Bio Ni Meinard
Bio Ni Meinard
Bio Ni Meinard
Mendelian Laws of
Inheritance
General Biology 2
1/2
Science, Technology, Engineering, and Mathematics
What traits run in your
family? What did you
inherit from your
parents? What makes
your family distinct from
other families?
2
How well do you resemble your siblings? Do you share
the same facial features and complexion?
3
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.
4
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?
5
How did the experiments of
Gregor Mendel lay the
foundation for the study of
transmission genetics?
6
Learning Competency
At the end of the lesson, you should be able to do the following:
7
Learning Objectives
At the end of the lesson, you should be able to do the following:
8
Introduction to Inheritance
Looking at
yourself in the
mirror...
9
Introduction to Inheritance
10
Introduction to Inheritance
11
Introduction to Inheritance
Genetics answers
most of our inquiries
about how traits are
transmitted from
parents to their
children.
12
Introduction to Inheritance
Genetics
Heredity Variation
13
Introduction to Inheritance
Genetics
Heredity Variation
14
Introduction to Inheritance
Genetics
Heredity Variation
15
Introduction to Inheritance
Genetics
Heredity Variation
16
Introduction to Inheritance
Branches
of Genetics
Branches
of Genetics
Transmission genetics
deals with different
patterns of inheritance. Population genetics
20
Introduction to Inheritance
Branches
of Genetics Population genetics
deals with how
forces of evolution
influence genes in
Transmission genetics populations.
21
Introduction to Inheritance
Farm Father of
Tender Genetics
Augustinian
Beekeeper
Academician Monk
23
Brief Background of Gregor Mendel
24
Pea Plant Hybridization
Mendel chose
the legumes
garden peas or
Pisum sativum
for his
hybridization
experiments.
25
Pea Plant Hybridization
26
Pea Plant Hybridization
What makes
peas ideal
for genetic
studies?
27
Pea Plant Hybridization
They
What makes exhibit
peas ideal
for genetic vigorous
studies? growth.
28
Pea Plant Hybridization
They can
self-
fertilize.
They
What makes exhibit
peas ideal
for genetic vigorous
studies? growth.
29
Pea Plant Hybridization
They can
self-
fertilize.
They
What makes exhibit They can
peas ideal
for genetic vigorous cross-
studies? growth. fertilize.
30
Challenges faced by Mendel
Pangenesis
Blending
theory
31
Challenges faced by Mendel
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory
32
Challenges faced by Mendel
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. 33
Challenges faced by Mendel
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. 34
Challenges faced by Mendel
Previous Notions
of Inheritance
Pangenesis
Homunculus
theory
Blending
theory The blending theory of inheritance states
that traits of parents blend every
generation of offspring. 35
Rediscovery of Mendel’s Work
37
Review of Genetic Terminologies
A chromosome consists of a
DNA molecule, which serve as
the repository of genetic
information in cells.
Review of Genetic Terminologies
A characteristic is a heritable
feature of an organism.
Review of Genetic Terminologies
Alleles are
the alternative
forms of a
gene.
Review of Genetic Terminologies
The genotype is
homozygous if
the alleles are
identical.
Review of Genetic Terminologies
The genotype is
heterozygous if
the alleles are
different.
Review of Genetic Terminologies
Tall Round-seeded
Review of Genetic Terminologies
Tall Round-seeded
Phenotypes refer to the actual manifestation
of genotypes into observable traits.
Review of Genetic Terminologies
57
Monohybrid Cross
59
Monohybrid Cross
60
Monohybrid Cross
61
Monohybrid Cross
P generation
F1 generation
F2 generation
62
Monohybrid Cross
F1 generation
F2 generation
63
Monohybrid Cross
P generation
F2 generation
64
Monohybrid Cross
P generation
F1 generation
Result 1:
The dwarf trait
disappeared in the F1
generation.
66
Monohybrid Cross
P generation
Result 1:
The dwarf trait
disappeared in the F1
generation.
F1 generation
67
Monohybrid Cross
P generation
Result 1:
The dwarf trait
disappeared in the F1
generation.
F1 generation
Explanation:
Tall trait must be
dominant over the
dwarf trait.
68
Monohybrid Cross
Principle of
Dominance
69
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
70
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
71
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
t - dwarf
72
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
t - dwarf
Thus, we will have the corresponding genotypes and phenotypes :
73
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
t - dwarf
Thus, we will have the corresponding genotypes and phenotypes :
TT - tall
74
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
t - dwarf
Thus, we will have the corresponding genotypes and phenotypes :
TT - tall Tt - tall
75
Monohybrid Cross
Principle of
Dominance
If we assign letters to each allele :
T - tall
t - dwarf
Thus, we will have the corresponding genotypes and phenotypes :
77
Monohybrid Cross
Phenotypes Genotypes
P generation
F1 generation
F2 generation
78
Monohybrid Cross
Phenotypes Genotypes
F1 generation
F2 generation
79
Monohybrid Cross
Phenotypes Genotypes
F1 generation
F2 generation
80
Monohybrid Cross
Phenotypes Genotypes
F1 generation
F2 generation
81
Monohybrid Cross
Phenotypes Genotypes
F2 generation
82
Monohybrid Cross
Phenotypes Genotypes
F2 generation
83
Monohybrid Cross
Phenotypes Genotypes
Phenotypes Genotypes
F2 generation 3/4 Tall: 1/4 Dwarf 1/4 TT: 2/4 Tt: 1/4 tt
85
Monohybrid Cross
Result 2:
The phenotypes in the
F2 generation occur in
a ratio of 3:1.
86
Monohybrid Cross
F1 generation
Result 2:
The phenotypes in the
F2 generation occur in
a ratio of 3:1.
F2 generation
87
Monohybrid Cross
F1 generation
Result 2:
The phenotypes in the
F2 generation occur in
a ratio of 3:1.
F2 generation
88
Monohybrid Cross
F1 generation
Result 2:
The phenotypes in the
F2 generation occur in
a ratio of 3:1.
F2 generation
Explanation:
The alleles are
segregating during
gamete formation.
89
Monohybrid Cross
Law of Segregation
90
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
91
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
92
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles
93
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t
94
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t
progeny
95
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt
96
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt Tt Tt
97
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t
progeny Tt Tt Tt Tt
98
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t T t T t
progeny Tt Tt Tt Tt
99
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t T t T t
progeny Tt Tt Tt Tt TT Tt
100
Monohybrid Cross
Law of Segregation
P generation cross F1 generation cross
TT × tt Tt × Tt
alleles T T t t T t T t
progeny Tt Tt Tt Tt TT Tt Tt tt
101
Punnett Square
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
6. Combine gametes. t
7. Determine phenotypes.
t
8. Determine ratios. 107
Punnett Square
6. Combine alleles. t Tt Tt
7. Determine phenotypes.
t Tt Tt
8. Determine ratios. 108
Punnett Square
6. Combine alleles. t Tt Tt
(Tall) (Tall)
7. Determine phenotypes.
t Tt Tt
8. Determine ratios. (Tall) (Tall) 109
Punnett Square
6. Combine alleles. t Tt Tt
GR: 100% Tt
(Tall) (Tall)
7. Determine phenotypes. PR: 100% Tall
t Tt Tt
8. Determine ratios. (Tall) (Tall) 110
Punnett Square
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
5. Distribute alleles.
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles. T
7. Determine phenotypes.
t
8. Determine ratios. 116
Punnett Square
6. Combine alleles. T TT Tt
7. Determine phenotypes.
t Tt tt
8. Determine ratios. 117
Punnett Square
6. Combine alleles. T TT Tt
(Tall) (Tall)
7. Determine phenotypes.
t Tt tt
8. Determine ratios. (Tall) (Dwarf) 118
Punnett Square
121
Dihybrid Cross
122
Dihybrid Cross
123
Dihybrid Cross
124
Dihybrid Cross
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles.
7. Determine phenotypes.
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles. ry
7. Determine phenotypes.
ry
8. Determine ratios.
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
7. Determine phenotypes.
r
8. Determine ratios.
Punnett Square
7. Determine phenotypes. Y rY
r
8. Determine ratios. y ry
Punnett Square
6. Combine alleles.
7. Determine phenotypes.
8. Determine ratios.
Punnett Square
6. Combine alleles. rY
7. Determine phenotypes.
ry
8. Determine ratios.
Punnett Square
Result 2:
The phenotypes in the F2
generation occur in a ratio
of 9:3:3:1
155
Dihybrid Cross
Result 2:
The phenotypes in the F2
generation occur in a ratio
of 9:3:3:1
156
Dihybrid Cross
Result 2:
The phenotypes in the F2
generation occur in a ratio
of 9:3:3:1
Explanation:
The genes for seed shape
and color are independently
assorting.
157
Dihybrid Cross
158
Is the law of segregation still
applicable when two genes are
already involved? Why do you
think so?
159
Laws of Inheritance and Gametogenesis
Both laws of
inheritance operate
during the
Anaphase I of
meiosis during
gamete formation.
160
How is the separation of
homologous chromosomes
relevant to the laws of
inheritance?
161
Let’s Practice!
162
Let’s Practice!
164
Let’s Practice!
165
Let’s Practice!
The genotypic ratio of the cross is 1/2 AA: 1/2 aa. The
phenotypic ratio is 1/2 axial: 1/2 terminal.
166
Try It!
167
Let’s Practice!
168
Let’s Practice!
172
Let’s Sum It Up!
173
Let’s Sum It Up!
174
Let’s Sum It Up!
176
Let’s Sum It Up!
177
Let’s Sum It Up!
178
Challenge Yourself
179
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.
● 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.
180
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.
181
Lesson 1.4
Sex Linkage and Recombination
General Biology 2
Science, Technology, Engineering, and Mathematics
Is the red or
green color that
you see similar
to that of what
other people
see?
2
If you can
determine the
numbers in this
Ishihara chart,
you do not
belong to the
small population
of people who
are color-blind.
3
How do people acquire this
trait? Why is it more common in
males than in females?
4
Learning Competency
At the end of the lesson, you should be able to do the following:
5
Learning Objectives
At the end of the lesson, you should be able to do the following:
6
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?
7
Recombination
9
Recombination
10
Recombination
11
Recombination
12
Recombination
13
How are sex-linked traits
inherited?
14
Sex Linkage
Human Chromosomes
● The 1st to 22nd pairs
are called the
autosomes, and the
23rd pair is termed as
the sex chromosome.
A human karyotype
15
Sex Linkage
Human Chromosomes
● Genes that go along
with either sex
chromosome are said
to be sex-linked.
A human karyotype
16
Sex Linkage
Human Chromosomes
● When the trait is linked
to the X chromosome,
it is called an X-linked
trait.
18
Sex Linkage
X-linked Trait
● The X-linked trait is
more common in
males than in females.
X-linked Trait
● 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.
Pedigree chart of the inheritance of an
X-linked disorder
20
Sex Linkage
X-linked Trait
● Generally, males
have a 1/2 or 50%
chance (50% chance
of being normal or
50% chance of
possessing the
X-linked trait) to
Pedigree chart of the inheritance of an
express the trait. X-linked disorder
21
Sex Linkage
X-linked 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
Pedigree chart of the inheritance of an
acquiring the trait. X-linked disorder
22
Abby is wearing a blue shirt, but
she insists that it is red. How is
this possible?
23
Sex Linkage
Color Blindness Is an
X-linked Trait
● Colorblindness is the
inability to distinguish
certain colors.
25
How can color-blind people
cross a pedestrian lane safely if
they cannot distinguish which is
red, green, or yellow on the
stoplight?
26
Sex Linkage
Hemophilia is an X-linked
Trait
● Hemophilia is a rare
inherited bleeding
disorder.
● People with this condition
bleed longer after an
injury as compared to a
A healthy and hemophilic
normal person. person’s response to hemorrhage
27
Sex Linkage
Y-linked Trait
● The Y-linked trait is only common in males since only
males have the Y chromosome.
28
Why is sex-related inheritance
not following Mendel’s laws?
29
Sex Linkage
Female
Male
Genotypes Phenotypes
Genotypes Phenotypes
XX Normal female
XY Normal male
X CX Carrier female
X CY Color-blind male
C C
X X Color-blind female
30
Sex Linkage
Sex-Related Inheritance
● 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.
31
Let’s Practice!
32
Let’s Practice!
33
Try It!
34
Let’s Practice!
35
Let’s Practice!
36
Let’s Practice!
39
Let’s Practice!
Sex-influenced Trait
● Sex-influenced traits
are controlled by
autosomal genes.
● The genes are found on
both sexes, but one
expresses it more than
the other. Human pattern baldness is a
sex-influenced characteristic.
42
Sex Linkage
Female Male
BB Bald BB Bald
Bb Non-bald Bb Bald
bb Non-bald bb Non-bald
43
Sex Linkage
Sex-limited Trait
● Sex-limited traits are also
controlled by autosomal
genes.
● The genes are also found on
both sexes, but only one sex
expresses it.
Lactation is a
female-limited trait. 44
Sex Linkage
Female Male
45
Check Your Understanding
48
Let’s Sum It Up!
49
Let’s Sum It Up!
50
Challenge Yourself
51
Photo Credit Bibliography
Johnson, G.B., and Raven, P.H. 2001. Biology: Principles &
Explorations. Austin: Holt, Rinehart, and Winston.
52
Unit 1: Laws of Inheritance
Lesson 1.1
Mendelian Laws of Inheritance
Contents
Introduction 1
Learning Objectives 2
Warm Up 2
Bibliography 28
Unit 1: Laws of Inheritance
Lesson 1.1
Introduction
What traits run in your family? What makes your family very distinct from that of your
friends and acquaintances? Have you also wondered why some features of your parents
are only present in some of your siblings? You may have inherited the complexion of your
mother, but have inherited the stature of your father. The hair type of your siblings might
also be different from both of your parents. You and your friends might even claim that
you have inherited the intelligence of your mother or father. Inheritance may also go
beyond our physical features. Some of you may probably be aware that a severe genetic
disorder runs in your family. It may be an increased risk for hypertension, obesity, or
diabetes, or a less lethal form, such as color blindness.
1.1. Mendelian Laws of Inheritance 1
Unit 1: Laws of Inheritance
The diversity in the combinations of traits we have can be attributed to our sexual means
of reproduction. Because individuals from different sexes contribute half of their genetic
material, the resulting offspring is not genetically identical to either parent. Alongside the
increased variation, chance also comes into play. Different combinations of traits of the
mother and father will manifest in each of their children. In some cases, sets of characters
from both parents will not appear in their offspring. This chapter will discuss the very
foundation of the study and the underlying mechanisms of inheritance, tracing its roots
from the experiments of Gregor Mendel, the father of modern genetics.
Warm Up
The Genetic Boat Is Sinking:
15 minutes
Survival By Chance
Look at your classmates. How do you think your class varies genetically? Which features do
you think your classmates inherited from their parents? How about you? What traits did you
get from your mother and your father? In this activity, the entire class will play The Boat is
Sinking but with a genetic twist.
Materials
● paper lots with the genetic traits (accessible in the web link below)
1.1. Mendelian Laws of Inheritance 2
Unit 1: Laws of Inheritance
Procedure
1. You will be doing this activity as an entire class. Distribute yourselves around the
classroom. Note that you will play a game that is based on The Boat is Sinking.
2. The teacher shall access the link below before the class.
1.1. Mendelian Laws of Inheritance 3
Unit 1: Laws of Inheritance
Guide Questions
1. Which of the traits mentioned in the activity is/are genetic? What makes them
genetic?
2. Why do you think some of your classmates possess these traits while others do not?
3. Why do you think it is important for you to understand the genetic basis of biological
traits?
Fig. 1.1.1. The different varieties of corn show genetic diversity.
1.1. Mendelian Laws of Inheritance 4
Unit 1: Laws of Inheritance
Genetics, just like any other discipline, has different subfields. Table 1.1.1. briefly describes
some of these subfields.
Table 1.1.1. Examples of fields under genetics
Field Descriptions
Fig. 1.1.2. Transmission genetics is concerned with the possible outcomes of mating among
different plant and animal species. To determine these outcomes, one must understand
how genes behave to establish patterns or mechanisms of inheritance.
Transmission genetics will be the focus of this chapter. This field, being the oldest, is also
closely associated with classical genetics or Mendelian genetics. Transmission genetics
aims to make predictions about the outcomes of genetic crosses and matings (as in Fig.
1.1.2), as well as the possibilities of parents having children with traits that run in their
families.
1.1. Mendelian Laws of Inheritance 5
Unit 1: Laws of Inheritance
Fig. 1.1.3. Gregor Mendel (1822–1884), the father of genetics, made vital contributions to
the science of heredity through his pea plant experiments at the Augustinian monastery.
1.1. Mendelian Laws of Inheritance 6
Unit 1: Laws of Inheritance
Pea Plant as Mendel’s Model Organism
Mendel’s experiments were actually borne out of his interest for ornamental flowers. He
even performed separate experiments involving honeybees. His study on garden peas or
Pisum sativum (shown in Fig. 1.1.4) brought him the greatest success in the field of
genetics.
B
A C
Fig. 1.1.4. Garden pea or Pisum sativum is a type of legume. Its flowers may either be violet
(A) or white (B). Being a legume, its fruits (C) are elongated or pod-shaped, with seeds
attached to only one side of the fruit or pod wall.
Mendel chose Pisum sativum for various reasons, which are the following:
● First, it exhibits more vigorous growth (approximately 70 to 80 days harvest period)
compared to other plants.
● Second, these plants are easy to cross-fertilize. The flowers of peas contain both
male and female organs, particularly, the stamens and pistil. Obtaining pollen grains
from the anthers from one plant and delivering them to the stigma of another plant
will allow fertilization. If this is done between plants with different traits, then
hybridization is performed. The offspring of the mating, consequently, are referred
to as hybrids.
1.1. Mendelian Laws of Inheritance 7
Unit 1: Laws of Inheritance
● Lastly, pea plants are also capable of self-fertilization through self-pollination. A
modified petal of the pea flower is capable of covering the reproductive structures.
This allows peas to naturally self-pollinate.
The mechanism of self-pollination was particularly important for Mendel because all of his
crosses begin with true-breeding plants or strains. If plants breed true for a particular trait,
then many generations of mating will never produce new traits. For example, if a pea
plant breeds true for violet flowers, repeated mating among these true-breeding
violet-flowered plants will never produce offspring with other flower colors.
Mendel’s Challenges and the Rediscovery of His Work
Gregor Mendel made an outstanding achievement when he was able to determine the basic
patterns of inheritance. One primary reason for this is that, during his time, people had no
idea that genes are found in the DNA. He had no clue that the genetic material contains
the instructions for the expression of biological traits. Predating today’s knowledge on
heredity were different theories to explain inheritance, but have all since been debunked:
● One theory was pangenesis. This attempted explanation was proposed by
Hippocrates in 400 B.C.E. According to him, “seeds” are produced in different organs
of the body. When it is time for an individual to reproduce, all of the seeds will gather
to form the offspring.
● Later on, the invention of the microscope allowed people to observe sperm cells.
This made them propose that sperm cells may bear a homunculus or “little man,”
which will eventually develop in the womb of the mother.
● Lastly, another long-held explanation was the blending theory of inheritance,
which states that both parents will equally contribute to the genetic traits of their
offspring. Also, traits were considered to always blend every generation.
Mendel’s statistical and mathematical prowess, alongside his patience and perseverance,
made him refute all prior notions about inheritance. In 1866, Mendel was able to publish
the fruits of his work through the paper entitled The Experiments on Plant Hybridization.
However, his work was ignored even until he died in 1884. It was only in 1900 that his paper
was separately rediscovered by Hugo de Vries of Holland, Carl Correns of Germany, and
Erich von Tschermak of Austria (as shown in Fig. 1.1.5).
1.1. Mendelian Laws of Inheritance 8
Unit 1: Laws of Inheritance
A B C
Fig. 1.1.5. Three individuals, namely, Hugo de Vries (A, 1848–1935), Carl Correns (B,
1864–1933), and Erich von Tschermak (C, 1871–1962) rediscovered Mendel’s work.
Review of Genetic Terminologies
In the discussion of transmission genetics, several terminologies will be repeatedly used.
You should also understand them well to improve your skills in solving genetic problems.
Genes (as in Fig. 1.1.6) refer to the basic unit of heredity. Mendel termed these genes as
“unit factors” that control the expression of biological characteristics. A characteristic is
any heritable feature of an organism, which is under the control of a particular gene.
Different genes control flower color, hair color, and skin color, which are examples of
characteristics. The definite position that a gene occupies in a chromosome is called a locus
(plural, loci). A gene for a particular characteristic usually has different alternative forms,
which are called alleles. In the figure given below, two gene loci are given: one for the
height of a pea plant and another for the texture of its pods. If you look at the gene for pod
texture, two versions exist—one for wrinkled pods and another for smooth pods.
1.1. Mendelian Laws of Inheritance 9
Unit 1: Laws of Inheritance
Fig. 1.1.6. Genes and alleles in Pisum sativum can be accurately represented by a
homologous pair of chromosomes.
Two chromosomes are used to represent genes and alleles above. This is to emphasize that
our chromosomes, similar to most organisms, occur in pairs called homologous
chromosomes. The members of each pair originate from each of our parents. Thus, for
animals and most plants, two genes control the expression of a particular
characteristic. For us, humans, we inherit each of these genes from our mother and father.
Also, in Fig. 1.1.6, the individual has identical alleles for height (both alleles for tall). Thus,
this individual is said to be homozygous for height. If this individual happens to have
inherited an allele for “dwarf” trait from its parent 2, then its alleles will become different
from each other, making it heterozygous (or hybrid) for height. This is the case for pod
texture because of the non-identical alleles. These combinations of alleles that an individual
possesses at a certain locus, which can be homozygous or heterozygous, refer to its
genotype. The actual manifestation of a genotype into observable traits is called the
phenotype. You usually describe your classmates by enumerating their phenotypes. In the
given figure above, if the actual phenotype of the plant is a round seed, then the allele
for round seed is said to be the dominant allele. The other allele in which the expression is
masked (i.e., wrinkled allele) is called the recessive allele. Table 1.1.2 summarizes this
discussion of genetic terminologies.
1.1. Mendelian Laws of Inheritance 10
Unit 1: Laws of Inheritance
Table 1.1.2. Discussion summary for review of genetic terminologies
Elements Descriptions
In the pea plant hybridization of Gregor Mendel, seven characteristics were used, and
each of these characteristics exists in two alternative forms. These heritable traits include
plant height, flower color, the position of flower or inflorescence, the color of seeds, the
shape or texture of seeds, the color of pods, and the shape of pods. The alternative forms
for each are shown in Fig. 1.1.7.
1.1. Mendelian Laws of Inheritance 11
Unit 1: Laws of Inheritance
Fig. 1.1.7. Seven characteristics were used by Mendel to establish his laws of inheritance.
Law of Segregation
Mendel’s Monohybrid Cross
The core of the study of Mendel is the determination of the pattern in which the
characteristics mentioned above are inherited. The basic cross he performed was the
monohybrid cross. In this cross, only one characteristic is involved. However, the
parents should have different or contrasting phenotypes. For example, in Fig. 1.1.8, a
cross between tall and dwarf pea plants was made.
Note that in the monohybrid cross in Fig. 1.1.8., the initial individuals that are mated
comprise the P generation or the parental generation. Particularly, the P generation
consists of tall and dwarf parents. Note that P generations in all of Mendel’s crosses consist
of true-breeding or homozygous individuals. These parents, when cross-pollinated, will
give rise to the F1 generation or first filial generation, the offspring of P generation. In the
cross in Fig. 1.1.8., the F1 generation consists of only tall peas. Further, if F1 generation is
mated among each other, the F2 generation or second filial generation is obtained. In
other words, the offspring of the F1 generation is the F2 generation. In the above cross, 3/4
or 75% of the F2 are tall, while 1/4 or 25% are dwarf. Note that Mendel observed the same
ratio for the other six characteristics.
1.1. Mendelian Laws of Inheritance 12
Unit 1: Laws of Inheritance
Fig. 1.1.8. A monohybrid cross involving the height of pea plants will produce all tall
offspring in the F1 generation and 3/4 tall and 1/4 dwarf in the F2 generation.
1.1. Mendelian Laws of Inheritance 13
Unit 1: Laws of Inheritance
Interpretations of the Monohybrid Cross
Two major observations can be made from the monohybrid cross of Mendel. First, the F1
consists of only one phenotype, which is tall. Second, the dwarf phenotype reappeared
in the F2 generation. This implies that the tall trait is dominant over the recessive
dwarf trait. This is best explained by the Principle of Dominance. This states that when an
individual is heterozygous, the dominant allele tends to mask the expression of the recessive
allele. For you to understand better, let us establish notations to our monohybrid cross. Let
gene T code for height in the pea plant. This gene exists in two forms: the dominant T allele
for tall trait and recessive t allele for the dwarf trait. In the P generation, a TT (tall) parent is
crossed with a tt (dwarf) parent. In Table 1.1.3. below, note that the recessive allele is
masked in the heterozygous individuals in both F1 and F2 generations. Also, this explains
that the recessive phenotype is always true-breeding, whereas an individual with the
dominant phenotype may either be homozygous or heterozygous.
Phenotypes Genotypes
1.1. Mendelian Laws of Inheritance 14
Unit 1: Laws of Inheritance
Likewise, both phenotypes are also seen in F2 at a ratio of 3:1.
Fig. 1.1.9. The law of segregation explains why the monohybrid cross will have a
characteristic phenotypic ratio of 3:1 in the F2 generation.
Using Punnett Squares
To apply your knowledge of the principle of dominance and law of segregation in analyzing
other crosses, we can use the Punnett Square. This method, which was devised by
Reginald Punnett, is a basic technique that can be used to represent the segregation of
gametes in the parents and the fertilization to produce the possible offspring. By
1.1. Mendelian Laws of Inheritance 15
Unit 1: Laws of Inheritance
using the example earlier, Table 1.1.4. shows separate Punnett squares for P (tall × dwarf)
and F1 generations (tall × tall). Note that the first rows and columns below the parent
genotypes represent the segregated gametes (sperm and eggs). Combining them will
give rise to the possible genotypes of the offspring. The steps are summarized as follows.
1. Write down the genotypes of both parents for each cross.
a. P generation: TT, tt
b. F1 generation: both Tt
2. Write down the possible gametes for each genotype. Then, draw an empty version of
the boxes below where you can write the gametes and offspring.
a. TT: only T
b. tt: only t
c. Tt: T or t
Genotypic Ratio: 100% or all Tt Genotypic Ratio: 1/4 TT: 2/4 Tt: 1/4 tt
Phenotypic Ratio: 100% or all tall Phenotypic Ratio: 3/4 tall: 1/4 dwarf
1.1. Mendelian Laws of Inheritance 16
Unit 1: Laws of Inheritance
Law of Independent Assortment
Mendel’s Dihybrid Cross
Fig. 1.1.10. The dihybrid cross of Mendel, similar to the monohybrid cross, will yield one
phenotype in the F1 generation. However, the F2 generation consists of four phenotypes,
which occur in 9:3:3:1 ratio. Particularly, these phenotypes are 9/16 round, yellow: 3/16
round, green: 3/16 wrinkled, yellow: 1/16 wrinkled, green.
1.1. Mendelian Laws of Inheritance 17
Unit 1: Laws of Inheritance
In Mendel’s dihybrid cross, the same pattern applies as in the monohybrid cross. However,
this time, two characteristics or two pairs of contrasting traits are involved. For
example, a dihybrid cross may involve seed shape and seed color (as in Fig. 1.1.10). His
monohybrid crosses already revealed that round is dominant over wrinkled, while yellow
seeds are dominant over green ones. We can let gene R represent seed shape and gene Y
for seed color. To start the dihybrid cross (as shown in Fig. 1.1.10), the P generation must
have round and yellow seeds (RRYY) and wrinkled and green seeds (rryy). This cross will
yield that characteristic F2 phenotypic ratio of 9:3:3:1.
Interpretations of the Dihybrid Cross
The F2 generation of the dihybrid cross of Mendel has a characteristic phenotypic ratio of
9:3:3:1. This result is best explained by Mendel’s Law of Independent Assortment.
According to this law, the alleles from different genes are sorted into the gametes independently
of each other. This also implies that genes are inherited independently of each other. For
example, in the given cross above, the result of the dihybrid cross means that seed color
and seed shape are inherited independently. The inheritance of one gene does not
influence that of the other. To better understand this, see Table 1.1.5.
1.1. Mendelian Laws of Inheritance 18
Unit 1: Laws of Inheritance
Phenotypic Ratio: F2 generation results
100% or all round, yellow Genotypic Ratio:
1/16 RRYY 2/16 RrYY 1/16 rrYY
What are the allele combinations of 2/16 RRYy 4/16 RrYy 2/16 rrYy
F1?
1/16 RRyy 2/16 Rryy 1/16 rryy
Phenotypic Ratio:
1.1. Mendelian Laws of Inheritance 19
Unit 1: Laws of Inheritance
Fig. 1.1.11. Both of Mendel’s laws of inheritance operate during the first anaphase of
meiotic division during gamete or sex cell formation.
1.1. Mendelian Laws of Inheritance 20
Unit 1: Laws of Inheritance
Albinism is characterized by the total lack of pigmentation of eyes, skin,
and hair. Eyes appear red because the light is reflected from the blood
vessels in the eyeball.
Let’s Practice!
Example 1
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 gametes produced by each of these two plants with respect to
the indicated characteristics?
1.1. Mendelian Laws of Inheritance 21
Unit 1: Laws of Inheritance
Solution
Step 1: You are asked to provide the types of gametes produced by the plants.
Step 2: Write the given in the problem.
Plant 1 has a genotype of Mm.
Plant 2 has a genotype of AaBB
Step 3: Identify the alleles produced by plants 1 and 2.
Plant 1: Mm Gametes M and m.
Plant 2: AaBB Gametes AB and aB.
Plant 1 (Mm) produces gametes with alleles M and m, while Plant 2 (AaBB) produces
gametes with allele combinations AB and aB.
1 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?
Example 2
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?
Solution
Step 1: You are asked to provide the genotypic and phenotypic ratios of the cross.
Step 2: The traits and the phenotypes of the parents are given.
The axial inflorescence is dominant over the terminal one in peas.
Then, we can assign alleles.
A : axial inflorescence
1.1. Mendelian Laws of Inheritance 22
Unit 1: Laws of Inheritance
a : terminal inflorescence
Parent 1 is heterozygous, while parent 2 has terminal flowers.
Then, we can assign genotypes.
Aa : Parent 1
aa : Parent 2
Step 3: Draw a Punnett square and place the gametes of the parents.
A a
a
a
Step 4: Combine the gametes to form the genotypes of offspring.
You may also directly write the phenotypes.
A a
Aa aa
a
(axial) (terminal)
Aa aa
a
(axial) (terminal)
The genotypic ratio of the cross is 1/2 AA: 1/2 aa. The phenotypic ratio is 1/2 axial: 1/2
terminal.
2 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.
1.1. Mendelian Laws of Inheritance 23
Unit 1: Laws of Inheritance
Example 3
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?
Solution
Step 1: You are asked to provide the genotypic and phenotypic ratios of the cross.
Step 2: The dominance of the traits, as well as the traits of the parents, is given.
Having round seeds is dominant over having wrinkled seeds. Also,
being tall is dominant over being a dwarf. We can assign the following.
A : round B : tall
a : wrinkled b : dwarf
Then, both parents are AaBB. The cross is AaBB × AaBB.
Step 3: Determine the allele combinations of the parents.
Both parents have the same genotypes. They produce two gametes.
Gamete 1: AB Gamete 2: aB
Step 4: Draw a Punnett square and place the gametes of the parents.
AB aB
AB
aB
Step 5: Combine the allele combinations to form the genotypes of offspring.
You may also directly write the phenotypes.
AB aB
AABB AaBB
AB
(round, tall) (round, tall)
AaBB aaBB
aB
(round, tall) (wrinkled, tall)
1.1. Mendelian Laws of Inheritance 24
Unit 1: Laws of Inheritance
The genotypic ratio of the offspring of the cross is 1/4 AABB: 2/4 AaBB: 1/4 aaBB. The
phenotypic ratio is 3/4 round tall: 1/4 wrinkled tall.
3 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?
Key Points
________________________________________________________________________________________________
● 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.
● 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.
● 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.
● 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.
● 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.
1.1. Mendelian Laws of Inheritance 25
Unit 1: Laws of Inheritance
Transmission genetics serves as the pioneer field in genetics.
________________________________________________________________________________________________
Challenge Yourself
1.1. Mendelian Laws of Inheritance 27
Unit 1: Laws of Inheritance
Photo Credits
The Coral Reef at the Andaman Islands by Ritiks is licensed under CC BY-SA 3.0 via
Wikimedia Commons.
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.
Starr 081009-0043 Pisum sativum var. Macrocarpum by Forest & Kim Starr is licensed under
CC BY 3.0 via Wikimedia Commons.
Pisum sativum flowers J1 by Jamain is licensed under CC BY-SA 3.0 via Wikimedia Commons.
João Pedro - Albino Baby by Felipe Fernandes is licensed under CC BY-SA 2.0 via Flickr.
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.
1.1. Mendelian Laws of Inheritance 28
Unit 1: Laws of Inheritance
BB BB
B
(violet) (violet)
Bb Bb
b
(violet) (violet)
3. Given the allelic assignments, the genotypic ratio is 1/4 AABB: 1/4 AABb: 1/4 AaBB:
1/4 AaBb. The phenotypic ratio is 100% or all yellow seeded with smooth pods.
AaBB × AABb
AB aB
AABB AaBB
AB (yellow, (yellow,
smooth) smooth)
AABb AaBb
Ab (yellow, (yellow,
smooth) smooth)
1.1. Mendelian Laws of Inheritance 29
Unit 1: Laws of Inheritance
Lesson 1.4
Introduction 1
Learning Objectives 2
Warm Up 2
Bibliography 24
Unit 1: Laws of Inheritance
Lesson 1.4
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
Unit 1: Laws of Inheritance
Warm Up
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.
1.4. Sex Linkage and Recombination 2
Unit 1: Laws of Inheritance
1.4. Sex Linkage and Recombination 3
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 4
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 5
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 6
Unit 1: Laws of Inheritance
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.
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.
1.4. Sex Linkage and Recombination 7
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 8
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 9
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 10
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 11
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 12
Unit 1: Laws of Inheritance
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
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.
1.4. Sex Linkage and Recombination 13
Unit 1: Laws of Inheritance
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
1.4. Sex Linkage and Recombination 14
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 15
Unit 1: Laws of Inheritance
Marie
XC XC
X XCX XCX
John
Y XCY XCY
Step 3: Interpret the results.
XCX = carrier female
X Y
C
= 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?
1.4. Sex Linkage and Recombination 16
Unit 1: Laws of Inheritance
Solution
Step 1: Identify the genotypes of the father and the young girl.
The young girl is color-blind. → XCXC
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
1.4. Sex Linkage and Recombination 17
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 18
Unit 1: Laws of Inheritance
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
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.
1.4. Sex Linkage and Recombination 19
Unit 1: Laws of Inheritance
Table 1.4.3. Genotypes and corresponding phenotypes differ between sexes in lactation.
Female Male
Key Points
_____________________________________________________________________________________
1.4. Sex Linkage and Recombination 20
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 21
Unit 1: Laws of Inheritance
B. Compute for the probability of the indicated offspring given the parental
genotypes or phenotypes.
Challenge Yourself
1.4. Sex Linkage and Recombination 22
Unit 1: Laws of Inheritance
a. Color blindness trait of Kath and Daniel
b. Lactation trait of Liza and James
c. Baldness trait of Enrique and Nadine
1.4. Sex Linkage and Recombination 23
Unit 1: Laws of Inheritance
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.
1.4. Sex Linkage and Recombination 24
Unit 1: Laws of Inheritance
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
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
1.4. Sex Linkage and Recombination 25
Unit 1: Laws of Inheritance
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 (XHY).
Mother
XH X
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.
1.4. Sex Linkage and Recombination 26