Question 1

Paraoxonase converts the insecticide ____________________ into a toxic substance called paraoxon.

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Question 2

In people who have PKU, phenylalanine cannot be converted into the amino acid ____________.

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Question 3

Discuss therapeutic approaches in metabolic diseases.

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Question 4

What does the chapter's section on pharmacogenetics and ecogenetics tell us about the issue of the relative safety of chemicals sold to the public and used in industry?

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Question 5

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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Question 6

Discuss the various possible effects of the loss of the activity of an enzyme.

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Question 7

Show how the environment, extrauterine and intrauterine factors can influence the expression of PKU.

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Question 8

The inability to break down galactose is the genetic disorder called ____________.

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Question 9

The chemical compound that acts as a reactant in an enzyme mediated reaction is called a ____________.

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Question 10

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

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Question 11

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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Question 12

Why do you think some heterozygotes produce only half the normal amount of a given enzyme and yet have a normal phenotype?

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Question 13

Linus Pauling is credited with work that established ____________________ as the first "molecular disease."

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Question 14

The drug used to treat sickle cell anemia that causes elevated levels of fetal hemoglobin is ____________.

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Question 15

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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Question 16

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

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Question 17

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

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Question 18

In humans, ____________________ of the 20 amino acids are "non-essential" amino acids.

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Quiz 10: From Proteins to Phenotypes