Exam 10: From Proteins to Phenotypes

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The nervous system damage symptomatic of untreated PKU is due to

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The study of genetic variations that affect people's responses to environmental chemicals is called _____________.

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What is the nature of the genetic mutation that causes lactose intolerance?

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Supertasters for the chemical PTC are ____________.

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PKU is a recessive disorder. If a woman who has PKU has a child, what is the child's possible genotype?

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Certain traits in humans are incompletely penetrant, or show variations in expressivity. Can you suggest a biochemical explanation for these observations in such cases caused by a metabolic error?

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An essential amino acid is defined as one that is not produced by the body.

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Garrod called enzyme defects ____________________.

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The uptake of neutral amino acids such as leucine, histidine, and valine is inhibited in brain cells of PKU individuals.

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The hemoglobin molecule

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What actually happens to the blood cells of people with sickle cell anemia that causes the cells to change their shape ("sickle")?

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PKU results from a failure to convert tyrosine to phenylalanine.

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The symptoms of alkaptonuria result from a build-up of ____________________ in the blood.

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Why must dietary therapy for PKU be instituted soon after birth?

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In most cases, mutations in metabolic pathways produce a recessive trait. Suggest how a mutation in a metabolic pathway might produce a dominant condition.

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Some success has been achieved in efforts to treat sickle cell disease by the process of ____________________.

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Large scale alterations of the amino acid structure in alpha globin are the cause of sickle cell anemia.

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Results from the study of globin variants indicate that

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In Chapter 4, two forms of bleeder's disease (hemophilia A and hemophilia B) were described. Each is deficient in a clotting factor. What would you predict are the clotting capacities of a mixture of blood from these two disorders? Why?

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The enzyme lactase splits the lactose molecule into ____________ and ____________.

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