Deck 10: From Proteins to Phenotypes

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Question
Parathion is effective and highly toxic to only about 5% of the human population.
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Question
The red blood cells of people with sickle cell anemia have abnormal shapes due to ____.

A) hemoglobin molecules with mutant beta globin subunits sticking together and forming long fibers in the cytoplasm
B) destruction of the hemoglobin molecules
C) loss of hemoglobin through leaky cell membranes
D) the attachment of phosphate groups to the hemoglobin molecules
E) the binding of methyl groups to the heme group of the hemoglobin molecule causing desiccation of the cells
Question
In the early years of the twentieth century,____ proposed that some genetic disorders and abnormalities of metabolism are related.

A) Sir Archibald Garrod
B) Francis Crick
C) Linus Pauling
D) Linda Bartoshuk
E) Gregor Mendel
Question
Supertasters for the chemical PTC are ____ for the trait.

A) homozygous dominant
B) heterozygous
C) homozygous recessive
D) either homozygous dominant or homozygous recessive
E) either homozygous dominant or heterozygous
Question
Enzymatic reactions convert products into substrates.
Question
The presence of phenylpyruvic acid in urine is directly linked to ____.

A) heart disease
B) colon cancer
C) intellectual disability
D) spina bifida
E) liver cirrhosis
Question
Results from the study of globin variants indicate that ____.

A) all amino acid substitutions cause severe phenotypic effects
B) a change in a single nucleotide is sufficient to cause a genetic disorder
C) extended chains of phosphorus molecules function to carry oxygen
D) all of the changes in globin are due to changes in amino acid sequences
E) sickle cell anemia is not primarily an inherited disease
Question
In people with PKU,phenylalanine from dietary proteins cannot be converted to tyrosine.
Question
In most human populations,lactase levels are highest soon after birth and drop off in middle-to-late childhood.
Question
Lactose intolerance is caused by a(n)____.

A) nucleotide substitution that prevents lactose production
B) variant manifestation of galactosemia
C) accumulation of galactose-1-phosphate
D) inability to digest lactose
E) excess in lactose production
Question
Galactosemia is an inherited disorder caused by ____ galactose.

A) the overproduction of
B) the excess break down of the protein
C) the inability to break down
D) metabolizing excess fat molecules and attaching them to
E) the over-consumption of
Question
The hemoglobin molecule ____.

A) transports oxygen from the lungs to the cells of the body
B) prevents sickle cell anemia when present in high enough concentrations in the blood
C) is involved in amino acid metabolism
D) acts as a cell surface receptor
E) is controlled by a single gene
Question
Even if detected early,PKU cannot be treated to prevent the development of intellectual disability.
Question
In genetic goitrous cretinism,the phenotype is caused by accumulation of thyroid hormone and its breakdown products.
Question
Linus Pauling and his colleagues discovered that a mutant gene involved in the synthesis of hemoglobin causes sickle cell anemia.
Question
Dietary treatment of galactosemia ____.

A) need not begin until one or two months after birth
B) consists of very low protein intake
C) can usually be discontinued by the age of twelve
D) completely eliminates symptoms of the disease
E) should be started within a few days after birth
Question
Thalassemias are associated with a(n)____.

A) amino acid substitution
B) extended chain in beta globin
C) imbalance in the production of alpha or beta globin
D) excessive synthesis of beta globin
E) altered rate of oxygen transport
Question
Dr.Asbjorn Folling discovered that the blood of children affected by PKU reacted with ferric chloride to produce a green color indicating the presence of phenylalanine.
Question
Proteins are essential parts of all structures and biological processes in cells.
Question
People who can taste PTC are more likely than non-tasters to dislike broccoli and Brussels sprouts.
Question
Women with breast cancers that are estrogen-sensitive ____.

A) become ill when taking prescription estrogen
B) can exacerbate their symptoms with only a small increase in estrogen levels
C) are in danger of faster growth of cancer cells in the presence of estrogen
D) will often experience cancer remission with increased uptake of estrogen
E) do not produce their own estrogen and must obtain it through diet or supplements
Question
Archibald Garrod called genetic disorders of biochemical pathways ____________________.
Question
A mutation that leads to the buildup of homogentisic acid causes ____________________.
Question
Certain anticancer drugs change patterns of gene expression and have created a new and effective treatment for ____________________.
Question
In the 1930s,Dr.Asbjor Folling described the metabolic disorder he called ____.

A) phenylketonuria
B) galactosemia
C) sickle cell anemia
D) lactose intolerance
E) phenylthiocarbamide
Question
Women with PKU who eat a normal diet during pregnancy will have children with ____.

A) only a 25% chance of developing PKU
B) intellectual disability only if the child's phenotype is homozygous recessive
C) intellectual disability only if the child's phenotype is heterozygous
D) intellectual disability regardless of the child's genotype
E) no greater chance of having PKU than if she ate a special PKU diet
Question
The ability to smell ____.

A) manifests as a 1:1 relationship between an odor and a specific receptor
B) specific chemicals can indicate a possible reaction to a chemically related drug
C) specific chemicals will predict the effectiveness of antidepressants
D) is mediated by a family of about 400 genes
E) is mediated by the synthesis of olfactory receptors in the brain
Question
Genetic variations in enzymes that metabolize drugs can produce a(n)______________ range of drug responses.
Question
Different genotypes for the CYP2D6 gene produce significantly different responses to tamoxifen,the medication often used to treat ____________________.
Question
Proteins that act as ____________________ catalyze biochemical reactions and are vital components of the cell's metabolic pathways.
Question
Even the replication of DNA and the expression of genes depend on the action of ____________________.
Question
Enzymes in the body catalyze biochemical reactions and ____.

A) are chemically changed at the end of the reaction
B) are destroyed at the end of the reaction
C) are processed into substrate molecules
D) convert substrate molecules into products
E) convert products into substrate molecules
Question
Phenylalanine is a(n)____ and the starting point for a network of metabolic pathways.

A) lactase precursor molecules
B) carbohydrate by-products of respiration
C) essential amino acid
D) sub-types of hemoglobin
E) phenylthiocarbamides
Question
Human diet must be varied enough to provide ____________________ of the 20 amino acids from the foods we eat.
Question
Genetic goitrous cretinism and alkaptonuria are metabolic disorders in the ____ pathway.

A) nucleic acid
B) thalassemia
C) phenylalanine
D) paraoxonase
E) lipid biochemical
Question
The specific chemical compound that is acted on by an enzyme is called a(n)____________________.
Question
The study of genetic variations that affect people's responses to environmental agents,including man-made chemicals,is called ____________________.
Question
The ability to taste PTC and other bitter chemicals is controlled by ____.

A) hormone levels that change throughout life
B) the presence of fats and sugars in the food being eaten
C) the amount of PTC exposure as a child
D) the amount of capsaicin present in taste buds
E) proteins on the surface of receptor cells
Question
In the United States,parathion is the most widely used member of a class of ____.

A) organophosphate herbicides
B) organophosphate insecticides
C) chlorophosphate fungicides
D) chlorophosphate herbicides
E) chlorophosphate insecticides
Question
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.

A) proteins
B) body's oxygen levels
C) body's pH
D) ribosomes
E) disaccharides
Question
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.
Question
Hemoglobin is a(n)____________________-containing protein in red blood cells.
Question
The first sign of PKU in newborns is abnormally high levels of ____________________ in the blood and urine.
Question
Explain why lactose intolerance is considered a variation in gene expression rather than a genetic disorder.
Question
The simplest sugars are called ____________________,and two of these sugars linked together form a(n)____________________.
Question
Discuss how the therapy for PKU would be different if the disease was not caused by the essential amino acid phenylalanine,but rather by a non-essential amino acid.Would the disorder be potentially more or less life-threatening? Explain your reasoning.
Question
Discuss how only one blocked metabolic pathway,such as the one leading from phenylalanine,has the potential to cause many different disorders.
Question
Discuss how mutations that eliminate or alter the activity of an enzyme can cause phenotypic effects.
Question
Paraoxon is a toxic compound that disrupts the transmission of signals in the ____________________ system and can cause headaches,blurred vision,tremors,unconsciousness,and death by ____________________ arrest.
Question
There is a direct link between a person's ____________________,the proteins a person makes,and that person's ____________________.
Question
____________________ are organic molecules that include simple sugars,starches,glycogens,and celluloses.
Question
Using breast cancer as an example,describe the importance of understanding the interactions of an individual's genotype with therapeutic drugs when treating patients
Question
Identify several ways in which the study of hemoglobin variants led to an understanding of the molecular relationship among genes,proteins,and human disease.
Question
Explain how the field of human biochemical genetics had its beginnings partly through the persistence of a young mother.
Question
Discuss how mutations in proteins can be used to examine the link between a person's genotype and that person's phenotype.
Question
Discuss factors that must be taken into account when setting standards for safe levels of exposure to potentially harmful chemicals in the environment.Explain why setting these standards is such a complex task.
Question
The use of ____________________ is banned or restricted in more than 23 countries due to its toxicity.
Question
Summarize the metabolic process represented in the accompanying diagram.
Question
Metabolism is the sum of all _____________________ by which cells convert and utilize energy
Question
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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Deck 10: From Proteins to Phenotypes
1
Parathion is effective and highly toxic to only about 5% of the human population.
False
2
The red blood cells of people with sickle cell anemia have abnormal shapes due to ____.

A) hemoglobin molecules with mutant beta globin subunits sticking together and forming long fibers in the cytoplasm
B) destruction of the hemoglobin molecules
C) loss of hemoglobin through leaky cell membranes
D) the attachment of phosphate groups to the hemoglobin molecules
E) the binding of methyl groups to the heme group of the hemoglobin molecule causing desiccation of the cells
A
3
In the early years of the twentieth century,____ proposed that some genetic disorders and abnormalities of metabolism are related.

A) Sir Archibald Garrod
B) Francis Crick
C) Linus Pauling
D) Linda Bartoshuk
E) Gregor Mendel
A
4
Supertasters for the chemical PTC are ____ for the trait.

A) homozygous dominant
B) heterozygous
C) homozygous recessive
D) either homozygous dominant or homozygous recessive
E) either homozygous dominant or heterozygous
Unlock Deck
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Unlock Deck
k this deck
5
Enzymatic reactions convert products into substrates.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
6
The presence of phenylpyruvic acid in urine is directly linked to ____.

A) heart disease
B) colon cancer
C) intellectual disability
D) spina bifida
E) liver cirrhosis
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
7
Results from the study of globin variants indicate that ____.

A) all amino acid substitutions cause severe phenotypic effects
B) a change in a single nucleotide is sufficient to cause a genetic disorder
C) extended chains of phosphorus molecules function to carry oxygen
D) all of the changes in globin are due to changes in amino acid sequences
E) sickle cell anemia is not primarily an inherited disease
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
8
In people with PKU,phenylalanine from dietary proteins cannot be converted to tyrosine.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
9
In most human populations,lactase levels are highest soon after birth and drop off in middle-to-late childhood.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
10
Lactose intolerance is caused by a(n)____.

A) nucleotide substitution that prevents lactose production
B) variant manifestation of galactosemia
C) accumulation of galactose-1-phosphate
D) inability to digest lactose
E) excess in lactose production
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
11
Galactosemia is an inherited disorder caused by ____ galactose.

A) the overproduction of
B) the excess break down of the protein
C) the inability to break down
D) metabolizing excess fat molecules and attaching them to
E) the over-consumption of
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
12
The hemoglobin molecule ____.

A) transports oxygen from the lungs to the cells of the body
B) prevents sickle cell anemia when present in high enough concentrations in the blood
C) is involved in amino acid metabolism
D) acts as a cell surface receptor
E) is controlled by a single gene
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
13
Even if detected early,PKU cannot be treated to prevent the development of intellectual disability.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
14
In genetic goitrous cretinism,the phenotype is caused by accumulation of thyroid hormone and its breakdown products.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
15
Linus Pauling and his colleagues discovered that a mutant gene involved in the synthesis of hemoglobin causes sickle cell anemia.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
16
Dietary treatment of galactosemia ____.

A) need not begin until one or two months after birth
B) consists of very low protein intake
C) can usually be discontinued by the age of twelve
D) completely eliminates symptoms of the disease
E) should be started within a few days after birth
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
17
Thalassemias are associated with a(n)____.

A) amino acid substitution
B) extended chain in beta globin
C) imbalance in the production of alpha or beta globin
D) excessive synthesis of beta globin
E) altered rate of oxygen transport
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
18
Dr.Asbjorn Folling discovered that the blood of children affected by PKU reacted with ferric chloride to produce a green color indicating the presence of phenylalanine.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
19
Proteins are essential parts of all structures and biological processes in cells.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
20
People who can taste PTC are more likely than non-tasters to dislike broccoli and Brussels sprouts.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
21
Women with breast cancers that are estrogen-sensitive ____.

A) become ill when taking prescription estrogen
B) can exacerbate their symptoms with only a small increase in estrogen levels
C) are in danger of faster growth of cancer cells in the presence of estrogen
D) will often experience cancer remission with increased uptake of estrogen
E) do not produce their own estrogen and must obtain it through diet or supplements
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
22
Archibald Garrod called genetic disorders of biochemical pathways ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
23
A mutation that leads to the buildup of homogentisic acid causes ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
24
Certain anticancer drugs change patterns of gene expression and have created a new and effective treatment for ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
25
In the 1930s,Dr.Asbjor Folling described the metabolic disorder he called ____.

A) phenylketonuria
B) galactosemia
C) sickle cell anemia
D) lactose intolerance
E) phenylthiocarbamide
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
26
Women with PKU who eat a normal diet during pregnancy will have children with ____.

A) only a 25% chance of developing PKU
B) intellectual disability only if the child's phenotype is homozygous recessive
C) intellectual disability only if the child's phenotype is heterozygous
D) intellectual disability regardless of the child's genotype
E) no greater chance of having PKU than if she ate a special PKU diet
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
27
The ability to smell ____.

A) manifests as a 1:1 relationship between an odor and a specific receptor
B) specific chemicals can indicate a possible reaction to a chemically related drug
C) specific chemicals will predict the effectiveness of antidepressants
D) is mediated by a family of about 400 genes
E) is mediated by the synthesis of olfactory receptors in the brain
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
28
Genetic variations in enzymes that metabolize drugs can produce a(n)______________ range of drug responses.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
29
Different genotypes for the CYP2D6 gene produce significantly different responses to tamoxifen,the medication often used to treat ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
30
Proteins that act as ____________________ catalyze biochemical reactions and are vital components of the cell's metabolic pathways.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
31
Even the replication of DNA and the expression of genes depend on the action of ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
32
Enzymes in the body catalyze biochemical reactions and ____.

A) are chemically changed at the end of the reaction
B) are destroyed at the end of the reaction
C) are processed into substrate molecules
D) convert substrate molecules into products
E) convert products into substrate molecules
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
33
Phenylalanine is a(n)____ and the starting point for a network of metabolic pathways.

A) lactase precursor molecules
B) carbohydrate by-products of respiration
C) essential amino acid
D) sub-types of hemoglobin
E) phenylthiocarbamides
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
34
Human diet must be varied enough to provide ____________________ of the 20 amino acids from the foods we eat.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
35
Genetic goitrous cretinism and alkaptonuria are metabolic disorders in the ____ pathway.

A) nucleic acid
B) thalassemia
C) phenylalanine
D) paraoxonase
E) lipid biochemical
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
36
The specific chemical compound that is acted on by an enzyme is called a(n)____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
37
The study of genetic variations that affect people's responses to environmental agents,including man-made chemicals,is called ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
38
The ability to taste PTC and other bitter chemicals is controlled by ____.

A) hormone levels that change throughout life
B) the presence of fats and sugars in the food being eaten
C) the amount of PTC exposure as a child
D) the amount of capsaicin present in taste buds
E) proteins on the surface of receptor cells
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
39
In the United States,parathion is the most widely used member of a class of ____.

A) organophosphate herbicides
B) organophosphate insecticides
C) chlorophosphate fungicides
D) chlorophosphate herbicides
E) chlorophosphate insecticides
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
40
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.

A) proteins
B) body's oxygen levels
C) body's pH
D) ribosomes
E) disaccharides
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
41
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.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
42
Hemoglobin is a(n)____________________-containing protein in red blood cells.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
43
The first sign of PKU in newborns is abnormally high levels of ____________________ in the blood and urine.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
44
Explain why lactose intolerance is considered a variation in gene expression rather than a genetic disorder.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
45
The simplest sugars are called ____________________,and two of these sugars linked together form a(n)____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
46
Discuss how the therapy for PKU would be different if the disease was not caused by the essential amino acid phenylalanine,but rather by a non-essential amino acid.Would the disorder be potentially more or less life-threatening? Explain your reasoning.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
47
Discuss how only one blocked metabolic pathway,such as the one leading from phenylalanine,has the potential to cause many different disorders.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
48
Discuss how mutations that eliminate or alter the activity of an enzyme can cause phenotypic effects.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
49
Paraoxon is a toxic compound that disrupts the transmission of signals in the ____________________ system and can cause headaches,blurred vision,tremors,unconsciousness,and death by ____________________ arrest.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
50
There is a direct link between a person's ____________________,the proteins a person makes,and that person's ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
51
____________________ are organic molecules that include simple sugars,starches,glycogens,and celluloses.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
52
Using breast cancer as an example,describe the importance of understanding the interactions of an individual's genotype with therapeutic drugs when treating patients
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
53
Identify several ways in which the study of hemoglobin variants led to an understanding of the molecular relationship among genes,proteins,and human disease.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
54
Explain how the field of human biochemical genetics had its beginnings partly through the persistence of a young mother.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
55
Discuss how mutations in proteins can be used to examine the link between a person's genotype and that person's phenotype.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
56
Discuss factors that must be taken into account when setting standards for safe levels of exposure to potentially harmful chemicals in the environment.Explain why setting these standards is such a complex task.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
57
The use of ____________________ is banned or restricted in more than 23 countries due to its toxicity.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
58
Summarize the metabolic process represented in the accompanying diagram.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
59
Metabolism is the sum of all _____________________ by which cells convert and utilize energy
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
60
An autosomally recessive metabolic disorder in the phenylalanine pathway that was first investigated by Garrod at the beginning of the twentieth century is ____________________.
Unlock Deck
Unlock for access to all 60 flashcards in this deck.
Unlock Deck
k this deck
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Unlock for access to all 60 flashcards in this deck.