Principles of Genetics in plant science (Plsc212)

Academic year:2025
 Objectives
• At the end of the chapter you should able to:
1. Understand the basic concepts of genetics,
2. History of genetics
3. Knowing branches of genetics
4. Relationships of genetics to other aspects of
biological science
5. Know and apply significance of genetics in the
biological science and technology,
CHAPTER 1: INTRODUCTION

1.1. Genetics ???

 Genetics is one of the most fascinating areas of
biology.
 It has effects at all scales from the molecule to
population.
 Its study involves a wide variety of tools, from
biochemical tests to microscopy to breeding
experiments.
 The name ‘genetics’ was proposed in 1906 by
William Bateson (1861-1926)
 Cont...
1.2. Basic Genetic Concepts & Terms
 What is Genetics ???
 It is a branch of biological science which studies
heredity and the variation of inherited traits among
similar or related organisms.
 It studies similarities and differences between
parents and their offsprings and between offsprings
of the same parents.
 It studies heredity in general & genes in particular.
 Study of genes &studies what genes are and how
they work
Word Match Activity
Match the genetic terms to their corresponding parts of
the illustration. nucleus chromosome

cell

base pair
(double
helix)
DNA

genes
 Cont…
 Concepts and Terminology of Genetics
1. Heredity- is the transmission of characteristics
from parents to offspring.
• Heredity describes how traits are passed from
parents to their offsprings.
• Offspring resemble their parents more than they
resemble unrelated individuals.
 Principles of Heredity
• Traits are controlled by alleles on chromosomes.
• An alleles effect is dominant or recessive, e.g.
tallness and dwarfness.
2. Inheritance:
• The mechanism of transmission of genetic
information from parents and ancestors to offspring.
1. The inherited traits are determined by genes that
are passed from parents to offspring.
2. An offspring inherits two sets of genes—one from
each parent.
3. A trait may not be observable, but its gene can be
passed to the next generation.
3. Cell: is the basic structural, functional and
biological unit of living things.
4. Nucleus: Double membrane structure contains
DNA in the form of chromosome
5. Chromosome
 Thread like structure of nucleic acid (DNA) molecule
together with other molecules (proteins and RNA)
Found in the nucleus of living cells to support and
read the DNA.
Carring genetic information in the form of genes
6. DNA:universal hereditary/genetic material of living
organisms
7. Genes refers to small sections of DNA that controls
a certain trait.
• Genes are found on chromosomes synthesis protien
• Codes for a single polypeptide-is a linear chain of
amino acids
• Hold genetic information to build and maintain their
cells and pass genetic traits from generation to
generation.
• The molecules that control the function, development
and ultimate appearance of individuals.
• The traits are expressed by genes and gene
expression is the process of converting information
from gene to cellular product.
8. Allele refers to a specific variationof agene or
alternative/different forms of a gene.
e.g Eye (blue vs Green), Blood type (A, B), Skin color
(black vs white)
9. Variation- is the differences in characteristics
observed among individuals of the same
natural population or species.
• E.g. Height, color, fatness
Or Variation is differences among individuals in a
population in terms of:
 Morphology,
 Physiology, and
1.3. History of Genetics/Evolution of Science of Genetics

Before 1850
The most notable discoveries for current
understanding of genetics were the development of:
 Light microscopy, and
 The clarification of the cell theory
 1665- Robert Hooke coined the term cell
 1674-1683, Anton van Leeuwenhoek discovered
living organisms (protozoa and bacteria) in
rainwater.
 He was a master lens maker and produced
magnifications of several hundred power from
 History of Genetics…
1850-1900 discoveries
 For this period five major events led directly to the
development of modern genetics
 1858- Rudolf Virchow summed up the concept of
the cell theory: all cells come from pre-existing
cells.
 1859- Charles Darwin publishes the ‘origion of
species’ which describes the ‘theory of evolution’
by natural selection.
 1866-Gregor Mendel’s experimenting on pea
plants hyberdyzation, leads basic theory of
genetics
 History of Genetics…
1900-1944
 Foundations of modern genetics grown with the
development of the chromosomal theory.
 1900- rediscovery of Mendel’s work by 3 Eropian
biologists, i.e Hugo de Vries, Carl Correns, and
Erich von Tschermak
 They worked independently on different plant
hybrids, and came to the same conclusions about
inheritance as Mendil’s.
 1902- Walter Sutton and Boveri postulated the
chromosomal theory which describes that
chromosome carry the cell’s genetic material
 History of Genetics…
1944-Present
The period is the era of molecular genetics
 Beginning with the demonstration that DNA is the
genetic material
 Leads to culminating with our current explosion of
knowledge due to recombinant DNA technology
 1944:Osward Avery, Macleod and McCarty
 They showed that DNA (not proteins)can transform
the properties of cells, clarifying the chemical
nature of genes.
 1953-James Watson and Francis Crick
• They proposed the
three dimentional and
double helix model of
DNA structure.

 In the same year the process of DNA replication

was discovered
 So it leads directly to knowledge of how it replicates
 Such discovery leads the formation of basis of other
of
on
concept
Introducti
of
Discovers that genes
are responsible for
inheritance
1.3. Branches of Genetics

1. Classical genetics
• Deals with the study of physical basis of heredity
(Cytogenetics)
• Focuses on the transmission of genes from generatio
n to generation.
• Governed by mendel’s laws or Mendlian Genetics
 1.3. Branches of Genetics...
2. Molecular genetics
• It focuses on the the structure and functions of genes
at a molecular level (Avery, Watson and Crick).
 Deals with the study of chemical basis of heredity
 Deals with the structure, replication, expression of
the macro molecules
 e,g. protiens and nuclic acids essential to life.
 Newest scope of genetics: Genomics - study of genes
Proteomics - study of
protiens
3. Population genetics:
 It focuses on heredity in group of individuals for traits
determined by one or only a few genes via time
 Takes Mendilian genetics (i.e, genetics of individual
families) and act it up to look at the genetic makeup
of larger groups.
4. Quantitative genetics
• It focuses on heredity in group of individuals for traits
determined by many genes simultaneously.
• A highly mathimatical field that examines the
stastical relationship between genes and the traits
they encode.
Genetics have three major areas of division
 1.3. Why study genetics?
 Scope/ Application and Role of Genetics
1. Provides foundation
for biological studies:
2. Applied to the
study of all living
Law of inheritance help us systems:
to understand the Viruses
principles of:
• Embryology
bacteria
• Taxonomy Plants
• Population and ecology Animals
• Evolution
 Humans
3. Roles of Genetics in Food Production
i. Generation of improved agricultural plants

 Plant breeding (improvement of crops e.g.

green revolution)
Improvement in disease and insect resistance
Synthesizing of plants with multiple qualities
Improvement in quality and yield
ii. Use of genetics for improvement in animals
Increasing meat and milk yield and quality
Improving egg yield and quality
Artificial insemination
4. Relationship to society
 Genetics for treatment and diseases control in
medicine
Prevention of genetic disease (gene therapy
treatment of hereditary diseases
Different cancer diseases has been treated
Understanding the causes of many illnesses
Health counseling e.g. maintaining normal
5. Genetics has central to human affairs for law
 Betterment of human race – Eugenics
 Immigration- To give or deny a vise e.g. DV
 Forensic Science e.g., crime investigation such as
murder or rape cases
 Paternity disputes- in deciding the father of a
child

6. Conservation of Wildlife
 It can be achieved in one way by conserving the
germplasm of endangered species.
7. Role in Genetic
Enginering/Biotechnology
 Genetic Enginering has many
applications including:
a. Development of transgenic crops
b. Gene therapy
c. Improvement of crop production
d. Control of genetic disease
e. Gene mapping
8. Molecular Genetics
 Focuses on structure and function of
 2.MENDELIAN GENETICS AND ITS
VARIATION
2.1. Mendel’s Experiments and Mode of Inheritance
2.2. Monohybrid Crosses and Mendel‟s Principle of
Segregation
2.3. Dihybrid Crosses and Mendelian Principle of
Independent Assortment
2.4.Statistical Analysis of Genetic Data
2.5. Variation from Mendelian Genetics
2.5.1.Lethal alleles
2.5.2.Multiple alleles
2.5.3.Variation in dominance
2.5.4.Gene interactions and Modified Mendelian
ratio
2. Introduction
 Gregor Mendel (1822-1884) was the founder
& father of genetics.
 Carried out the first scientific studies in
genetics
 Performed his genetic studies by doing
carefully controlled breeding experiments on
hybridization of plants, particularly for garden
pea (Pisumsativum).
 He understood that there were something
that carried traits from one generation to the
next which he called "factors“.
 He discovered the basic rules of
transmission genetics,
 2.1. Mendel’s Experiments and Mode of Inheritance

 What genetic principles account for the transmission

of traits from parents to offspring?
 In the 19th century the accepted leading theory in
biology was "blending theory“ that inherited traits
blend from generation to generation, i.e.
 Before Mendel's experiments, most people believed
that traits in offspring resulted from a blending of
the traits of each parent.
 An alternative to the blending model is the
particulate hypothesis of inheritance: the gene
idea -
 Parents pass on discrete heritable units (today
 The pre-Mendelian period workers:

1. Accepted blending theory

Crossing of red x white

petal snapdragons,
results in a F1 of pink
petals.
2. They were unable to discover the mechanism of
inheritance of characters/traits from parents by
offspring's because of:
a. The cytological basis of the mechanism was unknown
during their period (i.e. the mechanisms of mitosis and
meiosis had not yet been discovered).
His work on pea covered a period of nine years
(1856-1865), i.e.
i. Began his breeding experiments on peas in 1856
ii. Completed all experiments and the analyses was
carried out in 1865
 Mendel’s work was largely ignored for 34 years
 His work was recognized in 1900 after independent
“rediscovery” by three scientists
 Hugo de Vries (Dutch),
 Carl Correns (Austrian), and
 Von Tschermark (Germany)
2.1. Mendel’s Experiments and Mode of Inheritance

 Mendel was one of the first to apply an

experimental approach to the question of
inheritance.
 For seven years Mendel breed pea plants
and recorded inheritance patterns in the
offspring.
 Mendel’s data revealed patterns of
inheritance.
 Mendel made three key decisions in his
experiments.
 Use of purebred plants (true breed)
Why Mendel chose and Experimented with “
Garden pea” ???
• Used pea plants because:
 They are available in many varieties/ Had access to
varieties
 Easy to grow and they reproduced quickly
 The pea traits are distinict & showed clearly
contrasting differences
 It is easy to study/ characters are simply identified
 It is self pollinating crop
 Easy to control mating (self fertilization or cross
pollination)
 It can be grown in a small area
 Grow many generation in short time
 Produce lots of offspring
Mendel studies 7 characterstics in garden
pea
 Mendel’s Demonstration
 Carefully controlled
breeding (hybridization)
experiment ’s i.e.
 (Foreign pollen could be
kept out
 Cross-fertilization could be
accomplished artificially) by
removing male flower parts

Mendel controlled He then

the fertilization of fertilized the
his pea plants by female part, or
removing the pistil, with
 Mendel’s Experimental Design
 In a typical breeding experiment Mendel mated two
contrasting, true breeding varieties a process of
hyberdization.
 True breeding(pure breeding)=parents are
homozygous for every trait and always passes down
a certain phenotypic trait to its offspring.
 All plants
are
heterozyg
ous purple
flowers

 From this simple observation, Mendel proposed his first

principle, i.e,
 Principle of uniformity-states that all the progeny of a
cross like this (where the parents differ by only one trait)
will appear identical.
Mechanism of gene transmission
 Terminology
 The true breeding parents are called the p generation.
 The hybrid offspring of the p generation are called the F1
generation.
 When F1 individuals self pollinate the F2 generation is
produced
 Generations:
 P=parental generation
F1=1st filial generation, progeny of the p generation
F2= 2nd filial generation, progeny of the F1 generation
(F3 & so on)
 Terminology
• Gamete= A mature reproductive cell that is specialized for
sexual fusion
• Cross=A mating between two individuals, leading to the
fusion of gametes and progeny
• Haploid (n)=Cells that have only one set of chromosomes (n).
Each gamete is haploid
• Diploid (2n)= Cells with two copies of each chromosome
• The diploid state attained by the fusion of 2 gametes
 Terminology....
 Genotype: genetic
constitution (or
hereditary makeup) of
an organism e.g AA,
Aa, aa
 Phenotype: the
physical appearance of
the organism in terms
of colour, weight,
height.
 Homozygosity =
situation when ‘both
alleles in an individual
are the same e.g.
• Alleles can be represented using letters.
• Capitalized traits=dominant
phenotypes
• A dominant allele is expressed
as a phenotype when at least
one allele is dominant.
• Dominant alleles are
represented by uppercase
letters
• Lowercase traits= recessive
phenotypes.
• A recessive allele is expressed as
a phenotype only when two
2.2. Crosses
A. Monohybrid Crosses and Mendel‟s Principle of
Segregation
Monohybrid Crosses:
 Cross of two different true breeding strains
(homozygotes) that differ in a single trait

B. Dihybrid Crosses & Mendelian Principle of

Independent Assortment
 Dihybrid Crosses:
 Cross of two different true breeding strains
 MENDEL’S LAWS OF INHERITANCE

1. Law of Dominance: Mendel’s Principle of uniformity in F1:

one allele masks another
2. Mendel’s Law of Segregation: genes become separated
in gamete formation
3. Mendel’s Law of Independent Assortment:
 Members of one gene pair segregate independently from
A. Monohybrid Crosses and Mendel‟s Principle of
Segregation
 It is a genetic cross involving parents differ by
a single pair of genes (one trait).
 It is a mating between individuals who have
different alleles at one genetic locus of
interest.
 For each biological trait, an organism inherits
two alleles, one from each parent, that may be
the same or different.
Mendel’s Law of Segregation:
 During the formation of gametes (eggs or sperm), two
members of a gene pair segregate (separate) from each
other.
 Alleles for a trait are then "recombined" at fertilization,
producing the genotype for the traits of the offspring.
 Recessive characters masked in the F1 progeny of two true
 • Punnett squares illustrate genetic
crosses.
• The Punnett square is a grid system for
predicting all possible genotypes
resulting from a cross.

• The axes represent

the possible gametes
of each parent.
• The boxes show the
possible genotypes
of the offspring.
• The Punnett square yields
the ratio of possible
genotypes and phenotypes.
A. Monohybrid Cross B. F1 Self Fertilization

Parent 1 Parent 2 Parent 1 = Parent 2

X X

YY yy Yy Yy

Gametes: Y Y y y Gametes: Y y Y y

F1 Fertilization: F2 Fertilization:
Parent 1 Parent 1
Y Y Y y

y Yy Yy Y YY Yy
Parent 2 YY & Yy
Parent 2
y Yy Yy Yy y Yy yy

F1 Hybrid Plants: 100% yellow F2 Plants: 75% yellow yy

25% green
2. Dihybrid cross
 It is a cross that involves two pairs of constrasting
alleles (two traits) RR= round, rr= wrinkled,
YY=green, yy= yellow
2. Dihybrid cross
A. The product rule with Punnet square
B. The product rule with tree method (AKA forkline, branching
system)
 Solve dihybrid and multihybrid crosses and particularly advantageous when crossing
homozygous organisms.
 A problem is converted to a series of monohybrid crosses, and the results are combined
in a tree, that produces the same result as a Punnett square in less time.
This method does not calculate the gamete genotypes.
 Mendel’s Principles
 Mendel’s dihybrid crosses showed a 9:3:3:1
phenotypic ratio for the F2 generation.
 Based on these data, he proposed his 2nd Law, i.e
the principle of Independent Assortment.
 Mendel’s Law of Independent Assortment
which states that:
• Alleles for different traits assort independently of one
another.
• Genes on different chromosomes behave
independently in gamet production.
 Mendel’s ratio
 Based on laws of segregation and independent assortment, phenotypic and
genotypic ratios may be predicted:

1. Number of phenotypes = 2n where n is the

number of segragation gene pairs, assuming
complete dominance.
Monohybrid Cross = 2n = 21= 2 phenotypes
Dihybrid cross = 2n = 22 = 4 phenotypes
Trihybrid Cross = 2n = 23 = 8 phenotypes, etc.
2. Number of Genotypes = 3n
Where n is the number of segregating gene pairs.
Monohybrid Cross =3n = 31=3 genotypes such as:
AA, Aa, aa
Dihybrid Cross = 3n = 32 = 9 genotypes
Trihybrid Cross = 3n = 33 = 27 genotypes, etc.
3. Number of gametes = 2n
• The cross of any individual to a homozygous
recessive parent (tester) is said to be test cross.
• Used to determine if the individual is homozygous
dominant or hetrozygous
2.4.Statistical Analysis of Genetic Data
Mendel’s 3:1 monohybrid ratio and 9:3:3:1 dihybrid
ratios are hypothetical predictions based on the
following assumptions.
1. Each allele is dominant or recessive
2. Segregation occurs normally
During the formation of gamete Alleles are segregate
3. Independent assortment occurs, and
During the formation of gamete Alleles are segregate
independently
4. Fertilization is random
• The last three assumptions are influenced by chance
and are subject to random fluctuations
 Uncertainty: implies a situation where the future events are
not known
 It can not be measured
 The outcome is unknown
 Uncontrollable
 The probabilities are not assigned
 Testing Genetic Hypothesis:
1. Null Hypothesis: Stated in a negative manner
2. Alternative Hypothesis: Stated in a positive
manner
 Chi-square
 Standard deviation
 Mean
CHI-SQUARE TEST:

It is statistical method used to determine the

significance of the difference between the
observed and the expected frequency.
• Generally it measures “goodness of fit”
between observed and expected (predicted)
results
• “Goodness of fit” refers to how close the
observed data to those predicted from a
hypothesis.
• The Chi-square test does not prove that a
hypothesis is correct.
• Therefore, the application of chi-square requires
observed and expected frequencies.
• The use of the Chi-Square test for statistical
hypothesis testing is Symbolized by ( )
• Chi-square test is calculated by using the following
formula:

Where: O is observed phenotype

e is expected phenotype
 Further more, this test must also take in to
consideration:
1. The size of the sample
 Character Preference…

If calculated chi-square value exceeds the table value

( at a P value of 0.05) for a given degrees of freedom,
 Example: x2, Hypothesis predicts: 9:3:3:1
Examples, hypothetical data from a test cross of a round –
yellow(RRYY) double heterozygote (RrYy) with a wrinkled –
green (rryy) get
F2 phenotype (E) F2 observed (o) F2 expected (E) O-E (O-E)2 (O-E)2/E

Roud,yellow 315 9/16x556 (315-312.75)2/312.75=

(9/16) = 312.75 0.016
Wrinkled,yellow 101 3/16x556 0.101
(3/16) = 104.24
Round,green 108 3/16x556 0.101
(3/16) = 104.25
Wrinkled,green 32 1/16x556 0.218
(1/16) = 34.75
total 556 556 (O-E)2/E = 0.46

 X2=0.46 and the tabulated value of x2 at n-1 degree of

freedom and 5% probability level is 3.84.
 The calculated value being less than the tabulated value
implies that the observed phenotype is statistically similar to
the expected phenotype.
 Therefore we may accept the data as being in conformity
• Table of Chi-square Probability X2 (Level of Probability)

Df 0.99 0.97 0.02

0.99 0.95 0.9 0.1 0.05 0.01 0.005
5 5 5
1 0.00 0.00 0.00 0.00 0.01 2.70 3.84 5.02 6.63 7.879
0 0 1 4 6 6 1 4 5
2 0.01 0.02 0.05 0.10 0.21 4.60 5.99 7.37 9.21 10.59
0 0 1 3 1 5 1 8 0 7
3 0.07 0.11 0.21 0.35 0.58 6.25 7.81 9.34 11.3 12.83
2 5 6 2 4 1 5 8 45 8
4 0.20 0.29 0.48 0.71 1.06 7.77 9.48 11.1 13.2 14.86
7 7 4 1 4 9 8 43 77 0
5 0.41 0.55 0.83 1.14 1.61 9.23 11.0 12.8 15.0 16.75
2 4 1 5 0 6 70 33 86 0
6 0.67 0.87 1.23 1.63 2.20 10.6 12.5 14.4 16.8 18.54
6 2 7 5 4 45 92 49 12 8
7 0.98 1.23 1.69 2.16 2.83 12.0 14.6 16.0 18.4 20.27
9 9 0 7 3 17 70 13 75 8
• Q. In pea plants, on selfing the F1, that was
obtained from a monohybrid cross between red
and white colour flowers resulted in 145 red and
55 white colour flowers (observed frequency) in
a 3:1 ratio in the F2 generation. Use chi-square to
test the Segregatin
validity of segregating 3:1 ratio.
• Solution:g classes Frequencies
(O-E) (O-E)2 X2=(O-E)2/E
Obser Expect
ved ed
Pea plants (145-
with red 145 3/4 x
200)= (- 25/150=0.1
colour 200
(3) -5 5)2=25 66
flowers =150
Pea plants
1/4 x
with white (55- (5)2
55 (1) 200 25/50=0.50
colour 50)=5 =25
=50
flowers
Total 200 0.666
• 0.666 is the calculated value and that
calculated value will be compared with the
tabulated value (Table given below) at n-1
degree of freedom (2-1=1) and 0.05%
probability.
• As per the below-given table, the calculated
value of 0.666 is less than the tabulated value
of 3.841 at n-1 degree of freedom (2-1=1) and
0.05% probability.
• Therefore our hypothesis is correct/significant
and it is accepted.
• Hence, it is concluded that the 3:1 segregating
ratio obtained in F2 generation from red and
white colour flowers by selfing the F1 is valid.
 Interpretation
• Low chi- square value (good fit) means higher
probability of the hypothesis being correct
 High chi- square value( poor fit), indicates that the
hypothesis is incorrect (statistically significant)
• If calculated chi-square value exceeds the table
value ( at a P value of 0.05) for a given degrees of
freedom, reject your hypothesis
• P=0.05 means, 95% chance the data is not a result
of chance variance from hypothetical expectations