BIO 1stFF

General Biology 1/2
Science, Technology, Engineering, and Mathematics

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3
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Lesson 1.1
Mendelian Laws of
Inheritance
General Biology 2
1/2
What traits run in your
family? What did you
inherit from your
parents? What makes
your family distinct
from other families?
7
How well do you resemble your siblings? Do you
share the same facial features and complexion?
8
Some of you may have
inherited a widow’s
peak and the ability to
roll your tongue from
your either or both of
your parents, while
some of you may lack
these genetic traits.
9
Inheritance may also
involve more complex
traits such as the
intelligence quotient
level or IQ level. From
whom do you think you
inherited your natural
intelligence?
10
How did the experiments of
Gregor Mendel lay the
foundation for the study of
transmission genetics?
11
Learning Competency
At the end of the lesson, you should be able to do the following:
Predict genotypes and phenotypes of parents

and offspring using the laws of inheritance
(STEM_BIO11/12-IIIa-b-1).
12
Introduction to Inheritance
Looking at
yourself in the
mirror...
13
...have you ever

wondered how
you have
inherited your
biological traits
from your
parents?
14
...have you ever

wondered how
you have
inherited your
biological traits
from your
parents?
15
Genetics answers
most of our inquiries
about how traits are
transmitted from
parents to their
children.
16
Genetics
Heredity Variation
17
Genetics
Heredity Variation
18
Genetics
Heredity Variation
19
Genetics
Heredity Variation
20
Molecular genetics Cytogenetics
Branches
of Genetics
Transmission genetics Population genetics

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deals with DNA and
gene expression and
regulation.
Branches
of Genetics

22
Molecular genetics Cytogenetics deals with

chromosome structure and
behavior during cell
division.
Branches
of Genetics

23
Branches
of Genetics
Transmission genetics
deals with different
patterns of inheritance. Population genetics
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Branches
of Genetics Population genetics
deals with how
forces of evolution
influence genes in
Transmission genetics populations.
25
Transmission genetics, also called classical genetics, is the oldest

subdiscipline of genetics. It attempts to predict outcomes of reproduction.
26
Brief Background of Gregor Mendel
Farm Father of
Tender Genetics
Augustinian
Beekeeper
Academician Monk
27
Brief Background of Gregor Mendel
Mendel took the path to

priesthood when he
entered Augustinian
monastery of St.
Thomas and became
monk. This is also
where he performed his
pea plant studies.
28
Pea Plant Hybridization
Mendel chose
the legumes
garden peas or
Pisum sativum
for his
hybridization
experiments.
29
30
What makes
peas ideal
for genetic
studies?
31
They
What makes exhibit
peas ideal
for genetic vigorous
studies? growth.
32
They can
self-
fertilize.
They
What makes exhibit
peas ideal
for genetic vigorous
studies? growth.
33
They can
self-
fertilize.
They
What makes exhibit They can
peas ideal
for genetic vigorous cross-
studies? growth. fertilize.
34
Challenges faced by Mendel
Pangenesis
Previous Notions Homunculus

of Inheritance theory
Blending
theory
35
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory
36
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory Pangenesis was the belief that seeds are
produced in different organs and will later
on gather to form the offspring. 37
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory The invention of the microscope made
people believe that sperm cells bear a
homunculus or little man. 38
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory The blending theory of inheritance states
that traits of parents blend every
generation of offspring. 39
Rediscovery of Mendel’s Work
Hugo de Vries Carl Correns Erich von Tschermak

(1848–1935) (1864–1933) (1871–1962)
Mendel’s paper, The Experiments on Plant Hybridization, was rediscovered

independently by de Vries, Correns, and von Tschermak in 1900s. 40
What makes Pisum sativum an
ideal model organism for
genetic studies?
41
Review of Genetic Terminologies
A chromosome consists of a
DNA molecule, which serve as
the repository of genetic
information in cells.
Our chromosomes occur in pairs

called homologous chromosomes.

Paternal (from the father or male parent)


Paternal (from the father or male parent)
Maternal (from the mother or female parent)

A gene is the basic unit of heredity.

It controls the expression of a
biological characteristic.
A gene is the basic unit of heredity.

It controls the expression of a
biological characteristic.
A characteristic is a heritable
feature of an organism.
In our given example, the gene

controls height of peas.
Also, note that genes occur in pairs.

Thus, a pair of genes control a
particular characteristic.
How about this gene pair?

What does it control?
How about this gene pair?

What does it control?
The highlighted gene

controls seed shape in peas.
Alleles are
the alternative
forms of a
gene.
Genotype refers to the set of alleles

possessed by an organism.
The genotype is
homozygous if
the alleles are
identical.
The genotype is
heterozygous if
the alleles are
different.
Let’s say that the given chromosomes give

rise to the following observable traits:
Tall Round-seeded
Let’s say that the given chromosomes give

rise to the following observable traits:
Tall Round-seeded
Phenotypes refer to the actual manifestation
of genotypes into observable traits.
If the phenotype for seed shape is round, then

we can conclude that:
If the phenotype for seed shape is round, then

we can conclude that:
The allele for round pea is

the dominant allele.
The allele for wrinkled pea is

the recessive allele.
Pea Plant Characters
Gregor Mendel utilized seven characteristics of peas in his

hybridization experiments. Each exists in two variants. 60
How are the alleles of a gene
transmitted from parents to
offspring?
61
Monohybrid Cross
A monohybrid cross is a mating between two individuals

involving one characteristic or one pair of contrasting traits. 62
Monohybrid Cross
In this example, the height of

pea is involved.
63
Monohybrid Cross

pea is involved.
The parents have contrasting

traits (i.e., tall and dwarf).
64
Monohybrid Cross

pea is involved.
The parents have contrasting

traits (i.e., tall and dwarf).
Both parents must also be true-

breeding or homozygous.
65
Monohybrid Cross
P generation
F1 generation
F2 generation
66
Monohybrid Cross
The parental generation

P generation consists of the true-
breeding initial parents.
F1 generation
F2 generation
67
Monohybrid Cross
P generation
The first filial generation

F1 generation consists of the offspring
of the P generation.
F2 generation
68
Monohybrid Cross
P generation
F1 generation
The second filial

F2 generation generation consists of
the offspring of F1 gen.
69
Monohybrid Cross
Result 1:
The dwarf trait
disappeared in the F1
generation.
70
Monohybrid Cross
P generation
Result 1:
The dwarf trait
generation.
F1 generation
71
Monohybrid Cross
P generation
Result 1:
The dwarf trait
generation.
F1 generation
Explanation:
Tall trait must be
dominant over the
dwarf trait.
72
Monohybrid Cross
Principle of
Dominance
In a heterozygous individual, one allele

(dominant) completely masks the
expression of the other allele (recessive).
73
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
74
Monohybrid Cross
Principle of
Dominance
T - tall
75
Monohybrid Cross
Principle of
Dominance
T - tall
t - dwarf
76
Monohybrid Cross
Principle of
Dominance
T - tall
t - dwarf
Thus, we will have the corresponding genotypes and phenotypes :
77
Monohybrid Cross
Principle of
Dominance
T - tall
t - dwarf
TT - tall
78
Monohybrid Cross
Principle of
Dominance
T - tall
t - dwarf
TT - tall Tt - tall
79
Monohybrid Cross
Principle of
Dominance
T - tall
t - dwarf
TT - tall Tt - tall tt - dwarf

80
Monohybrid Cross
Thus, we can have the genetic cross as follows:
81
Monohybrid Cross
Phenotypes Genotypes
P generation
F1 generation
F2 generation
82
Monohybrid Cross
P generation Tall × Dwarf
F1 generation
F2 generation
83
Monohybrid Cross
P generation Tall × Dwarf TT × tt
F1 generation
F2 generation
84
Monohybrid Cross

Phenotypic Ratio (PR): Genotypic Ratio (GR):
F1 generation
F2 generation
85
Monohybrid Cross

F1 generation 100% or All Tall
F2 generation
86
Monohybrid Cross

F1 generation 100% or All Tall 100% or All Tt
F2 generation
87
Monohybrid Cross

F2 generation 3/4 Tall: 1/4 Dwarf

88
Monohybrid Cross

F2 generation 3/4 Tall: 1/4 Dwarf 1/4 TT: 2/4 Tt: 1/4 tt
89
Monohybrid Cross
Result 2:
The phenotypes in the
F2 generation occur in
a ratio of 3:1.
90
Monohybrid Cross
F1 generation
Result 2:
a ratio of 3:1.
F2
generation
91
Monohybrid Cross
F1 generation
Result 2:
a ratio of 3:1.
F2
generation
92
Monohybrid Cross
F1 generation
Result 2:
a ratio of 3:1.
F2
Explanation: generation
The alleles are
segregating during
gamete formation.
93
Monohybrid Cross
Law of Segregation
The two alleles of a gene in an individual

segregate or separate from each other
during gamete formation.
94
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
95
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
96
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles
97
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t
98
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t
progeny
99
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt
100
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt Tt Tt
101
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt Tt Tt
102
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
alleles T T t t T t T t
progeny Tt Tt Tt Tt
103
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
progeny Tt Tt Tt Tt TT Tt
104
Monohybrid Cross
Law of Segregation
TT × tt Tt × Tt
progeny Tt Tt Tt Tt TT Tt Tt tt
105
Punnett Square
1. Write the given. Let’s apply Punnett

square to our P gen
2. Write the genotypes. cross.
3. Identify the alleles.
4. Draw the square.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios. 106

Punnett Square

square to our P gen
Tall × Dwarf
4. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
4. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
3. Identify the alleles. T T t t
4. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
4. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
3. Identify the gametes. T T t t
4. Draw the square.

T T
5. Distribute gametes.
6. Combine gametes. t
t
Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
4. Draw the square.

T T
6. Combine alleles. t Tt Tt
t Tt Tt
Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
4. Draw the square.

T T
(Tall) (Tall)
t Tt Tt
8. Determine ratios. (Tall) (Tall) 113
Punnett Square

square to our P gen
Tall × Dwarf
TT × tt
4. Draw the square.

T T
(Tall) GR: 100% Tt
(Tall)
7. Determine phenotypes. PR: 100% Tall
t Tt Tt
8. Determine ratios. (Tall) (Tall) 114
Punnett Square

square to our F1 gen
4. Draw the square.
6. Combine alleles.

Punnett Square

Tall × Tall
4. Draw the square.
6. Combine alleles.

Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.
6. Combine alleles.

Punnett Square

Tall × Tall
Tt × Tt
3. Identify the alleles. T t T t
4. Draw the square.
6. Combine alleles.

Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.
6. Combine alleles.

Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.

T t
6. Combine alleles. T
t
Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.

T t
6. Combine alleles. T TT Tt
t Tt tt
Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.

T t
6. Combine alleles. T TT Tt
(Tall) (Tall)
t Tt tt
8. Determine ratios. (Tall) (Dwarf) 122
Punnett Square

Tall × Tall
Tt × Tt
4. Draw the square.

T t
GR:
6. Combine alleles. T TT Tt 1/4 TT: 2/4 Tt: 1/4 tt
(Tall) (Tall)
7. Determine phenotypes. PR:
t Tt tt 3/4 Tall: 1/4 Dwarf
8. Determine ratios. (Tall) (Dwarf) 123
Dihybrid Cross
A dihybrid cross is a mating between two individuals involving

two characteristics or two pairs of contrasting traits. 124
Dihybrid Cross
125
Dihybrid Cross
In this example, the seed shape and

seed color are involved.
126
Dihybrid Cross

Two pairs of contrasting traits are

involved: round/wrinkled and
yellow/green.
127
Dihybrid Cross


yellow/green.

128
Dihybrid Cross


yellow/green.

All of the offspring in F1 have round

and yellow seeds due to dominance.
129
Punnett Square

square to our P gen
2. Assign alleles. cross.
3. Write genotypes.
5. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
3. Write genotypes.
5. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
3. Write genotypes.
5. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
3. Write genotypes. Seed shape:
4. Identify the alleles. Round seed is dominant over wrinkled seed.
5. Draw the square.
6. Combine alleles.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
5. Draw the square. R - round r - wrinkled
6. Combine alleles.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
6. Combine alleles. Seed color:
7. Determine phenotypes. Yellow seed is dominant over green seed.

Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
8. Determine ratios. Y - yellow y - green

136
Punnett Square

square to our P gen
Round,
yellow
× Wrinkled,
green
8. Determine ratios. Y - yellow y - green

137
Punnett Square
1. Write the given. Let’s apply Punnett Round,

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
3. Write genotypes.
5. Draw the square.
6. Combine alleles.
8. Determine ratios.
Punnett Square

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
3. Write genotypes. R r
Y y
5. Draw the square.
6. Combine alleles.
Punnett Square

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
Y y
4. Identify the gametes.
R R
5. Draw the square. Y Y
r
6. Combine alleles.
y
r
8. Determine ratios. y
Punnett Square

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
Y y
R R
r RrYy RrYy
6. Combine alleles.
y
r RrYy RrYy
Punnett Square

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
Y y
R R
r RrYy RrYy
6. Combine alleles.
y (round, yellow) (round, yellow)
r RrYy RrYy
8. Determine ratios. y (round, yellow) (round, yellow)
Punnett Square

yellow
× Wrinkled,
green
square to our P gen
RRYY × rryy
Y y
R R
r RrYy RrYy GR:
6. Combine alleles. 100% RrYy
y (round, yellow) (round, yellow)
7. Determine phenotypes. PR:
r RrYy RrYy
100% round,
8. Determine ratios. y (round, yellow) (round, yellow) yellow
Punnett Square

2. Write genotypes. cross.
4. Draw the square.
5. Distribute the alleles.
6. Combine alleles.
Punnett Square

yellow
× Round,
yellow
4. Draw the square.
6. Combine alleles.
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
4. Draw the square.
6. Combine alleles.
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
TIP: Use the branching technique.
4. Draw the square.
6. Combine alleles.
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
4. Draw the square. Rr Yy
R
6. Combine alleles.
r
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
5. Distribute the alleles. Y
R
6. Combine alleles. y
7. Determine phenotypes. Y
r
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
5. Distribute the alleles. Y
R
6. Combine alleles. y
7. Determine phenotypes. Y
r
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
R
5. Distribute the alleles. Y Y
R R
6. Combine alleles. y y
r
7. Determine phenotypes. Y Y
r r
8. Determine ratios. y y
Punnett Square

yellow
× Round,
yellow
RrYy × RrYy
R
5. Distribute the alleles. Y Y Thus, the
R R genotype
6. Combine alleles. y y RrYy has
r four possible
7. Determine phenotypes. Y Y gametes.
r r
8. Determine ratios. y y
Punnett Square
1. Write the given. RrYy × RrYy

2. Write genotypes.
4. Draw the square.
6. Combine alleles.
Punnett Square

R R r r
2. Write genotypes. Y y Y y
R
3. Identify the alleles. Y
4. Draw the square. R
y
r
6. Combine alleles. Y
7. Determine phenotypes. r
y
Punnett Square

R R r r
R RRYY RRYy RrYY RrYy
3. Identify the alleles. Y
4. Draw the square. R RRYy RRyy RrYy Rryy
y
r RrYY RrYy rrYY rrYy
6. Combine alleles. Y
7. Determine phenotypes. r RrYy Rryy rrYy rryy

y
Punnett Square

R R r r
3. Identify the alleles. Y round, round, round, round,
yellow yellow yellow yellow
round, round, round, round,
y
5. Distribute the alleles. yellow green yellow green

6. Combine alleles. round, round, wrinkled wrinkled
Y yellow yellow yellow yellow
round, round, wrinkled wrinkled,
y
yellow green yellow green
Punnett Square

R R r r
3. Identify the alleles. Y round, round, round, round,
yellow yellow yellow yellow
round, round, round, round,
y
5. Distribute the alleles. yellow green yellow green

6. Combine alleles. round, round, wrinkled wrinkled
Y yellow yellow yellow yellow
round, round, wrinkled wrinkled,
y
yellow green yellow green
Punnett Square

2. Write genotypes. Genotypic Ratio:
3. Identify the alleles. 1/16 RRYY 2/16 RrYY 1/16 rrYY
4. Draw the square. 2/16 RRYy 4/16 RrYy 2/16 rrYy
1/16 RRyy 2/16 Rryy 1/16 rryy
Phenotypic Ratio:
6. Combine alleles.
7. Determine phenotypes. 9/16 round, yellow 3/16 wrinkled, yellow

3/16 round, green 1/16 wrinkled, green
Dihybrid Cross
Result 2:
The phenotypes in the F2
generation occur in a ratio
of 9:3:3:1
159
Dihybrid Cross
Result 2:
of 9:3:3:1
160
Dihybrid Cross
Result 2:
of 9:3:3:1
Explanation:
The genes for seed shape
and color are independently
assorting.
161
Dihybrid Cross
Law of Independent Assortment
The alleles from different genes are sorted

into the gametes independently of each
other. Thus, the inheritance of these two
genes become independent.
162
Is the law of segregation still
applicable when two genes are
already involved? Why do you
think so?
163
Laws of Inheritance and Gametogenesis
Both laws of
inheritance operate
during the
Anaphase I of
meiosis during
gamete formation.
164
How is the separation of
homologous chromosomes
relevant to the laws of
inheritance?
165
Let’s Practice!
Brylle is fond of growing crops in his garden. One of the

crops that he cultivates is the garden pea (Pisum sativum).
One strain of his pea plants is heterozygous for flower
colors, with genotype Mm. Another strain of his peas has
smooth pods and axial flowers with genotype AaBB. What
are the alleles produced by each of these two plants with
respect to the indicated characteristics?
166
Let’s Practice!

167
Let’s Practice!

Plant 1 (Mm) produces gametes with alleles M and m, while

Plant 2 (AaBB) produces gametes with allele combinations
AB and aB.
168
Try It!
Nickson cultivated two different plants.

The first plant is recessive for trait A,
while the second plant is homozygous
dominant for trait B and heterozygous
for trait C. What are the allele
combinations that can be produced by
his first and second plants?
169
Try It!
Nickson cultivated two different plants.

The first plant is recessive for trait A,
while the second plant is homozygous
dominant for trait B and heterozygous
for trait C. What are the allele
combinations that can be produced by
his first and second plants?
170
Let’s Practice!
In pea plants, axial inflorescence is dominant over

terminal inflorescence. If Laiza crossed a parent plant
that is heterozygous for inflorescence to another plant
with terminal inflorescence, what are the genotypic and
phenotypic ratios of the offspring?
171
Let’s Practice!
In pea plants, axial inflorescence is dominant over

terminal inflorescence. If Laiza crossed a parent plant
that is heterozygous for inflorescence to another plant
with terminal inflorescence, what are the genotypic and
phenotypic ratios of the offspring?
172
Try It!
If a parent pea plant that is hybrid for

flower color is crossed with a plant that
is true-breeding for violet flowers, what
are the genotypic and phenotypic ratios
of the F1 generation? Note that having
violet flowers is dominant over having
white flowers.
173
Try It!
If a parent pea plant that is hybrid for

flower color is crossed with a plant that
is true-breeding for violet flowers, what
are the genotypic and phenotypic ratios
of the F1 generation? Note that having
violet flowers is dominant over having
white flowers.
174
Let’s Practice!
In pea plants, round seeds are dominant over wrinkled

seeds, while the tall trait is dominant over the dwarf trait.
If you cross two plants that are both heterozygous for
seed shape but homozygous dominant for height, what
are the expected genotypic and phenotypic ratios of the
offspring?
175
Let’s Practice!

offspring?
176
Let’s Practice!

offspring?
The genotypic ratio of the offspring of the cross is 1/4 RRTT:

2/4 RrTT: 1/4 rrTT. The phenotypic ratio is 3/4 round tall:
1/4 wrinkled tall.
177
Try It!
Gene A codes for seed color, where

having yellow seed is dominant over
having a green seed. Gene B codes for
pod shape, where the smooth pod is
dominant over the constricted pod.
Given the cross AaBB × AABb, what is
the genotypic and phenotypic ratio of
the offspring?
178
AaBB x AABb
AB AB aB aB x AB Ab AB Ab
AB AB aB aB
AB AABB AABB AaBB AaBB GR= 4 AABB: 4
(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth) AaBB: 4 AABb: 4
Ab AABb
(yellow,
AABb
(yellow,
AaBb
(yellow,
AaBb
(yellow,
AaBb
smooth) smooth) smooth) smooth)
AB AABB AABB AaBB AaBB

(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth)
PR= 16/16
Ab AABb AABb AaBb AaBb yellow, smooth
(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth)
(yellow,
smooth) 100%
179
K W L H
What I What I WANT What I HOW I
KNOW to know LEARNED learned
K-W-L-H
Chart
180
HOW TO DEAL WITH
UNMET EXPECTATIONS?
181
182
1. See the event as just one small blip in your
career or life—one unimportant moment in
time.
2. Don’t give the event too much importance.
3. Let it go…as fast as possible.
4. Get back to work.
5. Learn from the experience.
6. Forgive.
7. Let go of shame
183
Let’s Sum It Up!
● Genetics is the study of inheritance and variation

in organisms. It has various subdisciplines.
Transmission genetics is the one that is
particularly concerned about the mechanisms or
patterns of inheritance.
184
Let’s Sum It Up!
● Gregor Mendel is the father of genetics. He

performed experiments on garden pea or Pisum
sativum. This led him to formulate the laws of
inheritance in his publication, Experiments on Plant
Hybrids.
185
Let’s Sum It Up!
● Different genes control the expression of the

characteristics of organisms. Each gene exists in
alternative forms called alleles.
● In terms of expression, genes can either be

dominant or recessive. According to the principle
of dominance of Mendel, in a heterozygous
individual, the dominant allele tends to mask the
expression of the recessive allele. 186
Let’s Sum It Up!
● Mendel’s monohybrid cross reveals the law of

segregation. According to this law, the alleles
segregate during gametogenesis. This explains
the characteristic 3:1 phenotypic ratio of F2 in
monohybrid crosses.
187
Let’s Sum It Up!
● Mendel’s dihybrid cross reveals the law of

independent assortment. According to this law,
allele pairs from different genes separate
independently during gamete formation. This
explains the characteristics ratio of 9:3:3:1 of F2 of
dihybrid crosses.
188
Let’s Sum It Up!
Transmission genetics serves as the pioneer field in genetics.
189
Challenge Yourself
You crossed two true-breeding lines

of violet-flowered and white-
flowered peas. Is it possible to
establish a true-breeding line of the
genotype found in the offspring of
your cross? Why or why not?
190
Photo Credits
● Slide 4: Woman with widow's peak, cropped by Kdhondt is licensed under CC BY-SA 4.0 via
Wikimedia Commons.
● Slide 4: Rolled tongue flikr, cropped, by Gideon Tsang from Austin, USA is licensed under CC BY-SA
2.0 via Wikimedia Commons.
● Slides 17 to 21: India - Chennai - busy T. Nagar market 1 (3059480968) by McKay Savage from
London, UK, cropped, adjusted is licensed under CC BY 2.0 via Wikimedia Commons.
● Slide 24: StThomasAbbeyBrno by No machine-readable author provided, Parmesan~commonswiki

assumed (based on copyright claims) is licensed under CC BY-SA 3.0 via Wikimedia Commons.
● Slides 25 to 30: Starr 081009-0043 Pisum sativum var. Macrocarpum by Forest & Kim Starr is
licensed under CC BY 3.0 via Wikimedia Commons.
● Slide 25: Pisum sativum flowers J1 by Jamain is licensed under CC BY-SA 3.0 via Wikimedia
Commons.
191
Bibliography
Brooker, J. Concepts of Genetics (1st ed.). New York, USA: McGraw-Hill Companies Inc., 2012.
Klug, W.S, and Cummings, M.R. Concepts of genetics (6th ed). Upper Saddle River, N.J: Prentice-Hall.
2003.
Pierce, B. Genetics: a conceptual approach (8th ed). New York: W.H. Freeman. 2012.
Reece J., Taylor M., Simon E., and Dickey J. Campbell Biology: Concepts and Connections (7th ed.).
Boston: Benjamin Cummings/Pearson. 2011.
Snustad, D.P., and Simmons, M.J. Principles of Genetics (6th ed.). Hoboken, NJ: Wiley. 2012.
192
🧢 or ❌ 🧢
1.Gregor Mendel is the father of Genetics, but he
gained this title when he is already dead. ❌ 🧢
2.Transmission Genetics attempts to predict outcomes
of reproduction. ❌ 🧢
3.Pisum sativum is an ideal for genetic studies because
it can self-fertilize. ❌ 🧢
4.A chromosome is a basic unit of heredity. 🧢
5.Genetics deals with Heredity and Characteristics.
🧢 193
194
Learning Objectives
● Explain the foundations and development of

Mendelian genetics.
● Suggests ways on how to deal with unmet
expectations.
● Describe and apply the Mendelian laws of
inheritance using Punnett Square.
195
Lesson 1.1
Mendelian Laws of
Inheritance
General Biology 2
1/2
K W L H
What I What I WANT What I HOW I
KNOW to know LEARNED learned
K-W-L-H
Chart
197
Lesson 1.2
Using the Laws of

Inheritance to Predict
Genotypes and Phenotypes
General Biology 2
1/2
Have you tried playing
Snakes and Ladders
with your friends or
siblings? What
determines your
chances of winning?
199
When playing Snakes and
Ladders, your probability
of winning depends on
the outcomes of
throwing dice and the
random chances of
encountering snakes and
ladders.
200
Likewise,
biological
inheritance also
relies on certain
chances of
transmitting genes
from parents to
their offspring.
201
If you are given a plant with a
dominant trait, how would you
know if it is homozygous or
heterozygous?
202
Learning Competency

203
Learning Objectives
● Apply the laws of inheritance in identifying the

possible outcomes of genetic crosses.
● Compute for offspring probabilities in genetic

problems.
204
Dominance in Garden Peas
Dominance applies to the seven characters of garden peas such as

in the shape or texture of their seeds. 205
Use of Testcross
Determines Involves mating to an

genotype of the individual with the
individual with the recessive trait
dominant trait
TESTC
ROSS
Generates two Identifies

possible outcomes in homozygosity or
the crosses heterozygosity
206
Use of Testcross
CASE 1 CASE 2
F1
207
Use of Testcross
CASE 1 CASE 2
P Round × Wrinkled Round × Wrinkled
F1
208
Lesson 1.3
Pedigree Analysis
General Biology 2
1/2
Many model
organisms, such as
mice, zebrafish,
peas, and fruit
flies, make the
analysis of the
inheritance of
biological traits
convenient.
210
By contrast, due to various complications and ethical
considerations, studying the inheritance of human traits is
more challenging.
211
How can you compare the study
of inheritance in peas with that
in humans?
212
Learning Competency
This lesson serves as an enrichment for the following DepEd competency:

213
Learning Objectives
● Understand the importance of pedigrees in

studying inheritance in humans.
● Construct and analyze pedigrees involving

different genetic conditions in humans.
214
Studying Inheritance in Peas
Con
215
Con
Matings of
individuals
can be
controlled.
216
The
generatio
Con n time is
relatively
shorter.
Matings of
individuals
can be
controlled.
217
The
generatio
Con n time is
relatively
shorter. The
Matings of number of
individuals offspring
can be is
controlled. relatively
larger.
218
Handing
The the
generatio organism
Con n time is is more
relatively convenien
shorter. The t.
Matings of number of
individuals offspring
can be is
controlled. relatively
larger.
219
Studying Inheritance in Humans
Con
220
Con
Matings
can never
be done in
controlled
conditions
.
221
The
generation
Con time is
relatively
Matings longer.
can never
be done in
controlled
conditions
.
222
The
generation
Con time is
relatively
Matings longer.
can never The
be done in number of
controlled offspring is
conditions relatively
. smaller.
223
The Collection of
generation pertinent
Con time is information
is more
relatively
tedious.
Matings longer.
can never The
be done in number of
controlled offspring is
conditions relatively
. smaller.
224
Using Pedigrees
A pedigree is a pictorial representation

of how a trait is transmitted among the
members of a family.
225
Using Pedigrees
Identification of the mode of

inheritance of an unknown
genetic trait.

226
Using Pedigrees

genetic trait.
Determination of the
genotype of an individual
with respect to a trait.

227
Using Pedigrees

genetic trait.
Determination of the
genotype of an individual
with respect to a trait.
Determination of the risk of

recurrence of a genetic
of how a trait is transmitted among the condition in a family.
228
Challenges of Pedigree Analysis
A major challenge in
pedigree analysis is
being able to collect
substantial and
accurate information
regarding the history
of a family with
regard to a genetic
condition.
229
Pedigree Analysis in Genetic Counseling
Genetic
Counseling
230
Performed in accredited
health institutions
Genetic
Counseling
231
Advice is also given to

families at risk of having
health institutions
a genetic condition
Genetic
Counseli
ng
232

health institutions
a genetic condition
Genetic
Counseling
Advice is given to a
family with a genetic
condition
233

health institutions
a genetic condition
Genetic
Counseling
Advice is given to a Elaborates on the

family with a genetic genetic, psychological,
condition developmental aspects
234
Constructing Pedigrees
235
Use a “square”
for male
individuals,
while use a
“circle” for
female
individuals.
236
Use a
“diamond” for
individuals
whose specific
sex cannot be
identified.
237
Use a “shaded”
symbol if an
individual is
confirmed to
have the
genetic
condition.
238
Sometimes, a
“slash” is used
to specify
whether an
individual is
already
deceased.
239
Use an “arrow”
for the
proband: the
individual who
first sought
medical
attention.
240
Use a “half-
shaded” symbol
to denote that
an individual is a
carrier.
241
Use a
“horizontal
line” to connect
the members of
a couple.
242
Use a “double
horizontal line”
to connect the
members of a
couple who are
genetically
related.
243
Use a “common
branching
point” for the
members of
twins.
244
Connect them if
they are
monozygotic.
Do not connect
them if they are
dizygotic.
245
Use Roman
numerals to
represent the
order of
generations.
246
Use Arabic
digits to
number the
individuals from
left to right
every
generation.
247
Remember
In problems involving pedigree analysis,

it is rare that the specific trait or
characteristic is provided in the
problem. This will somehow defeat the
purpose of the analysis.
248
Remember
For example, we cannot specify that the
trait involved is albinism because you are
already familiar with its mode of
inheritance, which is autosomal recessive.
Also, the “half-shaded” symbol is not used
to denote the carrier status of an
individual. It is the purpose of the analysis
to determine whether an individual is a
carrier or not.
249
Autosomal Traits
Autosomal traits have their genes located on autosomes, which are the 44
chromosomes (22 pairs) common for both males and females. 250
Autosomal Dominant Inheritance
1. Relatively easier to identify because the affected

individuals manifest the corresponding trait. 251
2. Affected individuals should have at least one affected

parent (e.g., II-4 from I-1; III-2 from II-2) 252
3. Autosomal dominant traits have the tendency to not

skip generations. 253
4. Genotypes can be assigned to all of the individuals

with respect to the identified inheritance pattern. 254
4. Genotypes can be assigned to all of the individuals

with respect to the identified inheritance pattern. 255
Achondroplasia, an autosomal dominant condition, is characterized by

impaired conversion of cartilage into bones during development. 256
Autosomal Recessive Inheritance
1 2 1. Analysis is
relatively
more
challenging
because
II individuals
may have the
1 2 3 4 5
allele but do
not express
them (i.e.,
carriers).
III
1 2 3 4 257
1 2 2. Affected
individuals
may have
both
II
unaffected
parents
1 2 3 4 5 (e.g., both
parents of
III-3 are
III unaffected).
1 2 3 4 258
1 2
3. Autosomal
recessive
traits have
II the
1 2 3 4 5 tendency to
skip
generations.
III
1 2 3 4 259
Aa Aa 4. Genotypes
can be
assigned to
all of the
individuals
II
with respect
Aa aa Aa Aa Aa to the
identified
inheritance
pattern.
III
Aa Aa aa A__ 260
Cystic fibrosis is an
autosomal recessive
condition that is
characterized by the buildup
of mucus in respiratory and
digestive organs, which
results in various other
complications.
261
Sickle cell anemia is a

recessive mutation of the
hemoglobin gene. Gas
transport is impaired, and
the sickle-shaped red blood
cells may become stuck in
small blood vessels.
262
How does consanguineous
mating become disadvantageous
to the members of the couple
involved?
263
Remember
When analyzing pedigrees, and you are

asked to provide the genotypes of the
individuals, there may be cases when
you can leave the second allele blank.
264
Remember
For example, an individual has a

dominant phenotype, A__. However,
due to insufficient information, one
cannot determine whether the second
allele is dominant or recessive. Thus,
you may leave it as it is.
265
What are the limitations of
performing pedigree analyses?
266
Let’s Practice!
A trait that runs in the family

given below was analyzed by a
genetic counselor. She was able
to illustrate its transmission
through the pedigree given.
What is the mode of
inheritance of this trait? Justify
your answer. (Take note that
the carriers, if there are any,
are not marked with dots) 267
Let’s Practice!
A trait that runs in the family given

below was analyzed by a genetic
counselor. She was able to illustrate its
transmission through the pedigree given
below. What is the mode of inheritance
of this trait? Justify your answer. (Take
note that the carriers, if there are any,
are not marked with dots)
The trait in the given pedigree follows an autosomal

recessive mode of inheritance because two unaffected
parents had an affected child. 268
Try It!
Jane and Robert married, and they had

three children. If a genetic disorder,
which neither of them possesses,
appeared in their third child, what is the
mode of inheritance of the condition?
269
Let’s Practice!
The following pedigree

shows the inheritance of an
autosomal dominant trait in
a family. Given this mode of
inheritance, what are the
genotypes of all the
individuals in the pedigree?
(Take note that the carriers,
if there are any, are not
marked with dots.) 270
Let’s Practice!
Aa aa Aa aa
aa Aa aa Aa Aa aa
aa Aa aa 271
Let’s Practice!
Aa aa Aa aa
aa Aa aa Aa Aa aa
aa Aa aa 272
Try It!
Analyze the following pedigree below.

Determine the mode of inheritance of
the trait that runs in the given family.
273
Try It!

274
Try It!

275
Let’s Practice!
Agnes and Jerwin married. Their first child is a girl named Dorothy. She
has two brothers named Mark and Raymond, respectively. Mark and
Raymond have a genetic condition that causes them to have dark
urine, which neither of their parents has. Later on, Dorothy married
Michael, who is unaffected, and they had three children. The first two
children, a boy, and a girl, respectively, are normal. However, their
third child, who is a boy, has the genetic condition that Mark and
Raymond have. Furthermore, Raymond married Melissa, who is
unaffected. They have three children, the first two being boys, and the
third one is a girl, all of whom are affected. Construct a pedigree for
this family and determine the mode of inheritance of the genetic
condition.
276
Let’s Practice!
The mode of inheritance must be autosomal recessive.

277
Try It!
Jane married Paul, who has a certain genetic

condition that runs in his family. They had three
children. Their first child, a boy named Marco, does
not have the condition. However, their second and
third children, Rica and Angela, both have the
condition. Later on, Angela married Dexter. They
have five children, the first child being a girl named
Roxi. The rest are boys, the last two being affected
by the condition. Construct a pedigree of their
family and analyze the mode of inheritance of the
trait.
278
Let’s Sum It Up!
● The analysis of the inheritance of traits in humans is

a far more complicated task compared with that of
peas and fruit flies.
● The challenge of analyzing human inheritance lies in

their longer generation time, the limited sample
size for analysis, and the impossibility of
performing matings in controlled environments.
279
Let’s Sum It Up!
● Pedigree analysis was devised to observe and

analyze how a trait runs in families. It uses a
pedigree, a pictorial representation of the
transmission of a characteristic in at least two
generations of families.
● Pedigrees in basic research and genetic counseling

use a set of standard symbols and notations.
280
Let’s Sum It Up!
● Pedigrees are used to determine the mode of

inheritance of a trait.
○ Individuals with an autosomal dominant trait
usually have at least one affected parent.
○ Individuals with an autosomal recessive trait
usually have no affected parents. Although, still,
there are cases when one parent is also affected
by the recessive condition.
281
Let’s Sum It Up!
● Different genetic conditions in humans are

autosomal. Achondroplasia is inherited as a
dominant trait, while phenylketonuria, cystic
fibrosis, and sickle cell disease are inherited as
recessive traits.
282
Let’s Sum It Up!
The uses and applications of pedigree analysis in studying human

inheritance
283
Challenge Yourself
Determine the mode of inheritance

of the trait that runs in the given
pedigree below. Justify your answer.
284
Photo Credits
● Slide 2: Zebrafish (26436913602) by Oregon State University is licensed under CC BY-SA 2.0 via
Wikimedia Commons.
● Slide 2: Drosophila melanogaster - Fruit fly by michael is licensed under CC BY 2.0 via Wikimedia
Commons.
● Slides 7 to 11: Peas in pods - Studio by Bill Ebbesen is licensed under CC BY-SA 3.0 via
Wikimedia Commons.
● Slides 22 to 26: Eye Care Consultation by National Eye Institute is licensed under CC BY 2.0 via
Flickr.
● Slide 48: Peter Dinklage (9350750232), cropped, by Gage Skidmore from Peoria, AZ, United
States of America is licensed under CC BY-SA 2.0 via Wikimedia Commons.
285
Bibliography
2003.
286
Use of Testcross
CASE 1 CASE 2

A_ × aa A_ × aa
F1
287
Use of Testcross
CASE 1 CASE 2

A_ × aa A_ × aa
F1 All with round seeds Some with round seeds,

some with wrinkled seeds
288
Use of Testcross
CASE 1 CASE 2

A_ × aa A_ × aa

The recessive trait did not

appear in F1. The first parent
must be homozygous.
289
Use of Testcross
CASE 1 CASE 2

A_ × aa A_ × aa

The recessive trait did not The recessive trait appeared

appear in F1. The first parent in F1. The first parent must be
must be homozygous. heterozygous.
290
Use of Testcross
CASE 1 CASE 2

AA × aa Aa × aa
F1 All with round seeds (Aa) Some with round seeds (Aa),
some with wrinkled seeds (aa)
The recessive trait did not The recessive trait appeared

appear in F1. The first parent in F1. The first parent must be
must be homozygous. heterozygous.
291
Is the cross between a tall pea
and a dwarf pea an example of a
testcross? Why?
292
Problem Solving Techniques
Punnett Square
APPLICATIO
NS
OF
INHERITAN
CE
LAWS
Forked-Line Probability
Method Methods
293
Punnett Square
The Punnett square

is a simple method
where the alleles of
parents are
combined to
determine the
possible outcomes
of fertilization.
294
Sample Punnett Square
1. Write the given. Determine the result of the

testcross of a pea that is
2. Determine the alleles. heterozygous for both seed
shape and seed color.
4. Draw the square.
6. Combine alleles.


AaBb × aabb
4. Draw the square.
6. Combine alleles.


AaBb × aabb
A - round B-
yellow
4. Draw the square.
a - wrinkled b-
5. Distribute alleles. green
6. Combine alleles.


AaBb × aabb
2. Determine the alleles. heterozygous for both seed A A a
shape and seed color. B b b
3. Identify the alleles. a a
A - round B-
B b
yellow
4. Draw the square.
a - wrinkled b-
6. Combine alleles.


AaBb × aabb
A - round B-
B b
yellow
4. Draw the square.
a - wrinkled b-
6. Combine alleles.


AaBb × aabb
A - round B-
B b
yellow
4. Draw the square.
a - wrinkled b-
5. Distribute alleles. green A A a a
B b B b
6. Combine alleles.
a
7. Determine phenotypes. b


AaBb × aabb
A - round B-
B b
yellow
4. Draw the square.
a - wrinkled b-
B b B b
6. Combine alleles. AaBb Aabb aaBb aabb
a
7. Determine phenotypes. b


AaBb × aabb
A - round B-
B b
yellow
4. Draw the square.
a - wrinkled b-
B b B b
6. Combine alleles. AaBb Aabb aaBb aabb
a
b round, round, wrinkled, wrinkled,
7. Determine phenotypes. yellow green yellow green

1. Write the given. A - round B-

AaBb × aabb
yellow
2. Determine the alleles. a - wrinkled b-
A A greena a
3. Identify the alleles. B b B b
4. Draw the square. AaBb Aabb aaBb aabb

a
b round, round, wrinkled, wrinkled,
5. Distribute alleles. yellow green yellow green
6. Combine alleles.
GR: 1/4 AaBb: 1/4 Aabb: 1/4 aaBb: 1/4 aabb
PR: 1/4 round, yellow: 1/4 round, green: 1/4
wrinkled, yellow: 1/4 wrinkled, green
Six Possible Monohybrid Crosses
CASE 1 AA × AA
A A
A cross
between A AA AA
two
homozygou A AA AA
s dominant
parents. GR: 100% or all AA
PR: 100% or all dominant
304
CASE 2 AA × Aa
A A
A cross
between
A AA AA
homozygous
dominant and a Aa Aa
heterozygous
parents. GR: 1/2 AA: 1/2 Aa
305
CASE 3 Aa × Aa
A a
A cross
between
A AA Aa
heterozygous
individuals or a Aa aa
hybrids.
GR: 1/4 AA: 2/4 Aa: 1/4 aa
PR: 3/4 dominant : 1/4 recessive
306
CASE 4 AA × aa
A A
A cross
between two
a Aa Aa
true-breeding
individuals a Aa Aa
with different
traits GR: 100% or all Aa
307
CASE 5 Aa × aa
A a
A cross
between a a Aa aa
hybrid and a
recessive
a Aa aa
individual.
GR: 1/2 Aa: 1/2 aa
PR: 1/2 dominant : 1/2 recessive
308
CASE 6 aa × aa
a a
A cross
between a aa aa
two
recessive
a aa aa
individuals.
GR: 100% or all aa
PR: 100% or all recessive
309
Forked-Line Method
Requires analysis of
each monohybrid cross
FORKED-
LINE
METHOD
Can determine
No need to
offspring ratios
identify the alleles directly
310
Forked-Line Method
1. Write the given. Determine the genotypic

ratio of the provided cross.
2. Analyze each cross.
3. Create first column.
4. Create second column.
5. Make branches.
6. Combine genotypes.
7. Multiply probabilities.

Forked-Line Method

ratio of the provided cross. MmNn ×
MmNn
5. Make branches.

Forked-Line Method

MmNn
Mm × Mm 1/4 MM: 2/4 Mm: 1/4 mm
Nn × Nn 1/4 NN: 2/4 Nn: 1/4 nn
5. Make branches.

Forked-Line Method

MmNn
Mm × Mm 1/4 MM: 2/4 Mm: 1/4 mm
Nn × Nn 1/4 NN: 2/4 Nn: 1/4 nn
5. Make branches.

Forked-Line Method

MmNn
5. Make branches.
7.
8. 315
Forked-Line Method

ratio of the provided cross. MmNn × MmNn
5. Make branches.
7.
8. 316
Forked-Line Method

5. Make branches.
7.
8. 317
Forked-Line Method

5. Make branches.
7.
8. 318
Forked-Line Method

5. Make branches.
7.
8. 319
Forked-Line Method

5. Make branches.
7.
8. 320
Forked-Line Method

5. Make branches.
7.
8. 321
Forked-Line Method
1. Write the given. Determine the phenotypic

ratio of the provided cross.
2. Assign
Analyzethe
each
alleles.
cross.
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 322
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 323
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
M - Tall N - Violet MmNn
3. Analyze
Create first
each column.
cross. m - Dwarf n - White
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 324
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
3. Analyze
Create first
each column.
Createsecond
column.
5. Create
Make branches.
second
Mm × Mm
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
Nn × Nn
8. 325
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
3. Analyze
Create first
each column.
Createsecond
column.
Mm × Mm 3/4 Tall (M_):
5. Create
Make branches.
second 1/4 Dwarf (mm)
column.
6. Make
Combine
branches.
genotypes.
Nn × Nn 3/4 Violet (N_):
6. Combine
phenotypes.
1/4 White (nn)
8. 326
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 327
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 328
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 329
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 330
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 331
Forked-Line Method

2. Assign
Analyzethe
each
alleles.
cross.
MmNn
3. Analyze
Create first
each column.
cross.
Createsecond
column.
5. Create
Make branches.
second
column.
6. Make
Combine
branches.
genotypes.
6. Combine
phenotypes.
8. 332
Probability Methods
What if you are simply asked to determine the

chance of getting AabbccDdEe genotype from
the cross AaBbCcDdEe × AaBbCcDdEe, would
you still use either the Punnett square or forked-
line method?
333
Probability Methods
No need to
Probability as the
determine the
mathematical
complete offspring
measure of chance
ratios
PROBABI
LITY
METHOD
S
Can directly determine Uses either or both

the probability of an the sum and product
genotype or phenotype rules of probability
334
How do the sum and product
rules of probability apply to the
laws of inheritance?
335
Probability Methods
Probability of obtaining either

dominant or recessive alleles by the gametes.
Probability of Probability of
Genotype
obtaining A obtaining a
AA 1 or 100% 0
Aa 1/2 or 50% 1/2 or 50%
aa 0 1 or 100%
336
Probability Methods
Product
Rule
337
Probability Methods
Product
Rule
The chance of
two or more
independent
events to occur
together is
equal to the
product of their
individual
probabilities.
338
Probability Methods
Example 1: Obtaining genotype probabilities by

Product multiplying individual gamete probabilities.
Rule
The chance of
two or more
independent
events to occur
together is
equal to the
product of their
individual
probabilities.
339
Probability Methods
Example 1: Obtaining genotype probabilities by

Product multiplying individual gamete probabilities.
Rule
♂
A a
The chance of (1/2 chance of getting (1/2 chance of getting
two or more from the father) from the father)
independent A
events to occur (1/2 chance of AA Aa
together is getting (1/2) × (1/2) = 1/4 (1/2) × (1/2) = 1/4
from the mother)
equal to the ♀
product of their a
(1/2 chance of Aa aa
individual
probabilities.
getting (1/2) × (1/2) = 1/4 (1/2) × (1/2) = 1/4
from the mother)
340
Probability Methods
Inheritance of the alleles from each parent are

Product independent events, thus multiply their probabilities.
Rule
♂
A a
independent A
from the mother)
equal to the ♀
product of their a
individual
probabilities.
getting (1/2) × (1/2) = 1/4 (1/2) × (1/2) = 1/4
from the mother)
341
Probability Methods
Inheritance of the alleles from each parent are

Product independent events, thus multiply their probabilities.
Rule
♂
A a
independent A
from the mother)
equal to the ♀
product of their a
individual
probabilities.
getting (1/2) × (1/2) = 1/4 (1/2) × (1/2) = 1/4
from the mother)
342
Probability Methods
Example 2: Solving for offspring probabilities in

Product crosses involving independently assorting genes.
Rule
The chance of
two or more
independent
events to occur
together is
equal to the
product of their
individual
probabilities.
343
Probability Methods

Rule
Solve for the probabilities of obtaining the following offspring
from the cross AaBbCc × aaBBCc, where genes A, B, and C are
The chance of independently assorting.
two or more
independent
events to occur
together is
equal to the
product of their
individual
probabilities.
344
Probability Methods

Rule
Solve for the probabilities of obtaining the following offspring
from the cross AaBbCc × aaBBCc, where genes A, B, and C are
The chance of independently assorting.
two or more
independent 1. AaBbCc
events to occur
together is
equal to the 1. aaBbcc
product of their
individual
probabilities. 1. aaBBCC
345
Probability Methods

Rule
The three genes are independently assorting,
The chance of thus multiply individual probabilities.
two or more
independent 1. AaBbCc
events to occur
together is
equal to the 1. aaBbcc
product of their
individual
probabilities. 1. aaBBCC
346
Probability Methods

Rule
two or more
independent 1. AaBbCc = (chance of Aa) × (chance of Bb) × (chance of Cc)
events to occur = (1/2) × (1/2) × (1/2) = 1/8
together is
equal to the 1. aaBbcc = (chance of aa) × (chance of bb) × (chance of cc)
product of their = (1/2) × (1/2) × (1/4) = 1/16
individual
probabilities. 1. aaBBCC = (chance of aa) × (chance of BB) × (chance of CC)
= (1/2) × (1/2) × (1/4) = 1/16 347
Probability Methods

Rule
two or more
independent 1. AaBbCc = (chance of Aa) × (chance of Bb) × (chance of Cc)
events to occur = (1/2) × (1/2) × (1/2) = 1/8
together is
equal to the 1. aaBbcc = (chance of aa) × (chance of bb) × (chance of cc)
product of their = (1/2) × (1/2) × (1/4) = 1/16
individual
probabilities. 1. aaBBCC = (chance of aa) × (chance of BB) × (chance of CC)
= (1/2) × (1/2) × (1/4) = 1/16 348
Probability Methods
Sum
Rule
349
Probability Methods
Sum
Rule
The probability
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 350
Probability Methods
Example 1: You are given one turn or attempt to roll a
Sum die, and you want to determine the chance of landing
Rule with two or four.
The probability
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 351
Probability Methods
Given: One attempt to roll a die.
The probability
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 352
Probability Methods
The probability
Asked: Chance of either 2 or 4.
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 353
Probability Methods
The probability
of either of two
mutually Theory: With only an attempt, one
exclusive cannot get both; we can only land a
events 2 or a 4.
occurring is
equal to the sum
of their
individual
probabilities. 354
Probability Methods
The probability
of either of two
mutually Theory: With only an attempt, one
exclusive cannot get both; we can only land a
events 2 or a 4.
occurring is
equal to the sum Conclusion: These events are
of their mutually exclusive.
individual
probabilities. 355
Probability Methods
The probability Thus, add their individual chances.

of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 356
Probability Methods
The probability Thus, add their individual chances.

of either of two
mutually Chance of either a two or a four
exclusive = (chance of a 2) + (chance of a 4)
events = (1/6) + (1/6)
occurring is = 2/6
equal to the sum = 1/3 or 33.33%
of their
individual
probabilities. 357
Probability Methods
Example 2: What is the chance of getting an offspring

Sum with the dominant phenotype given the cross Rr × Rr?
Rule
The probability
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 358
Probability Methods

Rule
The probability
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 359
Probability Methods

Rule
Event 1: Dominant R
The probability from both parents
of either of two
mutually
exclusive
events
occurring is
equal to the sum
of their
individual
probabilities. 360
Probability Methods

Rule
Event 1: Dominant R
of either of two
mutually Event 2: Dominant R
exclusive from mother and
events recessive r from father
occurring is
equal to the sum
of their
individual
probabilities. 361
Probability Methods

Rule
Event 1: Dominant R
of either of two
occurring is
Event 3: Recessive r
equal to the sum from mother and
of their dominant R from father
individual
probabilities. 362
Probability Methods
Only these events can give rise to a dominant phenotype, thus

Sum we should add their individual probabilities.
Rule
Event 1: Dominant R
of either of two
occurring is
individual
probabilities. 363
Probability Methods
Probability of dominant phenotype = (event 1) + (event 2) + (event 3)
Sum = (1/4) + (1/4) + (1/4)
= 3/4 or 75%
Rule
Event 1: Dominant R
of either of two
occurring is
individual
probabilities. 364
If you want to determine the
probability of getting a girl and
a boy in consecutive
pregnancies, which rule of
probability is more applicable,
the sum rule or the product
rule? Why?
365
Let’s Practice!
In humans, the deposition of melanin in the skin, eyes, and hair is
under the control of a gene that is inherited through complete
dominance. The recessive mutant allele is characterized by the
impaired pigmentation, which results in the condition called
albinism. If a normally pigmented couple, each of whom has an
albino parent, had children, what is the expected genotypic and
phenotypic ratios of their children with respect to the trait? Use a
Punnett square to justify your answer.
366
Let’s Practice!
In humans, the deposition of melanin in the skin, eyes, and hair is
under the control of a gene that is inherited through complete
dominance. The recessive mutant allele is characterized by the
impaired pigmentation, which results in the condition called
albinism. If a normally pigmented couple, each of whom has an
albino parent, had children, what is the expected genotypic and
phenotypic ratios of their children with respect to the trait? Use a
Punnett square to justify your answer.
The genotypic ratio of the cross is 1/4 AA: 2/4 Aa: 1/4 aa.
The phenotypic ratio is 3/4 pigmented and 1/4 albino.
367
Try It!
Given the cross AaBb × aaBb, where A–

round seed, a–wrinkled seed, B–yellow
seeds, and b–green seeds, what are the
genotypic and phenotypic ratios of the
offspring? Use Punnett square to solve
for the answers.
368
AaBb x aaBb
AB Ab aB ab x aB ab
AB Ab aB ab
aB AaBB AaBb aaBB aaBb
(Round, (Round, (Wrinkled, (Wrinkled
yellow) yellow) yellow) , yellow)
ab AaBb Aabb aaBb aabb

GR=1:2:1:2:1:1
(Round, (Wrinkled, (Wrinkled, (Wrinkled
yellow) yellow) yellow) , green)
PR= 3:4:1
369
Let’s Practice!
In humans, the presence of dimples are controlled by dominant
alleles while the presence of a hitchhiker’s thumb is recessive. The
absence of dimples and the presence of a hitchhiker’s thumb in an
individual requires two copies of the recessive alleles. By using the
forked-line method, determine the genotypic and phenotypic ratios
of the children of a couple, wherein the male is heterozygous for
both traits, while the female is heterozygous for hitchhiker’s
thumb, but has no dimples.
370
371
372
Let’s Practice!
Two separate crosses were performed in peas. The first cross
involved seed shape and seed color. The second cross involves
height, inflorescence, and flower colors. The phenotypes of the
parents and offspring are given below. . Use A for seed shape, B for
seed color, C for height, D for inflorescence, and E for flower color.
Cross 1 Cross 2
round, yellow × wrinkled, green tall, terminal, white × dwarf, axial, violet
1/4 round, yellow 1/4 tall, axial, violet

1/4 round, green 1/4 dwarf, axial, violet
1/4 wrinkled, yellow 1/4 tall, terminal, violet
1/4 wrinkled, green 1/4 dwarf, terminal, violet 373
Aa Bb x aabb
AB Ab aB ab x ab
FOIL Method
AB Ab aB ab
ab AaBb Aabb aaBb aabb
374
Ccddee x ccDdEE
Cde cde x cDE cdE
Cde cde
cDE CcDdEe ccDdEe
cdE CcddEe ccddEe
375
Try It!
A cross between two peas was made. The
first parent has smooth pods, white
flowers, and yellow seeds. The second
parent has smooth pods, violet flowers, and
yellow seeds. Four offspring appeared in
the offspring as follows: (1) smooth, violet,
yellow; (2) wrinkled, violet, green; (3)
smooth, violet, green; and (4) wrinkled,
violet, yellow. Provide the genotypes of
both parents and all of their offspring.
376
377
Try It!
By using the fork-line method,

determine the genotypic ratio of the
offspring of the testcross of MmNnOo.
378
Let’s Sum It Up!
● Given the probability that an individual with the

dominant phenotype may be homozygous or
heterozygous, a testcross is used. When
performing a testcross, the individual with the
dominant trait is crossed to an individual with
the recessive trait.
379
Let’s Sum It Up!
● Punnett square is the most basic technique in

combining the gametes of parents to determine
the possible genotypes and phenotypes of the
offspring.
380
Let’s Sum It Up!
● The forked-line method is a more

straightforward technique that also allows the
determination of the genotypes and phenotypes
of the progeny, as well as their corresponding
ratios.
381
Let’s Sum It Up!
● The probability method is useful when

enumerating all genotypes and phenotypes of the
offspring is not needed. It is more applicable
when directly solving for the probabilities of
particular genotypes and phenotypes in the
progeny.
382
Let’s Sum It Up!
● The product rule of probability should be used

when solving the likelihood of two independent
events occurring simultaneously. It is applicable
to problems involving independently assorting
genes.
● The sum rule of probability should be used

when solving for the probability of either of two
or more events occurring. 383
Let’s Sum It Up!
384
Challenge Yourself
Two highly inbred strains of

laboratory mice were crossed. One
parent has black fur, and the other
parent has gray fur. All of their
offspring possess black fur. What is
the expected genotypic and
phenotypic ratio if all of their
offspring intercrossed?
385
Photo Credits
● Slide 2: Snake and Ladders by Gaurav Dhwaj Khadka is licensed under CC BY-SA 4.0 via Wikimedia
Commons.
386
Bibliography
2003.
387
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Lesson 1.3 Pedigree Analysis
BS IN Secondary Education (Arriesgado College Foundation Inc)
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Unit 1: Laws of Inheritance
Lesson 1.3
Pedigree Analysis
Contents
Introduction 1
Learning Objectives 2
Warm Up 2
Learn about It! 4

Analyzing Inheritance: Peas vs. Humans 4
Using Pedigrees 6
Why Do We Perform Pedigree Analysis? 6
Pedigree Analysis in Genetic Counseling 7
Constructing Pedigrees 7
Analyzing Pedigrees 9
Autosomal Dominant Traits 10
Autosomal Recessive Traits 12
Key Points 22
Check Your Understanding 23
Challenge Yourself 24
Photo Credits 26
Bibliography 26
Key to Try It! 27
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Lesson 1.3
Pedigree Analysis
Introduction
Similar to most of our traits that may or may not compromise our daily survival, such as
having dimples or a hitchhiker’s thumb, many disorders are also genetic in nature. One
example is neurofibromatosis, which is a heritable disorder in humans that affects the skin
and nervous tissues. It occurs in 1 out of 4 000 births. One of its most common symptoms
is the appearance of pea-sized bumps along nerves or under the skin. More severe cases
involve brain and spinal tumors, which result in problems in balance. Since it is a genetic
disorder, neurofibromatosis has no complete cure. However, surgery can be performed to
remove the tumors. Many other genetic disorders occur in the human population. Unlike
the characters of peas that you studied in the previous chapters, human genetic disorders
are not easy to study and understand because of the nature of our reproduction. In this
chapter, you will learn how we can gain an understanding of the inheritance of various
traits that run in human families.
1.3. Pedigree Analysis 1
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Learning Objectives DepEd Competency
In this lesson, you should be able to do the This lesson serves as an enrichment for
the following DepEd competency:
following:
● Predict genotypes and
● Understand the importance of phenotypes of parents and
pedigrees in studying inheritance in offspring using the laws of

inheritance
humans.
● Construct and analyze pedigrees
involving different genetic conditions
in humans.
Warm Up
What’s Up, Doc? 25 minutes
There are cases when a newly born child does not manifest a genetic disorder. Therefore,
many techniques have already been made to determine whether a child or an embryo
during the gestation period possesses a genetic disorder. In this activity, you will look at
some genetic disorders through a simulation of genetic counseling.
Materials
● internet-connected device
● any available relevant props
Procedure
1. Divide the class into four groups.
2. You will be assigned to one of the four genetic disorders listed below. Each disorder
has a designated video that you need to watch.
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a. Cystic fibrosis
What is Cystic Fibrosis?

Demystifying Medicine, “What is Cystic Fibrosis?,” YouTube,
November 24, 2016, shorturl.at/coBC3, last accessed on May
19, 2020.
b. Achondroplasia
Achondroplasia (as seen in "Game of Thrones") - causes,

symptoms, & pathology
Osmosis, “Achondroplasia (as seen in "Game of Thrones") -
causes, symptoms, & pathology,” YouTube, September 26,
2016, shorturl.at/isyS0, last accessed on May 19, 2020.
c. Phenylketonuria
Phenylketonuria - causes, symptoms, diagnosis, treatment,

pathology
Osmosis, “Phenylketonuria - causes, symptoms, diagnosis,
treatment, pathology,” YouTube, October 30, 2019,
shorturl.at/jwO45, last accessed on May 19, 2020.
d. Sickle-cell disease
How this disease changes the shape of your cells - Amber M.

Yates
TED-Ed, “How this disease changes the shape of your cells -
Amber M. Yates,” YouTube, May 19, 2020, shorturl.at/bouVX,
last accessed on May 19, 2020.
Note: Your teacher may provide more genetic disorders depending on the actual
class size. Also, you may be instructed to watch your assigned videos before the
actual meeting.
3. As you watch the video, take note of the important aspects of the disorder, such as
symptoms, patterns of inheritance, and management. Particularly, you must answer
the following questions.
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a. What is its cause? What is its mode of inheritance?

b. What symptoms should be expected?
c. Is there an available treatment? What can be best done?
4. After watching the video, prepare for a three-minute skit.
a. Your presentation should involve a simulation, wherein some members of
your group will act as a group of doctors or genetic counselors.
b. These doctors shall give advice to a couple with an affected child.
c. The storyboard of your skit must contain details about the disorder, possible
coping mechanisms, treatment options, and other information that you deem
necessary.
d. You will be presenting disorders that affect real people. As such, be sensitive
to how your audience will react. Make sure that your skit does not make fun
of anyone afflicted with the conditions.
5. After the presentations, answer the guide questions below.
Guide Questions
1. What are the modes of inheritance of the genetic disorders in the activity?
2. How does it help if a couple determines that an asymptomatic child has a genetic
disorder?
3. What do you think are the challenges in studying the inheritance of genetic disorders
in humans?
Learn about It!
How can you compare the study of inheritance in

peas with that in humans?
Analyzing Inheritance: Peas vs. Humans

Gregor Mendel performed a breakthrough plant breeding experiment that provided us with
a greater understanding of how biological traits are inherited. In his study involving Pisum
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sativum or garden peas, he was able to come up with the laws of inheritance and the
principle of dominance. Relatively, it is easier to study the patterns of inheritance of pea
traits because mating can be controlled. This means assigning the desired characteristics
of the parents in a cross is possible. In addition, the generation time is also relatively
shorter. They can be grown easily and can produce many offspring. A large number of
offspring (i.e., many seeds can be generated in a cross, as in Fig. 1.3.1) that can be obtained
is helpful in performing statistical analysis of inheritance.
Fig. 1.3.1. Studying biological inheritance in peas is relatively easier because of their shorter
generation time and a large number of offspring that can be obtained.
By contrast, studying inheritance in humans (such as the pattern of transmission of albinism

in Fig. 1.3.2) is way more difficult and complicated. Controlled matings are not possible in
humans for obvious ethical reasons. We cannot simply allow two individuals to produce
offspring by virtue of their traits. In addition, the generation time is relatively longer in
humans, and only one or few offspring are produced during every pregnancy, which will
significantly limit the sample size for analysis. Also, current efforts to study inheritance in
humans highly rely on family records, which are oftentimes incomplete.
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Fig. 1.3.2. Human genetics is a relatively more complicated field than plant genetics.
Using Pedigrees
Why Do We Perform Pedigree Analysis?
A useful approach to study the inheritance of traits in humans is pedigree analysis. As
shown in Fig. 1.3.3, a pedigree is a graphical representation of how a trait is inherited
among the members of a family. This is the first effective method introduced to determine
the mode of inheritance of a trait. Given the periodic occurrence of a genetic
characteristic in a family, we can also assess the risk of recurrence, especially if it is a
genetic disorder.
Fig. 1.3.3. Pedigrees are used to determine the chances of a trait recurring in a family.
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However, as mentioned earlier, challenges in studying the inheritance of traits in humans

involve problems in the collection of information. Usually, one can construct an accurate
pedigree of a family from a survey or interview if the interviewee is knowledgeable about
the number of children, sex, and the occurrence of the trait among his or her relatives.
Otherwise, false data can lead to wrong interpretation of a pedigree.

Genetic counseling is a procedure performed in health institutions (as shown in Fig. 1.3.4),
wherein advice is given to a family afflicted with or at risk of getting a genetic condition. A
genetic counselor usually elaborates on the genetic, psychological, and other implications
of the condition so that the family may adapt as needed. The process of genetic counseling
entails the analysis of pedigrees constructed from a series of questions answered by the
family to generate any pertinent information. However, it will always be critical to accurate
genetic counseling that the family being interviewed has a correct recollection of the
inheritance of traits among their relatives.
Fig. 1.3.4. Genetic health practitioners make a careful analysis of all obtained information to
assess the risk of recurrence of a genetic condition in a family.
Symbols and notations are used to construct a pedigree, as shown in Fig. 1.3.5. These
symbols set the standard in all genetic tests or analyses, and they are as follows.
1. Sex. Use squares for male individuals and circles for females.
2. Traits. A shaded square or circle denotes that an individual is affected by the
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condition. Otherwise, the individual does not possess the condition and is
represented by an unshaded shape.
3. Status. A slash is used to denote that an individual is deceased. Not all pedigrees
specify this status of the individuals, however.
4. Proband. Sometimes, pedigrees specify the individual being studied or observed.
Usually, a proband is a member of the family who first sought the attention of a
genetic counselor. A proband is represented by an arrow.
5. Carrier. A half-shade is used to represent that an individual is a carrier for a genetic
condition. Specifically, the carrier individual is said to be heterozygous for the
condition. Take note that the status of being a carrier is not always shown in a
pedigree.
6. Unknown Sex. Sometimes, the family being interviewed prior to genetic counseling
may be certain about the number of children of a relative, but not sure about their
sexes. In such cases, a diamond symbol is used.
Fig. 1.3.5. Symbols and notations used in constructing human pedigrees
7. Mating. Mating between a couple is denoted by a horizontal line connecting them.

8. Offspring. The children of matings are represented by a vertical line that connects
to the parents.
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9. Consanguinity. Mating between genetically related individuals, or a

consanguineous mating, is represented by a double horizontal line.
○ An example of this is when cousins marry each other and have children.
10. Twinning. Twins can be denoted by branching from a common point.
○ Connecting the members of a twin represents a monozygotic or identical
condition. Otherwise, they are considered dizygotic or fraternal.
11. Labels. Roman numerals are used to denote generations. In each generation,
individuals are numbered consecutively from left to right.
○ For example, individual II-2 is an affected son of individuals I-1 and II-2, both
of whom are unaffected.
Analyzing Pedigrees
Identifying whether a trait that runs in the family is dominant or recessive is crucial to the
determination of the chances of recurrence of that trait in the family. This can also
contribute to continuously becoming a more extensive understanding of how human traits
are inherited. It may not be as convenient as generating hundreds of seeds in plant
hybridization. However, it can at least narrow down options regarding the possible mode of
inheritance of a trait in humans.
Remember
In problems involving pedigree analysis, it is rare that the specific
trait or characteristic is provided in the problem. Also, whether an
individual is a carrier or not is not specified. These will somehow
defeat the purpose of the analysis.
For example, we cannot specify that the trait involved is albinism

because you are already familiar with its mode of inheritance, which
is autosomal recessive. Also, the “half-shaded” symbol is not used to
denote the carrier status of an individual. It is the purpose of the
analysis to determine whether an individual is a carrier or not.
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The traits that will be analyzed in this lesson, similar to the characteristics observed by
Mendel in garden peas, are autosomal. The genes for these traits are found in the
autosomes, the set of chromosomes that do not differ between males and females. Other
traits are said to be sex-linked because the genes that code them are found on the sex
chromosomes. These traits will be discussed further in the next chapter of this unit.
The autosomes and sex chromosomes in humans. Recall that human autosomes are the
pairs of chromosomes 1 to 22, and the sex chromosomes represent the 23rd pair. The sex
chromosomes are XX for females and XY for males.
Autosomal Dominant Traits

Compared with recessive traits, dominant traits are relatively easier to identify because
individuals who possess the dominant allele express or manifest the corresponding
phenotype. The pedigree that is given in Fig. 1.3.6 represents the inheritance of a trait that
follows the autosomal dominant mode of inheritance.
1. Note that in this mode of inheritance, an affected individual shall have at least
one affected parent.
a. In the given pedigree, both II-2 and II-4 inherit their dominant alleles from
their father, I-1.
b. The same is true for individual III-2, who inherited a dominant allele from his
mother, II-2.
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2. Given the previous case, autosomal dominant traits have the tendency to not skip
generations. This means that the trait may most likely be present in every
generation.
3. We can also determine the genotypes of the individuals in the given pedigree.
a. Suppose that I-1 is heterozygous Aa, and I-2 is aa. As a result, aa individuals
are present in the offspring (i.e., II-3, II-6, and II-7).
b. Thus, II-2 and II-4 must be heterozygous, Aa.
Fig. 1.3.6. A sample pedigree for the inheritance of an autosomal dominant trait that runs in
the family shows that an affected offspring should have at least one affected parent.
Examples of autosomal dominant traits

include achondroplasia, a form of
dwarfism. Due to a dominant mutation
in a gene that codes for the normal
development of bones, an affected
individual ends up having short
stature. Particularly, these individuals
suffer from the impairment of the
conversion of cartilage into bones
during development. As shown in Fig.
1.3.7, one notable individual with
achondroplasia is Peter Dinklage.
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Autosomal Recessive Traits

In an actual analysis of pedigrees during genetic health consultations, identifying autosomal
recessive traits are relatively more challenging. The difficulty in detecting them lies on the
premise that an affected child usually has two unaffected parents. In such cases, both
parents must be carriers of the recessive allele. Furthermore, recessive traits that are
rare in populations usually appear when members of a couple are genetically related to
each other; hence, a consanguineous mating.
Fig. 1.3.8. A sample pedigree for the inheritance of an autosomal recessive trait that runs in
the family shows that an affected person may have two unaffected parents.
1. The given pedigree in Fig. 1.3.8 shows an autosomal recessive trait because
individual II-2, who is affected, has two unaffected parents, I-1 and I-2.
2. The same is true for individual III-3, who is also affected but has two unaffected
parents.
3. Given the pedigree, we can also conclude some genotypes.
a. Given that individual II-2 is affected (aa), both of the unaffected parents must
be heterozygous, Aa. In addition, individual II-4 can be concluded as
heterozygous given that she has an affected child. II-1 can either be
homozygous or heterozygous dominant.
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b. Likewise, the affected individual III-3 must have a genotype of aa. Both of her
parents must be heterozygous, Aa. This includes II-4.
Cystic fibrosis is an autosomal recessive genetic condition that results from the mutation of
a gene that codes for the synthesis of chloride ion channels in cell membranes. These
channels are important to create freely flowing mucus. Thus, one of its most serious
consequences is the continuous buildup of mucus in respiratory and digestive organs.
This buildup clogs the airways and ducts in our bodies. Other symptoms of cystic fibrosis
are shown in Fig. 1.3.9.
Fig. 1.3.9. Consequences of having two mutated alleles for cystic fibrosis
Another autosomal recessive condition in humans is the sickle cell disease. This disease
resulted from the mutation of the hemoglobin gene. As previously discussed, hemoglobin
is an important respiratory pigment that enables our red blood cells to transport oxygen.
This mutation which produces malformed hemoglobin, also results in an alteration in the
shape of the erythrocytes, hence the name sickle cell disease. As shown in Fig. 1.3.10,
affected individuals have sickle-shaped (or crescent-shaped) erythrocytes that taper on both
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ends. Unlike the normal ones, sickle-shaped red blood cells die prematurely. Also, these
abnormal blood cells can become stuck in blood vessels, which may lead to other
complications. Like phenylketonuria (discussed in an earlier chapter) and cystic fibrosis, two
copies of the mutant recessive alleles are required to have sickle cell disease.
Fig. 1.3.10. Sickle-shaped red blood cells have an impaired capacity for gas transport.
Did You Know?

Individuals who have one copy of the mutant allele for sickle cell
disease have a normal phenotype. These heterozygous individuals
were found to have increased resistance against malarial
infection.
In areas with a high prevalence of malarial infection, such as in

Africa, carriers of the gene for sickle cell disease are less prone to
acquire malaria. Apparently, having some sickle-shaped red blood
cells interferes with the infection process of Plasmodium, the
malarial parasite.
How does consanguineous mating become

disadvantageous to the members of the couple
involved?
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Remember
When analyzing pedigrees, and you are asked to provide the
genotypes of the individuals, there may be cases when you can
leave the second allele blank.
For example, an individual has a dominant phenotype, A__.

However, due to insufficient information, one cannot determine
whether the second allele is dominant or recessive. Thus, you may
leave it as it is.
Let’s Practice!
Example 1
A trait that runs in the family given below was analyzed by a genetic counselor. She was able
to illustrate its transmission through the pedigree given below. What is the mode of
inheritance of this trait? Justify your answer. (Take note that the carriers, if there are any, are
not marked with dots)
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Solution
Step 1: You are asked to determine the mode of inheritance of the trait.
Step 2: The pedigree for the trait that runs in the family is given.
Step 3: Assuming that the trait is autosomal dominant, then we can assign the
genotypes shown in the figure below.
A__ : affected individual
aa : unaffected individual
Individual III-3 is not possible because having an offspring with a dominant

trait is not applicable if both parents are recessive for the trait.
Step 3: Assuming that the trait is autosomal recessive, then we can assign the
genotypes shown in the figure below.
A__ : unaffected individual
aa : affected individual
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Step 5: Find the answer.
The trait in the given pedigree follows an autosomal recessive mode of inheritance
because two unaffected parents had an affected child.
1 Try It!
Jane and Robert married, and they had three children. If a genetic disorder, which
neither of them possesses, appeared in their third child, what is the mode of
inheritance of the condition?
Example 2
The following pedigree below shows the inheritance of an autosomal dominant trait in a
family. Given this mode of inheritance, what are the genotypes of all the individuals in
the pedigree? (Take note that the carriers, if there are any, are not marked with dots.)
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Solution
Step 1: You are asked to provide the genotypes of all the individuals in the given
pedigree.
Step 2: A pedigree that involves an autosomal dominant trait is given.
Step 3: Assign the corresponding genotypes.

A__ : affected individual
aa : unaffected individual
Step 4: Determine the genotypes of the individuals based on their phenotypes.
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Individuals I-1, I-3, II-2, II-4, II-5, and III-2 have the genotype Aa. Individuals I-2, I-4, II-1, II-3,
II-6, III-1, and III-3 have the genotype aa.
2 Try It!
Analyze the following pedigree below. Determine the mode of inheritance of the trait
that runs in the given family. Take note, however, that you have no information on
who among the family members is a carrier.
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Example 3
Agnes and Jerwin married. Their first child is a girl named Dorothy. She has two brothers
named Mark and Raymond, respectively. Mark and Raymond have a genetic condition that
causes them to have dark urine, which neither of their parents has. Later on, Dorothy
married Michael, who is unaffected, and they had three children. The first two children, a
boy, and a girl, respectively, are normal. However, their third child, who is a boy, has the
genetic condition that Mark and Raymond have. Furthermore, Raymond married Melissa,
who is unaffected. They have three children, the first two being boys, and the third one is a
girl, all of whom are affected. Construct a pedigree for this family and determine the mode
of inheritance of the genetic condition.
Solution
Step 1: Draw a pedigree for the given family with respect to the formation of dark
urine. Also, the mode of inheritance of this trait must be determined.
Step 2: We can tabulate the individuals in the problem to organize the given.
Generation 1 Generation 2 Generation 3
Son 1: unaffected
Dorothy: unaffected
Daughter 1: unaffected
Michael: unaffected
Son 2: affected
Agnes: unaffected
Mark: affected
Jerwin: unaffected
Son 1: affected
Raymond: affected
Son 2: affected
Melissa: unaffected
Daughter 1: affected
Step 3: Draw the pedigree.
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Step 4: Determine the mode of inheritance.

The mode of inheritance must be autosomal recessive. Agnes and Jerwin are
both unaffected, and they had two affected sons. Likewise, Dorothy and his
husband are both unaffected, but they had one affected son. Their unaffected
children (son 1 and daughter 1) can be homozygous dominant or
heterozygous.

The mode of inheritance must be autosomal recessive.
3 Try It!
Jane married Paul, who has a certain genetic condition that runs in his family. They
had three children. Their first child, a boy named Marco, does not have the condition.
However, their second and third children, Rica and Angela, both have the condition.
Later on, Angela married Dexter. They have five children, the first child being a girl
named Roxi. The rest are boys, the last two being affected by the condition.
Construct a pedigree of their family and analyze the mode of inheritance of the trait.
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Did You Know?

The OMIM or Online Mendelian Inheritance in Man is an
extensive online database about human genes and genetic
phenotypes. It contains comprehensive information of all known
Mendelian genetic disorders, comprising about 15 000 genes. This
is a free-access site, the link to which is provided below.
Online Mendelian Inheritance in Man.

John Hopkins University, “OMIM ®, Online Mendelian
Inheritance in Man ®, Online Catalog of Human Genes
and Genetic Disorders, Last updated on May 18, 2020,
https://www.omim.org/, last accessed on May 20, 2020.
Key Points
_________________________________________________________________________________________
● The analysis of the inheritance of traits in humans is a far more complicated task
compared with that of peas and fruit flies.
● The challenge of analyzing human inheritance lies in their longer generation time, the
limited sample size for analysis, and the impossibility of performing matings in
controlled environments.
● Pedigree analysis was devised to observe and analyze how a trait runs in families. It
uses a pedigree, a pictorial representation of the transmission of a characteristic in at
least two generations of families.
● Pedigrees in basic research and genetic counseling use a set of standard symbols and
notations.
● Pedigrees are used to determine the mode of inheritance of a trait.
○ Individuals with an autosomal dominant trait usually have at least one affected
parent.
○ Individuals with an autosomal recessive trait usually have no affected parents.
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Although, still, there are cases when one parent is also affected by the recessive
condition.
● Different genetic conditions in humans are autosomal. Achondroplasia is inherited as a
dominant trait, while phenylketonuria, cystic fibrosis, and sickle cell disease are
inherited as recessive traits.
The uses and applications of pedigree analysis in studying human inheritance

__________________________________________________________________________________________
Check Your Understanding
A. Determine the accuracy of each of the following statements.

Write true if the statement is correct and false if otherwise.
1. Controlled matings are possible in humans.

2. Generation time is shorter in peas than in humans.
3. Pedigree analysis can help assess the risk of recurrence of a genetic disorder.
4. Pedigrees are useful because of the very large sampling size possible for human
matings.
5. A proband is an individual who first sought the attention of a genetic counselor.
6. A couple whose members are second-degree cousins is an example of
consanguinity.
7. Cystic fibrosis is autosomal dominant.
8. Sickle cell disease is autosomal recessive.
9. A trait is autosomal recessive if two copies of the allele are needed to manifest the
trait.
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10. A trait is autosomal dominant if an affected individual has two unaffected parents.
B. By using gene B, determine the genotypes of the individuals in the

given pedigree below.
1. I-1 ___ 6. III-1 ___

2. I-2 ___ 7. III-3 ___
3. II-2 ___ 8. III-4 ___
4. II-3 ___ 9. III-5 ___
5. II-5 ___ 10. III-6 ___
Challenge Yourself
Answer the following questions.
1. Why is analyzing the inheritance of biological traits in humans more challenging than
that in fruit flies and peas?
2. Why is the mating between biological cousins genetically risky?
3. What are the limitations of performing pedigree analyses?
4. Determine the mode of inheritance of the trait that runs in the given pedigree below.
Justify your answer.
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5. Determine the mode of inheritance of the trait that runs in the given pedigree below.
Justify your answer.
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Photo Credits
Vanuatu-humans-of-vanuatu-2 by Graham Crumb/Imagicity.com is licensed under CC BY-SA
3.0 via Wikimedia Commons.
Eye Care Consultation by National Eye Institute is licensed under CC BY 2.0 via Flickr.
Peter Dinklage (9350750232), cropped, by Gage Skidmore from Peoria, AZ, United States of
America is licensed under CC BY-SA 2.0 via Wikimedia Commons.
Bibliography
Klug, W.S, and Cummings, M.R. Concepts of genetics (6th ed). Upper Saddle River, N.J:
Prentice-Hall. 2003.
Reece J., Taylor M., Simon E., and Dickey J. Campbell Biology: Concepts and Connections (7th
ed.). Boston: Benjamin Cummings/Pearson. 2011.
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Key to Try It!

1. The trait is autosomal recessive because neither of the parents has the trait, but it
was able to appear in one of the offspring.
2. Autosomal dominance is possible in the given pedigree. This can be seen in the
photo below.
Autosomal dominant
3. The pedigree for the inheritance of this trait can be illustrated as follows. Both
autosomal dominant and autosomal recessive modes are possible. Thus, more data
is needed to determine the actual mode of inheritance.
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Lesson 1.4 Sex Linkage and Recombination
BS IN Secondary Education (Arriesgado College Foundation Inc)
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Lesson 1.4
Sex Linkage and Recombination
Contents
Introduction 1
Learning Objectives 2
Warm Up 2
Learn about It! 4

Recombination 4
Sex Linkage 6
Sex-Linked Traits 7
X-Linked Traits 8
Color Blindness and Hemophilia Are X-Linked Traits 9
Y-Linked Traits 12
Inheritance of Sex-Linked Traits 12
Other Sex-Linked Traits 18
Key Points 20
Check Your Understanding 21
Challenge Yourself 22
Photo Credit 24
Bibliography 24
Key to Try It! 25
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Lesson 1.4
Sex Linkage and Recombination
Introduction
Is the red or green color that you see similar to that of what other people see? Color is one
of the properties of objects that our minds interpret. It intensifies our appreciation of
things—from a colorful rainbow to an aesthetic painting. Colors help us understand more
the world around us and even give us increased capacity for survival. However, some
people are partially color-blind. Have you ever wondered how they can still distinguish
between different colors? How can they win a basketball game if the opponent team’s color
is light green and theirs is dark green? How can a color-blind biology student pass a moving
exam that involves the identification of differently-colored pins? How could color-blind
people cross a pedestrian lane safely if they cannot distinguish which is red, green, or
yellow on the stoplight? If you can determine the numbers in the Ishihara chart above, you
do not belong to the small population of people who are color-blind. How do people
acquire this trait? Why is it more common in males than in females?
1.4. Sex Linkage and Recombination 1
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Learning Objectives DepEd Competency
In this lesson, you should be able to do the

Explain sex linkage and recombination.
following: (STEM_BIO11/12-IIIa-b-2)
● Describe how sex-linked traits are inherited.

● Calculate the probability of the
occurrence of a sex-linked trait.
● Give examples of other sex-related traits.
Warm Up
What Is It Like to Be Color-Blind? 15 minutes

Color blindness is a sex-linked trait wherein a person cannot properly distinguish between
colors. The gene for this trait is found on the X chromosome, but not on the Y chromosome.
Take the test below to determine if you belong to the small population of people with color
blindness. In addition, this activity will let you consider the possible challenges faced by
people who are color-blind.
Material
● a device with an Internet connection
Procedure
1. By using your Internet-connected device, access the link below to take a color
blindness test.
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EnChroma. “Color Blindness Test.”

“Color Blindness Test,” Enchroma,
https://enchroma.com/pages/test, last accessed on
September 17, 2019.
2. Check each image in the test and identify what number is shown. If you think that
there is no number shown, click “nothing.” If you are not sure if there is a number,
click “unsure.”
3. After taking the test, form a group with at least five members. Identify who among
the members are color-blind.
4. Ask the members who are color-blind, if there are any, about the challenges they
face based on the situations below. If there is no color-blind person in the group,
brainstorm on the possible challenges that color-blind person might face based on
the provided circumstances.
a. cooking or food preparation
b. doing a job that requires color vision
c. using various shades of paints in an art class
5. After brainstorming, let your group share your ideas with the class.
Guide Questions
1. What is color blindness?
2. What are the challenges faced by a color-blind person?
3. What can you do to help a person who is color-blind?
4. How does a color-blind person’s view of the world differ with a person with normal
vision?
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Learn about It!
Unlike you, your biological brother has a widow’s

peak and a cleft chin. If your genes are inherited
from the same parents, why do you look different?
Recombination
All cells in humans, except sex cells, are composed of 46 individual chromosomes, which is
equivalent to 23 pairs (as shown in Fig. 1.4.1). Each pair of chromosomes consists of genes
for the same physical features such as hair color or skin color. Each copy of a certain pair of
chromosomes may contain similar or different alleles. For example, one copy may code for
straight hair, while the other copy may code for curly hair. These pairs of chromosomes are
known as homologous chromosomes, or ones that have the same genes even if they have
different alleles.
Fig. 1.4.1 Gametes have 23 chromosomes, whereas body cells have 46 chromosomes. The
number of chromosomes is reduced during meiosis and restored during fertilization.
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Egg cells and sperm cells, unlike the other cells of the body, have only one copy of each
chromosome instead of two. Consequently, there are only 23 chromosomes in gametes
instead of 46. During gamete formation, cells undergo a process called meiosis. As shown
in Fig. 1.4.2, similar to mitosis, meiosis involves the duplication of the genetic material prior
to the actual division. However, the resulting daughter cells after meiotic division obtain one
copy of each chromosome instead of two. Furthermore, it is during this division that
homologous recombination occurs.
Fig. 1.4.2 Replication of the genetic material produces another copy of each member of the
homologous chromosomes.
The first part of meiosis involves the replication of chromosomes. This is shown in step 1 in
Fig. 1.4.3. The single copy of chromosomes will become two copies after replication.
Therefore, there will be two pairs of homologous chromosomes before meiosis progresses.
Steps 2 and 3 are the events when homologous chromosomes align and exchange genes
respectively. These steps involve the alignment of the pairs of homologs in an area known
as the metaphase plate and the exchange of genes between each of the members of the
homologous pairs.
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Fig. 1.4.3 Homologous recombination occurs during the meiotic division. This is one of the
mechanisms in sexually reproducing organisms that enhance genetic variation.
Steps 4 and 5 show the result of recombination, which refers to new allele combinations
that can be inherited by the offspring. The recombinant chromosomes may or may not
resemble the original chromosomes. If the recombination of homologous chromosomes
does not occur, each copy that will be received by the daughter cells will be an exact copy of
the original chromosomes. Therefore, homologous recombination may increase genetic
diversity. This is the reason why you and your sibling looks different even if your genes are
inherited from the same parents.
Sex Linkage
Recall that humans have 23 pairs of chromosomes. The 1st to 22nd pairs are called the
autosomes, and the 23rd pair consists of the sex chromosomes. Two X chromosomes (XX)
are found in females, whereas one X and one Y chromosomes (XY) are found in males. Fig.
1.4.4 shows a human male karyotype consisting of autosomes and sex chromosomes.
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Fig. 1.4.4 An example of a human karyotype showing the autosomal and sex chromosomal
pairs. Sex chromosomal combination varies between males and females.
Some of the genes that code for a certain trait can be located on the autosomes, while
others are located on the sex chromosomes. Genes located on the sex chromosomes are
called sex-linked genes, so their phenotypic manifestation and inheritance patterns may
vary between males and females.
How are sex-linked traits inherited?
Sex-Linked Traits
Genes that are located in either sex chromosomes are known as sex-linked genes. When
a trait is controlled by a gene in the X chromosome, it is called an X-linked trait. If the
trait is controlled by a gene in Y chromosome, it is called a Y-linked trait.
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X-Linked Traits
X-linked traits are more common in males than in females. This is because males have
only one X chromosome. Therefore, if a trait is linked to their single X chromosome, they
will already exhibit it in their phenotype. In females, X-linked traits are less common,
since females have two X chromosomes. It means that before a female expresses the
X-linked trait, the allele for the trait should be found in both X chromosomes. If only one of
the chromosomes is affected, the female is said to be a carrier of the trait but does not
express it in her phenotype.
Your female friend does not exhibit a sex-linked

trait but her brother does. What can possibly
account for this?
Generally, X-linked traits are more common in males, because they have a 1/2 or 50%
chance (50% chance of being normal or 50% chance of possessing the X-linked trait) to
express the trait. Females only have 1/3 or 33.3% chance (33.3% chance of being normal,
33.3% chance of being a carrier, and 33.3% chance of manifesting the X-linked trait) of
acquiring the trait.
Fig. 1.4.5 shows a pedigree chart of a sex-linked disorder. This pedigree chart shows the
inheritance of an X-linked disorder where the first-generation father is normal while the
mother is a carrier. These are shown by a fully shaded blue box and a half-shaded circle,
respectively. Refer to the legend on the upper-left side as a guide to interpret the chart.
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Fig. 1.4.5 Pedigree charts show a detailed history of the transmission of genetic disorders.
In the above pedigree, the X-linked gene for the disorder tends to be passed from the
mother to both sons and daughters. By contrast, fathers only pass the gene to their
daughters.
The pedigree chart shows that even if the mother is just a carrier of the trait and the
father is normal, there is still a possibility that they will have an offspring with an X-linked
trait. The number of fully-shaded red boxes represents a higher chance of possessing the
X-linked trait in males.
Abby is wearing a blue shirt, but she insists that it

is red. How is this possible?
Color Blindness and Hemophilia Are X-Linked Traits

Color blindness is the inability to distinguish certain colors. Depending on the type of
color blindness, some people with this condition can see objects only in shades of gray
(monochromatism), some cannot distinguish one of the primary colors of light: red, blue,
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green (dichromatism), while others still see colors but find it difficult to distinguish
shades of a certain color (anomalous trichromatism). This condition is inherited and
affects males more than females. The Ishihara chart below (Fig. 1.4.6) is used as a test
for color blindness. It is named after its inventor, a Japanese ophthalmologist named
Shinobu Ishihara. Each chart is composed of colored dots and a number or object. The
patient must be able to identify the number, or image, that is supposed to be visible in the
chart.
Fig. 1.4.6 There are eight Ishihara charts available for testing color blindness in humans.
How can color-blind people cross a pedestrian

lane safely if they cannot distinguish which is red,
green, or yellow on the stoplight?
Another X-linked trait is hemophilia. Hemophilia is a rare inherited bleeding disorder.

People with this condition bleed longer after an injury compared with a normal person. As
shown in the illustration below (Fig. 1.4.7), a healthy person will clot properly after a
hemorrhage occurs, but a hemophilic person will continue to bleed since he/she does not
have sufficient blood-clotting proteins.
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Fig. 1.4.7 Genetically normal individuals are phenotypically healthy people because of
normal blood clotting during injury. By contrast, hemophilic individuals may suffer blood
loss.
Hemophilia is sometimes termed as the “royal disease” because the royal families of
England, Germany, Russia, and Spain in the 19th and 20th centuries were affected by this
condition. Queen Victoria of England, who ruled from 1837 to 1901, was a carrier of
hemophilia. Her husband, Prince Albert, was not hemophilic. As shown in the pedigree
chart of the royal family below (Fig. 1.4.8), three out of nine children of Queen Victoria
inherited the trait. Her son Leopold died because of a hemorrhage when he was 30. Her
other two daughters who inherited the trait, Alice and Beatrice, passed the trait onto their
offspring. The pedigree chart of the royal family shows that hemophilia, an X-linked trait, is
really more common in males than in females.
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Fig. 1.4.8 A truncated pedigree chart of Queen Victoria's descendants gives emphasis on
the paths of the hemophilia gene in succeeding generations.
Y-Linked Traits
Y-linked traits are only seen in males since only males have a Y chromosome. Therefore, if
the father possesses the Y-linked trait, all the male offspring will acquire the trait. The
female offspring will never acquire and express the trait. An example is the hypertrichosis
pinnae auris trait. This trait is characterized by having hairy ears.
Why is sex-related inheritance not following

Mendel’s laws?
Inheritance of Sex-Linked Traits

In Mendelian inheritance, the heterozygous genotype expresses the dominant trait. On
the other hand, the heterozygous genotype of X-linked traits in females will result in a
carrier female. The female will only express the phenotype if both of the X chromosomes
have the gene for the X-linked trait.
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In males, once their X chromosome has the allele for an X-linked trait, they will already
express that trait. This is because males only have one X chromosome. The table below
(Table 1.4.1.) shows the possible genotypes for color blindness. The same genotypes will
be used for hemophilia, but the letter C attached to the sex chromosome will be changed
into H.
Table 1.4.1. Possible color blindness genotypes and phenotypes of males and females
Female Male
Genotypes Phenotypes Genotypes Phenotypes
XX Normal female XY Normal male
XCX Carrier female XCY Color-blind male
XCXC Color-blind female
In a Y-linked trait, only males will express the trait. They have a 50% chance of being
normal and 50% chance of having the Y-linked trait. In females, there is a 0% chance of
acquiring the trait. This is because females do not have Y chromosomes.
Did You Know?

There was no solution in the past to help color-blind people see or
distinguish colors. Nowadays, special lenses are created to filter
out various mixes of colors in order for color-blind people to see
colors differently.
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Special lenses are developed to help color-blind people distinguish

the colors of the white light spectrum.
Let’s Practice!
Example 1
Anna, who is a carrier of hemophilia, marries Juan, a man without hemophilia. Identify the
phenotype of their possible offspring.
Solution
Step 1: Identify the genotypes of both parents.
Anna is a carrier of hemophilia. → XHX
Juan is normal. → XY
Step 2: Create a Punnett square.
Anna
XH X
X XHX XX
Juan
Y XHY XY
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Step 3 Interpret the results.

XHX = carrier female
XX = normal female
XHY = hemophiliac male
XY = normal male
Step 4 Provide the final answer.

The possible trait of the female offspring of Anna and Juan is 50%
normal and 50% carrier. If the offspring is male, the chances are 50%
hemophiliac and 50% normal.
1 Try It!
Identify the phenotype of the possible offspring of a color-blind woman married to a
man with normal color vision.
Example 2
Marie, a single mom, claimed that John was the father of her child. John denied it, claiming
that Marie’s current boyfriend was the father. Marie is color-blind, while John has normal
vision, and the daughter is color-blind. Is it possible that he is the father?
Solution
Step 1: Identify the genotypes of both parents.
Marie is color-blind. → XCXC
John is normal. → XY
Step 2: Create a Punnett square.
lOMoARcPSD|22148550
Marie
XC XC
X XCX XCX
John
Y XCY XCY
Step 3: Interpret the results.

XCX = carrier female
XYC
= color-blind male
Step 4: Provide the final answer.

If Marie is color-blind and John has normal vision, they cannot have a
daughter who is color-blind. Based on the Punnett square, the
phenotype of the possible offspring if John is the father is carrier
females and color-blind males.
2 Try It!
Someone removed the ID bracelets of four babies in a maternity ward. The parents
want to be sure that they have the right ones back. A particular dad is hemophilic,
while his wife is normal. The first baby is a hemophilic female; the second is a normal
female; the third is a hemophilic male, and the fourth is a normal male. Which baby
must be theirs? Explain.
Example 3
There was a man who was acting strangely at a restaurant, so the police were called in.
When the police arrived, they noticed that the man was with a young girl. The man claims
that he is the girl’s father, but the girl is too young or too afraid to answer questions. The
young girl is color-blind, and the man has a normal vision. Is he telling the truth that he is
the father?
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Solution
Step 1: Identify the genotypes of the father and the young girl.
The young girl is color-blind. →X X
C C
The man has a normal vision. → XY

Step 2: Create a Punnett square. Do a trial and error of the possible genotypes
of the mother to check if there is a possibility that if the mother is
married to the man, one of the offspring will be a color-blind girl.
Possibility 1: The mother is color-blind (XCXC).
Possible Mother
XC XC
X XCX XCX
Man
Y XCY XCY
Possibility 2: The mother is a carrier (XCX).
Possible Mother
XC X
X XCX XX
Man
Y XCY XY
lOMoARcPSD|22148550
Possibility 3: The mother has normal vision (XX).
Possible Mother
X X
X XX XX
Man
Y XY XY
Step 3: Interpret the results.

Possibility 1 offspring → 2 carrier females, 2 color-blind males
Possibility 2 offspring → 1 carrier female, 1 normal female, 1 color-blind
male, 1 normal male
Possibility 3 offspring → 2 normal females, 2 normal males
Step 4: Provide the final answer.
It is not possible that the man is the father of the young girl, since
whatever the genotype of the mother, it is impossible to have a
color-blind daughter if the father has normal vision.
3 Try It!
The mother of a baby girl died shortly after giving birth. The girl grew up without
knowing her biological father. This led her to hire a detective to locate her father. If
the mother is a carrier of hemophilia, and the girl is hemophilic, what characteristics
of the father should the girl expect from the detective’s report?
Other Sex-Linked Traits

Other sex-related traits are the sex-influenced and sex-limited traits. Both traits are
autosomal, which means that as opposed to the sex-linked trait, these traits are not
located on the sex chromosomes. However, sex still has something to do with the
expression of the trait.
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Sex-influenced traits can be found in both sexes but expressed more in one sex than
in the other. In other words, the manner of expression is different between sexes. An
example of this is the baldness trait. Baldness (coded by allele B) is more common in
males than in females because they have a 2/3 or 66.7% chance of acquiring the trait. As
shown in the table below, the possibility of a male to acquire the trait is 2 (Bb and Bb) out
of 3 genotypes. On the other hand, females only have 1/3 or 33.3% chance of acquiring
the trait. It is because the possibility of a female to acquire the trait is 1 (BB) out of 3
genotypes. This means that males will become bald if they have at least one copy of the
baldness allele. Females need two copies of baldness allele to become bald. Note in the
table below (Table 1.4.2.) that, because the trait is already autosomal, males and females
will have the same set of genotypes unlike that of in X-linked traits.
Table 1.4.2. Possible genotypes and corresponding phenotypes for male and females
differ in pattern baldness.
Female Male
BB Bald BB Bald
Bb Non-bald Bb Bald
bb Non-bald bb Non-bald
By contrast, genes for sex-limited traits can be found in both sexes but only one sex
expresses it on their phenotype. An example of this trait is the lactation trait or the
ability of the mammary glands to produce milk. The gene for this trait is found both in
males and in females. However, only the females express it in their phenotype. The table
below (Table 1.4.3.) shows that the trait (coded by allele R) is found in male genotypes but
any genotype could not express the lactation trait in the phenotype of males.
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Table 1.4.3. Genotypes and corresponding phenotypes differ between sexes in lactation.
Female Male
RR Lactating RR Not lactating
Rr Lactating Rr Not lactating
rr Not lactating rr Not lactating
Key Points
_____________________________________________________________________________________
● Recombination is a mechanism where the homologous pairs of chromosomes

exchange genes.
● Sex linkage is termed as such because their phenotypic manifestation and
inheritance patterns vary between males and females. Therefore, genes that go
along with either sex chromosome are said to be sex-linked.
○ When the trait is linked to the X chromosome, it is called an X-linked trait
while if the trait is linked to the Y chromosome, it is called a Y-linked trait.
○ As opposed to Mendelian inheritance wherein the heterozygous genotype
expresses the dominant trait, the heterozygous genotype of an X-linked trait
in females will result in a carrier female.
● Other sex-related traits are the sex-influenced and sex-limited traits.
○ Sex-influenced traits can be found in both sexes but expressed more in
one sex than in the other.
○ Sex-limited traits have genes that can be found in both sexes but only one
sex expresses it on their phenotype.
_____________________________________________________________________________________
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Check Your Understanding
A. Identify if the following statements describe X-linked, Y-linked,

sex-limited, or sex-influenced inheritance. Put a checkmark on the
appropriate column.
Statement X-linked Y-linked Sex-limited Sex-influenced
1. Genes are found

on the X
chromosome.
2. An example of
this is the
lactation trait.
3. Traits are
expressed more
frequently in
one sex than in
the other.
4. Traits are
expressed
exclusively in
one sex.
5. An example of
this is the
hypertrichosis
pinnae auris
trait.
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B. Compute for the probability of the indicated offspring given the parental
genotypes or phenotypes.
1. a color-blind daughter from a normal father and a carrier mother

2. a color-blind son from a normal father and a carrier mother
3. a normal son from a normal father and a genetically normal mother
4. a carrier daughter from a carrier mother and a normal father
5. a genetically normal daughter from a normal father and color-blind mother
6. a hemophilic son from a hemophiliac father and a genetically normal mother
7. a daughter who is genetically normal for clotting from a carrier mother and a
hemophilic father
8. a carrier daughter from a hemophiliac father and a genetically normal mother
9. a bald son from a non-bald father and bald mother
10. a bald daughter from a heterozygous bald father and a bald mother
11. a non-bald son from a homozygous bald father and a non-bald mother
12. a bald daughter from a homozygous bald father and a non-bald mother
13. a bald son from a homozygous non-bald mother and a heterozygous father
14. a non-bald son from non-bald father and a bald mother
15. a lactating daughter from a non-lactating father and a homozygous lactating
mother
Challenge Yourself
Answer the following questions.
1. Why are X-linked traits more common in males than in females?

2. What is the difference between the three sex-related traits in terms of location of
genes and occurrence in males and females?
3. By using a Punnett square, show the possible traits of the offspring of the following
parents. Identify the possibility (percentage) and phenotype of the possible children.
Use the table below to identify the genotypes or phenotypes of the parents.
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Names Color blindness Lactation Baldness
1. Liza Normal rr Bb
2. Kath Carrier RR bb
3. Nadine Carrier Rr Bb
4. James Color-blind RR bb
5. Daniel Color-blind rr Bb
6. Enrique Normal Rr BB
a. Color blindness trait of Kath and Daniel

b. Lactation trait of Liza and James
c. Baldness trait of Enrique and Nadine
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Photo Credit
Eight Ishihara charts for testing colour blindness, Europe Wellcome L0059163.jpg by
Wellcome Images is licensed under CC-BY 4.0 via Wikimedia Commons.
Bibliography
Johnson, G.B., and Raven, P.H. 2001. Biology: Principles & Explorations. Austin: Holt, Rinehart,
and Winston.
Klug, W.S., Spencer, C.A., and Cummings, M.R. 2016. Concepts of Genetics. Boston: Pearson.
Mader, S.S. 2014. Concepts of Biology. New York: McGraw-Hill Education.
Reece, J.B. and Campbell, N.A. 2011. Campbell Biology. Boston: Benjamin
Cummings/Pearson.
Starr, Cecie, Ralph Taggart, Christine A. Evers, and Lisa Starr. Biology: the Unity and Diversity
of Life. Boston, MA: Cengage, 2019.
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Key to Try It!

1. Identify the phenotype of the possible offspring of a color-blind woman married to a
man with normal vision.
Mother
XC XC
X XCX XCX
Father
Y XCY XCY
The possible offspring will be 100% carrier female and 100% color-blind male.
2. Someone removed the ID bracelets of four babies in a maternity ward. The parents
want to be sure that they have the right ones back. A particular dad is hemophilic,
while his wife is normal. The first baby is a hemophilic female; the second is a
normal female; the third is a hemophilic male, and the fourth is a normal male.
Which baby must be theirs? Explain.
Mother
X X
XC XCX XCX
Father
Y XY XY
Their baby must be the normal male since it is the only possible offspring that
would result from the cross.
3. The mother of a baby girl died after giving birth. The girl grew up without knowing
her biological father. This led her to hire a detective to locate her father. If the
lOMoARcPSD|22148550
mother is a carrier of the hemophilia trait, and the girl is hemophilic, what
characteristics of the father should the girl expect from the detective’s report?
Possibility 1 → The father is hemophilic (X Y). H
Mother
XH X
XH XHXH XHX
Father
Y XHY XY
Possibility 2 → The father is not hemophilic (XY)

Mother
XH X
X XHX XX
Father
Y XHY XY
The girl should expect her father is hemophilic since it is the only
possible genotype of the father that will result in an offspring who is a hemophilic
female.

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General Biology 1/2

Science, Technology, Engineering, and Mathematics

Predict genotypes and phenotypes of parents

...have you ever

...have you ever

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Thus, we can have the genetic cross as follows:

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F1 generation 100% or All Tall

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