INTRODUCTION TO

GENETICS
By the end of this chapter
you should be able to:

• Understand the concept of

genetics Know the different
• branches of genetics
• Definition of genetic terms
• History of genetics
What Is Genetics?
 Introduction

• The science of heredity or genetics is the

study of two contradictory aspects of nature.
• Heredity and variation. The process of
transmission of characters from one
generation to next.
• Play important role in the formation of new
species ( speciation )
 Inheritance / Heredity

• Is cause of similarities between individuals.

• This is the reason that brothers and sisters with the same parents
resemble each other and with their parents.
 Variation

• Is the cause of differences between two individuals .

• This is the reason that brothers and sisters who do resemble each other
are still unique individuals.
 The four major
subdivisions
Genetics

Classic Molecula Populatio Quantitativ

al r n e
genetic genetics genetics genetics
s
 Classical genetics: Transmitting
traits from generation to
generation
• Study of physical traits as a stand-in or
the genes that control appearance, or
phenotype.

• Governed by Mendel’s Laws or

Mendelian genetics.

• Investigates the history of genes

inheritance in human population based on
phenotypic records of a family over
several generations
 Classical genetics
Major topics addressed in this field;

• The relation between chromosomes and heredity

• The arrangement of genes n the chromosome

• Gene mapping
 Molecular genetics:
The chemistry of
genes
• Investigate the structures and
functions of genes at the molecular
level.
• Investigate the physical and
chemical structures of the double
helix, DNA.
• Investigation on how the genetic
code works at the levels of DNA and
RNA
 Molecular genetics
Major topics covered by this field

• How genetic information is encoded, replicated and processed

• The cellular process of central dogma

• Gene regulation
 Population
genetics: Genetics
• of groups
The use of Mathematics and equations
to describe what goes on genetically is
population genetics.

• So what is population
Genetics?
• The use of Mendelian genetics and
examine the inheritance patterns of many
different individuals who have something
like geographic location in common.
 Population
genetics: Genetics
• Population geneticsof
helpsgroups
scientists
understand how the collective genetic
diversity of a population influences the health
of individuals within the population.

• Population genetics has revealed that all

cheetahs are very, very genetically similar; in
fact, they’re so similar that a skin graft from any
animal won’t be rejected by any other animal.
 Quantitative genetics:
Measuring the strength of
• Quantitative heredity
genetics examines traits that vary
in really subtle ways and relates those traits to
the underlying genetics of organisms.

• Quantitative genetics works on a complex

statistical approach to estimate how much
variation in a particular trait is due to the
environment and how much is actually genetic.

• This measure allows scientists to make

predictions about how offspring will turn out
based on characteristics of the parent organisms;
agriculture for plant and animal breeding
Genetic terminologies
Gene – a unit of heredity;
a section of DNA sequence
encoding a single protein
Brief History of
Genetics
Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
 Mendel’s Principles
1. Principle of Dominance:
One allele masked another, one allele was
dominant over the other in the F1 generation.

2. Principle of Segregation:
When gametes are formed, the pairs of
hereditary factors (genes) become separated, so
that each sex cell (egg/sperm) receives only one
kind of gene.
1. Principle of Indepndent Assortment
Members of one gene pair segregate
indepndently from other gene pairs during gamete
formation
Law of Dominance
Law of segregation
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide
to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide
to Genetics, Gonick. L. &
Wheelis, M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to
Genetics,
Gonick. L. & Wheelis, M.

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to Genetics, Gonick. L. & Wheelis,
M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
Adapted from The Cartoon Guide to
Genetics, Gonick. L. & Wheelis, M.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Adapted from The Cartoon Guide to
Genetics,
Copyright © 2009 Pearson Education, Inc. Gonick. L. & Wheelis, M. Prepared by Pratheep Sandrasaigaran
 1.3 Chromosomes and
Genes

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 The Chromosome Theory
of Inheritance
• Mendel conducted his experiments before
the structure and role of chromosomes were
known.

• About 20 years after his work was published,

advances in microscopy allowed researchers
to identify chromosomes.

• Chromosomes in diploid cells exist in pairs,

called homologous chromosomes (identical
in size and location of the centromere).

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 The Chromosome Theory
of Inheritance
• In mitosis, chromosomes are copied and
distributed so that each daughter cell
receives a diploid (2n) set of chromosomes.

• Meiosis is associated with gamete

formation.
• How many chromosome do you see in
human gamete?

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 The Chromosome Theory
of Inheritance
• Walter Sutton and Theodor Boveri noticed
that genes and chromosomes exist in pairs,

• They also notice that members of a gene

pair and members of a chromosome pair
separate from each other during gamete
formation.
• Based on these parallels, Sutton and Boveri
independently proposed that genes are
carried on chromosomes

A drawing of chromosome
X of D. melanogaster
Adapted from Concepts of Genetics, Klug, Cummings, Spencer, Palladino,
Copyright © 2009 Pearson Education, Inc.
2012
Prepared by Pratheep Sandrasaigaran .
 The Chromosome Theory
of Inheritance
• The theory- Inherited traits are controlled by
genes residing on chromosomes faithfully
transmitted through gametes, maintaining
genetic continuity from generation to generation.

• Why there are variations in eye colour

human?
• Due to allele (alternative forms of a gene) of a
gene controlling eye colour.

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 Phenotype and
Genotype.
• Different alleles may produce differences in
the observable features, or phenotype, of an
organism.
DNA
• The set of alleles for a given trait carried by
an organism is called the genotype.

• Knowing gene control the phenotype and

genotype, what is the chemical nature of
Genes?
Protein
• By the 1920s, scientists were aware that
proteins and DNA were the major chemical
components of chromosomes.

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 DNA is carrier of
•
genetic
DNA was the carrier of genetic information
came from work of Oswald Avery, Colin
MacLeod, and Maclyn McCarty with bacteria
and other experiments with viruses that
infect and kill cells of the bacterium
Escherichia coli.
• DNA makes RNA, which most often
makes protein “central dogma”.
An electron micrograph showing T phage
infecting
a cell of the bacterium E.
• How proteins can be responsible for Adaptedcoli
from Concepts of Genetics,
Klug, Cummings, Spencer,
imparting the properties of living systems? Palladino, 2012
.

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 Protein control the
biological
• Lets do
Maths..!
functions
• proteins are made from combinations of
20 different amino acids.

• Presume a protein is made of 3 bases of 203 = 8000

amino acid polypeptide. How many different
type of protein can be derived?

• Now, if a Protein is made of 100 bases of 20100 = ????

amino acid polypeptide. How many different
type of protein can be derived?
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Timeline of
genetics

timeline showing the development of genetics from Gregor Mendel’s work on pea plants to the current era of
genomics and its many applications in research, medicine, and society.

Adapted from Concepts of Genetics, Klug, Cummings, Spencer, Palladino, 2012

.

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 Central
dogma of
genetics
Gene expression consists of transcription of DNA into
mRNA (top) and the translation (center) of mRNA (with
the help of a ribosome) into a protein (bottom).

Adapted from Concepts of Genetics, Klug, Cummings, Spencer, Palladino, 2012

.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
1.3 Knowing the different
branches of genetics

Copyright © 2009 Pearson Education, Inc.

Prepared by Pratheep Sandrasaigaran
 Branches of
• Behaviouralgenetics
genetics
• Developmental
• genetics Conservation
• genetics Ecological
• genetics Evolutionary
• genetics Genetic
• engineering Genomics
• Human genetics
• Microbial
• genetics
Molecular genetics Dolly, a Finn Dorset sheep cloned from the
• Population genetics genetic material of an adult mammary cell, shown
next to her
• Quantitative first-born lamb,
Adapted from Concepts of Genetics, Klug, Cummings, Spencer,
Bonnie.
genetics Palladino,
2012
.
Copyright © 2009 Pearson Education, Inc.
Prepared by Pratheep Sandrasaigaran
 Diagram of the human chromosome set,
showing the location of some genes whose
mutant forms cause hereditary diseases.
Conditions that can be diagnosed using DNA
analysis are indicated by a red dot

Adapted from Concepts of Genetics, Klug, Cummings, Spencer,

Palladino,
Copyright © 2009 Pearson Education, Inc.
2012
. Prepared by Pratheep Sandrasaigaran