Genetics

Genetics and the Organism

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Heredity and Variation

Introduction to
4

Genetics
Principles of Heredity
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Chromosome Theory of
Inheritance
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 Key Concepts in
Genetics
GENES
DNA

CHROMOSOMES

GENOTYPE PHENOTYPE
 DNA GENES
 THE MOLECULE THAT
Are the basic functional units of
CARRIES GENETIC
heredity. They are composed of
INFORMATION FOR THE
DNA and contain information that
DEVELOPMENT AND
determines specific traits
FUNCTIONING OF AN
ORGANISM.
CHROMOSOMES
Consist of long DNA
molecules complexed with
many genes
GENOTYPE PHENOTYPE
Refers to the inherited genes Refers to the physical
in an organism appearance of an organism.
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 Genetics
Genetics is the study of inheritance of traits
by means of examination of their variation.

It is the study of heredity in general and of  Click icon to add picture
genes in particular.

Genetics forms one of the central pillars of 

biology and overlaps with many other areas,
such as agriculture, medicine, and 
biotechnology.
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 The term “genetics was
coined William Bateson in
1905.

It is derived from the

Greek word ‘genesis’
meaning grow into or to
become.
So, genetics is the study of heredity and
hereditary variations, it is the study of the
transmission of body features:

i.e., similarities and difference, from parents to

offspring and the laws related to this
transmission.
 William Bateson
William Bateson (August 1861 – 8 February 1926) was an
English geneticist. He was the first person to use the term
genetics to describe the study of heredity and biological
inheritance.

Bateson is credited with coining the terms "genetics,"

"allelomorphs" (later shortened to allele), "zygote,"
"heterozygote" and "homozygote."

In 1908, as a Professor of Biology at Cambridge, Bateson

helped establish the Cambridge School of Genetics.

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 Reginald Punnett
Punnett devised the "Punnett
Square" to depict the number and
variety of genetic combinations, and Click icon to add picture
had a role in shaping the Hardy-
Weinberg law.

Punnett and Bateson co-discovered

"coupling" or gene linkage.

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 Gregor Mendel
Gregor Mendel, botanist, teacher, and
Augustinian prelate, the first person to
lay the mathematical foundation of the Click icon to add picture
science of genetics, in what came to be
called Mendelism (Mendelian
genetics).

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 GENETICS AND ORGANISMS

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Eukaryotes are organisms in which

genetic material is contained within a
membrane-bound organelle called
nucleus
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 Prokaryotes are organisms that do not have
their genetic material contained within a
membrane-bound nucleus

Genetics and the Organism

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 Genetics and the Organism
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 Organisms’ Chromosomes Number

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 Organisms’ Chromosomes Number

Genetics and the Organism

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 DIPLOID
HAPLOID
Diploid is a term that
refers to the presence of Haploid refers to
two complete sets of the presence of a
chromosomes in an
organism’s cells, with each
single set of
parent contributing a chromosomes in an
chromosome to each pair. organism’s cells.

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 Polyploid
Polyploidy refers to cells the nuclei of which have three or more times the number of
chromosomes found in haploid cells. This condition frequently occurs in plants and may
result from chromosome duplication without division of the cytoplasm or from the union of
two diploid gametes. Polyploid animals, because they have more than the normal number of
sex chromosomes, are usually sterile.
TRIPLOIDS (3N) TETRAPLOIDS (4N) HEXAPLOID (6N)
Polyploids with three, five,
Triploidy is the term an organism made
or some other odd-number
referring the presence of
three sets of haploid (single)
multiple of the basic up of cells
chromosome number are containing six sets
chromosomes in an organism
sterile, because the
or cell line and is termed 3n, of chromosomes.
separation of homologous
where 1n is the haploid 
chromosomes cannot be
chromosome number for the
achieved properly during
species concerned
formation of the sex cells. 
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 Genetics and the Organism
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 • Haploid (n) – with one set of chromosomes
• Diploid (2n) – with two sets of chromosomes
• Triploid (3n) – with three sets of chromosomes
• Tetraploid (4n) – with four sets of chromosomes
• Pentaploid (5n) – with five sets of chromosomes
• Hexaploid (6n) – with six sets of chromosomes
• Heptaploid (or septaploid) (7n) – with seven sets of chromosomes
• Octaploid (or octoploid) (8n) – with eight sets of chromosomes

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Heterogametic is denoting the
sex which has sex
chromosomes that differ in
morphology, resulting in two
different kinds of gamete, e.g.
(in mammals) the male and (in
birds) the female.
Forming two kinds of gametes of which
one produces male offspring and the other
female offspring the human male is
heterogametic.

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The association between animals
can be divided into two groups:

homogenetic and heterogenetic.

The association between individuals

of the same species is
homogenetic, such as ants and
bees, and between those of different
species is heterogenetic

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 Genetics and the Organism
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 Expression of Traits

The norm of interaction refers to the

environment-phenotype relationship for a
specific genotype

GENOTYPE PHENOTYPE
Refers to the inherited genes Refers to the physical
in an organism appearance of an organism.
 HEREDITY AND VARIATION

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 HEREDITY
THE
SUM OF ALL BIOLOGICAL PROCESS
ES BY WHICH PARTICULAR CHARAC
TERISTICS ARE TRANSMITTED FRO
M PARENTS TO THEIR OFFSPRING
.
VARIATION
Any differences present between individuals
of any species, caused either by genetic
difference or by the effect of environmental
factors, is called variation. Variation can be
shown in physical appearance, metabolism,
behaviour,
learning and mental ability,
and other obvious characters.
 The concept of heredity encompasses two seemingly
paradoxical observations about organisms:

1. the constancy of a species from generation to

generation, and;
2. the variation among individuals within a species.

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 The concept of heredity encompasses two seemingly paradoxical
observations about organisms:

1. the constancy of a species from generation to generation, and;

2. the variation among individuals within a species.

Constancy (constant species) a species common to a particular association or community, but

not necessarily confined to that community

Variation  any difference between cells, individual organisms, or groups of organisms of any 

species caused either by genetic differences (genotypic variation) or by the effect of
environmental factors on the expression of the genetic potentials

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 HEREDITY
THE
SUM OF ALL BIOLOGICAL PROCESS
ES BY WHICH PARTICULAR CHARAC
TERISTICS ARE TRANSMITTED FRO
M PARENTS TO THEIR OFFSPRING
.
VARIATION
Any differences present between individuals
of any species, caused either by genetic
difference or by the effect of environmental
factors, is called variation. Variation can be
shown in physical appearance, metabolism,
behaviour,
learning and mental ability,
and other obvious characters.
 Types of Variation
Genotypic variations:
Genotypic variations refer to the differences in the genome, it may be due to structure or number of
chromosomes present in the cells or difference in the genetic constituents of the chromosomes. Skin, hair,
eye color, height are some of the genotypic variations in animals.
A variation can only be confirmed as genotypic by doing cross-breeding experiments.

Phenotypic variations:
Phenotypic variation is the diversity in a trait attributed to genotypic variation (differences in genotype)

Somatic variations:
Somatic variations are not hereditary. These are not due to changes in the alleles or chromosomes. These
are due to various factors such as nutrition, climate and due to other social interactions.

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 PRINCIPLES OF HEREDITY

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 Law of Dominance
States that in the heterozygous condition of the
genotype for a pair of alleles, the alleles which
express itself phenotypically is dominant and the one
which can’t express is recessive.

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 Law of Dominance
• 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.
• If the two alleles of an inherited pair differ (the heterozygous condition),
then one determines the organism’s appearance and is called the dominant
allele; the other has no noticeable effect on the organism’s appearance and
is called the recessive allele.
• Thus, the dominant allele will hide the phenotypic effects of the recessive
allele.
• This is known as the Law of Dominance but it is not a transmission law: it
concerns the expression of the genotype.
• The upper case letters are used to represent dominant alleles whereas the
lowercase letters are used to represent recessive alleles.

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 Law of Segregation
States that although the alleles of a character remain
together for a long time, they do not mix with each
other and separate at the time of gametogenesis so
that each gamete receives only one allele of a trait,
which is either dominant or recessive.

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 Law of Segregation
• The Law of Segregation states that every individual
organism contains two alleles for each trait, and that
these alleles segregate (separate) during meiosis such
that each gamete contains only one of the alleles.
• An offspring thus receives a pair of alleles for a trait
by inheriting homologous chromosomes from the
parent organisms: one allele for each trait from each
parent.
• Hence, according to the law, two members of a gene
pair segregate from each other during meiosis; each
gamete has an equal probability of obtaining either
member of the gene.

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 Law of Independent Assortment
States that when more than a pair of characters are
taken into consideration, alleles of a character can
undergo any sort of combination to give rise to a
phenotype differing from both the parents.

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 Law of Independent Assortment
•The law of independent assortment; unlinked or distantly
linked segregating genes pairs behave independently.
•The Law of Independent Assortment states that alleles for
separate traits are passed independently of one another.
•That is, the biological selection of an allele for one trait has
nothing to do with the selection of an allele for any other trait.
•Mendel found support for this law in his dihybrid cross
experiments. In his monohybrid crosses, an idealized 3:1 ratio
between dominant and recessive phenotypes resulted. In
dihybrid crosses, however, he found a 9:3:3:1 ratios.
•This shows that each of the two alleles is inherited
independently from the other, with a 3:1 phenotypic ratio for
each.

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 CHROMOSOME THEORY OF
INHERITANCE

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 The Chromosomal Theory of Inheritance
• The chromosomal theory of inheritance was given by Boveri
and Sutton in the early 1900s. It is the fundamental theory of
genetics.
• According to this theory, genes are the units of heredity and
are found in the chromosomes.
• Chromosomal Theory of Inheritance came into existence long
after Mendelian genetics.

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 The Chromosomal Theory of Inheritance
Theodore Boveri and Walter Sutton's
chromosome theory of inheritance
states that:
 genes are found at specific locations
on chromosomes, and that the behavior
of chromosomes during meiosis can
explain Mendel's laws of inheritance.

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 Observations of Chromosomal Theory of Inheritance
The Chromosomal Theory of Inheritance supports Mendel’s laws. Listed below are
the observations of this theory:
During the process of cell division-meiosis, the pairs of homologous chromosome
move as discrete structures, which are independent of other pairs of chromosomes.
There is a random distribution of chromosomes into the pre-gametes from each
homologous pair.
Each parent synthesizes gametes, which constitute only half of their chromosomal
complement.
Even though female (egg) and male (sperm) gametes differ in their size and
morphology, they have the same number of chromosomes, submitting equal
genetic contributions from each parent.
The gametic chromosomes fuse during fertilization to produce offspring with the
same number of a chromosome as their parents.

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 In 1900 three scientists independently
rediscovered Mendel's laws or ratios, which had
remained unnoticed by the scientific community
since Mendel had originally published them in
1866. Both de Vries and Correns rediscovered
the laws before reading Mendel's paper.
Rediscovery of Mendel's laws clarified
inheritance, but Mendel worked with traits of
whole organisms (plants).  How characteristics
are sorted and combined on a cellular level
where reproduction takes place became the
research projects of 20th century scientists.
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thank you