REVIEW

LECTURE
EVOLUTION &
VARIATIONS AND GENETICS
BEST UNIT #: 10
PMC TOPIC #: 8 & 13
 CONCEPT OF EVOLUTION
 Evolution refers to the processes that have
transformed life on earth from its earliest form to the
vast diversity that we observe today.
 Two schools of thoughts
Theory of Special Creation
 All living things came into existence in their present
forms especially and specifically created by nature
Theory of Natural Selection
 Organisms evolved through time e.g. one type of
organism giving rise to another type of organism.
 Present-day concept of evolution is based on history.
 ORIGIN OF LIFE ACCORDING TO
EVOLUTION
Hydrothermal Vent Hypothesis
 Underwater hot springs → hydrothermal vents.
 Temperature up to 120ºC
Origin of First Life Form
 Archaebacteria → first life form
Evolution of Photosynthetic Organisms
 First photosynthetic organisms → used hydrogen sulfide as
a source of hydrogen.
 Cyanobacteria used Water and release oxygen
Evolution of Aerobic Respiration
 Oxygen released by cyanobacteria
 Aerobic respiration
 Ozone formation about 4.2 billion (420 million) years ago,
 ORIGIN OF LIFE ACCORDING TO
EVOLUTION
Evolution of Prokaryotes into Eukaryotes
 Prokaryotes may have arisen more than 3.5 billion
years ago.
 Eukaryotes may have evolved 1.5 billion years ago.
 Major change is development of organelles.
 Two hypotheses are considered in this context.
Endosymbiont Hypothesis
 Origin of Mitochondria
 Origin of Flagella
 Origin of Chloroplast
Cell Membrane Invagination Hypothesis
ORIGIN OF LIFE ACCORDING TO
EVOLUTION
 LAMARCKISM
Main Points of Lamarckism
 He pictures evolution as
ladder of life.
 Use and Disuse of Organs
 Blacksmith developing a
bigger biceps.
 Loss of legs in snakes due
to their habitat.
 Inheritance of Acquired
Characters
 According to Lamarck,
acquired characters are
continuously inherited and
accumulated.
 Rejected
 DARWINISM
 Mission was to expand the navy’s knowledge about
natural resources.
Darwin’s Observations during His Voyage
 Darwin noticed that flora and fauna
 South American fossils that Darwin found
 He collected 13 types of finches.
 Theory of uniformitarianism.
 Thomas R. Malthus wrote an essay on the; principle of
populations’
 Darwin found the theory of the origin of species by
means of natural selection
 According to Darwin, new species would arise from an
ancestral form by the gradual accumulation of
adaptations to different environments
 DARWINISM
Descent with Modification
 Darwin believed in perceived unity in life.
 Evolutionary tree.
Natural Selection and Adaptation
Overproduction
1. Variations
2. Struggle for Existence
3. Survival of the Fittest
4. Evolution
Neo-Darwinism
 Mendelian and Darwinism were reconciled
 Integrated discoveries and ideas from many different
fields, including biochemistry, ecology, paleontology,
taxonomy, biogeography, and of course, population
genetics.
 EVIDENCES OF EVOLUTION
Evidences from Biogeography
 Armadillos (armored mammals) live only in America.
 Darwin noticed that South America lacked rabbits.
Evidences from Paleontology
 Strong evidence in the favor of evolution.
 Fossils are found in sedimentary rocks.
 Oldest known fossils are of prokaryotes.
 Fishes → Amphibians → Reptiles → Mammals + Birds
Evidences from Comparative Anatomy
 Homologous Structures → Divergent evolution
 Analogous Structures → Convergent evolution
 Vestigial Structures → Vermiform appendix in
carnivores, ear muscles in man
 About 90 such structures present in the human body
 EVIDENCES OF EVOLUTION
Evidences from Molecular Biology
 Gills pouch in all vertebrates at embryonic stage
 Ontogeny phylogeny recapitulate
Evidences from Molecular Biology
 Evolutionary relationships among species are reflected in
their DNA and proteins .
 Provides strong evidence in support of evolution.
Examples
 Same triplet code
 Same twenty amino acids in proteins.
 Cytochrome ‘c’, a respiratory protein, is found in all aerobic
species.
 BASIC TERMS
 Gene
 Locus
 Allele
 Dominant Allele
 Recessive Allele
 Gene Pool
 Phenotype
 Genotype
 Homozygous
 Heterozygous
 MENDELIAN INHERITANCE
 He performed
hybridization
Selection of Pea Plant
 Easy to cultivate
 Flowers were
hermaphrodite
 Short generation time
 Sharply distinct traits
and each trait had two
clear
LAW OF SEGREGATION/INHERITANCE OF
SINGLE TRAIT
Statement
Monohybrid Cross
Interpretations of
Results
Each contrasting form
(phenotype) of a trait,
e.g.,
yellow or green colors
of seed was determined
by particulate
hereditary factors,
\ which he called
“elementens”
(now called
genes)
 MENDELIAN INHERITANCE
Phenotypic and Genotypic Expressions
 Phenotype ratio of F2 generation is 3:1.
 Genotype ratio of F2 generation is 1:2:1.
Test Cross
 An individual of dominant phenotype is crossed with
an individual showing its recessive phenotype
Significance
 Finds out the homozygous or heterozygous nature of
the genotype
LAW OF INDEPENDENT ASSORTMENT/INHEROTANCE
OF TWO TRIATS
Statement
 ‘When two contrasting
pairs of traits are followed
in the same cross, their
alleles assort
independently into
gametes’.
Dihybrid
 The two of the seven
characters Mendel studied
were seed color and shape
LAW OF INDEPENDENT ASSORTMENT/INHEROTANCE
OF TWO TRIATS
Interpretation of the Results
 F1 can produce gametes, e.g., RY, Ry, rY, ry, in equal ratio
 9:3:3:1.
Limitations of Law of Independent Assortment
 Independent assortment of genes depends upon
independent assortment of their chromosomes
 Gene linked on homologous pair
 Alleles assort independently whose alleles are riding non-
homologous chromosomes.
Usefulness of law of independent assortment
Scope of independent assortment in variation
Probability and Product Rule
Probability and Product Rule
Event No.1 Event No.2 Both Events at a Time

Seed Shape Seed Colour Seed Shape & Colour

Independent Independent Joint Probability

Probability Probability

Round = 3/4 Yellow = 3/4 Round Yellow = 3/4 x 3/4 =

9/16

Round = 3/4 Green = 1/4 Round Green = 3/4 x 1/4 = 3/16

Wrinkled = Yellow = 3/4 Wrinkled Yellow = 1/4 x 3/4 =

1/4 3/16
MULTIPLE ALLELES AND ABO BLOOD
GROUP SYSTEM
Multiple Alleles
 Gene mutations may produce many different alleles
ABO Blood Group System
 Single polymorphic gene ‘I’ (which stands for
isohaemagglutinogen) which is located on chromosome
9. It has three multiple alleles ‘IA’, ‘IB’ and ‘i’.
Phenotypes & Genotypes
MULTIPLE ALLELES AND ABO BLOOD
GROUP SYSTEM
Multiple Alleles
 Gene mutations may produce many different alleles
Blood Genotype Antigen Antibodies Donated To Receive

Group from
Anti-B A, AB A, O
A I I ,I i
A A A
A
antibody
Anti-A
B I BI B, I Bi B B, AB B, O
antibody
A, B, AB,
AB I I
A B
A& B None AB
O
Both
O ii None Anti-A & anti- A, B, AB, O O
 Rh BLOOD GROUP SYSTEM AND
ERYTHROBLASTOSIS FOETALIS
Rh Blood Group System
 Rh factor, which is present on the surface of RBCs
 Three genes e.g., C, D, E, which occupy two tightly linked loci
 Allele D’ is completely dominant over ‘allele d’
Rh-antiserum during early pregnancy and immediately after birth

Phenotype/ Rh-Factor/ Genotype Anti Rh Can Donate Can

Blood Group Antigen D Antibodies To Receiv

e From
Rh+ve Present DD, Dd Not Rh+ve Rh+ve,

produced Rh-ve
Rh-ve Absent dd Produced (If Rh+ve, Rh-ve Rh-ve

stimulated)
Erythroblastosis Foetalis
GENE LINKAGE AND CROSSING OVER
Gene Linkage
 Staying together of all the genes of a chromosome
 Man has 23 linkage groups
Types of Gene Linkage
i. Autosomal linkage
ii. Sex Linkage
Gene Linkage can be
Detected by performing
a test cross between
two gene pairs
GENE LINKAGE AND CROSSING OVER
 If all four phenotypic combinations are in equal 1:1:1:1
ratio, then there would be no linkage between the genes.
 Incomplete or partial linkage
 Complete or tight linkage
Examples
 Genes for color blindness, haemophilia, and gout etc.
form one linkage group on human X-chromosome.
 Gene for sickle cell anaemia, leukemia and albinism etc.
form linkage group on human chromosome 11
Crossing Over
 Non-sister chromatids of homologous chromosomes
during meiosis
 Linked genes can be separated by crossing over
GENE LINKAGE AND CROSSING OVER
Recombination Frequency
 Recombination frequencies between two linked genes
can be calculated by backcrossing the heterozygote to
a homozygote double recessive.
 Directly proportional to distance between the linked
gene loci.
 Genes can be mapped on a chromosome on the basis
of their recombination frequencies
 SEX LINKAGE IN DROSOPHILA
Morgan’s Experiments and Crosses
Step 1: Normal Cross
 Morgan concluded that red eye is dominant trait
Step 2: Normal Cross
Observations
 Crossed in white eye males and red eye female.
 The proportion of 3470 red eyed to 782 white eyed flies did not
perfectly fit into Mendelian 3:1 ratio.
 The number of recessive phenotype individuals were too small.
 All the white-eye flies were only males. There was no white eye
female in F2.
Conclusion
 Gene for eye color is located on X-chromosome
Step 3: Test Cross
Step 4: Reciprocal Cross/ Confirmatory Test
 SEX LINKAGE IN HUMANS
 X-linked recessive traits (zigzag path )
 X-linked dominant trait(straight way)
 Y-linked traits or holandric trait
 Hypertrichosis, porcupine, and webbing of toes
 Pseudoautosomal traits
 Pedigree
Haemophilia
 Blood fails to clot properly after an injury
Type Occurrence Factor Genetics
A 80% VIII X-linked recessive
B 20% IX X-linked recessive
C Less than 1% XI Autosomal recessive
 SEX LINKAGE IN HUMANS
 Haemophilia ‘A’ and ‘B’ are non-allelic recessive sex-
linked
 haemophilia ‘C’ is an autosomal recessive trait
(autosome 4).
Genetics of Haemophilia A

Gender Genotype Phenotype

XH XH Normal
Female XH Xh Normal but carrier
XhXh Haemophilic
XH Y Normal
Male
XhY Haemophilic
 SEX LINKAGE IN HUMANS
Color Blindness
 Person cannot differentiate between different colors
 Trichromatic color vision normal
 Gene for green and red opsins are x-linked recessive
 Gene for blue opsin are on autosome 7
Type Blindness Perception

Protanopia Red blindness Green, Blue

Deuteranopia Green blindness Red, Blue

Tritanopia Blue blindness Red, Green

Others Disorders
 Testicular feminization syndrome/androgen
insensitivity syndrome
 sex-limited trait
Sex influenced traits
Traits and Examples

Trait Example
X-linked recessive Hemophilia, colorblindness, testicular

feminization syndrome
X-linked dominant Hypophosphatemic or vitamin ‘D’ resistant rickets
Y- linked trait Maleness
Pseudoautosomal Bobbing in insects

trait
Sex limited trait Milk yield in cow, beard in man