Chapter 5: Genes, Environment-Lifestyle, and Common Diseases
MULTIPLE CHOICE
1. The data reporting that sickle cell disease affects
approximately 1 in 600 American blacks is an example of
which concept?
a. Incidence
c. Ratio
b. Prevalence
d. Risk
ANS: B
Prevalence rate is the proportion of the population
affected by a disease at a specific point in time. Thus
both the incidence rate and the length of the survival
period in affected individuals determine prevalence. The
incidence rate is the number of new cases of a disease
reported during a specific period (typically 1 year),
divided by the number of individuals in the population. A
numerical expression representing a part of a larger whole
or proportion is considered a ratio. Any factor that increases
the chance of disease or injury is considered a risk.
PTS: 1
REF: Page 165
2. The ratio of the disease among the exposed population to the disease rate in an unexposed
population is referred to as what type of risk?
a. Attributable
b. Contingency
c. Causal
d. Relative
ANS: D
A common measure of the effect oNfUaR sSpI NecGiTf iBc . Cr iOs kM f ac to r is the relative risk. Assuming a
factor is the cause of a disease, attributable risk is the amount of risk that is due to that
factor. A future event or circumstance that is possible but cannot be predicted with
certainty is a contingency risk. The probability of the outcome is termed a causal risk
factor.
PTS: 1
REF: Page 165
3. Empirical risks for most multifactorial diseases are based on:
a. Chromosomal testing
c. Liability thresholds
b. Direct observation
d. Relative risks
ANS: B
For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of
data) have been derived. The other options are not the basis for determining the empirical
risk of most multifactorial diseases.
PTS: 1
REF: Page 167
4. What is the cause of familial hypercholesterolemia (FH)?
a. Diet high in saturated fats
b. Increased production of cholesterol by the liver
c. Reduction in the number of low-density lipoprotein (LDL) receptors on cell
surfaces
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d. Abnormal function of lipoprotein receptors circulating in the blood
ANS: C
A reduction in the number of functional LDL receptors on cell surfaces causes FH.
Lacking the normal number of LDL receptors, cellular cholesterol uptake is reduced and
circulating cholesterol levels increase (see Box 5-3). The other options are not the basis for
developing familial FH.
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REF: Page 173 | Box 5-3
5. Which risk factor for hypertension is influenced by genetic factors and lifestyle?
a. Sodium intake
c. Psychosocial stress
b. Physical inactivity
d. Obesity
ANS: D
The most important environmental risk factors for hypertension are increased sodium
intake, decreased physical activity, psychosocial stress, and obesity. However, obesity is,
itself, influenced by genes and the environment.
PTS: 1
REF: Page 172
6. What percentage of all cases of breast cancer are identified as an autosomal dominant
form?
a. 5
b. 10
c. 15
d. 20
ANS: A
An autosomal dominant form of breast cancer accounts for approximately 5% of breast
cancer cases in the United States.
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REF: Page 172 | Page 174
7. When a woman has one first-degree relative with breast cancer, her risk of developing
breast cancer is how many times greater?
a. 2
b. 3
c. 6
d. 10
ANS: A
If a woman has one affected first-degree relative, her risk of developing breast cancer
doubles.
PTS: 1
REF: Page 172
8. Adoption studies have shown that the offspring of an alcoholic parent when raised by
nonalcoholic parents have what amount of an increased risk of developing alcoholism?
c. Fourfold
d. Tenfold
a. Twofold
b. Threefold
ANS: C
Adoption studies have shown that the offspring of an alcoholic parent, even when raised
by nonalcoholic parents, have a fourfold increased risk of developing the disorder.
PTS: 1
REF: Page 179
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9. Studies have identified several genes that play a role in the prevention of obesity by
affecting what?
a. Regulation of appetite
b. Metabolizing of fat
c. Absorption of fat
d. Altering the sense of satiety
ANS: A
Clinical trials using recombinant leptin have demonstrated moderate weight loss in a
subset of obese individuals. In addition, leptin participates in important interactions with
other components of appetite control, such as neuropeptide Y and
α–melanocyte-stimulating hormone and its receptor, the melanocortin-4 receptor (MC4R).
Currently, no research supports the other options as being genetically regulated.
PTS: 1
REF: Page 178
10. The BRCA1 and BRCA2 mutations increase the risk of which cancer in women?
a. Ovarian
c. Uterine
b. Lung
d. Pancreatic
ANS: A
BRCA1 mutations increase the risk of ovarian cancer among women (20% to 50% lifetime
risk), and BRCA2 mutations also confer an increased risk of ovarian cancer (10% to 20%
lifetime prevalence). BRCA1 and BRCA2 mutations are not currently believed to be linked
with risks of lung, uterine, or pancreatic cancers.
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REF: Page 174
11. Blood pressure variations are assoNcU
iaRteSdINwGiTthB:.COM
a. ß1-adrenergic receptors to increase heart rate
b. The release of an antidiuretic hormone (ADH) that increases water reabsorption
c. The renin-angiotensin system’s effect on vasoconstriction
d. Serum bradykinin, causing vasodilation
ANS: C
Significant research is now focused on specific components that may influence blood
pressure variation, such as the renin-angiotensin system (involved in sodium reabsorption
and vasoconstriction). The other options are not related to hypertension.
PTS: 1
REF: Page 172
12. The two most important risk factors for type 2 diabetes are:
a. Autoantibodies and human leukocyte antigen associations
b. Autoantibodies and obesity
c. Obesity and positive family history
d. HLA associations and positive family history
ANS: C
The two most important risk factors for type 2 diabetes are positive family history and
obesity. The other options are not believed to be important risk factors for this form of
diabetes.
PTS: 1
REF: Pages 177-178
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13.
A major characteristic of type 1 diabetes mellitus is that there is:
c. Insulin resistance
d. Obesity as a common risk factor
a. Partial insulin secretion
b. An autoimmune cause factor
ANS: B
A strong association between type 1 diabetes and the presence of several human leukocyte
antigen (HLA) class II alleles indicate that type 1 diabetes mellitus is an autoimmune
disease. The remaining options are associated with type 2 diabetes.
PTS: 1
REF: Page 174
14. Obesity acts as an important risk factor for type 2 diabetes mellitus by:
a. Reducing the amount of insulin the pancreas produces
b. Increasing the resistance to insulin by cells
c. Obstructing the outflow of insulin from the pancreas
d. Stimulating the liver to increase glucose production
ANS: B
People with type 2 diabetes mellitus suffer from insulin resistance (i.e., their cells have
difficulty using insulin). The other options are not associated with the effect of obesity
regarding insulin production.
PTS: 1
REF: Pages 177-178
15. Traits caused by the combined effects of multiple genes are referred to by which term?
a. Polygenic
c. Modifiable
b. Multifocal
NURSINGTd
B..COInMvoluntary
ANS: A
Traits in which variation is thought to be caused by the combined effects of multiple genes
are polygenic, meaning many genes. Multifocal means relating to or arising from many
points. Modifiable refers to the changeability of something. Involuntary suggests being out
of the control of someone or something.
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REF: Page 165
16. Regarding type 2 diabetes, obesity is considered to be what type of risk?
a. Genetic
c. Relative
b. Empirical
d. Modifiable
ANS: D
Obesity is a modifiable risk factor for many diseases including heart disease, stroke,
hypertension, and type 2 diabetes. The other terms do not apply.
PTS: 1
REF: Pages 177-178
17. Which disease form is identified on the basis of empirical risk observation?
a. Polygenic
c. Monozygotic
b. Multifactorial
d. Genetic
ANS: B
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For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of
data) have been derived. Traits in which variation is thought to be caused by the combined
effects of multiple genes are polygenic. Monozygotic is a term that refers to identical
twins. Genetic refers to issues related to genes and their influence on the body.
PTS: 1
REF: Page 167
18. The number of persons living with a specific disease at a specific point in time is referred
to by which term?
a. Relativity
b. Survivability
c. Prevalence
d. Incidence
ANS: C
The prevalence rate is the proportion of the population affected by a disease at a specific
point in time. Thus both the incidence rate and the length of the survival period in affected
individuals determine prevalence. The description in the question does not relate to any of
the other options.
PTS: 1
REF: Page 164
19. Which type of cancer is said to aggregate among families?
a. Breast
c. Skin
b. Lung
d. Brain
ANS: A
Breast cancer appears to aggregate strongly in families. The other cancers are not believed
to be familial in nature.
PTS: 1
REF: Page 172
20. Which dietary lifestyle choice has been associated with a decreased risk for developing
colon cancer?
Increased consumption of dairy produces
Increased consumption of foods containing vitamin C
Decreased consumption of foods high in fat
Decreased consumption of artificial food coloring
a.
b.
c.
d.
ANS: C
A low-fat, high-fiber diet is thought to decrease the risk of colon cancer.
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REF: Page 165
21. It is currently believed that the risk for developing Alzheimer disease:
a. Is not directly related to genetic predisposition.
b. Is higher among men than it is among women.
c. Occurs less among Hispanics than in Asians.
d. Doubles among those with an affected first-degree relative.
ANS: D
The risk of developing Alzheimer disease doubles in individuals who have an affected
first-degree relative. The other statements are not true.
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PTS: 1
REF: Page 178
22. The number of new cases of a disease reported during a specific period divided by the
number of individuals in the population is defined as which characteristic of a disease?
c. Relative risk
d. Frequency
a. Prevalence rate
b. Incidence rate
ANS: B
The incidence rate is the number of new cases of a disease reported during a specific
period (typically 1 year) divided by the number of individuals in the population. The
description provided in the question does not describe any of the other options.
PTS: 1
REF: Page 164
MULTIPLE RESPONSE
23. Cancers that cluster strongly in families include: (Select all that apply.)
a. Breast
b. Colon
c. Ovarian
d. Lung
e. Brain
ANS: A, B, C
Although breast, ovarian, and colon cancers have shown a strong familial tendency, lung
and brain cancers have not.
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REF: Page 17 2
24. Which genes are responsible for an autosomal dominant form of breast cancer? (Select all
that apply.)
LCAT
CHK1
CHK2
BRCA1
BRCA2
a.
b.
c.
d.
e.
ANS: D, E
Women who inherit a mutation in BRCA1 or BRCA2 experience a 50% to 80% lifetime
risk of developing breast cancer. The other options do not carry this risk.
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REF: Page 174
25. Lifestyle modifications that affect health-related risk factors include: (Select all that
apply.)
Diet
Exercise
Education
Finances
Stress reduction
a.
b.
c.
d.
e.
ANS: A, B, E
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Lifestyle modification (e.g., diet, exercise, stress reduction) can often reduce health risks
significantly. Education and finances have not been shown to have an effect on health in a
way that involves lifestyle modifications.
PTS: 1
REF: Page 180
26. What factors are typically considered when assessing an individual’s risk for developing
such common diseases as hypertension? (Select all that apply.)
Age
Diet
Exercise habits
Family history
Spiritual beliefs
a.
b.
c.
d.
e.
ANS: A, B, C, D
Many factors influence the risk of acquiring a common disease, such as cancer, diabetes,
or hypertension. These factors can include age, gender, diet, exercise, and family history
of the disease. Current research does not support a connection between spiritual beliefs
and the development of hypertension.
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REF: Page 165
27. Examples of multifactorial diseases associated with adults include: (Select all that apply.)
a. Breast cancer
b. Coronary heart disease
c. Emphysema
d. Diabetes mellitus
e. Schizophrenia
ANS: A, B, D, E
Multifactorial diseases in adults include coronary heart disease, hypertension, breast
cancer, colon cancer, diabetes mellitus, obesity, Alzheimer disease, alcoholism,
schizophrenia, and bipolar affective disorder. Emphysema is not considered multifactorial.
PTS: 1
REF: Pages 171-180
MATCHING
Match the terms with the corresponding descriptions.
A. Incidence rate effect of multiple genes
B. Gene-environment interaction
C. Prevalence rate at which some diseases occur
D. Obesity
E. Polygenic
F. Empirical risk
G. Relative risk
28.
29.
30.
31.
Traits caused by the combined effects of multiple genes
Number of persons living with the disease
Yields an increased risk for some diseases
Modifiable risk factor for many diseases
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32. Number of new cases (persons) detected with the disease
33. Measure of the effect of a specific risk factor
34. Risks based on direct observation of data
28. ANS: E
PTS: 1
REF: Page 165
MSC: Traits in which variation is thought to be caused by the combined effects of multiple genes
are polygenic (i.e., many genes).
29. ANS: C
PTS: 1
REF: Page 164
MSC: The prevalence rate is the proportion of the population affected by a disease at a specific
point in time. Thus both the incidence rate and the length of the survival period in affected
individuals determine prevalence.
30. ANS: B
PTS: 1
REF: Page 171
MSC: In some cases, a genetic predisposition may interact with an environmental factor to
increase the risk of disease to a significantly higher level than would either factor acting alone. A
good example of a gene-environment interaction is given by 1-antitrypsin deficiency, a genetic
condition that causes pulmonary emphysema and is greatly exacerbated by cigarette smoking (see
Box 5-2).
31. ANS: D
PTS: 1
REF: Pages 177-178
MSC: Obesity is a modifiable risk factor for many diseases including heart disease, stroke,
hypertension, and type 2 diabetes.
32. ANS: A
PTS: 1
REF: Page 164
MSC: The incidence rate is the number of new cases of a disease reported during a specific period
(typically 1 year), divided by the number of individuals in the population.
33. ANS: G
PTS: 1
REF: Page 165
MSC: A common measure of the effect of a specific risk factor is the relative risk.
34. ANS: F
PTS: 1
REF: Page 167
MSC: For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of
data) have been derived.
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Chapter 6: Epigenetics and Disease
MULTIPLE CHOICE
1. What genetic process is likely responsible for the occurrence of asthma in only one of a
pair of identical twins?
a. Epigenetic modifications
b. Genomic imprinting
c. Transgenerational inheritance
d. Methylation
ANS: A
Epigenetic modifications can cause individuals with the same deoxyribonucleic acid
(DNA) sequences (such as identical twins) to have different disease profiles. The correct
option is the only one that accurately identifies the genetic process likely responsible for
the occurrence of asthma in only one of a pair of twins.
PTS: 1
REF: Page 183 | Page 185
2. Prader-Willi syndrome causes a chromosomal defect that is:
a. Initiated by postnatal exposure to a virus
b. Inherited from the father
c. Related to maternal alcohol abuse
d. Transferred from mother to child
ANS: B
Prader-Willi syndrome can be caused by a 4 Mb deletion of chromosome 15q when
inherited from the father. The other options do not accurately identify the reason for the
chromosomal damage that causes NPUraRdSeIrN-GWTiBll. iCsOyMndrome.
PTS: 1
REF: Pages 187-188
3. A malfunction in DNA methylation can lead to:
a. Hypothyroidism
c. Cancer
b. Blindness
d. Diabetes mellitus
ANS: C
Aberrant methylation can lead to silencing of tumor-suppressor genes in the development
of cancer. No research supports a connection between hypothyroidism, blindness, or
diabetes mellitus to a malfunctioning of DNA methylation.
PTS: 1
REF: Page 183 | Page 186
4. Which statement is true regarding the embryonic development of stem cells?
a. They are already differentiated.
b. They are referred to as housekeeping genes.
c. They already demonstrate DNA sequencing.
d. They are said to be pluripotent.
ANS: D
Early in embryonic development, all cells of the embryo have the potential to become any
type of cell in the fetus or adult. These embryonic stem cells are said to be pluripotent. The
remaining options are not true statements regarding embryonic stem cell development.
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PTS: 1
REF: Page 184
5. When microRNA (miRNA) are methylated their messenger RNA (mRNA) targets are
over-expressed, the resulting effect on existing cancer would be:
c. Remission
d. Relapse
a. Cell death
b. Metastasis
ANS: B
When miRNA genes are methylated, their mRNA targets are over-expressed, and this
over-expression has been associated with metastasis. of the described effect on mRNA
targets on existing cancer does not result in any of the other options.
PTS: 1
REF: Page 186
6. The difference between DNA sequence mutations and epigenetic modifications is:
a. DNA sequence mutations can be directly altered.
b. Leukemia is a result of only DNA sequence mutation.
c. Epigenetic modifications can be reversed.
d. No known drug therapies are available for epigenetic modifications.
ANS: C
Unlike DNA sequence mutations, which cannot be directly altered, epigenetic
modifications can be reversed. The remaining options are not true statements regarding the
difference between DNA sequence mutations and epigenetic modifications.
PTS: 1
REF: Page 186
7. Which term refers to the silenced gene of a gene pair?
a. Activated
c. Mutated
b. Altered
d. Imprinted
ANS: D
Gene silencing, a process during which genes are predictably silenced, depending on
which parent transmits them, is known as imprinting; the transcriptionally silenced genes
are then said to be imprinted. The remaining options do not accurately identify this
process.
PTS: 1
REF: Page 187
8. The shape of the face of a child diagnosed with Russell-Silver syndrome is likely to be:
a. Round
c. Triangular
b. Square
d. Elongated
ANS: C
Growth retardation, proportionate short stature, leg-length discrepancy, and a small,
triangular-shaped face characterizes Russell-Silver syndrome. The other face shapes are
not characteristic of Russell- Silver syndrome.
PTS: 1
REF: Page 188
9. Genes responsible for the maintenance of all cells are referred to as:
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