Exam 10: From Proteins to Phenotypes

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Linus Pauling and his colleagues discovered that a mutant gene involved in the synthesis of hemoglobin causes sickle cell anemia.

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An autosomally recessive metabolic disorder in the phenylalanine pathway that was first investigated by Garrod at the beginning of the twentieth century is ____________________.

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alkaptonuria

Metabolism is the sum of all _____________________ by which cells convert and utilize energy

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biochemical reactions

In people with PKU,phenylalanine from dietary proteins cannot be converted to tyrosine.

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Discuss how mutations that eliminate or alter the activity of an enzyme can cause phenotypic effects.

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Explain how the field of human biochemical genetics had its beginnings partly through the persistence of a young mother.

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Parathion is effective and highly toxic to only about 5% of the human population.

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The first sign of PKU in newborns is abnormally high levels of ____________________ in the blood and urine.

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In addition to several other factors,the overall risks of environmental chemicals depend on genetically determined variations in the ____ involved in transport,metabolism,and excretion of these chemicals.

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The simplest sugars are called ____________________,and two of these sugars linked together form a(n)____________________.

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Even if detected early,PKU cannot be treated to prevent the development of intellectual disability.

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Lactose intolerance is caused by a(n)____.

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A mutation that leads to the buildup of homogentisic acid causes ____________________.

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Women with PKU who eat a normal diet during pregnancy will have children with ____.

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Hemoglobin is a(n)____________________-containing protein in red blood cells.

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Phenylalanine is a(n)____ and the starting point for a network of metabolic pathways.

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A branch of genetics known as ____________________ studies genetic variations that underlie differences in the body's response to drugs,while ____________________ is focused on the development of drugs that are tailored to an individual's genetic makeup.

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Dietary treatment of galactosemia ____.

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The hemoglobin molecule ____.

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There is a direct link between a person's ____________________,the proteins a person makes,and that person's ____________________.

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