?
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