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Chapter 5 - Biology for CBSE students of class XII

CHAPT ER 5 : PRINCIPLES OF INHERITANCE AND VARIAT ION Heredity is the transf er of character
f rom parents to their of f springs. T hese hereditary characters are present on the chromosomes in the
f orm of genes. T hese gene combinations express characters which may be more similar to one of its
two parents.
T he dif f erences in characters of of f spring mainly depend upon unique process of crossing over that
occurs during meiosis. T his is one of the main reasons of producing recombinations.
Gregor Johann Mendel was born in 1822 in Heinzendorf , which was a part of Czechoslovakia. He began
his genetic experiments on garden pea in 1856 in the garden at the monastery.
Selection of pea plant: T he main reasons f or adopting garden pea (Pisum sativum) f or experiments by
Mendel were
Pea has many distinct contrasting characters.
Lif e span of pea plant is short.
Flowers show self pollination, reproductive whorls being enclosed by corolla.
It is easy to artif icially cross pollinate the pea f lowers. T he hybrids thus produced were f ertile.

Working method: Mendels success was also due to his meticulous planning and method of work
He studied only one character at a time.
He used all available techniques to avoid cross pollination by undesirable pollen grains.
He applied mathematics and statistics to analyse the results obtained by him.

Mendels work and results:

T he results obtained by Mendel were studied and on their basis he proposed certain laws known as
Laws of heredity. T hese laws are discussed below:
1) Law of dominance:
T his law states that when two contrasting genes f or a character come together in an organism, only one
is expressed externally and shows visible ef f ect. It is called dominant and the other gene of the pair
which does not express and remains hidden is called recessive.
2) Law of segregation or Purity of gametes:
T his law states that both parental alleles (recessive and dominant) separate and are expressed
phenotypically in F2 generation. When F2 generation was produced by allowing F1 hybrid to self
pollinate, to f ind out segregation or separation it was observed that both dominant and recessive plants
appeared in 3:1 ratio.
3) Law of Independent assortment:
T he law of independent assortment states that when inheritance of two or more genes occur at one
time, their distribution in the gametes and in the progeny of subsequent generations is independent of
each other. To prove this, he did a dihybrid cross. He crossed homozygous dominant smooth and
yellow seeded (YYRR) with homozygous recessive wrinkled and green seeded (yyrr) plants. T he F1 hybrid
was self pollinated and F2 generation was obtained with the phenotypic ratio of 9:3:3:1 and genotypic
ratio of 1:2:1:2:4:2:1:2:1.
Test Cross:

Test Cross:
A cross between F1 hybrid (Aa) and its homozygous recessive parent (aa) is called Test Cross. T his
cross is called test cross because it helps to f ind out whether the given dominant phenotype is
homozygous or heterozygous.
Incomplete dominance:
When neither of the alleles of a character is completely dominant over the other and the F1 hybrid is
intermediate between the two parents, the phenomenon is called incomplete dominance.
T he most common example of incomplete dominance is that of f lower colour in 4O clock plant.
Homozygous red (RR) f lowered variety was crossed with white (rr) f lowered variety. F1 of f spring had
pink f lowers (Rr). T his is called incomplete dominance. Incomplete dominance is also known to occur in
snapdragon. T he phenotypic ratio and genotypic ratio in F2 generation in case of incomplete dominance
is 1:2:1.
Multiple Allelism / Codominance:
When a gene exists in more than two allelic f orms, it shows the phenomenon of multiple allelism. A well
known example is the inheritance of A, B and O blood groups in human being. T he gene f or blood group
occurs in three allelic f orms IA, IB and i. A person carries any two of these alleles. T he gene IA produces
glycoprotein (sugar) A and the blood group is A. T he gene IB produces glycoprotein B and the blood
group is B. T he gene i is unable to produce any glycoprotein and so the person homozygous f or it , has
O group blood. T he genes IA and IB are dominant over i. When IA and IB are present together, both
are equally dominant and produce glycoproteins A and B and the blood group is AB. T hey are called
codominant alleles.
Phenotypic (Blood group)
Genotype
A
IAIA / IA IO
B
IBIB / IB IO
AB
IAIB
O
IOIO (ii)
Chromosome theory of Inheritance:
Chromosome theory of inheritance was proposed by Sutton and Boveri independently in 1902. T he two
workers f ound a close similarity between the transmission of hereditary characters and behaviour of
chromosomes while passing f rom the one generation to the next through agency of gametes.
Salient features of chromosome theory:
Both chromosomes as well as genes occur in pairs in the somatic or diploid cells.
A gamete contains only one chromosome of a type and only one of the two alleles of a
character.
T he paired condition of both chromosomes as well as Mendelian f actors is restored during
f ertilization.

Parallelism of behaviour between chromosomes and Mendelian factors:

Both the chromosomes as well as Mendelian f actors (whether dominant or recessive) are
transmitted f rom generation to generation in an unaltered f orm.
A trait is represented by only one Mendelian f actor inside a gamete. A gamete similarly contains a
single chromosome out of a pair of homologous chromosomes due to meiosis that occurs bef ore
the f ormation of gametes.
An of f spring contains two chromosomes of each type, which are derived f rom the two parents
through their gametes that are involved in f usion and f ormation of zygote. It also contains two
Mendelian f actors f or each character. T he f actors come f rom two dif f erent parents through their
gametes.

Linkage and Recombination:

Linkage is the phenomenon, where two or more linked genes are always inherited together and their
recombination f requency in a test cross progeny is less than 50%.
A pair of genes may be identif ied as linked, if their recombination f requency in a test cross progeny is
lower than 50 percent. All the genes present on one chromosome f orm a linkage group and an organism
possesses as many linkage groups as its haploid number of chromosomes. If the two genes are f ully
linked, their recombination f requency will be 0%.
Sex Determination by chromosomes:
T hose chromosomes which are involved in the determination of sex of an individual are called sex
chromosomes while the other chromosomes are called autosomes.
1) XX XY type: In most insects including f ruit f ly Drosophila and mammals including human beings the
f emales possess two homomorphic sex chromosomes, named XX. T he males contain two
heteromorphic sex chromosomes, i.e., XY. Hence the males produce two types of gametes / sperms,
either with X-chromosome or with Y-chromosome, so they are called Heterogamety.
2) Z Z Z W type: In birds and some reptiles, the males are represented as Z Z (homogamety) and
f emales are Z W (heterogamety).
3) XX XO type: In round worms and some insects, the f emales have two sex chromosomes, XX, while
the males have only one sex chromosomes X. T here is no second sex chromosome. T heref ore, the
males are designated as XO. T he f emales are homogametic because they produce only one type of
eggs. T he males are heterogametic with half the male gametes carrying X-chromosome while the other
half being devoid of it.
Sex determination in Humans:
Human beings have 22 pairs of autosomes and one pair of sex chromosomes. All the ova f ormed by
f emale are similar in their chromosome type (22+X). T heref ore, f emales are homogametic. T he male
gametes or sperms produced by human males are of two types, (22+X) and (22+Y). Human males are
theref ore, heterogametic. T he two sexes produced in the progeny is 50:50 ratio.
Mutation:
It is a phenomenon which results in alteration of DNA sequences and consequently results in changes in
the genotype and phenotype of an organism.
Gene / Point mutation:
Due to change in a single base pair of DNA. Ex. Sickle cell anemia (GAGGUG).
Chromosomal mutation:
Due to change in structure or number of chromosomes. Ex. Downs syndrome.
Mutagens:
T he chemical and physical f actors that induce mutations are known as Mutagens. Ex. UV rays.
Genetic Disorders:
Pedigree analysis: It is a system to analyse the distribution and movement of characters in the f amily
tree.
Mendelian Disorders:
T hese are mainly determined by alteration or mutation in the single gene. T hese disorders are
transmitted to the of f spring on the same line as the principle of inheritance.
Examples : Haemophilia, Cystic f ibrosis, Sickle cell anemia, Colour blindness, Phenylketonuria,
T halesemia, etc.
Haemophilia:

It is a sex linked recessive disease, which shows its transmission f rom unaf f ected carrier mother to
some of the male progeny. Haemophilia is a disorder in which a vital f actor f or clotting of blood is
lacking. So clotting of blood is abnormally delayed and it can be f atal. Bleeding can be checked by
transf usion of the entire volume of blood or the clotting f actor in concentrated f orm.
Sickle cell anemia:
It is an autosome linked recessive trait. It is due to a mutant allele on chromosome 11 (autosome), that
causes change of glutamine (GAG) to valine (GUG) at the sixth position of -chain of haemoglobin.
T he disease is controlled by a single pair of allele, HbA HbA (normal) ; HbA HbS (carrier) and HbS HbS
(diseased). T he patient has sickle shaped RBCs with def ective haemoglobin. T hey are destroyed more
rapidly than normal RBCs.
Phenylketonuria:
It is due to a recessive mutant allele on chromosome 12 (autosome). T he af f ected individual lacks an
enzyme (phenylalanine hydroxylase) that converts the amino acid phenylalanine into tyrosine. As a
result, this phenylalanine and its derivatives accumulate in the cerebrospinal f luid leading to mental
degeneration (retardation) and are excreted in the urine due to its poor absorption by kidney.
Chromosomal Disorders: Due to absence or excess or abnormal arrangement of one or more
chromosomes.
A change in the number of chromosomes in an organism arises due to non-disjunction of chromosomes,
during gamete f ormation.
Aneuploidy: T his arises due to loss or gain of one or more chromosomes during gamete f ormation.
Example: Downs syndrome (47) and Turners syndrome (45).
Polyploidy: In this, the number of chromosomes is the multiple of the number of chromosomes in a
single set (haploid). Accordingly, these may be haploid, diploid and polyploid.
Downs Syndrome: It was f irst described by Langdon Down (1866). It is due to trisomy of 21st
chromosome, arising f rom non-disjunction of chromosomes during gamete f ormation. As the maternal
age increases, the instances of non-disjuction increase. When such an ovum containing two 21st
chromosomes (24) is f ertilized by a normal sperm (23), the zygote (47) comes to possess three copies
of 21st chromosome.
Symptoms: Short statured with small round mouth, palm is broad with characteristic palm crease,
physical, psychomotor and mental development is retarded.
Klinefelter s syndrome: It arises due to non-disjunction of X-chromosomes during ova f ormation.
When an ovum containing two X-chromosomes is f ertilized by a Y-carrying sperm, XXY individual (47)
appears.
Symptoms: A male with underdeveloped breasts (gynaecomastia), sparse body hair, mentally retarded
and sterile.
Turner s Syndrome: It arises due to non-disjunction of X-chromosomes during ova f ormation. When
an ovum carrying no X-chromosome is f ertilized by a sperm carrying X- chromosome, a zygote with XO
appears.
Symptoms: A f emale with rudimentary ovaries, short stature, lack of secondary sexual characters, they
are sterile.
IMPORTANT T ERMS:
1. Heredity: - It can be def ined as the transmission of characters f rom one generation to successive
generations of living organisms.
2. Alleles: - T he various f orms of a gene are called alleles.
3. Phenotype: - T he external / observable characteristics of an organism constitute its phenotype.

4. Genotype: - T he genetic constitution of an organism is its genotype.

5. Homozygote: - It is an individual organism in which the members of a pair of alleles f or a character
are similar.
6. Heterozygote: - It is an individual organism in which the members of a pair of alleles of a character
are dif f erent.
7. Dominant character: - T he f orm of the character which is expressed in the F1 hybrid is called
dominant character.
8. Recessive character: - T he f orm of the character which is suppressed in the presence of the
dominant character in a hybrid is called recessive character.
9. Monohybrid cross: - It is a cross between individuals of the same species, in which the inheritance
of contrasting pairs of a single trait is considered.
10. Dihybrid cross: - It is a cross between two individuals of the same species, in which the inheritance
of contrasting pairs of two traits is considered.

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CHAPTER 6 : MOLECULAR BASIS OF INHERITANCE

Structure of DNA:
Watson and Crick proposed a double helical model f or DNA, based on X-ray crystallography of the
molecule. Each strand (helix) is a polymer of nucleotides, each nucleotide consisting of a deoxyribose
sugar, a nitrogen base and a phosphate. T he sugar phosphate chain is on the outside and act as back
bone and the bases are on the inside (like in ladder). T he two strands are held together by weak
hydrogen bonds between the nitrogen bases. A purine base, always pairs with a pyrimidine base, i.e.,
adenine (A) pairs with thymine (T ) and guanine (G) pairs with cytosine (C). So the two strands are
complementary to each other and run in antiparallel direction with one chain having 5 3 orientation and
the other having a 3 5 orientation. T he purine and pyrimidine bases are stacked 0.34 nm apart in the
chain and the helix makes a turn af ter ten base pairs, i.e., 3.4 nm.
Central dogma of molecular biology:
Crick proposed the Central dogma in molecular biology, which states that the genetic inf ormation f lows
f rom DNA RNA Protein. In some viruses like retroviruses, the f low of inf ormation is in reverse
direction, that is f rom RNA DNA mRNA Protein.
Packaging of DNA helix:
In prokaryotes, negatively charged DNA is held with some positively charged proteins and f orm as
nucleoid.
In eukaryotes, negatively charged DNA is held with positively charged proteins called Histones (octomer)
and f orm a structure called Nucleosome.
T he search for Genetic Material:
1. Bacterial Transformation (Transforming Principle) :
Fredrick Grif f ith conducted his experiment on Streptococcus pneumoniae, the pneumonia causing
bacterium. He observed that there are two strains of this bacterium, one f orming smooth colonies (Stype) with capsule (virulent) and the other f orming rough colonies (R type) without capsule (avirulent).
Experiment:
a)
Smooth type bacteria were injected into mice. T hese mice died as a result of pneumonia caused
by bacteria.
b)

Rough type bacteria were injected into mice. T hese mice lived and pneumonia was not produced.

c)
Smooth type bacteria which normally cause disease were heat killed and then injected into the
mice. T he mice lived and pneumonia was not caused.
d)
Rough type bacteria (living) and heat killed S-type were injected together into mice. T he mice died
due to pneumonia and virulent smooth type living bacteria could also be recovered f rom their bodies.
T his indicates that some f actor f rom the dead S-cells converted the live R-cells into S-cells
(transf ormation).
Later Avery, MacLeod and McCarty (1944) f ound out that when DNA isolated f rom the heat killed S-cells
was added to R-cells in a culture, the R-cells changed into S-cells and pathogenic.
Evidence from experiments with bacteriophage:
T his experiment was devised by Hershey and Chase with two dif f erent preparations of T 2 phage. In one
preparation, the protein part was made radioactive and in the other, nucleic acid (DNA) was made

radioactive. T hese two phage preparations were allowed to inf ect the culture of E.coli. Soon af ter
inf ection, bef ore lysis of cells, the E.coli cells were gently agitated in a blender, to loosen the adhering
phage particles and the culture was centrif uged. T he heavier inf ected bacterial cells pelleted to the
bottom and the lighter viral particles were present in the supernatant. It was f ound that when T 2 phage
containing radioactive DNA was used to inf ect E.coli, the pellet contained radioactivity. If T 2phage
containing radioactive protein coat was used to inf ect E.coli, the supernatant contained most of the
radioactivity. T his suggests that during inf ection by the virus, the viral DNA enters the bacterial cell and
that has the inf ormation f or the production of more viral particles. It proves that DNA and not proteins,
is the genetic material in bacteriophage.
Properties of Genetic Material:
a)
It should be able to generate its replica (replication)
b)

It should chemically and structurally be stable.

c)

It should provide the scope f or slow changes (mutation) that are required f or evolution.

d)

It should be able to express itself in the f orm of Mendelian Characters.

Replication:
T he Watson Crick model of DNA immediately suggested that the two strands of DNA should separate.
Each separated or parent strand now serves as a template (model) f or the f ormation of a new but
complementary strand. T hus, the new or daughter DNA molecules f ormed would be made of one old or
parental strand and another newly f ormed complementary strand. T his method of f ormation of new
daughter DNA molecules is called semi-conservative method of replication.
T he Experimental Proof:
Meselson and Stahl conducted an experiment to prove that DNA replication is semi conservative. T hey
grew bacterium E. coli in a medium containing nitrogen salts (15NH4Cl) labeled with radioactive 15N.
15N was incorporated into both the strands of DNA and such a DNA was heavier than the DNA obtained
f rom E.coli grown on a medium containing 14N. T hen they transf erred the E.coli cells on to a medium
containing 14N. Af ter one generation, when one bacterial cell has multiplied into two, they isolated the
DNA and evaluated its density. Its density was intermediate between that of the heavier 15N-DNA and
the lighter 14N-DNA. T his is because during replication, new DNA molecule with one 15N-old strand and
a complementary 14N-new strand was f ormed (semi-conservative replication) and so its density is
intermediate between the two.
Mechanism of DNA replication :
T he intertwined DNA strands start separating f rom a particular point called origin of replication (single in
prokaryotes and many in eukaryotes). T his unwinding is catalysed by enzymes called Helicases.
Enzymes called Topoisomerases break and reseal one of the strands of DNA, so that the unwound
strands will not wind back. When the double stranded DNA is unwound upto a point, it shows a Y-shaped
structure called Replication Fork. Enzyme DNA dependent DNA polymerase catalyses the joining of
Deoxyribonucleotides (A, G, C and T ) in the 5 3 direction. T he enzyme f orms one new strand in a
continuous stretch (leading strand) in the 5 3 direction, on one of the template strands. On the other
template strand, the enzyme f orms short stretches (discontinuous) strand of DNA also in the 5 3. T he
discontinuous f ragments are later joined by DNA-ligase to f orm a leading strand. T he two strands are
held together by hydrogen bonds between nucleotides.
Transcription:
Transcription is the process by which DNA gives rise to RNA. It can also be def ined as, the process of
copying genetic inf ormation f rom one strand of the DNA into RNA is termed as Transcription.
Transcription Unit:
A transcription unit in DNA is def ined primarily by the three regions in the DNA;
A Promoter
T he Structural gene

A Terminator

Mechanism of Transcription:
Transcription involves the binding of RNA-polymerase at the promoter site on DNA. As it moves along
(through structural gene), the DNA unwinds and one of the two strands acts as template to synthesize a
meaningf ul RNA and other strand act as non-coding. A complementary RNA strand is synthesized with A,
U, C and G as bases. RNA synthesis is terminated when the RNA-polymerase f alls of f a Terminator
sequence on the DNA.
Transcription Unit and the Gene:
A gene is def ined as the f unctional unit of inheritance. In eukaryotes, DNA consists of both coding and
non-coding sequences of nucleotides. T he coding sequences / expressed sequences are def ined as
Exons. Exons are said to be those sequence that appear in mature / processed RNA. T hese exons are
interrupted by non-coding sequences called Introns. T hese introns do not appear in mature RNA.
Types of RNA:
In prokaryotes, a single RNA polymerase enzyme (composed of dif f erent subunits) catalyses the
synthesis of all types of RNA(mRNA, tRNA and rRNA) in bacteria.
Where as in eukaryotes, there are three dif f erent RNA polymerase enzymes I, II and III, they catalyse the
synthesis of all types of RNA.
RNA polymerase I

rRNAs

RNA polymerase II - mRNA

RNA polymerase III tRNA
Process of transcription in Prokaryotes:
RNA polymerase binds to promoter and initiates transcription. RNA polymerase associates with initiation
f actor and termination f actor to initiate and terminate the transcription respectively. In prokaryotes,
since the mRNA does not require any processing, the transcription and translation take place in the same
compartment and can be coupled.
Process of transcription in Eukaryotes:
In eukaryotes, the primary RNA contains both the exons and introns and is non-f unctional. Hence, these
non-coding introns will be removed by the process called Splicing. T hen this mature RNA undergoes
Capping (addition of unusual nucleotide methyl guanosine triphosphate at 5 end) and Tailing (addition
of adenylate residues at 3 end). Now, this f ully matured RNA will be transported out of the nucleus f or
translation.
Genetic Code:
Genetic code ref ers to the relationship between the sequence of nucleotides (nitrogen bases) on mRNA
and the sequence of amino acids in proteins. Each code is known as Codon with three nucleotides
(triplet). It has been deciphered by Nirenberg, Khorana, Severo Ochoa and Crick.
Salient f eatures of Genetic code:
T he codon is triplet. 61 codons code f or 20 dif f erent amino acids and 3 codons do not code f or
any amino acids, hence they f unction as Stop codons (UAG, UGA and UAA).
One codon codes f or only one amino acid, hence, it is unambiguous and specif ic.
Some amino acids are coded by more than one codon, hence the code is degenerate.
T he codon is read in mRNA in a contiguous f ashion. T here are no punctuations.
T he code is nearly universal. For example, f rom bacteria to human, UUU would code f or
Phenylalanine (phe) amino acid.
AUG has dual f unction. It codes f or Methionine (met), and it also act as Initiator codon.

Mutations and Genetic Code:

Mutation caused due to insertion / deletion of single base pair is known as Point mutation. Ef f ect of
point mutations that inserts or deletes a base in structural gene can be better understood by f ollowing
simple example;
Consider a statement that is made up of the f ollowing words each having three letters like genetic code;
RAM

HAS

RED

CAP

If we insert a letter B in between HAS and RED and rearrange the statement, it would read as f ollows;
RAM

HAS

BRE

DCA

Similarly, if we now insert two letters at the same place, say BI. Now it would read,
RAM

HAS

BIR

EDC

AP

Now we insert three letters together, say BIG, the statement would read,
RAM

HAS

BIG

RED

CAP

T he conclusion is, insertion or deletion of one or two bases changes the reading f rame f rom the point
of insertion or deletion. Insertion or deletion of three or its multiple bases insert or delete one or
multiple codon hence one or multiple amino acids, and reading f rame remains unaltered f rom that point
onwards. Such mutations are ref erred to as Frame-shift insertion or deletion mutations.
Structure of t-RNA : T he Adapter Molecule:
tRNA molecule appears like a clover leaf , but in actual structure, the tRNA is a compact molecule which
looks like inverted L.
tRNA has three loops,
a)

an anticodon loop that has bases complementary to the codon.

b)

An amino acid accepter end to which it binds to amino acids.

c)

Ribosomal binding loop.

tRNAs are specif ic f or each amino acid. T here are no tRNAs f or stop codons.
Translation: It ref ers to the process of polymerization of amino acids to f orm a polypeptide. T he order
and sequence of amino acids are def ined by the sequence of bases in the mRNA. T he amino acids are
joined by a bond which is known as a peptide bond.
It involves f our steps namely
Activation of amino acids (charging of tRNA / aminoacylation of tRNA)
Initiation of polypeptide synthesis
Elongation of polypeptide synthesis
Termination of polypeptide synthesis

a)
Activation of amino acids: In this process, a particular amino acid binds to a specif ic tRNA
molecule.
b)
Initiation of polypeptide chain: T he initiator methionyl-tRNA charged with amino acid methionine and
anticodon UAC interacts with the initiation codon by codon-anticodon interaction. With the initiator
methionyl-tRNA at P site, the larger subunit binds to the smaller subunit, thus f orming an initiation

complex.
c)
Elongation of polypeptide chain: A second tRNA charged with an appropriate amino acid enters the
ribosome at the A site, close to the P site. A peptide bond is f ormed between the f irst amino acid and the
second amino acid. T hen the f irst tRNA is removed f rom the P-site and the second tRNA at the A site,
now carrying a dipeptide, is pulled along with mRNA to the P-site (translocation). Now the A-site is
occupied by a third codon and an appropriate aminoacyl tRNA will bind to it. T his process of peptide
bond f ormation and translocation will be repeated and the polypeptide chain grows in length.
d)
Termination of polypeptide chain: When untranslated regions / termination codons come at the Asite, no amino acid would be added, as it is not recognized by any tRNA. So protein synthesis will stop.
At the end, a release f actor binds to the stop codon, terminating translation and releasing the complete
polypeptide f rom the ribosome.
Regulation of Gene Expression:
All the genes are not needed constantly. T he genes needed only sometimes are called regulatory genes
and are made to f unction only when required and remain non-f unctional at other times. Such regulated
genes, theref ore required to be switched on or of f when a particular f unction is to begin or stop.
T he Lac operon:
Jacob and Monod (1961) proposed a model of gene regulation, known as operon model.
Operon is a co-ordinated group of genes such as structural genes, operator genes, promoter genes,
regulater genes and repressor which f unction or transcribed together and regulate a metabolic pathway
as a unit.
T here are three structural genes, lac Z , lac Y and lac A, coding f or galactosidase, permease
and transacetylase respectively. T hese three genes are controlled by a single switch called operator.
T he operator switch is controlled by the repressor protein which coded by the regulator gene.
When the repressor binds to the operator, the genes are not expressed (switched of f ). When
the operator switch is on, the three structural genes transcribe a long polycistronic mRNA catalysed by
RNA polymerase.
A f ew molecules of lactose (inducer) enter the cell by the action o enzyme permease. T hey are
converted into an active f orm of lactose which binds to the repressor and changes its conf iguration and
prevents it f rom binding to the operator. Beta-galactosidase breaks lactose into glucose and galactose.
(Fig. Text book p.117).
Human Genome Project:
Goals of HGP:
Identif y all the approximately 20,000-25,000 genes in human DNA;
Determine the sequences of the 3 billion chemical base pairs that make up human DNA
Store this inf ormation in databases;
Improve tools f or data analysis;
Transf er related technologies to other sectors, such as industries.

Methodologies:
T he methods involved two major approaches. One approach f ocused on identif ying all the genes that
expressed as RNA ref erred as Expressed Sequence Tags (ESTs). T he other approach is blind approach
of simply sequencing the whole set of genome that contained all the coding and non-coding sequence,
and later assigning dif f erent regions in the sequence with f unctions, ref erred as Sequence Annotation.
Steps involved in sequencing:

a)

Isolation of total DNA f rom a cell and converted into random f ragments.

b)
Cloning of DNA f ragments can be perf ormed by using cloning vectors like BAC (Bacterial Artif icial
chromosomes) and YAC (yeast artif icial chromosomes).
c)
T he f ragments were sequenced using automated DNA sequencers that worked on the principle of
a method developed by Frederick Sanger.
d)

T hese sequences were then arranged based on some overlapping regions present in them.

Salient features of Human Genome:

a)
T he human genome contains 3164.7 million nucleotide bases.
b)
T he average gene consists of 3000 bases, but sizes vary greatly, with the largest known human
gene being dystrophin at 2.4 million bases.
c)

Less than 2 per cent of the genome codes f or proteins.

d)

Repeated sequences make up very large portion of the human genome.

e)
Repetitive sequences are stretches of DNA sequences that are repeated many times, sometimes
hundred to thousand times.
f)

Chromosome 1 has most genes (2968), and the Y has the f ewest (231).

g)
Scientists have identif ied about 1.4 million locations where single base DNA dif f erences (SNPs
single nucleotide polymorphism) occur in humans.
DNA Fingerprinting:
DNA f ingerprinting involves identif ying dif f erences in some specif ic regions in DNA sequence called as
repetitive DNA, because in these sequences, a small stretch of DNA is repeated many times. T hese
repetitive DNA are separated f rom bulk genomic DNA as dif f erent peaks during density gradient
centrif ugation. T he bulk DNA f orms a major peak and the other small peaks are ref erred to as satellite
DNA. T hese sequence show high degree of polymorphism (variation at genetic level) and f orm the basis
of DNA f ingerprinting.
Polymorphism can be def ined as, an inheritable mutation is observed in a population at high
f requency, it is ref erred to as DNA polymorphism.
T he technique of DNA f ingerprinting was initially developed by Alec Jef f reys. He used a
satellite DNA as probe that shows very high degree of polymorphism. It was called Variable Number of
Tandem Repeats (VNT Rs).

Mechanism of DNA fingerprinting :

Extraction: DNA is extracted f rom the small amounts of blood, semen or hair bulbs available.
Amplification: Many copies of this DNA are made by a technique called Polymerase Chain Reaction
(PCR).
Restriction Digestion: DNA is cut into desired reproducible segments using restriction enzymes.
Separation: T hese DNA sequences (restriction f ragments) are separated by Gel Electrophoresis.
Southern Blotting: T he separated DNA sequences are transf erred f rom Gel onto a nitrocellulose
membrane.
Hybridisation with probe, the DNA sequence complementary to VNT R sequences.
Exposure of the membrane to X-ray f ilm, whose specif ic bands are developed.

Applications:
It is used ef f ectively in f orensic science f or identif ying;
a)

the biological f ather (in case of paternity disparity)

b)

the criminals such as murderers and rapists.

rajkum arbio lo gy.we e bly.co m

http://rajkumarbio lo gy.weebly.co m/chapter-7.html

CHAPTER 7 : EVOLUTION
T heory of Special Creation:
According to this theory, lif e originated on this earth f rom super
natural powers like god. He created all plants and animals, which appeared on earth in the f orm they
exist today.
T heory of Spontaneous generation or Abiogenesis:
According to this theory lif e originated on earth f rom non-living objects spontaneously by a process
called Abiogenesis (origin of lif e f rom non-living matter). It was believed that f ishes and f rogs originated
f rom mud, maggots arouse f rom decaying meat and insects f rom plant juices and microorganisms f rom
air & water. But later Louis Pasteur disproved this theory and stated that lif e originate f rom pre-existing
lif e.
Conditions of Primitive earth/ Origin of life:
It is believed that earth has originated about 4,600 million years ago. It is f ormed by the condensation
and cooling f rom a cloud of gases and dust. At f irst the earth was very hot and had various gases and
vapour of several elements. With the passage of time, the earth gradually cooled down and gases
condensed. T hus a solid crust of earth was f ormed. T here were torrential rains f or thousands of years
resulting in the f ormation of large water bodies like oceans.
T he earths atmosphere at the time was a reducing atmosphere and not an oxidizing one as today.
T here were large quantities of hydrogen, nitrogen, water vapour, carbon monoxide, methane and
ammonia in the primitive atmosphere. However, f ree oxygen was not present, so the atmosphere is
known as reducing atmosphere and this led to the continuous series of chemical reactions among the
gases to f orm amino acids. Hence lif e originates f rom reducing atmosphere.
T he present atmosphere is oxidizing one and no lif e is originating today because oxygen will not allow
any continuous series of chemical reaction and if any product is f ormed among the gases that will be
oxidized.
A.I. Oparin and J.B.S. Haldane believed that methane, ammonia and water vapours contain the kinds of
atoms needed to f orm various substances such as alcohol and amino acids. Accumulation of such
organic compounds within the oceans, lakes, ponds, pools, etc. over million of years must have
produced a kind of hot soup. In this hot soup or Darwins warm little pond smaller organic compounds
must have combined together to f orm larger organic compounds and various macromolecules like
polypeptides, proteins, nucleic acids, carbohydrates etc. T hese compounds then interacted to produce
the f irst living cell. So according to them, the f irst living cell arose f rom simple inorganic and organic nonliving elements a process called Abiogenesis.
T he energy f or such chemical reactions must have come f rom the heat of the atmosphere and f rom the
electrical energy of lightening.
T he most important compound that initially f ormed is a nucleoprotein (nucleic acid and protein) since it is
the chemical characteristic of genes. T hey might have aggregated in various combinations and must
have f ormed the colloidal masses at the base of oceans. T hey f ormed the small globules. T hey are then
covered by f atty acids to f orm their surf ace membranes. T his membrane also became selectively
permeable so a specif ic organization inside was maintained. Experimental evidences have also shown
that such types of cells f ormed are called as coacervates (pre-cell) and then they gradually transf ormed
into a living cell.
T hen enzymes and other important compounds inside were f ormed. In the present day cells, all these
macromolecules are f ormed by the actions of enzymes. But the enzymes are protein in nature. So

initially all macromolecules were f ormed by non-enzymatic actions.

Urey and Miller experiment:
Stanley Miller and Harold C. Urey in 1953 tested the Oparin-Haldane theory. T hey made an apparatus to
circulate methane, ammonia, water vapour and hydrogen gases. All these gases were put in a f lask f itted
with electrodes. In another f lask, water was being boiled continuously. T he electrical charges, to provide
energy similar to lightening etc. were passed f or one week or more. Af ter that they collected and
analysed the contents of the apparatus. He was able to get a number of amino acids, some of which are
known to be present in the proteins e.g., glycine, alanine, aspartic acid and glutamic acid. Miller also got
several of the simple acids that are known to occur in the living organisms such f ormic acid, acetic acid,
propionic acid, lactic acid and succinic acid.
Hence they proved the Oparin and Haldane theory and now it is clear that reducing atmosphere was
essential f or such abiotic synthesis.
Organic evolution:
It is def ined as the process of gradual and orderly changes in organisms f rom one f orm to another over
a period of millions of years. It is a slow and continuous process.
Morphological Evidences:
Homologous organs (Divergent Evolution):
Organs having similar embryonic origin and basic plan, but dif f ering in their f unctions are known as
homologous organs. E.g., T he arm of man, the leg of a horse, the wing of a bat, the wing of a bird and
the f lippers of a seal have the same basic plan of development but they are used f or dif f erent works. All
of them possess humerus in upper arm, radius and ulna in the f orearm, carpals in the wrist, metacarpals
in the palm and phalanges in digits. T hey also show similarities in the arrangement of the muscles and
nerves and also show same pattern of embryonic development.
Homology in plants:
In plants, the homologous organs are a thorn of Bougainvillea and a tendril in Cucurbita both arising in
the axillary position, but perf orm dif f erent f unctions. T horn f or protection and tendril f or support.
Analogous organs (Convergent Evolution):
Organs having similar f unctions but dif f erent in their basic plan of development are known as analogous
organs. For example, the wing of insects and that of birds or bats are analogous structure. T heir basic
plan of development is dif f erent but has a similar f unction of f lying. In insects wing is an extension of
the integument whereas a birds wing is f ormed of bones covered with f lesh, skin and f eathers.
In plants:
In Opuntia/Cactus, a stem is modif ied to look like a leaf and may perf orm the f unction of a leaf
(photosynthesis).
In potato and sweet potato, potato is a stem tuber and sweet potato is a root tuber. Storage of
f ood is the same f unction.

Geological time scale: It shows the ages of the various eras and periods together with the major
groups of plants and animals that are believed to have existed during that period. It helps in the study of
palaeontology.
It has been divided into 6 eras which are f urther divided into periods or epochs. Each being characterised
by some specif ic living f orms and climatic changes geological time scale is the calender of earth past
history indicating the evolution of lif e through time recorded in sequence of rocks.
Biological Evolution:
T he essence of Darwinian theory about evolution is natural selection. Branching descent and natural
selection are the two key concepts of Darwinian T heory of Evolution.
Lamarcks concept of evolution/Inheritance of acquired characters:
T his theory states that characters are acquired by animals in two ways,

1. T he ef f ects of environment
2. Use and disuse of body parts.
For example, the long neck of giraf f e is explained by Lamarck on the same principle. Giraf f e, which lived
in the dry and arid deserts of Af rica, tried to reach the f oliage high up on the trees to eat them as there
was no vegetation on the ground. In the process its neck and f orelegs got stretched a bit and this was
inherited to the next generation. T hen in the next generation same ef f orts were continued. Gradually
through many successive generations, we got giraf f e having such a long neck and f orelegs.
Lamarcks idea of the use and disuse of body parts and the inheritance of acquired characters
was not accepted by the scientists. It was disproved by August Wiesmann. He showed that even af ter
cutting the tail of rats f or several generations, no rat was born without a tail.
Darwins T heory:
Charles Darwin and Alf red Russel Wallace independently gave the theory of evolution. T his theory is
known as Darwins theory of natural selection and is published in a book, Origin of Species by Natural
Selection. T he main f eatures of this theory are as f ollows,
Reproduction: All organisms reproduce and multiply enormously. Eg. A pair of mice produces dozens of
young ones, insects lay thousands of eggs and plants also produce thousands of seeds.
Variations: No two individuals are alike. T hey dif f er f rom each other in size, shape, behaviour, etc. even
the of f spring of the same parent are never exactly alike except identical twins.
Struggle for existence: All the of f spring are not able to reach adulthood. When of f spring
become adulthood, then they start to reproduce. T his reproductive capacity varies f rom animal to
animal; some reproduce more and some minimum. T his dif f erential capacity of reproduction is known as
differential reproduction.
Since the number of individuals is f ar more than actually can survive, so they compete among
themselves f or f ood, shelter and space.
Survival of fittest/ Natural selection: Only those individuals which have f avourable variations survive and
reproduce while others not suited by the environment perish away. T hus nature exercises its selection
and only those individuals that are f it to survive and reproduce successf ully.
Origin of Species/Speciation: T his continuous process of variation and natural selection will ultimately
result in elimination of certain individuals; while others will gradually establish. In this process new
characters, which are good, will set in. T hus new species may be produced in due course of time.
Mechanism of Evolution:
Hugo deVries believed that it is mutation which causes evolution and not the minor variations (heritable)
as Darwin said. Mutations are random and directionless while Darwinian variations are small and
directional. Evolution f or Darwin was gradual while deVries believed mutation caused speciation and
hence called it Saltation (single step large mutation).
Hardy-Weinberg Principle:
According to this law, if all the f actors / conditions remain constant, the f requency of particular
genes and their alleles will remain constant in a population of sexually reproducing organisms f rom
generation to generation.
T he dif f erence between the observed f requencies of alleles and those predicted by HardyWeinberg Principle indicates the degree of evolutionary change. Evolution occurs when the genetic
equilibrium is disturbed.

Factors affecting Hardy-Weinberg Equilibrium:

Gene migration / Gene f low

Genetic drif t
Mutation
Genetic recombination
Natural Selection

Examples of Natural Selection:

1.Industrial melanism.
A case of natural selection was seen in Great Britain in a peppered moth (Biston betularia). T his moth
had two f orms: grey colour and black colour (Carbonaria). In the early part of the nineteenth century only
the grey coloured f orms of moths were present; the dark f orms were rare. T he grey coloured moths
were seen on the tree trunks covered with lichens and so they were able to escape f rom their enemies.
Later on, due to the development of industries the lichens were killed and the tree trunks looked dark due
to the deposition of industrial soot. Birds, now were able to spot these moths and f eed upon them. So
the grey coloured moths were eaten by the birds and the dark coloured moths escaped f rom the birds.
T hen now the coal is replaced by the industries and oil and electricity is used. T his has reduced the soot
production and ultimately less deposition of soot on the tree trunks. T hese tree trunks have, now, again
become grey in colour. Consequently, grey coloured moths have again increased in number. T his
example clearly brings out the action of natural selection.
2.Resistanceof mosquitoes to pesticides.
When DDT was introduced to control mosquitoes it was tremendously successf ul. Most of the
mosquitoes were sensitive to DDT and were theref ore killed. In that population of mosquitoes, f ew
mosquitoes became resistant to DDT and survived. T hey multiplied and now almost total population of
mosquitoes became resistant to DDT.
Hence the principle of natural selection shows that the chemical insecticides can remain
ef f ective only f or a limited period.
Adaptive Radiation:
T he Process of evolution of dif f erent species in a given geographical area starting f rom a point and
literally radiating to other areas of geography (habitats) is called Adaptive radiation. Ex. Darwinian
Finches, Australian Marsupials.
A Brief Account of Evolution:
About 2000 million years ago the f irst cellular f orms of lif e appeared on earth. Some of these
cells had the ability to release O2.
Slowly single-celled organisms became multi-cellular f orms and by the time 500 mya,
invertebrates were f ormed and active.
Jawless f ish evolved around 350 mya.
Organisms started to invade f rom water to land. Fish with stout and strong f ins could move on
land and go back to water. T hese f ishes evolved into the f irst amphibians
Later, these amphibians evolved into reptiles. T hey lay shelled eggs. T hen reptiles of dif f erent
shapes and sizes dominated on earth (dinosaurs).
Some of the reptiles evolved into birds and later some of them to mammals. Mammals were
viviparous and more intelligent in sensing and avoiding danger at least.

Origin and Evolution of Man:

About 15 mya, primates called Dryopithecus and Ramapithecus were existing. T hey were hairy
and walked like gorillas and chimpanzees. Ramapithecus was more man like and Dryopithecus was
more ape-like.

Two mya, Australopithecines probably lived in East af trican grasslands. Evidence shows that
they hunted with stone weapons but essentially ate f ruits.
Fossils of f irst human like being the hominid were f ound and their brain capacity were between
650-800cc, they were called as Homo habilis. T hey did not eat meat.
Fossils discovered in Java 1891 revealed the next stage, i.e., Homo erectus about 1.5 mya and
had a large brain around 900 cc and they ate meat.
Neanderthal man with a brain size of 1400 cc. T hey used hides to protect their body and buried
their dead.
Homo sapiens arose in Af rica and moved across continents and developed into distinct races.
During ice age between 75,000-10,000 years ago modern Homo sapiens arose.