Chapter 5

Introduction to Genetics and Evolution

Team biology
Learning Objectives
• At the end of this unit, students will be able to
Define basic terminologies in Genetics and Evolution
Understand the Central Dogma of Biology: mechanisms of the flow of
Genetic Information
Describe cell division and identify types of cell division
Describe mutation, and understand the causes and consequences in health
Define basic terminologies in Evolution
Describe the theories of evolution
Introduction
• Genetics:
Branch of biology studying genes, heredity, and variation in
organisms
Genetic information determines traits/characteristics
Studies how traits are passed from parents to their offspring (study of
heredity)
• Heredity:
Is the process by which genetic information, encoded in DNA, is
transmitted across generations.
In the process of inheritance, molecular mechanisms reshuffle,
duplicate, and alter genes in a way that produces genetic variation
• Variation is the raw material for evolution
• The appearance and behavior of an offspring is shaped by:
The inherited genetic material from the parents
The environment in which an organism lives
Intro cont’d
• Basic components of genetics are
DNA
RNA
Genes
Chromosomes
• DNA molecule:
• The genetic material that hold all the genetic information for almost all
organisms
• It provides cells with the information they need to perform tasks that allow an
organism to grow, survive and reproduce.
• Is the genetic material, found in the nucleus
• Has a double helix structure, organized into chromosomes
• Composed of nucleotides (phosphate, sugar, and nitrogenous base)
• Adenine (A) pairs with thymine (T), and cytosine (C) pairs with guanine (G)
Mendelian Inheritance
• Gregor Mendel: discovered the principles of heredity in the middle of the 19th
century
• Introduced terms such as factors, dominant, recessive, genotype, homozygous,
heterozygous, and phenotype
• Interested in hybridization, particularly the different forms in which they appear
and the statistical relationship between them.
• Refers to the patterns of inheritance of traits controlled by a single gene with two
alternative alleles, from parent to offspring.
• Performed thousands of crosses with garden peas (Pisum sativum) at his
monastery.
Why pea plants?
Mendel Cont’d
• Following his experiment on pea plant (Pisum sativum), Gregor Mendel had made
five conclusions
1. Characters are unitary (they are discrete)
2. Genes have alternate forms, each inherited from one of two parents (alleles)
3. One allele is dominant over the other. The phenotype reflects the dominant
4. Gametes are created by random segregation (Homozygotic or Heterozygotic)
5. Different traits have independent assortment
• Based on the five conclusions, he proposed three laws. These are
1. The law of dominance
2. The law of segregation
3. The law of independent assortment
Mendel Cont’d
• Principles of inheritance proposed by 2. The law of independent assortment:
Mendel
Genes do not influence each other with
1. The law of segregation: regard to the sorting of alleles into gametes.
States that copies of genes Hence, every possible combination of
randomly separate or segregate
during meiosis (Meiosis I) so that alleles for every gene is equally likely to
each gamete receives only one occur.
allele. Explained by random alignment of
different homologous pairs of
chromosomes at metaphase I stage
meiosis
Also states that the separate genes for
separate traits are passed independently of
one another
Best illustrated using di-hybrid crosses.
Segregation of gametes Independent assortment
 Mendel cont’d
3. The law of dominance
Hybrid offspring will only inherit
the dominant trait in the
phenotype.
This recognizes the recessive traits
and the dominant traits.
Mendel cont’d
• Factors contributed to Mendel’s success:
Started his crosses only with plants he demonstrated were true-breeding
He studied conspicuous traits
He followed crosses for several generations
He studied few pairs of alternative characteristics such as color, shape, and
position of the seeds at a time
He kept of record of his work
He analysed his results statistically (mathematical regularity)

14/05/2026 Globedock Academy 10

Mendel cont’d
• His work were rediscovered in 1900 by 3 scientists
Hugo de Vries
Carl Correns
Erich von Tschermak-Seysenegg

Why Mendel choose Pisum sativum for his

experimentation?
Mendel cont’d
• Mendel’s contributions:
Monohybrid cross: Used to determine whether both parents contribute
equally to the phenotype of a particular trait in offspring.
Dihybrid cross:
Used to study the inheritance of two traits simultaneously
Works only if genes are unlinked
Does not account for gene interactions (Epistasis and non-mendelian
inheritance)
Test cross: Used to determine the unknown genotype of an organism by
crossing with a known homozygous recessive genotype.
Back cross: used to recover the elite genotype by crossing the F1 with either
of the two parents
Non-Mendelian inheritance
• Not in accordance with Mendel’s law (the existence of genes in two different
forms or alleles and their expression based on their dominance or recessive
nature).
 Therefore:
Do not follow one or more laws of the Mendelian genetics
Refers to the inheritance of traits that have a more complex genetic basis than
one gene with two alleles and complete dominance.
Recognizes other conditions in which alleles show different dominance
relationships and modes of inheritance
 Co-dominance
 Incomplete dominance
 Gene linkage and multiple allelism (modes of inheritance)
1. Co-dominance
 Both alleles (dominant and recessive)
are expressed equally in the phenotype
of the heterozygote.
 No masking or suppression of the
dominant allele over the recessive one
 E.g. Coat color (1 red: 2 roans: 1 white
coat colour)
 Heterozygous individuals (RW) show
roan coat colour as both the alleles
express themselves equally.
 The AB blood group in humans
2. Incomplete dominance
 Mendel’s principle of dominance is
not applicable.
 The mix of genetic traits produces an
intermediate phenotype in
heterozygotes in terms of physical
traits.
 In this case, an intermediate
phenotype results in heterozygotes
who inherit both alleles.
 The case of pink rose due to the
hybridized white and red varieties of
rose
 3. Multiple alleles
• Each gene have a pair of alleles: Mendel • The A and B blood types are also co-
dominant.
 However, there are traits controlled by a
single gene with more than two alleles.
 Called multiple allele traits.
 Example: ABO blood group system
have 3 allelic forms: A, B, & O.
 The antigens and antibodies present in each
 Based on the presence or absence of of the ABO blood types determines the
process of blood transfusion.
antigens A & B on the surface of
 No antigen is associated with the O allele
RBC (Universal donor)
 As a result, people may have type A,
 No antibodies are associated with the AB
B, O, or AB blood. allele (Universal acceptor)
Gene Linkage
 Refers to genes that are located on the same chromosome and explains why
certain characteristics are frequently inherited together.
 Alleles for these genes tend to segregate together during meiosis, unless they are
separated by crossing-over.
Homologous chromosomes exchange genetic material during meiosis I
(Prophase I).
The closer together two genes are on a chromosome, the less likely their
alleles will be separated by crossing-over.
 Its principles are proposed by Thomas Morgan:
Linked genes seemed to violate the principle of independent assortment
• For example, genes for hair color and eye color are linked, so certain hair and eye
colours tend to be inherited together
Blond hair with blue eyes and brown hair with brown eyes.
Molecular genetics and inheritance
• DNA (deoxyribonucleic acid);
The molecule that holds the genetic information for a cell
Contains a code that can be used by a cell to express certain genes
During cell division specific sections of a DNA molecule provide the
information to build specific proteins which can then be used by a cell to
express the desired gene
In eukaryotic cells, it is found in the nucleus and it is called nucleoid in
Prokaryotes
Are replicated during cell division and hence, the two new cells contain all the
same DNA that the original cell had
DNA is a very stable molecule at normal temperature
 Structure of DNA
• Made up two strands of polynucleotides joined together and twisted into a double
helix and the strands are anti-parallel to each other.
• The basic unit of DNA strand is a nucleotide
• All nucleotides have:
• a phosphate group, a pentose/ribose sugar and one of four nitrogen bases
• There are four types of nucleotides:-
• Adenine (A) – containing nucleotide
• Guanine (G) – containing nucleotide
• Cytosine (C) - containing nucleotide
• Thymine (T) or Uracil– containing nucleotide in DNA or RNA respectively
 Structure cont..…
• Bonds that hold together the sugar in one nucleotide and the phosphate group of
the next nucleotide is phosphodiester bond
• The two strands are held together in position through the bases by hydrogen
bonds
• The nucleotides in one strand are paired with the nucleotides in the other strand
according to the Chargaff’s rule of base pairing
Adenine–Thymine(uracil in RNA) by two hydrogen bonds
Cytosine–Guanine three hydrogen bonds
• The DNA molecule must be stable to ensure integrity/fidelity of the genetic code
 Structure cont..…

Fig. Structure of DNA

Structure of chromosomes
• Chromosomes;
• A thread- like structure that is made up of DNA and histone
• Histone is the core of a chromosome around which chromosome’s DNA
wrapped
• The loosely organized form of chromosome throughout the nucleus in loops
when the cell is not dividing is called Chromatin.
• Individual chromosomes are not easily distinguished unless condensed.
• On the condensed organization of chromosome, genes are inactive while
uncondensed or loose organization allows the genes to be active.
Structure of chromosomes cont’d
• Chromosomes:
Are structures that contain DNA
Found in the nucleus of eukaryotic cells
Composed of DNA tightly coiled around proteins called Histones
DNA and associated proteins form a complex called chromatin
Chromatin is the relaxed form of DNA during the interphase of the cell cycle
 Allows for gene expression and DNA replication
During cell division, chromatin condenses into visible chromosomes
The centromere holds sister chromatids together during cell division
Plays a crucial role in proper chromosome segregation
When chromosomes are condensed, they are visible but inactive
When uncondensed, chromosomes are invisible but active
Structure cont’d
• Telomeres
 are protective caps at the ends of
chromosomes
 Consist of repetitive DNA sequences
 Prevent degradation and fusion of
chromosomes
DNA replication and cell division
• DNA replication:
Is the process of copying DNA molecules to produce identical copies.
It is a crucial step in cell division and ensures genetic continuity.
Hence, it is the basis for reproduction and inheritance
• Semi-conservative approaches of replication has been used
• Each formed new DNA molecule contains one strand from the original (old) DNA
and one new strand DNA molecules
• Both new DNA molecules formed are identical to each other and to the original
molecule
Key Players in DNA Replication
• DNA polymerase: Enzyme that catalyses DNA synthesis.
• Template DNA: Original DNA strand that serves as a template for
replication.
• Nucleotides: Building blocks of DNA, consisting of a sugar,
phosphate, and nitrogenous base
Enzymes Involved in DNA Replication
1. Topoisomerase: Removes supercoiling in the double-stranded DNA
regions
2. DNA helicase: Breaks hydrogen bonds and unwinds the double helix
DNA
3. RPA (Replication Protein A): Stabilizes single-stranded DNA and keeps
the strands separated in eukaryotes (equivalent to Single-Strand Binding
Proteins in prokaryotes)
4. DNA polymerase: Synthesizes new DNA strands by adding
complementary nucleotides (assembling free DNA nucleotides into new
strands)
5. Primase: Synthesizes RNA primers to initiate DNA synthesis
6. DNA ligase: Joins the Okazaki fragments of the lagging strand
7. Telomerase: Lengthens telomeric DNA by adding repetitive nucleotide
sequences to the ends of eukaryotic chromosomes
Steps of DNA Replication
1. Initiation:
• Replication begins at specific sites called origins of replication.
• Proteins unwind and separate the DNA double helix.
2. Elongation:
• DNA polymerase adds nucleotides to the growing DNA strand.
• It matches complementary bases to the template strand
• It reads the template strand in the 3' to 5' direction and synthesizes the new
strand in the 5' to 3' direction.
Steps of DNA Replication
• Leading Strand Synthesis: DNA polymerase synthesizes the leading
strand continuously towards the replication fork. Only one RNA primer is used
• Lagging Strand Synthesis: The lagging strand is synthesized in short
fragments called Okazaki fragments. Each fragment use one RNA
primer
• DNA polymerase synthesizes each fragment in the opposite direction
of the replication fork.
• DNA Ligase: DNA ligase joins the Okazaki fragments on the lagging
strand. It creates a continuous DNA strand.
Steps of DNA Replication
[Link] of Replication
• Replication proceeds bidirectionally until it reaches termination sites.
• Replication forks converge and complete the replication process.
• Termination at a specific locus, when it occurs, involves the interaction between
two components:
• a termination site sequence in the DNA
• a protein which binds to this sequence to physically stop DNA replication
• In germ cells, telomerase extends the repetitive sequences of the telomere region to prevent degradation.
DNA Replication cont’d

Fig. Replication of DNA

Cell division
• Cell division is the process by which a parent cell divides into two or more
daughter cells.
• It is vital for growth, development, tissue repair, and reproduction.
• The primary concern of cell division is the maintenance of the original cell's
genome.
• Always preceded by DNA replication
• After growth, cell division by mitosis allows for continual construction and
repair of the organism.
• Prokaryotes and other unicellular organisms undergo vegetative division
• Two distinct types of cell division in eukaryotes
1. Mitosis
2. Meiosis
1. Mitosis
• Is Equational division
• Results in genetically identical daughter cells to the parent cell
• a vegetative division
• It consists of several stages: Prophase, Metaphase, Anaphase, and Telophase.
A. Prophase
• Chromosomes condense, becoming visible
• The nuclear envelope starts to break down
• Spindle fiber form and attach to the centromeres of the chromosomes
Mitosis cont’d
B. Metaphase
• Chromosomes align along the equator of the cell, known as the metaphase
plate.
• Spindle fiber ensure proper alignment and tension.
C. Anaphase
• Sister chromatids separate and move towards opposite poles of the cell.
• Spindle fiber shorten, pulling the chromatids apart.
D. Telophase
• Chromosomes reach the opposite poles of the cell.
• Nuclear envelopes begin to reassemble around each set of chromosomes.
• Chromosomes start to decondense.
The formation of identical daughter cells during mitosis
Mitosis cont’d
• Cytokinesis
Cytokinesis is the division of the
cytoplasm, resulting in two
separate daughter cells.
In animal cells, a cleavage furrow
forms and pinches the cell
membrane.
In plant cells, a cell plate forms to
divide the cytoplasm
2. Meiosis (Reduction division)
• The physical basis of inheritance are genes, which are a section of
chromosomes
• Chromosomes carry genetic information through gametes
• Gametes are produced by the process of meiosis
Thus it is called a reproductive cell division
• Produced four haploid daughter cells after two consecutive divisions.
• The first division (Meiosis I) separates Homologous chromosomes,
but the second division (Meiosis II) separates the sister chromatids
• Each division has its own sets of stages
Stages of Meiosis I
1. Prophase I
Homologous chromosomes pair up and exchange segments by Crossing-over.
Hence there is genetic recombination
Spindle fiber formed
Nuclear membranes disintegrated
2. Metaphase I
Homologous pair line up at the metaphase plate
Spindle fiber organized by centrioles was attached to each chromosome
3. Anaphase I
• Homologous chromosomes are pulled apart by shortening of the spindle fiber
Stages of Meiosis I cont’d
4. Telophase I
Two nuclei (Haploid)
cells are formed
Each chromosome is
still composed of two
chromatids
Cytokinesis occurs and
nuclear membrane
reformed
 Stages of Meiosis II
• Separate each
chromosome into two
chromatids
• The same four phases
occur as meiosis I
• Important differences
with meiosis I
• No crossing-over in
prophase II
• Chromatids are
separated in
anaphase II
Meiosis cont’d
• Key outcomes of meiosis
• Four daughter cells with half the
chromosome number of the
parent are formed
• The daughter cells have genetic
variation due to crossing-over
• Crossing-over
• The reciprocal exchange of
corresponding segment of DNA
Protein synthesis
The central dogma of Biology
• DNA contains specific sequences of
amino acids that codes for specific
protein
• Code for protein synthesis specified by
DNA has to be sent to ribosome
(protein synthesis machinery)
• Protein synthesis is the process by
which cells build proteins using the
instructions encoded in DNA
• Proteins do most of the works in the cell
Events during protein synthesis
1. Transcription:
• DNA code for protein is rewritten in a molecule of messenger RNA.
• Gene expression begins from transcription.
• Components include
• DNA template with promoter and terminator regions
• Transcription factors (TFs): starter, free nucleotides, RNA polymerase, termination
factors.
 Transcription factors: proteins that bind to a regulatory sequence of DNA called a
promoter located next to the gene they influence.
 RNA polymerase then binds to the DNA-TF complex & become activated and transcribes
the antisense template strand of the DNA.
 Transcription terminates at termination site & mRNA and RNA polymerase are released.
 mRNA travels from nucleus to ribosome through nuclear pore and is subjected for post-
transcriptional modification in eukaryotes
 Free amino acids are transported from cytoplasm to ribosome by transfer RNA
Events during protein synthesis cont’d
• Ribosomes read mRNA code and • How does RNA polymerase
assembles amino acids presented by know where to start
tRNA into a protein
mRNA has start codon (AUG)
2. Translation: Is the pathways of
protein biosynthesis involved in
• Requirements for protein
interpreting the information coded in synthesis (translation)
mRNA • mRNA
• mRNA are read by the translation • tRNA
machinery including: • Ribosomal RNA (rRNA)
• Ribosomes • Energy in the form of GTP
• tRNA • Enzymes and some specific factors
• rRNA
Events during protein synthesis cont’d
• Stages of translation;
• #Question
1. Activation of amino acids
(aminoacyl tRNA synthase and • Differences between prokaryotes
GTP) and eukaryotes in the process of
2. Initiation: locating the start protein synthesis
codon and ribosomal
dissociation
3. Elongation: binding of next
AAtRNA to A site & peptide
formation
4. Termination: recognizing
terminal codon and releasing
protein
Why GTP is used in Translation
1. Has a role as a Molecular Switch where its hydrolysis is tightly coupled
to conformational changes in translation factors (like EF-Tu, EF-G, and
initiation factors).
• These changes act like "checkpoints," ensuring that each step of
translation (codon recognition, peptide bond formation, translocation)
occurs in the correct order.
2. It ensures accuracy and fidelity as its hydrolysis provides a proofreading
mechanism:
• E.g. EF-Tu only releases the correct aminoacyl-tRNA into the
ribosome after GTP is hydrolyzed.
• This reduces errors in protein synthesis, something ATP alone does
not provide.
3. Important for Ribosomal Dynamics as its hydrolysis is used by EF-G to
drive the ribosome forward by one codon, a mechanical ).
The Genetic Code
• Genetic code refers to the set of 64 nucleotide triplets that specify the 20 amino
acids and polypeptide initiation and termination
• Characteristics of the genetic code
1. The genetic code is composed of nucleotide triplets.
 3 nucleotides represents one amino acid
 There are 4 nucleotides. Thus 4*3 = 64 possible triplet codons
 Only the sense strand or coding strand of a DNA molecule carries the code
for proteins
2. The genetic code is degenerate.
 All amino-acids have more than one codons except ‘Methionine’ and
‘Tryptophan’
 E.g. Arginine has 6 codons
The Genetic Code cont’d
3. The genetic code is non-overlapping.
• Each triplet is distinct from all other triplets
4. The genetic code is universal.
• The codons have similar meaning in all organisms, from viruses to human.
5. The genetic code has start and stop codons
• Specific codons are used to initiate and terminate the amino-acid chain
• The start codon = AUG
• The stop codon = UAG, UAA, UGA
Two ways of representing the genetic code
Control of Gene expression
• Regulation of transcription is the most common and important level of gene control
• Genes are switched on or off by transcription factors
• Gene expression begins when RNA polymerase binds to the DNA–transcription factor complex
at the promoter region of a gene.
• In addition to transcriptional control, gene expression can also be regulated after transcription.
• Post-transcriptional regulation/modification using the unusual double stranded short
interfering RNAs (siRNAs)
• Steps of the action of SiRNA:
1. Double stranded RNA is produced in the nucleus
2. The RNA is chopped in to fragments using an enzyme called Dicer
3. Antisense strands of SiRNA binds with a complex of molecules called RISC (RNA induced
silencing complex)
4. The binding of SiRNA with mRNA allows RISC to degrade mRNA into fragments
5. If mRNA is prevented from translating its Codons into amino acid then the protein for
which the gene codes for cannot be built (silenced).
Mutation
• It refers to any change in the genome of an organism and may involve one or
more nucleotides, entire genes, chromosomes, or even complete sets of
chromosomes
• An average of 120 new mutations per cell division occurs for an approximately 6
× 10⁹ base pairs of genes of the human cell
• 95% of our DNA is non-coding, hence most mutation are unlikely to affect coding
genes. B/c most mutations are detected & repaired by cellular repair
mechanisms.
• It is the only process that creates new genes, thus it is the raw material of
evolution
While other processes such as crossing over, segregation and random
assortment in meiosis reshuffle existing genetic material
Mutation cont’d
• Causes of mutation:
• Spontaneous Mutation:
Cause unknown.
• Induced Mutation: Caused
by mutagenic agents.
• Mutagenic Agents:
Radiation (X-ray, Ultra-
violet, Nuclear), certain
chemicals.
Types of mutation
1. Point mutation
1. Point mutation: is a change in • A change in a single nucleotide in
a single nucleotide in DNA. DNA.
2. Chromosomal • Less serious than chromosomal
mutation: involving a long alterations.
segment of DNA • Occur during DNA replication,
changing the resulting protein.
• Types of Point Mutations:
Substitution, Addition, Deletion.
Types, mechanisms and outcomes of point mutation
Type Mechanism Outcomes Example
Substitution Silent No change in GTA GTT
amino acid Valine
Mis-sense Amino acid CCC ACC
change Proline Threonine
Non-sense Stop codon TAC TAG
introduced UAU UAA
Tyrosine Stop
Addition/ Extra base Frameshift → GAA(Glu) GCC(Ala) ACU(Thr)
insertion added missense/nonsense Upon the addition of base A

GAA(Glu) AGC(Ser) CAC(His)

Deletion Base removed Frameshift →
missense/nonsense
Deletion and Addition in Point Mutations
• Both lead to significant mutations, altering
the entire sequence post-mutation.
• Both cause Frameshift mutations that
results in altered mRNA and potentially
non-functional or absent proteins.
• Missing or extra triplets can cause changes
in mRNA codons.
• Frameshift example:
THEMANWASHOTANDRANFORHIS
HAT
Take out the S at the end of WAS (a
deletion mutation), it becomes:
• THE MAN WAH OTA NDR ANF
ORHISHAT
2. Chromosomal Mutations
• Mutations involving a long DNA segment.
• Occur due to changes in chromosome
arrangement or structure.
• Commonly happen during meiosis, especially
in prophase I.
• Can lead to significant outcomes like cell
death.
• Potential impacts on the whole organism.
• May cause severe issues like foetal
abortion if essential DNA parts are
affected.
Types of Chromosomal Mutations
• Two Main Types:
1. Structural mutations (Chromosomal Mutations I)
• Any change in the part/segment of a chromosome
• Characterized by the alteration of the chromosome structure.
• Mechanism:
• Typically involves breaking of chromosomes, often forming sticky
ends.
• Includes inversion, deletion, duplication, and translocation
2. Numerical mutation (Chromosomal Mutations II)
• Any change in the number of chromosomes of a cell/organism.
• Includes Aneuploidy and Polyploidy.
1. Structural mutations (Chromosomal Mutations I)
• Inversion
• A segment of a chromosome
is reversed end to end.
• May affect gene regulation or
fertility
• Paracentric Inversion: Does
not include the chromosome's
centromere.
• Pericentric Inversion:
Includes the chromosome's
centromere.
Structural mutations cont’d
• Deletion types
• Deletion • Terminal Deletion: A single end
• Removal or loss of a chromosome piece is deleted.
segment. • Interstitial Deletion: Two
• E.g. Gidu syndrome- deletion of separate deletions, one within and
Chr.5 segment one at the end.
• Microdeletions: Very small
deletions, often undetectable
Structural mutations cont’d
• Duplication
Presence of an extra copy of a
segment or the entire chromosome
in the nucleus.
Also known as partial trisomy.
Commonly, an organism with
typically two copies of a
chromosome ends up with three.
Can occur anywhere along the
chromosome, including middle or
ends.
Cause abnormal protein levels
Structural mutations cont’d
• Translocation
A segment of a chromosome breaks
off and relocates to a different
chromosome.
Create fusion of chromosomes that
leads to cancer
Two types:
A. Reciprocal Translocation:
Exchange of segments
between two chromosomes.
B. Robertsonian Translocation:
A chromosome segment
attaches to another,
causing it to elongate.
Structural mutations cont’d
• Translocation
Balanced: Chromosome remains fully
functional with no loss of genetic
information.
Unbalanced: Important genetic
information is missing, leading to
dysfunctional chromosomes.
Example: Translocation of
chromosome 21 Down syndrome.
2. Numerical mutation (Chromosomal Mutations II)
• Any change in the number of chromosomes of a cell/organism that affect the
whole chromosome counts
• Often result from errors during cell division and can cause serious genetic
disorders
• Caused by Nondisjunction in meiosis:
Failure of chromosomes to separate during egg or sperm formation.
• Involve gain or loss of entire chromosomes, not just segments
• Types:
Aneuploidy and Polyploidy.
• General category:
Heteroploidy - mutations altering chromosome number in cells.
1. Aneuploidy
• Mutation causing loss or addition of a • Examples
chromosome. • Trisomy = 2n+1 (47 chromosomes):
• Results from nondisjunction during  Down’s syndrome
meiosis or mitosis.
• monosomy = 2n -1 (45 chromosomes):
• Alters the normal chromosome set.  Turner syndrome
• Leads to severe developmental
• Nullisomy = 2n-2 (44 chromosomes):
abnormalities because two separate
sets of genes are overexpressed.  fatal during the earliest embryonic
stages
• Double trisomy (XY or YY) = 2n+2 (48
chromosomes)
•
2. Polyploidy
• Entire sets of chromosomes are
duplicated (e.g., triploid = 3n,
tetraploid = 4n).
• Mutation leading to double
genome sets in an organism.
• Rare in nature but observed in
some plants.
• Effects include gigantism and
reduced fertility.
Introduction to Evolution
• Evolution:
• Is the change in genetic composition of a population over successive
generations
• Key Mechanisms:
• Meiosis, hybridization, natural selection, mutation.
• Impact
• Leads to divergence within species, potentially forming new species.
• Theories of the origin of life
• A subject of complex and controversial nature
1. Special Creationism 2. Spontaneous Generation

• Special creationism is the belief that Spontaneous generation is the

life on Earth was created by hypothesis that life can arise from non-
Supernatural or divine forces. living matter.
• Evolution is based on scientific Believed to produce living organisms
thinking, while special creationism from inanimate objects, like mice from
involves spiritual or religious beliefs. corn or maggots from rotting meat.
• The rigidity of belief in special Aristotle (384-322 BC), Greek
creation varies within and among philosopher, articulated early theories
religions. of spontaneous generation.
Major critiques of spontaneous generation theory
1. Francesco Redi's 2. Louis Pasteur’s
• Italian scientist • `French scientist
• Test the spontaneous creation of • explored the origins of micro-
maggots. organisms.
• Used "swan-neck" flasks to study
broth fermentation.
• "Omne vivum ex vivo" (Life only
comes from life).
Spontaneous Generation cont’d
• Pasteur and Redi’s showed that life originate from existing life.
• Redi’s Focus: Demonstrated macro-organisms
• Pasteur’s Focus: Showed micro-organisms
• Their work collectively disproved the concept of spontaneous generation.
• The Paradox: If all life comes from pre-existing life, what about the very first
cell?
3. Eternity of Life Theory 4. Cosmozoan Theory
• This theory states that life on Earth • Proposed by Richter in 1865.
has no beginning or end. • Life arrived on Earth from outer
• Life is an inherent property of the space, likely through meteorites.
Universe, always existing as the • Arrived in the form of highly
Universe has. resistant spores, germs, or simple
• If life exists now in an particles may have traveled with
unchanging Universe, it must cosmic dust.
have always been present. • Helmholtz's Speculation (1884):
Protoplasm could have reached Earth
via falling meteorites.
 5. Biochemical Origin of Life
• Russian biologist Aleksandr Oparin (1924) and English biologist John Haldane
(1929).
• Independent ideas on organic molecule formation
• Organic molecules are formed from abiogenic materials in the presence of
external energy sources like ultraviolet radiation.
• Primitive atmosphere was reducing, with low free oxygen.
• Presence of ammonia, water vapor, and other gases.
• Suggested first life forms
• Appear in the warm primitive ocean.
• Heterotopic.
Biochemical Origin of Life cont’d
• Stanley Miller's experiment validating Oparin-Haldane model.
• Mix basic elements to synthesis of simple organic compounds and
• Combining them results in the formation of proteins and nucleic acid building
blocks.
• He was able to produce organic compound including;
amino acids– essential to form proteins
pentose sugars– needed to form nucleic acids
hexose sugars– needed for respiration
hydrogen cyanide: used to synthesize nitrogenous bases
Introduction to Autotrophs
• Autotrophs are organisms that create essential materials like sugars, proteins, and
lipids for life.
• Form the basis of all food chains.
• First Organisms: Appeared about 4 billion years ago.
• Prokaryotes.
• Three Distinct Lines from Prokaryotes:
• Archaebacteria: Includes thermophilic sulphobacteria, methanobacteria, and
halophilic bacteria.
• Eubacteria: Ordinary bacteria and cyanobacteria.
• Eukaryotes: Evolved into protoctistans, fungi, plants, animals
Introduction to Autotrophs cont’d
• Shift from Reducing Atmosphere to Oxygen Atmosphere: Occurred
around 2.4 billion years ago.
• Greatly affected the evolution of early life forms.
Theories of Evolution
1. Lamarckism (Theory of transformation)
• Proposed by Jean-Baptiste De Lamarck (1744 – 1829)
• Pioneering French Naturalist
• Theory of Inheritance of Acquired Characters (1809)
• Key Components:
• Proposed the concept of New Needs due to environmental changes like light,
temperature, migration
• Results in adaptation through changes in habits or behavior
• Use and Disuse of Organs
• Continuous use of a structure or process leads to its development, while
disuse leads to its reduction.
• Inheritance of Acquired Characters
• Lamarck believed that favorable acquired characters are inheritable
2. Darwinism: The Theory of Natural Selection
• Originated by Charles Darwin, an
English naturalist (1809-1882 A.D.).
• Visited five of the Galapagos Islands,
located 600 miles off Ecuador's coast.
• Conducted studies on local finches,
collecting specimens and making
detailed drawings.
• Observed similarities and differences
among finch species on different
islands.
Darwin theory cont’d
• Has 4 core ideas.
Fecundity /Over reproduction/: all species tend to produce more offspring than
can possibly survive.
Variation: there is variation among offspring. Useful variations are inherited
by next generation
Struggle for survival: as there is limited resource , there will be struggle
among the offspring for survival
Survival of the fittest: those members of species that are better adaptation to
the environment will survive.
3. Neo-Darwinism
• It is the revised version of Darwin’s theory of evolution by means natural selection
• It combines Darwin’s theory with genetics, biochemistry and ethology/animal
behavior
• Alleles of genes determine features of organisms.
• A population evolves into new species when its gene pool is changed.
• Gene pool refers to all alleles of all the gene found in the organisms
• If an allele is advantageous in an organisms in its environment. The following will
happen:
The advantageous allele of the gene will survive to reproduce in greater
numbers.
The advantageous allele will pass to the offspring in greater number.
The frequency of the advantageous allele will be higher in the next generation.