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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 Prader-Willi syndrome.
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.

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 overexpression 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:
a. Universal
c. Housekeeping

b. Managerial

d. Executive

ANS: C

A small percentage of genes, termed housekeeping genes, are necessary for the function and
maintenance of all cells. The remaining options do not accurately refer to these cells.
PTS: 1

REF: Page 184

10. What is the belief regarding twins who adopt dramatically different lifestyles?
a. They may experience very different aging processes.
b. They will retain very similar methylation patterns.
c. They will experience identical phenotypes throughout their lifespans.
d. They may never demonstrate similar DNA sequences of their somatic cells.
ANS: A

Twins with significant lifestyle differences (e.g., smoking versus nonsmoking), accumulate
large numbers of differences in their methylation patterns. The twins, despite having identical
DNA sequences, become more and more different as a result of epigenetic changes, which in
turn affect the expression of genes. These results, along with findings generated in animal
studies, suggest that changes in epigenetic patterns may be an important part of the aging
process. They will not experience identical phenotypes throughout their lifespans.
PTS: 1

REF: Page 185

11. Hypomethylation and the resulting effect on oncogenes result in a(an):


a. Decrease in the activity of the oncogene, thus suppressing cancer development
b. Deactivation of MLH1 to halt DNA repair
c. Increase in tumor progression from benign to malignant
d. Over-expression of microRNA, resulting in tumorigenesis
ANS: C

Tumor cells typically exhibit hypomethylation (decreased methylation), which can increase
the activity of oncogenes. Hypomethylation increases as tumors progress from benign
neoplasms to malignancy. Only the correct option accurately describes hypomethylation and
its resulting effects.
PTS: 1

REF: Page 186

12. When a chromosome lacking 4 Mb is inherited from the mother, the child is at risk for

developing which syndrome?


a. Prader-Willi
b. Angelman

c. Beckwith-Wiedemann
d. Russell-Silver

ANS: B

This anomaly illustrates the inheritance pattern of Angelman syndrome, which can be caused
by a 4 Mb deletion of chromosome 15q when inherited from the mother. The anomaly is not
the cause of any of the other options.
PTS: 1
MULTIPLE RESPONSE

REF: Page 187

13. A childs diagnosis of Beckwith-Wiedemann syndrome is supported by the presence of:

(Select all that apply.)


An omphalocele
Neonatal hypoglycemia
Creased earlobes
Low birth weight
A large tongue

a.
b.
c.
d.
e.

ANS: A, B, C, E

Beckwith-Wiedemann syndrome is usually identifiable at birth because the child exhibits a


large size for gestational age, neonatal hypoglycemia, a large tongue, creases on the earlobe,
and omphalocele.
PTS: 1

REF: Page 188

14. A diagnosis of Angelman syndrome in a child is supported by which assessment findings?

(Select all that apply.)


Small feet and hands
Profound cognitive dysfunction
Obesity
Ataxic gait
History of seizures

a.
b.
c.
d.
e.

ANS: B, D, E

A child diagnosed with Angelman syndrome demonstrates a characteristic posture, bouts of


uncontrolled laughter, severe mental retardation, seizures, and an ataxic gait.
PTS: 1

REF: Page 187