Genetics and Genomics in Nursing and

Health Care 2nd Edition Beery Test

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Chapter 10: Enzyme and Collagen Disorders

Multiple Choice
Identify the choice that best completes the statement or answers the question.

____ 1. Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth?
A. Metabolism during prenatal life is too slow to require full enzyme activity.
B. The deficient enzyme’s activity was performed by maternal enzymes before birth.
C. During the fetal phase of life, the newborn was not exposed to the protein that the
enzyme is responsible for degrading.
D. Although the newborn cannot synthesize the enzyme after birth, the initially stored
enzyme performs its functions until the level is fully depleted.
____ 2. Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?
A. Increased intake of phenylalanine; decreased intake of tyrosine
B. Increased intake of phenylalanine; increased intake of tyrosine
C. Decreased intake of phenylalanine; decreased intake of tyrosine
D. Decreased intake of phenylalanine; increased intake of tyrosine

____ 3. Which ethnic group has the highest incidence of a mutation in the PAH gene?
A. Ashkenazi Jews
B. French Canadians from the Quebec area
C. Celts from Ireland and Scotland
D. Africans from equatorial areas

____ 4. Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)?

A. Increased skin pigmentation
B. Excessive urination
C. Fragile bones
D. Small stature

____ 5. Which action or behavior is considered an “executive function”?

A. Hopping on one foot
B. Learning the names of animals
C. Deciding what to give as a present
D. Counting the number of objects in a picture

____ 6. What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood
levels of phenylalanine are high throughout the pregnancy?
A. Most births are post-mature.
B. There is a high incidence of infertility.
C. The infant develops PKU.
D. There is a high incidence of cardiovascular birth defects.

____ 7. Which statement regarding lysosomal storage diseases is true?

A. A gene defect makes lysosomes unable to store degraded compounds.
B. Accumulation of stored iron results in cell, tissue, and organ dysfunction.
C. Defective enzymes result in the accumulation of potentially toxic substances.

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 D. Mutations in the genes coding for different types of collagen produce substances
that are toxic to brain cells.
____ 8. If a man with Gaucher type 1 has children with a woman who is a carrier for the disorder, what is the
expected risk pattern?
A. All sons will be unaffected; all daughters will be carriers.
B. All sons will be carriers; all daughters will be affected.
C. All children will have one mutated allele and will at least be carriers; each child of
either gender has a 50% risk of having the disease.
D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having
the disease, and a 25% risk of neither being a carrier nor having the disease.
____ 9. Which ethnic group has the highest incidence of Gaucher disease?
A. Ashkenazi Jews
B. Asian Americans
C. American Indians
D. Individuals of Mediterranean descent

____ 10. Why is it important to diagnose Gaucher type 1 disease as soon as possible after birth?
A. Enzyme therapy can reduce complications for some patients.
B. When proper dietary management is instituted early, complications can be
prevented.
C. Insulin therapy can result in prevention of the development of type 2 diabetes
mellitus.
D. Prophylactic therapy with antibiotics can prevent early death from pneumonia and
other infections.
____ 11. How does intravenous enzyme-replacement therapy for Gaucher disease reduce the organ storage of
glucosylceramide?
A. The enzyme increases the destruction of glucosamine-filled macrophages.
B. The drug acts as a cofactor, increasing the activity of the mutated enzyme.
C. The drug increases production of all blood cells in the bone marrow, including
white blood cells, which have not stored glucosylceramide.
D. The enzyme is absorbed through the plasma membranes of affected cells and
converts the stored glucosylceramide into its constituent molecules.
____ 12. Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?
A. Enlarged, palpable liver
B. Weight in the 95th percentile
C. Does not yet say “mama” or “dada”
D. Skin tone appears slightly lighter than that of either parent

____ 13. Which therapeutic option has been found beneficial for patients with Gaucher type 1 disease?
A. Daily ingestion of oral sapropterin hydrochloride (Kuvan)
B. Intravenous enzyme replacement with alpha-L iduronidase
C. Weekly phlebotomy with removal of excess red blood cells
D. Intravenous enzyme replacement with imiglucerase (Cerezyme)

____ 14. For which disorder is the drug idursulfase (Elaprase) appropriate for enzyme-replacement therapy?

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 A. Hurler syndrome
B. Hunter syndrome
C. Gaucher type 2
D. Tay–Sachs disease
____ 15. How are the two mucopolysaccharide disorders Hurler syndrome and Hunter syndrome different?
A. Hurler syndrome is an autosomal-dominant disorder, and Hunter syndrome is
autosomal recessive.
B. Hunter syndrome is an autosomal-dominant disorder, and Hurler syndrome is
autosomal recessive.
C. Individuals with Hurler syndrome become cognitively impaired in early childhood,
whereas those with Hunter syndrome often retain intellectual ability until later in
life.
D. Individuals with Hunter syndrome become cognitively impaired in early
childhood, whereas those with Hurler syndrome often retain intellectual ability
until later in life.
____ 16. Why does a person with Hurler syndrome have an enlarged abdomen?
A. The excess mucopolysaccharides accumulate inside the lysosomes within the liver
cells.
B. The excess mucopolysaccharides accumulate inside the cells of the liver and the
spleen.
C. The excess glycosaminoglycans weaken the muscles of the abdomen, and all
contents move forward.
D. The excess glycosaminoglycans cause the person to develop type 2 diabetes, with
greatly increased abdominal fat.
____ 17. A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has
severe dysmorphic features and many skeletal anomalies. Lucy has only mildly coarse features and
slight developmental delay. What is the best explanation for these differences?
A. Skewed X inactivation allowed more paternal X expression for Lucy and more
maternal X expression for Lester.
B. Lucy’s mother had better prenatal care, including good diet, exercise, and
vitamins, than Lester’s mother.
C. It is likely that Lucy has been misdiagnosed and really has MPS2.
D. The disorder has wide variability in expression of severity.

____ 18. If a man with Fabry disease has children with a woman who is a carrier for the disorder, what is the
expected risk pattern?
A. All sons will be unaffected; all daughters will be carriers.
B. Sons have a 50% risk for being affected; all daughters will either be affected or
carriers.
C. Daughters have a 50% risk for being affected; all sons will either be affected or
carriers.
D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having
the disease, and a 25% risk of neither being a carrier nor having the disease.

Copyright © 2018 F. A. Davis Company

____ 19. A woman who is a carrier for Fabry disease has children with a man who does not have the disorder.
Their son has the disease, and their daughter also has some symptoms of Fabry disease even though
she could only have inherited one affected allele. What is the explanation for the daughter having
some symptoms of Fabry disease?
A. The girl must have a different father than her brother.
B. The daughter is seeking the same attention that is given to her brother.
C. The inactivation of one X chromosome in female cells is a totally random event.
D. In addition to inheriting one affected allele, the daughter has developed a somatic
mutation.
____ 20. What is the pathologic basis of Fabry disease?
A. Increased degradation of globotriaosylceramide
B. Increased accumulation of globotriaosylceramide
C. Deficiency in the number of liver lysosomes
D. Excessive number of liver lysosomes

____ 21. Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy
may have the disorder?
A. Hearing is hyperacute.
B. Opacity is present in both eyes.
C. Fasting blood glucose level is elevated.
D. Growth spurt results in a height 6 inches taller than his siblings.

____ 22. Couples from which ethnic group would derive the greatest benefit from genetic testing for
Tay–Sachs disease?
A. Ashkenazi Jews
B. Asian Americans
C. French Canadians from Quebec
D. Individuals of Mediterranean descent

____ 23. Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay–Sachs disease?
A. Anemia and bruising
B. Enlarged liver and spleen
C. Cherry red spot on the retina
D. Progressive cognitive impairment

____ 24. Which substance fails to form normally in individuals with Marfan syndrome?
A. Elastin
B. Glycogen
C. Collagen
D. Fibrillin

____ 25. Which health problem could be expected as a result of a gene mutation that affects the correct
production and function of type 1 collagen?
A. Failure of blood to clot after minor trauma
B. Increased incidence of arterial and venous aneurysms
C. Increased incidence of hearing loss among children and adults
D. Restrictive lung disease from excessive stiffening of alveolar walls

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____ 26. A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is
the most likely explanation for the son’s disorder?
A. The son is not biologically related to the mother.
B. The son is not biologically related to the father.
C. The gamete of one parent had a spontaneous mutation.
D. The son’s DNA underwent a spontaneous mutation during the second trimester of
pregnancy.
____ 27. Which manifestation is most common among individuals with osteogenesis imperfecta type I?
A. Short stature
B. Premature birth
C. Skull deformities
D. Blue-tinged sclerae

____ 28. The mother of a teenager recently diagnosed with osteogenesis imperfecta type I (OI) asks if the
problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the
most appropriate response?
A. Your diet is not related to this disease because it is an inherited disorder.
B. Although this problem can be inherited, low calcium levels are a major cause.
C. That is one possibility, especially because collagen requires proteins to form.
D. More likely, it is related to the fact that you were older than 35 years of age when
you became pregnant.
____ 29. What is the most common cause of death among individuals with vascular Ehlers–Danlos
(Ehlers–Danlos type IV)?
A. Respiratory impairment from kyphosis
B. Skin cancer (melanoma)
C. Intestinal rupture
D. Liver failure

Multiple Response
Identify one or more choices that best complete the statement or answer the question.

____ 30. A 12-year-old boy with Marfan syndrome complains to his nurse-practitioner, “My mother won’t let
me play football or do anything else. Isn’t there something I can do besides sitting and playing video
games?” Which of the following activities may be considered less risky for this child to perform?
Select all that apply.
A. Soccer (not the goalie position)
B. Riding his bike with his friends
C. Playing table tennis
D. Competitive swimming
E. Archery
F. Recreational ice-skating
G. Hiking low- to moderate-difficulty trails
H. Basketball

Copyright © 2018 F. A. Davis Company

Chapter 10: Enzyme and Collagen Disorders
Answer Section

MULTIPLE CHOICE

1. ANS: B
The newborn with a genetic enzyme deficiency does not have symptoms of the deficiency at birth.
The reason that symptoms often are not apparent in the newborn is that the maternal enzymes cross
the placenta and perform their specific functions in the cells of the fetus. When the child is born, its
access to effective maternal enzymes stops, and the enzyme deficiency begins to affect the child’s
metabolism.

PTS: 1
2. ANS: D
The phenylalanine hydroxylase (PAH) is responsible for converting the amino acid phenylalanine
into tyrosine. The result of a deficiency of PAH is an excess of phenylalanine and a deficiency of
tyrosine. To prevent complications, phenylalanine in the diet must be reduced and carefully
controlled. Because very little tyrosine is made in the body as a result of PKU, more is needed in the
diet.

PTS: 1
3. ANS: C
A mutation in the PAH gene is responsible for the metabolic disease phenylketonuria (PKU).
Although this disease is more common among people whose ancestors came from Northern Europe,
it is especially common among Celts from Ireland and Scotland. PKU is most rare among those
whose ancestors came from Africa. There is no particular increase in PKU incidence among either
Ashkenazi Jews or French Canadians.

PTS: 1
4. ANS: D
When the level of phenylalanine is not managed, brain dysfunction results in severe cognitive
deficiencies and diminished motor skills. Growth retardation is present, and the skin, eyes, and hair
color are lighter than those of parents or unaffected siblings, rather than increased pigmentation. The
urine contains large amounts of phenylalanine, but urine volume is not increased above normal.
Bone density is not affected by the disorder.

PTS: 1
5. ANS: C
Executive functions are those behavioral functions associated with prefrontal-lobe brain activity and
include problem solving, impulse control, planning, and goal-directed actions. Learning names,
hopping, and counting are not related to problem solving, impulse control, planning, or goal-directed
activities.

PTS: 1
6. ANS: D

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 With increasing life spans and cognition among people with PKU, a newer issue is the problem of an
increased incidence of a variety of health problems and birth defects among infants born to PKU
mothers. The infants do not have PKU; however, abnormal blood levels of amino acids, especially
during embryonic life, result in a wide variety of birth defects, most commonly of the cardiovascular
system. The best pregnancy outcomes for PKU mothers are achieved when phenylalanine levels are
well controlled before, as well as during, pregnancy.

PTS: 1
7. ANS: C
The pathologic problem in lysosomal storage diseases is that either an enzyme is not present in the
correct amounts (deficiency) or the enzyme is defective and cannot perform its functions. As a
result, degradation and elimination of potentially toxic substances do not occur, and these products
accumulate. Neither collagen nor iron is relevant to lysosomal storage diseases.

PTS: 1
8. ANS: C
The GBA gene, which is mutated in Gaucher type 1, is located on chromosome 1q21, and the disease
is transmitted in an autosomal-recessive pattern. Therefore, there is no gender difference in risk
between sons and daughters.

PTS: 1
9. ANS: A
Gaucher disease is the most common of the lysosomal storage diseases and occurs most often among
the Ashkenazi Jewish population (incidence approximately 1 in 450 births) compared with
non-Jewish populations (incidence approximately 1 in 40,000 to 1 in 100,000 births). It is also more
common among French Canadians in the Quebec area.

PTS: 1
10. ANS: A
Early diagnosis of Gaucher type 1 disease and treatment with enzyme-replacement therapy can
reduce some of the severe complications of the disorder, especially hepatosplenomegaly. The
enzyme-replacement therapy is expensive and must continue throughout life. Dietary management is
not appropriate for the disorder. Diabetes is not a common complication of the disease, and neither is
pneumonia.

PTS: 1
11. ANS: D
In Gaucher disease there is a deficiency of the GBA gene product, an enzyme that normally breaks
down glucosylceramide into sugar and fat that can be recycled for other metabolic uses. The enzyme
deficiency results in the accumulation of glucosylceramide in macrophages and some other white
blood cells. Enzyme replacement acts like the naturally occurring enzyme, breaking down
glucosylceramide into the usual sugar and fats. Drugs for enzyme-replacement therapy are
imiglucerase (Cerezyme), taliglucerase (ELELYSO), and velaglucerase (VPRIV),

PTS: 1
12. ANS: A

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 The liver contains an enormous number of lysosomes. With lysosomal storage disorders, the
deficient enzyme causes products to accumulate in all lysosomes, especially those of the liver, which
greatly enlarges the organ. Weight in the 95th percentile is above average but is not suggestive of
lysosomal storage disease. Most infants do not say specific words by 6 months of age. Skin tone is
not affected by lysosomal storage diseases, and often, the skin tone of infants is initially lighter than
that of parents until the child has more exposure to sunshine.

PTS: 1
13. ANS: D
Enzyme-replacement therapy with imiglucerase (Cerezyme), which is infused intravenously every 2
weeks once a blood level has been achieved, can reduce liver size, spleen size, and bone pain within
a few weeks of beginning the therapy, although each patient’s response is variable. It is one of three
drugs used for enzyme-replacement therapy in Gaucher type 1. The other two drugs are taliglucerase
(ELELYSO), and velaglucerase (VPRIV),

PTS: 1
14. ANS: B
The enzyme defective or missing in the MPS disorder Hunter syndrome is iduronate sulfatase. Use
of the drug Elaprase can replace this enzyme. The deficient or missing enzymes in the other three
disorders are not iduronate sulfatase. Thus, administering Elaprase would have no benefit.

PTS: 1
15. ANS: C
The actual pathophysiology of Hunter syndrome with regard to poor degradation of
mucopolysaccharides is identical to that of Hurler syndrome. Major differences are that people with
Hunter syndrome have a slower onset of symptoms, and the effect on intellectual ability is more
variable. In mild forms, loss of intellectual ability is minimal. In more severe forms, the loss of
intellectual ability is more severe but occurs much later than in Hurler syndrome. Hurler syndrome is
an autosomal-recessive disorder resulting in deficient function of the enzyme alpha-L iduronidase,
and Hunter syndrome is an X-linked recessive disorder with deficient function of the enzyme
iduronate sulfatase.

PTS: 1
16. ANS: B
The excess mucopolysaccharides accumulate in all tissues and cells, accounting for the widespread
changes associated with the disease. In the liver and spleen, this accumulation leads to organ
enlargement, causing the abdomen to increase in size.

PTS: 1
17. ANS: D
There are over 100 different mutations in the gene that can cause Hurler syndrome (MPSI). This is
responsible for the wide variations in disease severity. MPS1 is an autosomal-recessive disease, and
prenatal care does not appear to have an impact on disease severity. Because the gene is not on the X
chromosome, skewed X inactivation is not a plausible explanation for the difference in severity.
Clinical testing for MPS1 and MPS2 is accurate. Misdiagnosis is not likely.

PTS: 1

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18. ANS: B
Fabry disease is an X-linked recessive disorder resulting in a deficiency of the enzyme
alpha-galactosidase. Boys do not inherit an X chromosome from their fathers, only from their
mothers. Therefore, an affected father cannot transmit the gene to his son. All daughters of an
affected father will inherit an affected gene from him. Thus, they will all be at least carriers. If a
daughter also inherits an affected X chromosome from her carrier mother, she will actually have the
disorder.

PTS: 1
19. ANS: C
Although the girl may be seeking attention, she can have real symptoms of Fabry disease. In order to
prevent a “double dose” of alleles on the X chromosome, one X chromosome in all somatic cells of a
female is inactivated. Although Fabry disease is much more common among males, female carriers
may have significant symptoms of the disorder as a result of skewed X-chromosome inactivation in
different tissues, which results in greater expression of the maternal X (with the mutated allele) than
the paternal X (with the normal allele). It is possible that the son’s father is not the daughter’s father,
but the more likely explanation is the presence of greater inactivation of the father’s X chromosome
than the mother’s X chromosome. A somatic mutation does not affect the expression of this enzyme.

PTS: 1
20. ANS: B
Fabry disease is a genetic lysosomal storage disease in which there is a deficiency of the enzyme
alpha-galactosidase A (also known as ceramide trihexosidase) that results in the accumulation of
globotriaosylceramide (GL-3) within the lysosomes of many tissues and organs. It does not change
the number of lysosomes present in the liver (just their function).

PTS: 1
21. ANS: B
The onset of signs and symptoms usually begins later in childhood. At first, symptoms are related to
poor perfusion and include cold intolerance, insufficient sweating in hot environments, and pain
episodes of unknown origin. In adolescents, the symptoms worsen, with opacities developing in the
eye. Deafness often occurs, not hyperacute hearing. Height is not affected or is shorter than that of
unaffected siblings. Diabetes is not commonly associated with the disorder.

PTS: 1
22. ANS: A
The incidence of Tay–Sachs disease is highest among people of Ashkenazi Jewish ethnicity
worldwide (1 in 3,900 births). The incidence among all other non-Jewish populations is much less
frequent, about 1 in 320,000 births. French Canadians from Quebec have a higher incidence of
Gaucher disease than the general population, but not of Tay–Sachs disease.

PTS: 1
23. ANS: C

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 During the first few months of life, the infant with Tay–Sachs disease progresses normally, learning
to control the head, recognize parental faces, socially smile, and roll over. At this point, normal
development slows or stops, and physical development and cognitive development regress. The
retinal cells have filled with GM2 and become pale. This makes the fovea centralis stand out as a
cherry red spot against the pale retinal background. This is a hallmark of the disease. Although
cognitive ability regresses over time, this is not limited to Tay–Sachs disease. Anemia and
hepatosplenomegaly are not common manifestations of the disorder.

PTS: 1
24. ANS: D
Marfan syndrome (MFS) is an inherited genetic connective tissue disorder in which the gene for the
glycoprotein fibrillin is mutated. The collagen and elastin produced are normal, although the recoil
strength of tissues during and after stretching is not normal because healthy fibrillin is not present to
interact with the collagen and elastin. The structure and function of glycogen are not affected by the
gene mutation that causes Marfan syndrome.

PTS: 1
25. ANS: B
Type 1 collagen is a major component of bones, the dermal layer of skin, tendons, ligaments,
corneas, intervertebral disks, and the walls of arteries and other blood vessels. It is critical in
providing strength to blood vessel walls. With insufficient or poor-quality type 1 collagen, these
blood vessel walls are flabby and can balloon out and rupture.

PTS: 1
26. ANS: C
There are four major types of osteogenesis imperfecta that occur as results of mutations in a gene for
type 1 collagen. All follow an autosomal-dominant transmission pattern, although spontaneous
mutations are responsible about 35% of the time.

PTS: 1
27. ANS: D
The clinical manifestations of osteogenesis imperfecta type I are relatively mild and can easily be
missed because the collagen produced is normal, but the amount is reduced. Usually, the person has
no increase in fractures during infancy. Fractures of long bones do occur in response to relatively
minor trauma throughout childhood, adolescence, and adulthood, although the skull is not often
involved. In women, more fractures are seen after menopause. The most common feature is the
blue-tinged coloration of the sclerae.

PTS: 1
28. ANS: A
The primary problem with OI is failure to produce at least one functional chain of procollagen that is
needed to associate with other molecules and form functional collagen in bone tissue. As a result, the
developing bones have less structural integrity and strength, increasing the risk for fractures. The
problem is a mutation in the gene coding for type 1 collagen. It is inherited in an
autosomal-dominant transmission pattern, although spontaneous mutations are responsible about
35% of the time. Diet during pregnancy does not affect the development of the disorder in a fetus
who has the gene mutation.

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 PTS: 1
29. ANS: C
Vascular Ehlers–Danlos is severe and leads to premature death. The individual has very thin, fragile
skin and short stature. Problems are associated with the thin connective tissue in mid-sized and large
arteries, as well as in the intestinal tract. All of these tissues become thinner as the child grows. The
most common causes of death are hemorrhage from arterial rupture and sepsis from intestinal
rupture, often before the age of 30.

PTS: 1

MULTIPLE RESPONSE

30. ANS: B
C, E, F, G
A balance of physical activity is needed to be physically fit without placing strain on the
cardiovascular system. Strenuous exercise and heavy lifting must be avoided, as should any activity
in which the chest could be hit. Thus, contact sports and those that involve running or catching a ball
should be avoided. Walking is encouraged, as are less physically aggressive sports, such as golfing,
bowling, recreational swimming, or low-intensity bicycling. Competitive swimming is too intense.

PTS: 1

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