C

O
Learning Modules in R
General Biology 2 E

S
U
B
J
E
C
T
CHAPTER 1:
 1. Mendel’s law of ___________________ states that some alleles are
dominant over other alleles.
A. independent assortment
B. dominance
C. segregation
D. recession

2. If an offspring is said to be homozygous recessive, which of the

following could be its genotype?
Directions: A. RrSs
B. TTss
Encircle the letter C. Tt
of the correct D. ss
answer.
3. If you wanted to determine the phenotype of an organism, what
procedure would you follow?
A. DNA sequence the parents
B. DNA fingerprint the organism
C. look at the physical characteristics of the organism
D. do a dihybrid cross
 4. Who is considered the father of genetics?
A. Charles Darwin
B. Gregor Mendel
C. James Watson
D. Francis Crick

5. Which is not a characteristic of homologous chromosomes?

A. Homologous chromosomes have the same length.
B. Homologous chromosomes have the same centromere position.
Directions: C. Homologous chromosomes have the exact same type of allele at the
same location.
Encircle the letter D. Homologous chromosomes pair up during meiosis I.
of the correct
answer. 6. If a black guinea pig (Bb) were crossed with a white guinea pig
(bb) what would be the resulting phenotypic ratio?
A. 0:1 black to white
B. 1:0 black to white
C. 1:1 black to white
D. 3:1 black to white
 7. Which does not contribute to genetic variation?
A. chromosome number
B. crossing over
C. Meiosis
D. random mating

8. In garden peas, purple flowers (P) are dominant to white (p) flowers, and tall plants
(T) are dominant to short plants (t). If a purple tall plant (PpTt) is crossed with a white
short plan (pptt), what is the resulting phenotypic ratio?
A. 1:1:1:1 purple tall to purple short to white tall to white short
B. 3:2 purple tall to purple short
Directions: C. 9:3:3:1 purple tall to purple short to white tall to white short
Encircle the letter D. All purple tall

of the correct 9. Which concept is considered an exception to Mendel’s law of independent

answer. assortment?
A. crossing over
B. gene linkage
C. Polyploidy
D. law of segregation
 10. Which of the following describes an organism that has two different alleles for a trait?
A. Heterozygous
B. Homozygous
C. Dominant
D. recessive

Directions:
Encircle the letter
of the correct
answer.
CHAPTER 1:

https://www.youtube.com/watch?v=v8tJGlicgp8
What is Genetics?
Genetics is the study of how traits such as hair
color, eye color, and risk for disease are passed
(“inherited”) from parents to their children.
Genetics influence how these inherited traits can
be different from person to person.
What is DNA?
DNA, or deoxyribonucleic acid, is the
hereditary material in humans and almost
all other organisms.

The information in DNA is stored as a

code made up of four chemical bases:
adenine (A), guanine (G), cytosine (C),
and thymine (T).
Pedigree Analysis
My Family Tree

https://www.youtube.com/watch?v=11s5Biyi9q4
 Overview:
In humans, somatic cells nuclei normally have 46
chromosomes in 23 pairs. Each pair consists of one
chromosome from the mother and one from the father.
Twenty-two of the pairs, chromosome numbers 1 to 22,
the autosomes, are normally homologous (identical in
size, shape, and position and number of genes).

The 23rd pair, the sex chromosomes (X and Y),

determines a person’s sex as well as containing
other functional genes. Women have 2 X
chromosomes (XX) in somatic cell nuclei; men
have one X and one Y chromosome (XY).
Concept in a box:
Many are curious as to how and why most of the family members
share common traits yet some members of the same family don’t
possess these traits or has the opposite. This lesson will help you
understand how you are connected to a certain family member by
identifying certain traits that are observable to many. By analyzing a
pedigree, we can determine genotypes, identify phenotypes, and
predict how a trait will be passed on in the future. The information
from a pedigree makes it possible to determine how certain alleles
are inherited: whether they are dominant, recessive, autosomal, or
sex-linked. But how do we really make a Pedigree? How would it
help us in understanding the variety or diversity of traits within a
single family?
Your Goals:
At the end of this lesson you are expected to:
• construct pedigrees and predict genotypes based on pedigree
analysis.
• make a Pedigree Analysis of your family using a simple
genetic trait.
Let’s imagine!
Your teacher gave you an assignment to draw your own family tree starting from
your Grandparents in both Mother and Father side. You wanted to submit a
unique family tree that would show connections between members of the family
in a different way instead of having the usual analysis.

While thinking of what you’re going to do, your brother who has a curly hair
suddenly asked you if you’re doing okay. Noticing the difference between you
and your brother’s hair, you quickly asked how was this possible? It is at this
moment where you decided to look at the common and the opposite traits in
your family to show connections between each members. But how are you
going to illustrate it? What system of analysis could help you and other people
understand the connections?
Vocabulary:

Allele
A version of a gene. Humans have 2 alleles of
all their autosomal genes; females have 2 alleles
of X- linked genes; males have one allele of X-
linked genes (and one allele of Y-linked genes).
Vocabulary:

Genotype
The gene pair an individual carries for a
particular trait symbolized with a pair of letters.
By convention, uppercase letter (eg. A) for a
dominant allele and lowercase letter (eg. a) for
the recessive allele. Any letter in the alphabet
may be used.
Vocabulary:
For a diploid organism with two alleles in a given
gene pair, genotypes may be written as:

i. Homozygous dominant, i.e. with two dominant

alleles (BB)
ii. Heterozygous, i.e. with a dominant and
recessive allele (Bb). The individual will show
the dominant phenotype.
iii.Homozygous recessive, i.e. with two recessive
alleles (bb)
Vocabulary:

Phenotype
The observable trait of an individual based on
its genotype. Examples: red flower, curly hair,
blood types (i.e. the blood type is the
phenotype).
Learn more!
Pedigree Analysis

A pedigree chart displays a family tree,

and shows the members of the family
who are affected by a genetic trait. This
chart shows four generations of a family
with four individuals who are affected by
a form of colorblindness
 Learn the symbols!
 Circles represent Females
 Squares represent Males
 Each individual is represented by:
-a Roman Numeral, which stands for the
generation in the family,
-a Digit, which stands for the number of
individual/s within the generation. (For
instance, the female at the upper left is
individual I-1.)
Learn the symbols!
 The “founding parents” in this family are the
female I-1 and the male I-2 in the first
generation at the top.
 A darkened circle or square represents an
individual affected by the trait.
 A diagonal line through a symbol indicates
that person is deceased.
Learn the symbols!
 A male and female directly connected by a
horizontal line have mated and has children.
These three pairs have mated in this tree: I-1
& I-2, II-2 & II-3, III-2 & III-3
 Vertical lines connect parents to their
children. For instance, the females, II-1 and
II-2 are daughters of I-1 and II-2
 The “founding family” consists of the two
founding parents and their children, II-1 and
II-2.
Let’s sum it up!
In this pedigree, the unaffected founding
mother, I-1, and affected founding father, I-2,
are parents to two affected daughters, II-1 and
II-2. The affected founding daughter II-2 and
the unaffected male II-3 who “marries into the
family” have two offspring, an unaffected
daughter III-1 and affected son, III-2. Finally,
this affected male III-2 and the unaffected
female III-3 who “marries in” have an
unaffected son, IV-1
It runs in the Family
When more than one individual in a family is afflicted
with a disease, it suggests that the disease might be
inherited. A basic method for determining the pattern
of inheritance of any trait, including a disease, is to
look at its occurrence in several individuals within a
family, spanning as many generations as possible.
Family history information is usually combined with
information from medical tests, increasingly
including genetic tests. From family history and
medical test results, a physician, genetic counselor, or
researcher can draw a pedigree. A pedigree is simply
a family tree that uses a particular set of standardized
symbols.
Practice!
Q1. Individual II-5 in the pedigree shown to
the right is:
A. A male who does not exhibit the trait.
B. A father.
C. Has three affected siblings.
D. All of the above
Practice!
Now let’s look at a larger pedigree

This large pedigree was collected from an extended family all living in a small town
Practice!
Q2. This disease is very severe and strikes early in
childhood.
A) True B) False
Q3. This large pedigree shows a dominant trait
because:
A) Mostly males are affected.
B) The family is very large.
C) The trait shows up every generation.
D) Filled symbols always show dominance.
Spinocerebellar Ataxia (SCA1)
A condition characterized by progressive problems
with movement. People with this condition initially
experience problems with coordination and balance
(ataxia). Other signs and symptoms of SCA1 include
speech and swallowing difficulties, muscle stiffness
(spasticity), and weakness in the muscles that control
eye movement (ophthalmoplegia). Eye muscle
weakness leads to rapid, involuntary eye movements
(nystagmus). Individuals with SCA1 may have
difficulty processing, learning, and remembering
information (cognitive impairment).

https://www.youtube.com/watch?v=lMN2_t-sx54
The pedigree shows a large extended family affected by SCA1, a dominant disease that
disrupts parts of the nervous system. Most individuals born with SCA1 begin life with
normal motor control. As the disease progresses, balance and movement become
increasingly affected. There has been a mystery surrounding the age of onset and severity
of symptoms for SCA1. Each generation, individuals are affected by the disease at a
younger age, and symptoms are more severe.
Practice!
What might account for the increasing severity and earlier onset of SCA1 each
generation?

A) There’s toxic waste in the town that is getting worse each year.

B) Doctors have become more aware of SCA1 and are diagnosing the disease in children
earlier than they did in the past.

C) People in the town are using their nervous systems in more challenging ways, making
symptoms seem more severe.

D) The mutation in the SCA1 gene is dynamic and changes each generation to cause a
more severe form of the disease.
Genetic Testing
A type of medical test that identifies changes in
chromosomes, genes, or proteins. The results of
a genetic test can confirm or rule out a
suspected genetic condition or help determine a
person's chance of developing or passing on
a genetic disorder.
Opinion Poll
There is no cure for SCA1. Treatments include devices that aid patients’
balance, and limited therapies for some of the symptoms.
Since there is no cure for SCA1, why should family members be encouraged
to have a genetic test?
A) Because having the genetic data from these families will help
research into the disease.
B) Early detection of the disease can help families cope better with
affected relatives.
C) The information could help individuals decide about marriage and
children.
D) Relatives should not be encouraged to take a genetic test for
mutated SCA1.
Colon Cancer
Colorectal cancer is a cancer that starts in the
rectum or colon. Both of these organs are in the
lower portion of your digestive system.
The colon is also known as the large intestine.
The rectum is at the end of the colon.

https://www.youtube.com/watch?v=fW4Y_poPPxg
Practice!
Most colon cancers occur sporadically–meaning
the disease is not seen to run in families. There
is, however, a form of colon cancer that is
inherited, called FAP—Familial Adenomatous
Polyposis.

A 19-year old girl has been diagnosed with FAP

(arrow). Her father and her grandmother died of
colon cancer. She has four siblings whose risk
for FAP has not been determined.
Opinion Poll
The girl should:

A) Tell her sibs to get an APC gene test.

B) Suggest to her sibs that they visit her genetic counselor.

C) Show them the scary pictures from her endoscopy.

D) Keep her FAP diagnosis private from her family.

Let’s look at another case
In this case, each sibling decided to be tested for
the mutant APC gene. A sister and brother were
found to be at high risk for FAP (filled
symbols).
At the molecular level, FAP is known to be a
recessive disease—both copies of APC have
to be mutated for cancer to be initiated.
The FAP pedigree, however, has the
appearance of a dominant trait: Each
generation has affected individuals.
Practice!
Q5. Why does FAP appear to be dominant?

A) Although individuals inherit only one mutant copy of APC, the odds of a mutation
occurring in the other copy are high.

B) The pedigree is small, and looks dominant because of random chance.

C) The father inherited a particularly bad form of the gene.

D) The siblings were probably raised in an environment with many cancer-causing

agents.
Practice!
Practice!
1. Look at the family of IV-9 and IV-10. If the trait is dominant, is it possible for them to
have an affected offspring?

2. If the trait is recessive, is it also possible for IV-9 and IV-10 to have an unaffected
offspring?

1. Based on your answers for a) and b), is the trait dominant or recessive?
Practice!
4. Give the genotypes of the following:
a) IV-9
b) IV-10
c) V-1
d) I-1
e) I-2

5. If IV-9 and IV-10 were to have another child, what is the probability that they will have
an affected offspring?
Practice!
Practice!
1. Is this trait dominant or recessive?

2. What are the most probable genotypes of I-3 and I-4?

3. What are the most probable genotypes of II-4 and II-5?

4. What is the probability that II-4 and II-5 will have another normal offspring?
Practice!
Practice!
1. Is the trait dominant or recessive?

2. What are the most probable genotypes of I-2 and I-3?

3. What is the probability that II-2 is Dd?

4. What is the probability that II-1 and II-2 will have another normal offspring?

https://www.youtube.com/watch?v=mUr_ezQv1sY
Let’s Apply!
Construct a pedigree of an authentic family tree using any of the following traits:
I. With (dominant) or without finger hair (recessive)
II. Normal (dominant) or hitchhiker’s thumb (recessive)
III.Widow’s peak (dominant) or straight hairline (recessive)
IV. Free (dominant) or attached earlobe (recessive)
V. Curly (dominant), wavy (heterozygous) or straight (recessive) hair
 Resources:
 Khan Academy ‘Pedigree for determining probability of exhibiting sex linked recessive trait’
KhanAcademy.Org https://www.khanacademy.org/science/high-school-biology/hs-classical-
genetics/hs-pedigrees/v/pedigree-for-determining-probability-of-exhibiting-sex-linked-
recessive-trait
 Biology LibreTexts ‘Pedigree Analysis’
https://bio.libretexts.org/Bookshelves/Genetics/Book%3A_Online_Open_Genetics_(Nickle_an
d_Barrette-Ng)/05%3A_Pedigrees_and_Populations/5.1%3A_Pedigree_Analysis
 Klug WS, Cummings MR, Spencer CA, Palladino MA.2012. Essentials of genetics. 8th ed.
Benjamin Cummings;2012. 624 p.
 Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. 2012. Campbell
biology, 9th ed. The Benjamin Cummings Publishing Co., Inc: 2012. 1464 p.
 Bennett RL, Steinhaus KA, Uhrich SB, O’Sullivan CK, Resta RG, Lochner-Doyle D, Markel
DS, Vincent V, Hamanishi J. Recommendations for standardized human pedigree
nomenclature. Am J Human Genet. 1995; 56:745-752.