Activity/ Learning Exercise 2.
• 1. What is Mendel’s main contribution to genetics?
• 2. Why did Mendel choose garden peas as his subject for his experiments?
• 3. Distinguish between dominant and recessive traits.
Name: Date Submitted:
Year & Section:
Activity/ Learning Exercise 2.2:
• 1. What are the three hereditary principles developed by Mendel.
• 2. What are genes? What roles do they play in heredity?
• 3. What does the law of dominance say about heredity?
Activity/ Learning Exercises 2.3
1. Define an allele and give an example
2. Distinguish between homozygous and heterozygous traits
3. Distinguish between phenotype and genotype.
Activity/ Learning Exercises 2.4
1. What is monohybrid cross? A dihybrid cross?
2. What is the significance of Mendelian crosses on the study of genetics?
3. What is the use of the Punnet square?
4. How does the rule of probability apply to the production of traits in mono- and di-hybrid
crosses?
Module 2 : Mendelian Inheritance
Learning Outcomes:
We begin the study of genetics by examining the patterns and principles of
inheritance as discovered by Gregor Mendel. At the end of this module, you should
be able to:
1. Define and explain the science of genetics and give its significance,
2. Describe the experiments of Gregor Mendel and explain the Mendelian
pattern of inheritance
3. Show the possible combinations of genes from a cross between two
organisms and establish the occurrence of variations
4. Analyse and determine the possible gametes, genotypes and phenotypes
of mono- and di-hybrid crosses
Introduction
Modern genetics had its beginnings in an abbey garden, where an Austrian
monk named Gregor Mendel documented a particulate mechanism of inheritance
with his garden peas. He developed his theory of inheritance several decades
before the behaviour of chromosomes was observed in the microscope. So in this
module, we will recount how Mendel arrived at his theory. We will also see how the
Mendelian model applies to the inheritance of human variations.
2.1 Gregor Mendel and the Science of Genetics
Genetics is the science that deals with heredity and the factors affecting the
transmission of characteristics from one generation to another. It attempts to
describe similarities and differences (variation) among organisms. It also explains
the characteristics that are transmitted from one parent generation to the next
generation of offspring.
Little was known about heredity until 1900. That year the research of Gregor
Mendel, an Austrian monk, was rediscovered. Mendel had done research on
heredity with garden peas from 1856 to 1868. The results of his research were
published in 1866. At first, Mendel’s work was not understood but later his research
formed the foundation of a new discipline of science called genetics. Mendel was
then considered as the Father of Genetics.
Mendel’s Experiment
Mendel chose to work with garden peas because they were available in many
varieties. For example, one variety has purple flowers, while another variety has
white flowers. Geneticists use the term character for a heritable feature, such as
flower color, that varies among individuals. Each variant for a character, such as
purple or white color for flowers, is called a trait.
The use of peas also gave Mendel strict control over which plants mated with
which. The sex organs of a pea plant are in its flowers, and each pea flower has
both male and female organs – stamens and carpel, respectively. In nature, the
plants usually self-fertilize. Pollen grains released from the stamens land on the
carpel of the same flower, and sperm from the pollen fertilize the ova in the carpel.
To achieve cross pollination (fertilization between different plants), Mendel removed
the immature stamens of a plant and dusted pollen from another plant onto the
emasculated flowers. Each resulting zygote then developed into a plant embryo
encased in a seed (pea). This way Mendel could always be sure of the parentage of
new seeds.
Activity/ Learning Exercise 2.1
• 1. What is Mendel’s main contribution to genetics?
• 2. Why did Mendel choose garden peas as his subject for his
experiments?
• 3. Distinguish between dominant and recessive traits.
2.2 Mendel’s Principles
From the results, Mendel developed the following principles: (1) the rule of
unit character, (2) the law of dominance, and (3) the law of segregation and
independent assortment
Rule of Unit Character
• In every case, he found that one trait of a pair seemed to disappear in the F1
generation, only to reappear unchanged in one-fourth of the F2 plants.
• Mendel concluded that each organism has two factors that control each of its
traits.
• We now know that these factors are genes and that they are located on
chromosomes.
• Genes exist in alternative forms. We call these different gene forms as
alleles.
• An organism’s two alleles are located on different copies of a chromosome—
one inherited from the female parent and one from the male parent.
Law of Dominance
• Mendel called the observed trait dominant and the trait that disappeared
recessive.
• Mendel concluded that the allele for tall plants is dominant to the allele for
short plants.
• According to the Law of Dominance, one factor in a pair may mask the
expression of the other factor.
The Law of Segregation and Independent Assortment
• The law of segregation states that every individual has two alleles of each
gene and when gametes are produced, each gamete receives one of these
alleles.
Mendel hypothesized that allele pairs separate randomly, or segregate, from
each other during the production of gametes: egg and sperm. Because allele
pairs separate during gamete production, a sperm or egg carries only one
allele for each inherited trait. This is called the Law of Segregation.
• When sperm and egg unite at fertilization, each contributes its allele, restoring
the paired condition in the offspring. These gametes randomly pair to produce
four combinations of alleles.
• Mendel also found that each pair of alleles are inherited independently of the
other pairs of alleles during gamete formation. Example: seed shape and
seed color. This is known as the Law of Independent Assortment.
Of the 46 chromosomes in a normal diploid human cell, half are maternally
derived (from the mother's egg) and half are paternally derived (from the
father's sperm). During gametogenesis—the production of new gametes by
an adult—the normal complement of 46 chromosomes needs to be halved to
23. In independent assortment, the chromosomes that result are randomly
sorted from all possible combinations of maternal and paternal chromosomes.
Because gametes end up with a random mix instead of a pre-defined "set"
from either parent, gametes are therefore considered assorted independently.
As such, the gamete can end up with any combination of paternal or maternal
chromosomes. Any of the possible combinations of gametes formed from
maternal and paternal chromosomes will occur with equal frequency. For
human gametes, with 23 pairs of chromosomes, the number of possibilities is
223 or 8,388,608 possible combinations. The gametes will normally end up
with 23 chromosomes, but the origin of any particular one will be randomly
selected from paternal or maternal chromosomes. This contributes to the
genetic variability of progeny.
Activity/ Learning Exercise 2.2:
• 1. What are the three hereditary principles developed by Mendel.
• 2. What are genes? What roles do they play in heredity?
• 3. What does the law of dominance say about heredity?
2.3 Fundamentals of Genetics
Alleles
Different copies or forms of genes controlling a certain trait are called alleles,
In pea plants, the gene controlling height exists as either an allele for tallness (T) or
an allele for shortness (t).
If the alleles for a certain trait in an organism are the same, the organism is
said to be homozygous for that trait. For example a pea plant that is homozygous
for tallness would have two copies of the gene for tallness (TT) both dominant or two
copies of the gene for shortness (tt) both recessive.
If the alleles for the same trait are different, the organism is said to be
heterozygous, or hybrid for that trait. A pea plant that is heterozygous for tallness
has one gene for tallness and another gene for shortness (Tt).
• Allele- alternate version of a gene
• Dominate allele – expressed in the heterozygote
• Recessive allele – not expressed in the heterozygote
• Homozygote – pair of identical alleles for a character
– Homozygous dominant- BB
– Homozygous recessive - bb
• Heterozygote – two different alleles for a character (Bb)
Genotypes and Phenotypes
The genotype of an individual is made up of the many alleles it possesses.
An individual's physical appearance, or phenotype, is determined by its alleles as
well as by its environment. The presence of an allele does not mean that the trait will
be expressed in the individual that possesses it.
• Genotype – genetic makeup
Example: pure tall (homozygous) TT or hybrid tall (Tt), purebred short (tt)
• Phenotype – appearance of an organism
Example: Tall and short
Activity/ Learning Exercises 2.3
1. Define an allele and give an example
2. Distinguish between homozygous and heterozygous traits
3. Distinguish between phenotype and genotype.
2.4 Applying Mendelian Principles
Monohybrid Crosses (One-factor Cross) and the Punnet Square
Let us look at the first cross used by Mendel in his experiment with garden
peas. A pure tall plant has two alleles for tallness, represented by the symbol TT.
When the pure tall plant produces gametes, each gamete will have an allele for
tallness T. A pure short pea plant has two alleles for shortness, represented by the
symbol tt. Each of its gametes will have an allele for shortness t. Mendel made a
monohybrid cross, a cross of one trait, in this case height of the garden pea plant.
The Punnet square is an easy way to determine the possible combination of genes
in a cross; it is a special grid consisting of boxes and is very useful in analysing the
results of an experimental cross.
Parental generation TT x tt
Gametes T T t t
First Filial (F1) Generation
Male gametes
t t
Female gametes
T Tt Tt
T Tt Tt
F1 genotype all heterozygous tall (Tt)
F1 phenotype all tall
Second Filial (F2) Generation
Male gametes
t T t
Female gametes
T TT Tt
t Tt tt
F2 genotypic ratio 1 homozygous tall (TT) : 2 heterozygous tall (Tt) : 1
homozygous short (tt)
F2 phenotypic ratio 3 tall : 1 short
Let us take another monohybrid cross between Pure Purple flowered pea and pure
white flowered pea plant
Parental generation PP x pp
Gametes P P p p
First Filial (F1) Generation
Male gametes
p p
Female gametes
P Pp Pp
P Pp Pp
F1 genotype all heterozygous purple flowered (Pp)
F1 phenotype: all purple flowered
Second Filial (F2) Generation
Male gametes
P p
Female gametes
P PP Pp
p Pp pp
F2 genotypic ratio 1 homozygous purple (PP) : 2 heterozygous purple (Pp) : 1
homozygous white (pp)
F2 phenotypic ratio 3 purple : 1 white
Dihybrid Crosses (Two-factor Cross) and Independent Assortment
Now let us take the two separate monohybrid crosses together to make a two
factor cross: A pure tall purple flowered pea crossed to a pure short white flowered
pea plant
Parental generation TTPP x ttpp
Gametes TP tp
First Filial (F1) Generation TtPp
Genotype all heterozygous tall purple flowered
Gametes formed when the pair of alleles for height and flower color segregate
independently and the alleles assort independently during gametogenesis:
P p
T TP Tp
t tP tp
Second Filial (F2) Generation
TP Tp tP tp
TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
F2 phenotypic ratio 9:3:3:1
9 – tall and purple flowered
3 – tall and white flowered
3 – short and purple flowered
1 – short and white flowered
The Test Cross
Suppose we have a purple flowered pea plant. We cannot tell from the color
of the flower if it is homozygous or heterozygous because the PP and Pp result in
the same phenotype. But crossing the purple flowered pea plant with the
homozygous recessive white flowered (pp) will reveal the genotype of the purple
flowered plant. If all the offspring of the cross have purple flowers, then the ther
parent must be homozygous for the dominant allele; a PP x pp cross produces
nothing but Pp offspring. But if both the purple and the white phenotypes appear
among the offspring, then the purple flowered plant must be heterozygous. The
offspring of a Pp x pp cross will have a 1:1 phenotypic ratio. This breeding of a
recessive homozygote with an organism with dominant phenotype but unknown
genotype is called a test cross.
Rules of Probability in Mendelian Inheritance
Two basic laws of probability that can help us in games of chance and in
solving genetic problems are the rule o multiplication and the rule of addition.
The Rule of Multiplication.
An F1 monohybrid cross is analogous to a game of chance. With flower color
as the heritable character, the genotype of the F1 plant Pp. What is the probability
that a particular F2 plant will have white flowers? For this to happen, both the ovum
and the sperm must carry the p allele so we invoke the rule of multiplication. The
probability that an ovum will have the p allele is ½. The chance that a perm will have
the p allele is ½. Thus the ptobability that the two llele will come together at
fertilization is ½ x ½ = ¼.
We can also apply the rule of multiplication to dihybrid crosses. For a parent
with genotype TtPp, the probability that a gamete will carry the T and P alleles is ¼.
We can use the rule of multiplication to determine the probability of specific
genotypes in the F2 generation without having to construct a 16-part Punnet Square.
For example, the probability of an F2 plant having the genotype TTPP is 1/16 ( ¼
chance for a TP ovum x ¼ chance for a TP sperm = 1/16).
The Rule of Addition
What is the probability that an F2 plant from a monohybrid cross will be
heterozygous? There are two ways F1 gametes can combine to produce a
heterozygous result. The dominant allele can come from the ovum and the
recessive allele from the sperm or vice versa. By the rule of addition, the probability
of an event that can occur in two or more different ways is the sum of the separate
probabilities of those ways. Using this rule, we can calculate the probability of F2
heterozygote as ¼ + ¼ = ½.
Activity/ Learning Exercises 2.4
1. What is monohybrid cross? A dihybrid cross?
2. What is the significance of Mendelian crosses on the study of genetics?
3. What is the use of the Punnet square?
4. How does the rule of probability apply to the production of traits in mono-
and di-hybrid crosses?
Feedback
Are you enlightened now why you possess similar traits as your parents or
siblings and at the same time have different traits as well? Do you understand now
how dominant and recessive traits are inherited? Do you now see the importance of
hybridization in crops and animals? And can you now predict the outcome of mono-
and di-hybrid crosses using the rule of probability?
Summary
Genetics is the science that deals with the study of heredity and the factors
affecting the transmission of characteristics or traits from one generation to another.
Gregor Mendel considered as the father of Genetics for he was the first to study
methodically the inheritance of traits on garden pea plants. His experiments led to
what we now know as Mendel’s principles of heredity.
Mendel’s rule of unit character states that organism has two factors that
control each of its traits. We now know that these factors are genes and that they
are located on chromosomes. Genes exist in alternative forms. We call these
different gene forms as alleles.
The principle of dominance states that one trait manifests itself while another
trait is hidden. These traits are known as dominant and recessive traits,
respectively.
The Law of segregation states that a pair of genes is segregated or separated
during the formation of sex cells or gametes.
The law of independent assortment states that the separation of gene pairs in
a given pair of chromosomes and the distribution of the genes to gametes during
meiosis are entirely independent of the distribution of other gene pairs in other pairs
of chromosomes.
Punnet square is used to determine the probable outcome of experiments in
mono- and di-hybrid crosses. It shows the possible male and female gametes, the
genotypes (genetic make-up) and phenotypes (observable effects of genes) of the
offspring. In such crosses, the law of probability is applied. Probability is the
likelihood that a particular event will occur.
Suggested Readings
Please refer to the list of e-references and books for your additional readings.
Post ModuleTest
To determine your level of knowledge on the topics of this module, please
choose the correct answers to the following questions:
1. If Y stands for yellow and y for green, then Yy for pea plant is its
a. Genotype b. gamete c. phenotype
2. If R stands for round seed and r for wrinkled seed, the pure round seed
pea plant will have R as its
a. Genotype b. gamete c. phenotype
3. If T stands for tall and t for short, the pure tall pea plant has genotype that
is
a. Homozygous tall b. heterozygous tall c. tt
4. A pea plant with round yellow seeds has the genotype
a. RrYy b. RRyy c. rrYY d. rryy
5. Ttrr has the phenotype
a. Short with round seed c. Tall with wrinkled seed
b. Short with wrinkled seed d. Tall with round seed
6. The RRyy plant will have Ry as its
a. Genotype b. gamete c. phenotype
7. The phenotypic ratio from a cross between two pigs that are pure black
and pure white is
a. 2:2 b. 3:1 c. 4:0 d. 9:3:3:1
8. If the dihybrid round yellow seed pea plant RrYy undergo self-pollination,
the phenotypic ratio of the offspring is
a. 1:1 b. 3:1 c. 4:0 d. 9:3:3:1
Show the two factor cross using a punnet square.
9. Attached earlobe is a recessive trait in humans. Parents with free earlobes
produced a child with attached earlobe. The parents therefore are
a. both homozygous free-earlobe b. both heterozygous free-
earlobe
Show the parental genotypes, gametes of parents, the cross and
the genotype of the child with attached earlobe.
10. Having dimples is a dominant trait. If both husband and wife are
heterozygous for dimples, what are the chances that their children will
have dimples?
a. 100% b. 75% c. 50% d.25% .
Show the parental genotypes, gametes of parents, the cross using
a punnet square and the possible genotypes of the children and
percentage of probability.
Additional Activities (Laboratory)
Create Your Family Tree showing inheritance of biological traits (widow’s
peak, kinky hair, diabetis, albinism, dwarfism etc). Choose just one trait.
Trace the inheritance of that trait from your grand-parents, to their children
that includes your parents, and to your generation (you, your siblings and
cousins). Based on the pattern of inheritance of that specific trait or
phenotype, try to identify the possible genotypes of the members in the
family tree you constructed.
References/Sources
e-references:
[Link]/Life%20Science/Genetics/[Link]
[Link]/...ppts/Mendelian-Genetics-Heredity-
Biolog...
[Link]/soapstarmom/geneticsmendel-powerpoint-5396283
Books:
Brooker, R.J. 2012. Genetics Analysis and Principles. 5 th edition, McGraw-Hill
International Edition
Burns, O.W. 2014. The Science of Genetics: An Introduction to Heredity. 7 th edition.
McMillan Publishing Co., Inc., New York
Campbell, N. and J. Reese. 2012. Biology. 12th ed.
Laude, R.P. 2011. Genetics Laboratory Guide. 11th edition, College of Agriculture,
UPLB, Los Banos.
Ramirez, D.A. 1991. Genetics. 7th edition. Institute of Plant Breeding. College of
Agriculture. UPLB, Los Banos.
Prepared by:
MARIA ROWENA O. PUNSALAN
Prof 1, CAFNR