Lecture 1:

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair.

Hepatitis is a disorder characterized by inflammation of the liver. If it is caused by the

hepatitis A virus, we would classify its etiology as inherited.

[continued from previous statement] If it is caused by excessive alcohol

consumption, we would classify its etiology as acquired, given that it negatively affects
the storage and distribution of nutrients.

[continued from previous statement] If it is caused by the abuse of medications, we

would classify its etiology as a nutritional deficiency, given that it is a chemical causing
the disorder.

An atrial septal defect, whereby blood can be moved between atrium through the
foramen ovale, can present in neonates. We would classify its etiology as
degenerative.

Mounting evidence points to a specific cause of Guillain Barre syndrome. Researchers

have demonstrated that it is triggered by a viral infection that stimulates the immune
system to degrade the myelin sheath of the nerves. This suggests two etiological
classifications: degenerative and idiopathic.

Sepsis can lead to kidney failure, which is reversible if sepsis is treated; this
demonstrates that kidney failure is a symptom of sepsis.

On the other hand, paralysis resulting from a stroke is permanent, even after the
manifestations of the stroke have resolved; this demonstrates that paralysis, resulting
from stroke, is a syndrome (synonym for morbidity).

Chickenpox outbreaks commonly occur locally, and do not experience large seasonal
increases in infectious rates; this suggests this infectious disease is epidemic.

Locally, we see an increase in influenza infections in the fall when temperatures cool
and humidity falls. Since these outbreaks do not occur globally and infectious rates
remain low, this suggests influenza is endemic.

A malignant neoplasm that is not detectable but likely to progress can be clinically
classified as a clinical disease, while a benign neoplasm that isn’t apparent and not
likely to progress can be clinically classified as preclinical.

Lung and bronchus cancers represent ~13% of all cancers in Canada. 32,100
Canadians will be diagnosed with lung and bronchus cancer; this represents its
[prevalence // incidence]. Information about the number of Canadians currently living
with lung cancer, i.e. its [prevalence // incidence], is not publically available.

In order to stave off sugar-related disorders, including type 2 diabetes and

cardiovascular diseases, provincial governments have enacted marketing campaigns
aimed towards helping people make better choices. Sugar tax laws will help pay for
these initiatives. This scenario is an example of [blank] prevention.

A patient comes into the hospital after a car accident with thoracic contusions that
appear to have damaged the chest wall. They have difficulty breathing. Healthcare
professionals help stabilize the patient to prevent respiratory failure. This scenario is an
 example of [blank] prevention.

The federal government of Canada pledges to improve road safety by implementing a

marketing campaign aimed at deterring driving while inebriated, driving while tired, and
speeding. This scenario is an example of [blank] prevention.

Colorectal cancers are on the rise in Canada, and health professionals recommend
lowering the age for cancer screening, so that people in their forties get colonoscopies
and detect early stages of cancers. This scenario is an example of [blank] prevention.

Answers: infectious, metabolic, physical agent induced, congenital, [infectious and immunological],
complication, sequelae, endemic, epidemic, [preclinical, subclinical], incidence, prevalence], primary, tertiary,
primary, secondary.
Lecture 2:

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

During pregnancy, the endometrium thickens in response to hormonal stimulation. This

increase in size is typically caused by cell division, so this cellular adaptation is
considered hypertrophy.

During heart failure, the heart tries to compensate for a smaller stroke volume by
increasing its rate of contraction. As a result, the cells increase in size, so this cellular
adaptation is considered hyperplasia.

In postmenopausal women, the endometrium can experience hypoplasia; a loss of

cells. However, it more commonly experiences a decrease in size resulting from
decreasing cell size, so this cellular adaptation is considered hypertrophy.

In Barett’s esophagus, acid from the stomach reaches the esophagus closest to the
cardiac portion of the stomach. The cells of the esophagus change from a squamous
epithelium to a glandular epithelium to secrete mucus. This cellular adaptation is
considered dysplasia.

Metaplasia has no known physiological stimuli, only pathological stimuli, and is most
likely to result in neoplasm.

When the muscles permanently lose nervous stimulation, as in a spinal cord injury,
they decrease in size. This presents as dysplasia.

Combustible compounds in cigarette smoke stimulate atrophy as these compounds

cause the transformation of the simple ciliated columnar epithelium into a stratified
squamous epithelium.

Hydrogen peroxide (O2-) is a reactive oxygen species commonly created by normal

metabolic reactions in the mitochondria.

Oxidative stress occurs as free radical production overwhelms the capacity of our
reactive oxygen species to neutralize them.

Enzymatic antioxidants, like vitamin E, are commonly found in the peroxisomes of our
cells and help neutralize free radicals.

Hypoxia decreases oxygen availability to our cells, which can result in [anaerobic //
aerobic] forms of respiration, which in certain cells like muscles, leads to ATP
depletion.

Without appropriate levels of ATP production, the Na+/K+ ion pump cannot work at
capacity, resulting in [sodium // potassium] accumulating inside the cell.

As the ion in the previous statement remains inside the cell, [blank] follows and enters
the cells to cause cellular edema.

For calcium pumps requiring ATP, hypoxia can also affect their activity. The
accumulation of calcium [inside // outside] the cell can result in the increased activity of
endonucleases (which can deplete further ATP levels).

Dry gangrene represents a coagulative necrosis, whereby the cells display [shrinking //
 swelling], leakage of intracellular contents, and inflammation.

Phospholipases are enzymes that are part of two converging signaling pathways that
regulate apoptosis.

The release of coenzyme A from the mitochondria can trigger apoptosis via the
intrinsic pathway.

When a neuron loses its connection to its effector, it performs apoptosis by first
[shrinking // swelling], then fragmenting and being phagocytosed by phagocytes.

Answers: hyperplasia, hypertrophy, atrophy, metaplasia, dysplasia, atrophy, metaplasia, superoxide,

antioxidants, [superoxide dismutase - more than one answer can apply], anaerobic, sodium, water, [inside,
ATPases], swelling, caspases, cytochrome c, shrinking.
Lecture 3:

For the following DNA strand, label the following: 3’ end, 5’ end, lagging strand, leading strand. Add the
complementary deoxyribonucleotides in the newly formed daughter strands. The structures labeled by the
asterisk (‘*’) represent the primers. Consider which nucleotides belong on these primers given that they’re
made of ribonucleotides, not deoxyribonucleotides.
The first gene in the list below is a non-mutated gene. Fill in the nucleotides in the template strand and
transcript, and translate the transcript into a polypeptide using the genetic code. For the second and third
sequences, these are mutated versions of the first gene. Fill in the nucleotides and amino acids, and identify
the mutation type (base pair substitution, deletion, or insertion) and subtype (missense, nonsense, or silent).
Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

A common single-base pair mismatch occurs when a(n) adenine is replaced with a
thymine, and during replication, what was once a G-C pair, can now be changed to an
A-T pair.
A gene may have more several alleles (i.e. more than two). An individual can only have
one allele(s).
An individual born from a homozygous dominant parent and a heterozygous parent will
display the [dominant // recessive] trait.
Chromosomal aberrations occur as large portions of chromosomes are lost, duplicated,
or translocated; whereas mosaicisms describe events that cause the gain or loss of
chromosomes.
Humans are diploid organisms, which implies we have [blank] copies of each gene; the
exception being on autosomes, as in males.
Nondisjunction mutations occur in the absence of mutagens when our endogenous
DNA repair mechanisms fail to correct mistakes in our DNA.
The compounds in cigarette smoke are considered physical mutagens, and over time,
will cause the respiratory epithelium to adapt by triggering dysplasia.

The locus of a gene is located at 3p13. This gene is found on the [long // short] arm of
chromosome [blank].
Viruses that cause DNA damage and cancers, human papillomavirus, are commonly
categorized as chemical mutagens.

Answers: cytosine, two, dominant, aneuploidies, [two, sex chromosomes], Spontaneous, [chemical,
metaplasia], [short, 3], biological.
Lecture 4:

Be sure to review the genetics problems in the “PRACTICE MATERIALS” folder in Moodle will be useful. In the
table below, some of the statements are false; correct the underlined word to make the statement true. For
others, choose the correct word in the pair or fill-in-the-blank.

A biological female born from a homozygous recessive parent and a hemizygous

dominant parent will display the [dominant // recessive] trait.
Biological males receive their X chromosome from their [father // mother].

In cystic fibrosis, the CFTR codes for a dysfunctional potassium channel causing a thick
mucus to accumulate along the respiratory track.
In patients with sickle cell anemia, the gene coding for the beta subunit of hemoglobin
commonly contains a silent mutation.
Mucus accumulations in cystic fibrosis can block passageways in the uterine tubes to
cause malabsorption.
Phenylketonuria is a metabolic condition whereby tyrosine accumulates in the blood
and tissues, so screening is important at birth.
Spontaneous bleeding is a common sequela of hemophilia, while infusion of
hemoglobin is a popular treatment.

Lecture 4 answers: dominant, mother, chloride, missense, pancreas, phenylalanine, [complication, clotting
factor VIII]
Lecture 5

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

A mitochondrial disorder is the result of a mutation in not only the

mitochondrial genes that influence metabolic processes but also those
that influence checkpoint signaling.
In a male with a mitochondrial disorder, the disorder [will // will not] be
passed onto their children because only the [father’s // mother’s] gametes
contribute the mitochondria to the zygote.
In individuals with familial hypercholesterolemia that are homozygous
dominant, 5% of individuals experience infarction in infancy, while 15%
experience infarction during adolescence. This displays [expressivity //
penetrance] of this disorder.
In individuals with similar genotypes, the presence or absence of a
disorder is an example of a disorder’s [expressivity // penetrance].
That a disorder can progress differently from one individual to another, i.e.
the pace of multiple sclerosis progression, is an example of a disorder’s
[expressivity // penetrance].
Individuals with Marfan syndrome must be homozygous recessive. If 8
out of 10 individuals with this genotype have the syndrome, the genotype
is 80% [expressive // penetrant]
Schizophrenia is an example of a single gene disorder, as the
environment in which an individual is raised is as influential as their
genes.
There are approximately 15 mitochondrial genes that influence the
metabolic function of the mitochondria; the rest of these genes are found
in a cell’s endoplasmic reticulum.

Answers: apoptotic, [will not, mother’s], expressivity, penetrance, expressivity, penetrant, multifactorial,
nucleus.
Lecture 6

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

A nondisjunction event during telophase of meiosis or mitosis can result in an

aneuploidy.
After meiosis 1, the resulting cells are considered [diploid // haploid].

Synapsis results from a nondisjunction event in mitosis or meiosis.

[Blank] are duplicates of a chromosome and disappear after anaphase 2.

During meiosis, an S phase occurs before [meiosis 1 // meiosis 2 // meiosis 1 and 2]

During anaphase 1, the process whereby maternal and paternal chromosomes are
randomly oriented along the midline is called crossing over.

During metaphase 2, the tetrads align at the metaphase plate.

During prophase 2, duplicated homologous chromosomes align to form tetrads.

Fertilization by a sperm cell that experiences an aneuploidy event resulting in an XY

chromosomal profile would produce a zygote displaying Jacob’s syndrome.

Fertilization by a sperm cell that experiences an aneuploidy event resulting in no sex

chromosome would produce an embryo displaying Down’s syndrome.

In the previous statement, the syndrome in the resulting embryo [would // would not]
display mosaicism.
In a patient displaying mosaicism for a given disorder, the manifestations of this disorder
are likely to be [less // more] severe.
In an XO individual displaying mosaicism, an early monosomic cell was likely created
[after // before] fertilization.
In certain cancers, portions of a chromosome are moved to another, resulting in genes
that are more active; we call this translocation.
In certain chromosomal aberrations, as in Cri-du-chat, portions of a chromosomal are
lost; we call this a deletion.
In other cancers, regions of a chromosome may appear more than once, copied in
sequence; we call this duplication.
The arms of [non-sister // sister] chromatids in a tetrad cross-over.

The process of forming a tetrad is called [chiasma // synapsis], while the region where
chromatid arms cross is called a [chiasma // synapsis].

Answers: anaphase, haploid, aneuploidy, Chromatids, meiosis 1, [metaphase 1, independent assortment],

sister chromatids, prophase 1, Klinefelter’s syndrome, Turner syndrome, would not, less, after, translocation,
deletion, duplication, non-sister, [synapsis, chiasma]
Lecture 7

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

A common property of malignant tumor cells is metaplasia, a process commonly

associated with nuclear polymorphism, changes in cell size, and a lack of
differentiation
Acute myeloid leukemia is a [liquid // solid] tumor derived from erythrocytes, but not
lymphocytes.
Benign tumors are commonly encapsulated, which prevents the metastases of
adjacent tissues in the primary cancer site.
Breast Cancer Type 1 susceptibility protein (BRCA1) acts as a checkpoint protein in
response to chromosomal damage. This gene is commonly mutated in breast cancers,
and it is considered a(n) [oncogene // tumor-suppressor gene].

Cell adhesion molecule 1 (CADM1) is a cell adhesion molecule that helps anchor cells
together, and, if a cell becomes detached, triggers apoptosis. As such, it is considered
a(n) [oncogene // tumor-suppressor gene].

DNA mismatch repair protein Msh2 is a housekeeping gene responsible for correcting
base mismatches and is commonly mutated in colorectal cancers. It is considered a(n)
[oncogene // tumor-suppressor gene].
Liposarcoma is a neoplasm originating in adipose tissue. It is a sarcoma because it is
derived from muscle tissue.
Pancreatic adenocarcinomas are the most common forms of pancreatic cancers.
Adenocarcinomas are derived from cells making up the [blank] of organs.

Squamous cell carcinoma describes a neoplasm with characteristics related to

squamous cells, like keratinocytes; it is a carcinoma because it is derived from nervous
tissue.
The gene coding for epidermal growth factor is commonly mutated in breast and
gastrointestinal cancers. This growth factor stimulates a cell to grow and divide, as
such, it is considered a(n) [oncogene // tumor-suppressor gene].

The gene coding for Raf kinase is commonly mutated in ovarian and colorectal
cancers. This kinase activates the ERK1/2 pathway to push a cell through the cell
cycle, as such, it is considered a(n) [oncogene // tumor-suppressor gene].

Transforming growth factor alpha is polypeptide that activates pathways to stimulate

cell proliferation. In certain cancers, its gene is mutated such that its activity is
upregulated. In this case, [only one // two] copy(ies) must be mutated as it is a(n)
[oncogene // tumor-suppressor gene].

Tumor protein P53 (p53) is responsible for triggering apoptosis if DNA damage is
irreparable. It is frequently mutated in most human cancers, and it is considered a(n)
[oncogene // tumor-suppressor gene].
 When comparing the cells of benign and malignant tumors, benign cells are [less //
more] differentiated and [less // more] aggressive.

Answers: anaplasia, [liquid, leukocytes], invasion, tumor-suppressor gene, tumor-suppressor gene,

tumor-suppressor gene, connective tissue, ducts or glands, epithelial, oncogene, oncogene, [only one,
oncogene], tumor-suppressor gene, [more, less]
Lecture 8

Some of the following statements are false; correct the underlined word to make the statement true. For others,
choose the correct word in the pair or fill-in-the-blank.

[Radiation therapy // Chemotherapy] commonly irreparably damages a cell’s DNA,

while [radiation therapy // chemotherapy] commonly blocks a cell’s DNA synthesis
machinery.
A [negative // positive] surgical result suggests the tumor was likely completely
excised as the edges of the excised tissue include the tumor.
Cancer vaccines and drugs that stimulate the immune system are considered [blank]
therapies.
Chemotherapy and radiation therapy commonly target the [fastest // slowest] growing
cells; however, side effects are unavoidable because cells of the body also respond to
these therapies.
During a sentinel lymph node biopsy, pathologist must determine if nearby lymph
nodes have been [invaded // metastasized].
In hematogenous metastatic transport, cancer cells enter lymph via lymphatic
capillaries.
In the [blank] stage of cancer development, carcinogens irreversibly mutate genes,
and the severity and extent of these mutations is a consequence of the [blank] of the
carcinogen.
In the [blank] stage of cancer development, certain mutated genes offer some
selective or reproductive advantage to the tumor cell.
In the [blank] stage of cancer development, a tumor becomes malignant and
metastatic.
In the [blank] stage of cancer development, cells become more invasive and
accumulate significant morphological and biochemical changes.
In the [blank] stage of cancer development, cells are more sensitive to the effects of
growth-positive compounds.
Low-grade tumors typically display [less // more] differentiated cells.
Since blood circulated to the heart is first routed to the systemic circuit, secondary
tumor sites commonly occur in the lungs.
Surgical treatment is commonly recommended for [metastasized // non-metastasized]
cancer.
The TNM staging system stages a tumor according to the involvement of local lymph
nodes; the symbol used for these characteristics is [T // N // M].

The TNM staging system stages a tumor according to the presence of metastases;
the symbol used for these characteristics is [T // N // M].
The TNM staging system stages a tumor according to tumor size and invasiveness;
the symbol used for these characteristics is [T // N // M].
The walls of veins are [thicker // thinner] than arteries, so cancer cells commonly enter
the circulatory system via veins.
 Tumor grades are commonly established by examining the gross anatomical
characteristics of the tumor.
Tumor heterogeneity explains that tumors are composed of a diverse population of
cells, and for this reason, a [single // combination of] chemotherapeutic drug(s) is(are)
used to treat tumors.
When chemotherapy is after surgery, it is a(n) [adjuvant // neoadjuvant] therapy used
to kill any remaining tumor cells.
When radiation therapy is used before surgery, it is a(n) [adjuvant // neoadjuvant]
therapy used to decrease the size of the tumor.

Answers: [Radiation therapy, chemotherapy], positive, medical therapies, fastest, metastasized, lymphatic,
[initiation, exposure], initiation, progression, promotion, more, pulmonary, non-metastasized, N, M, T, thinner,
histological, combination of, adjuvant, neoadjuvant