Wa0063.
Wa0063.
Primary Secondary
Here, immature lymphocytes differentiate Organs to which matured lymphocytes migrate interact
into antigen-sensitive lymphocytes. with antigens and then proliferate to become effector cells.
These include These include
Bone marrow - Spleen-
Thymus- Lymph nodes-
Primary lymphoid organs Secondary lymphoid organs
MALT –e.g.: Tonsils, Peyer’s patches, Appendix
Innate Acquired
Inborn Learned
Non-specific Pathogen specific
Immediate, maximum Lag time before max.
response secondary response
No built-up memory Immunological memory
i. Physical barriers
- Skin Active Passive
- Mucous coating
Immunity by antibodies that are Immunity gained by the body through
ii. Physiological barriers produced due to exposure to antigens direct transfer of readymade antibodies
- HCl in stomach
- Saliva
- Tears
Artificial Natural Artificial Natural
iii. Cellular barriers From Antiserum Maternal
By Vaccination By Infection
- PMNL/ neutrophil - Through Placenta
E.g.: Immunization
- Monocytes E.g. Hepatitis-B (using - From Colostrum
against tetanus,
- Natural Killer cells rDNA technology) (IgA)
snake venom etc.
- Macrophages
iv. Cytokine barriers
- Interferon
Antibodies
(rapid 20 response) Cell-Mediated
2. Cell-mediated immunity (CMI): Immunity
T-lymphocytes mediated immunity. It helps B-cells to Humoral Immunity
produce antibodies.
- T-lymphocyte recognizes & directly attack pathogen. 2. Autoimmunity:
This system is responsible for the graft (transplanted It is an abnormal response by which body attacks self cells.
organ) rejection. Patient has to take Cause: Genetic and other unknown reason.
immunosuppressant to suppress this action. E.g. Rheumatoid arthritis.
C. ANABOLIC STEROIDS
These are drugs misused by athletes to increase muscle strength
and to promote aggressiveness.
Side effects
In females:
Masculanisation Mood swings & depression
Increased aggressiveness Excessive hair growth
Abnormal menstrual cycle Deepening of voice
Enlargement of clitoris
In males:
Acne Mood swings & depression.
Increased aggressiveness Reduced testicles
Decreased sperm Kidney & liver dysfunction
Breast enlargement Premature baldness
Enlargement of prostate gland
Temperate zone
Vertebrates
(5,000) 66.50S
(28,000) Polar zone
(10,000)
900S
The reasons for great species diversity in tropics are-
(7000) Tropics remained undisturbed for millions of years
evolution species diversification
(4000)
Plants Tropics are less seasonal provide a constant environment.
(15,000) (13,000) Tropics receive more solar energy greater productivity
greater diversity.
On a logarithmic scale, the relationship is a straight line described Causes of Biodiversity losses (‘The Evil Quartet’)
by the equation- 1. Habitat loss and fragmentation:
Log S = log C + Z log A - It is due to cutting down of trees, ploughing of grass lands, filling
where S = Species richness of wetlands, building of roads etc.
A = Area - Due to fragmentation, animals requiring large territories and
Z = slope of the line (regression coefficient) migratory animals are badly affected.
C = Y-intercept 2. Over-exploitation: Many species like Stellar’s sea cow,
For a small area, Z= 0.1 to 0.2 Passenger pigeon etc extinct due to over exploitation.
For a continent, Z= 0.6 to 1.2
Importance of Species Diversity to the Ecosystem 3. Alien species invasions: Alien species (new species entering a
A/c to David Tilman, ecosystem with more species will be more geographical area) cause decline or extinction of native species.
stable. E.g.
- The Nile Perch introduced in Lake Victoria (East Africa)
Features of a stable biological community: caused extinction of more than 200 species of cichlid fish.
i. Do not show much variation in productivity from year to year
ii. It must be resistant or resilient to occasional disturbances
(natural or man-made)
iii. It must be resistant to invasions by alien species.
BIODIVERSITY CONSERVATION
The 3 reasons for conservation-
a. Narrowly utilitarian – Arguments for conserving biodiversity for
Dodo Quagga Thylacine
direct economic benefits
- Human derive benefits from nature such as food, firewood,
fibre, construction material, industrial products and medicines.
b. Broadly utilitarian – Arguments for conserving biodiversity for
indirect benefits such as-
Produces O2 in the earth’s atmosphere.
Stellar’s sea cow Tiger Pollination through bees, bumblebees, birds and bats.
Aesthetic pleasures.
Threat of extinction-
Amphibians (32%) > Gymnosperm (31%) > Mammals (23%) > Birds (12%) c. Ethical arguments -Conserving as a moral duty
- Every species has an intrinsic value. We want to care and pass
Impacts of Loss of biodiversity it on in good order to next generation.
Decline in plant production
Lowered resistance to environmental perturbations such as
drought.
Increased variability in ecosystem processes such as plant
productivity, water use and pest and disease cycles.
Types of conservation
Endangered species are conserved in 2 types-
Conservation
Conventions on biodiversity conservation
In situ (on site) Ex situ (off site)
Conservation in their Conservation, in special settings, Year Name of
Held in Remark
convention
natural habitat. outside their habitats.
. Objectives:
E.g. Biosphere reserves, E.g. Zoological parks, a. Conservation & sustainable
National Parks, Botanical gardens The Earth
1992 Rio de Janeiro use of biodiversity
Sanctuaries, Safari parks, Summit
b. Sharing of benefits in the
Biodiversity hotspots Cryopreservation of gametes utilization of genetic resources.
sacred grooves etc. Seed banks etc. The World Johannesburg,
190 countries pledged to reduce
2002 in the current rate of
Hotspots: Summit South Africa
biodiversity loss.
These are regions with very high levels of species richness and
high degree of endemism (i.e., species confined to that region
and not found anywhere else).
- There are 34 hotspots in the world.
- Hotspots in India - Western Ghats and Sri Lanka, Indo-Burma
and Himalaya.
Origin of Earth
In the solar system of milky-way galaxy, the earth was formed
about 4.5 bya.
There was no atmosphere on early earth. Water vapour, CH4,
CO2 & NH3 released from molten mass covered the surface.
H2O → H2 + O2
NH3 + O2 → water
CH4 + O2 → CO2
Then the ozone layer was formed. As it cooled (from 5000-
60000C), the water vapour fell as rain to form oceans.
Origin of life
Non-cellular form of life originated on earth about 3 bya, and cellular form-2 bya
Theories:-
(a)Theory of Panspermia-Life has originated from spores transferred in meteorites or in spaceship to diff. planets including earth.
(b)Theory of Spontaneous generation/Abiogenesis- Life came out of lifeless matters like straw, mud, etc. in a spontaneous manner.
(c) Theory of Biogenesis-Life formed from pre-existing life (rejected since it did not answer how the first life forms).
Proved by Louis Pasteur
Experimental procedure-
Case 1. In pre-sterilised swan-necked flasks, yeast gets boiled (killed). No
microbial growth (life) seen in it after.
NB: This step disprove abiogenesis.
Case 2. In another pre-sterilised flasks, yeast gets boiled. Then
broken the stem of flask (i.e., microbes may entered from air into it).
After a few days, microbial growth seen in it.
(d)Theory of Chemical evolution (By Oparin & Haldane) -Inorganic chemicals accidentally reacted in water to form life.
Urey-Miller’s exp.- To prove Chemical evolution, simulated the primitive earth’s
atmosphere in a specially created sealed chamber.
2. Embryological evidences
Ernst Heckel proposed biogenetic law, which states that ontogeny (development of the
embryo) is recapitulation of phylogeny (development of race). This means an organism
repeats its ancestral history during the development.
E.g. The embryos of all vertebrates including human develop a row of vestigial gill slit
just behind the head but it is a functional organ only in fish and not found in any other
adult vertebrates.
However, this proposal was disapproved by Karl Ernst von Baer. He noted that
embryos never pass through the adult stages of other animals.
Origin of analogous organs is due to Convergent evolution (It is the process by which unrelated species become more
similar in order to survive and adapt in similar environmental condition).
4. Biochemical evidences
Similarities in biomolecules and metabolism among diverse organisms show they are evolved from a common ancestor.
New needs
2. Theory of natural selection-By Darwin (British Naturalist) and Alfred Wallace (Dutch Naturalist)
Darwin’s Book- The Origin of Species by Natural Selection
Influenced by the work of Thomas Malthus (British Economist- An essay on the Principle of Population). It suggests that
‘though the multiplication rate of a population is very high, the population size will be almost stable due to the limited supply
of natural resources’.
Key Concepts-
Branching descent - Present complex plants and animals have evolved from earlier simpler forms of life by gradual change.
Nature selects for fitness (who are better fit in an environment, leave more progeny than others).
The rate of appearance of new forms is linked to the life cycle or the life span.
Concept map Over production
Limited natural resources (climate, food, physical factors, etc.)
Struggle for existence
Variation
Unfavourable Favourable
Perish Survival of
the fittest (reproductive)
Natural selection
Origin of species
OH H
Nitrogen bases Ribose Deoxyribose
A nitrogenous base is linked to the pentose sugar through a
glycosidic bond to form nucleoside. Packaging of DNA Helix
When a phosphate group is linked to nucleoside through In prokaryotes
phosphoester bond, a corresponding nucleotide is formed. The prokaryotes lack defined nucleus.
Glycosidic bond Ester bond DNA (negatively charged) is held with some positively charged
proteins and form ‘nucleoid’. The DNA in nucleoid is organised in
about 50 large loops held by proteins.
Nucleoside Nucleotide
Uracil + Ribose Uridine + P Uridylic acid DNA is wrapped around a unit of 8 molecules of positively charged
histone proteins (histone octamer) to form a structure called
Many nucleotides are linked through phosphodiester bond to nucleosome. It contains 200 bp of DNA helix.
form a polynucleotide chain. Nucleosomes constitute the repeating unit called chromatin.
5’ end- free P
Chromatins include -
Euchromatin Heterochromatin
1. Loosely-packed region of 1. Densely-packed region
Phosphodiester bond chromatin
2. Lightly-stained regions 2. Darkly-stained regions
3. Transcriptionally active 3. Transcriptionally inactive
3’ end- free OH
Polynucleotide chain
Each polynucleotide chain has 2 free ends- 3’ end and 5’ end.
Salient features of double helix model of DNA:
H- bond
DNA
(i) DNA is made of 2 polynucleotide chains coiled in a right handed
fashion like a spiral staircase.
Its rail is formed of sugar & phosphates and the H-bonded base pairs
as the steps.
(ii) The 2 chains have anti-parallel polarity, i.e. one chain has the
polarity 5’→3’ and the other has 3’→5’. Chromatin is packaged to form chromatin fibers.
(iii) The bases in 2 chains are paired through H-bonds forming base Chromatin fibers that are further coiled and condensed at metaphase
pairs (bp). stage of cell division to form chromosomes.
A=T (2 H bonds) C≡G (3 H bonds). As a result, purine comes
opposite to a pyrimidine, this generates uniform distance b/w Higher level packaging of chromatin requires non-histone
the 2 strands. chromosomal (NHC) proteins.
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DNA V/s RNA
DNA RNA Observation:-
- Acts as the genetic material in The DNA that was extracted from the culture 1st generation after (20
some viruses (eg: TMV, QB min) the transfer from 15N to 14N medium had an intermediate
Acts as the genetic material in most
bacteriophage) density.
of the organisms
- Mostly functions as messenger.
DNA extracted from the culture after 2nd generation [i.e., after
- Act as enzyme (ribozyme).
40min.] was composed of equal amounts of this hybrid DNA and of
DNA was derived from RNA RNA is the first to evolve ‘light’ DNA.
DNA is a better genetic material RNA is better for the transmission Inference:-
∵ Chemically less reactive and of genetic information The newly synthesised DNA obtains one of its strands from the parent.
structurally more stable due to ∵ easily degradable due to i.e., replication is semi-conservative.
Being double stranded Being single stranded 2. Taylor and colleagues (1958) on Vicia faba (eukaryote).
Presence of thymine (5-methyl Presence of uracil (less stable Using radioactive thymidine to detect distribution of newly
Uracil). compared to thymine). synthesized DNA in the chromosomes.
Absence of 2'-OH in deoxyribose Presence of 2'-OH in ribose sugar
Only one chromatid
sugar (a reactive group) labelled
Resist mutation by repair Both sister chromatids
Mutate at a faster rate are labelled using
mechanism
radioactive thymidine
DNA is dependent on RNA for
Can directly code for the synthesis
synthesis of proteins
of proteins
DNA → RNA → Protein
Faba bean
CENTRAL DOGMA OF
MOLECULAR BIOLOGY Unlabelled
M-I
It is proposed by Francis Crick (1953). It states that the genetic chromosome
information flows from- of Vicia faba
A-I M-II
40 min.
Steps:-
(i) Grew E. coli in a medium containing heavy 15N for many
generations. Thus, 15N will be incorporated into DNA and become
heavier.
(ii) The cells were transferred into a medium with normal 14N
(iii) Took samples at various definite time intervals to extract DNA.
(iv) Then it is undergone for centrifugation in CsCl and measured to
get their densities (to distinguish heavy DNA molecule from The rate of polymerisation: 2000 bp / second
the normal DNA).
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7. 2 new strands are synthesised along the replication fork-
On one strand (the template with polarity 3' 5’), the replication
is continuous (Leading strand), while on the other (the template
with polarity 5' 3’), it is discontinuous.
The discontinuously synthesised Okazaki fragments of 100-200
nucleotides are later joined by the enzyme DNA ligase.
Transcription Unit
- It is the segment of DNA which takes part in transcription. It consists
of 3 regions:
◦ A promoter: Binding site for RNA polymerase. Located at 5’ end
(upstream) of coding strand.
◦ Structural gene: The region of template strand where transcription
takes place. It is in between promoter and terminator region.
◦ A terminator: The site where transcription stops. Located at 3’ end
(downstream) of coding strand.
Steps of transcription
In prokaryotes
Initiation: The promoter site of DNA is recognised by initiation
factor (σ) of the RNA polymerase. This causes the local unwinding
of the DNA helix. Complexity-2: RNA processing: The primary transcripts (hnRNA)
Elongation: The RNA polymerase after initiation of transcription contain both coding / expressing sequences (exons) and non-coding /
loses the σ factor. intervening sequences (introns) and hence are non-functional.
RNA polymerase synthesize RNA chain in the 5’→3’ direction Introns have to be removed. For this, it undergoes the following
by polymerising ribonucleoside triphosphates. processes:
Termination: Once the RNA polymerase reaches at the terminator Capping: Here, a nucleotide methyl guanosine triphosphate (cap)
region of DNA, a termination factor (ρ) binds to it and terminates is added to the 5’ end of hnRNA.
the transcription. Splicing: From hnRNA introns are removed (spliced) and exons are
joined together.
Tailing: 200-300 adenylate residues are added at 3’-end.
It is the fully processed hnRNA, now called mRNA which
moves to the ribosome to be translated.
Genetic Code
It is the nucleotide sequence in mRNA that specifies the amino acid
sequence of protein.
2. Initiation
Scientists involved in revealing Genetic Code
The ribosome binds at start codon (AUG) of mRNA at 5’-end.
Year Scientist Contribution The charged tRNA with anticodon UAC (initiator tRNA) pair with
Suggested that for coding 20 amino acids, the AUG of mRNA.
George
1954 code should be made up of 3 nucleotides
Gamow
(triplet codon).
Har Gobind Synthesized RNA molecules with defined
Khorana combinations of bases.
Marshall Developed cell-free system for protein
1961
Nirenberg synthesis.
Polynucleotide phosphorylase is used to
Severo 3. Elongation
polymerize RNA with defined sequences in a
Ochoa A second tRNA with an appropriate amino acid enters to the
template independent manner.
Frederick Developed method for determination of ribosome. Its anticodon binds to the 2nd codon on the mRNA
Sanger amino acid sequences in proteins A peptide bond is formed between 1st and 2nd amino acids.
The ribosome moves from codon to codon along the mRNA.
The amino acids and its codons -
Likewise amino acids are added one by one, translated into protein.
Essential Non- Essential
mRNA codons mRNA codons
Amino acids Amino acids
AGA, AGG, CGU, GCU, GCC, GCA,
Arginine Alanine
CGC, CGA, CGG GCG
Histidine CAU, CAC Asparagine AAU, AAC
Isoleucine AUU, AUC, AUA Aspartic acid GAU, GAC
CUU, CUC, CUA,
Leucine Cystenine UGU, UGC
CUG, UUA, UUG
Glutamic acid GAA, GAG
Lysine AAA, AAG
Glutamine CAA, CAG
4. Termination
GGU, GGC, GGA, At the end, a release factor binds to the stop codon like UAA, UAG
Methionine AUG (Start codon) Glycine & UGA, terminate translation and releasing the protein from the
GGG
CCU, CCC, CCA, ribosome.
Phenylalanine UUU, UUC Proline
CCG
ACU, ACC, ACA, UCU, UCC, UCA,
Threonine Serine
ACG UCG, AGU, AGC
Tryptophan UGG Tyrosine UAU, UAC
GUU, GUC, GUA,
Valine Stop codons UGA, UAA, UAG
GUG
Salient features of Genetic Code An mRNA has additional sequences that are not translated
Triplet codon: A codon is a set of 3 nucleotides (A, U, G and C) and
(untranslated regions or UTR) at both 5’-end (before start codon)
hence 64 (43) codons are there.
and 3’-end (after stop codon). They are required for efficient
61 codons code for amino acids. 3 codons (UAA, UAG & UGA) translation process.
- AUG acts as initiator codon. do not code for any amino acids.
It also codes for Methionine. They function as stop codons.
In prokaryotes:-
A set of polycistronic genes regulating a metabolic pathway is
called an Operon.
E.g. lac (lactose) operon, trp (tryptophan) operon, ara (arabinose)
operon, his (histidine) operon, val (valine) operon
Lac operon in E. coli:
Lactose
HUMAN GENOME PROJECT
Permease
Genome is the entire DNA in the haploid set of chromosome of an
organism. In Human genome, DNA is packed in 23 chromosomes.
Transacetylase
Human Genome Project (1990-2003) is the first effort in
- gal identifying the sequence of nucleotides and mapping of all the
E.coli
genes in human genome.
Lac Glu Gal Coordinated by the U.S. Department of Energy and the NIH
(National Institute of Health).
The operon controlling lactose metabolism. It was first elucidated
by Francois Jacob and Jacque Monod (1961). Goals of HGP
It consists of – (i) Identify all the 20,000-25,000 genes in human DNA.
a) 3 structural genes: The part of DNA which transcribe mRNA for (ii) Determine the sequences of the 3 billion base pairs that make up
polypeptide synthesis. human DNA
z gene: Codes for - galactosidase (lactose - gal gal + glu). (iii) Store this information in databases and its retrieval, and analysis
y gene: Codes for permease (↑ permeability of the cell (Bioinformatics).
membrane for lactose to enter). (iv) Improve tools for data analysis.
(v) Transfer related technologies to other sectors, such as industries
Note: a minimum expression of permease is always needed to (vi) Address the ethical, legal, and social issues (ELSI) that may
let lactose enter the cell. arise from the project.
a gene: Codes for a transacetylase (unknown function).
Methodologies:
b) Promoter gene (P): It is the site of attachment of RNA polymerase HGP followed 2 methods for sequencing human genome:
and initiates transcription. i.e., common promoter for z, y and a. 1. Expressed Sequence Tags (ESTs):- Only the DNA part that can
Note: first P is the promoter of inhibitor gene. be expressed as RNA (exons) are sequenced here.
c) Operator gene (O): It is the DNA segment which controls the Gene (2%)
structural gene when the repressor binds. It lies in between DNA
promoter and the structural gene. mRNA Identifying the gene
d) A regulatory or inhibitor (i) gene: Codes for the repressor
protein which usually binds with Operator. Analyse the nucleotide
e) Inducer (here, lactose): it regulates switching on and off of the sequence
operon.
2. Sequence Annotation:- Sequencing the whole set of genome
Functioning of Lac operon:- containing all the coding & non-coding sequence, and later
When lactose (inducer) is absent (usual state): assigning different regions in the sequence with functions.
Step 1. The i-gene synthesizes mRNA produces repressor protein Procedure: -
Step 2. Repressor binds to the operator region and blocks RNA i. Isolate the total DNA from a cell.
polymerase movement. ii. DNA is cut into fragments of smaller sizes by endonuclease.
Genomic
XXXXXXXXXXXXXXX
XXXXXXXXXXXXXXX
Sequencing Automated DNA sequencer
CGATTTATGCGTA
GCTAAATACGCAT Satellite DNA: These are highly-repeated short sequences in the
Aligning by computer repetitive DNA.
Satellite DNA can be classified on the basis of following:-
Assigning a. Base composition (A:T rich or G:C rich)
b. Length of segment
c. Number of repetitive units.
DNA Chromosome Types of Satellite DNA (based on number of repetitive units)
A. Micro-satellites- 5-8 bp long
Salient Features of Human Genome B. Mini-satellites- 11-60 bp long e.g.: VNTR (Variable Number
i. Human genome contains 3164.7 million nucleotide bases. of Tandem Repeats). They are inherited from the parents and
ii. The total number of genes = 30,000 are used as genetic markers.
Chromosome 1 has most genes (2968), and the Y has the fewest
(231). Functional DNA
Total (2%) Micro-Satellite
iii. Average gene consists of 3000 bases. (5-8 bp repeat)
Genomic Satellite DNA
The largest human gene is dystrophin contains 2.4 million bp.
DNA ((Repetitive DNA
The smallest is TDF (Testis Determining Factor)- 14 bp long. Junk DNA Repetitive with density Mini-Satellites
iv. 99.9 % nucleotide bases are exactly the same in all people. (98%) DNA different from (11-60 bp repeat)
0.1% makes each of us unique. bulk DNA) called VNTR
v. Functions of over 50 % of the discovered genes are unknown.
vi. Less than 2% of the genome codes for proteins.
vii. Repeated sequences make up very large portion of the human High degree of Heritable Present in
genome. Polymorphism every cell
viii. About 1.4 million locations where single-base DNA differences
(SNPs – single nucleotide polymorphism) occur in humans. Basis of DNA fingerprinting
Applications of HGP
Steps of DNA fingerprinting
Provide clues to understand human biology. (i) Isolation of DNA (from blood, hair-follicle, skin, bone, saliva,
sperm etc.)
To study the effects of DNA variations among individuals helps
(ii) Digestion of DNA by restriction endonucleases
to diagnose, treat and prevent the disorders in human beings.
(iii) Separation of DNA fragments by electrophoresis
Can learn natural capabilities of non-human organisms and can
(iv) Transferring (southern blotting) of separated DNA fragments to
be applied in health care, agriculture, energy production,
synthetic membranes, such as nitrocellulose or nylon
environmental remediation.
(v) Hybridisation using radiolabelled VNTR probe
Help in tracing human history.
(vi) Detection of hybridised DNA fragments by autoradiography.
DNA of many non-human model organisms also been sequenced. The autoradiogram gives many bands of differing sizes. These
e.g: bacteria, yeast, Caenorhabditis elegans (a free living non- bands give a characteristic pattern for an individual DNA, i.e.,
pathogenic nematode), Drosophila (fruit fly), plants (rice and DNA fingerprint.
Arabidopsis), etc.
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Criminal Suspect-A B
The Gene and Cistron
Gene: It is the DNA sequence coding for RNA molecule. It is the
functional unit of inheritance.
Cistron: A segment of DNA coding for a polypeptide.
Isolate 2 types:-
DNA Monocistronic genes Polycistronic genes
R. endonuclease Cistron codes for a mRNA Cistron codes for a long
that specifies a single mRNA that specifies more
polypeptide. than one polypeptide
Here, the exons are interrupted
Gel electrophoresis Here, there are no split genes.
by introns (split genes)
Seen in Eukaryotes Seen in prokaryotes
Alkali treatment
Gel
Hybridisation
Enzymes
hybridise
replication
1. DNA DNA
transcription
2. DNA RNA
Autoradiography X-ray film
DNA dependant RNA polymerase
reverse
transcription
3. RNA DNA
RNA dependant DNA polymerase (reverse transcriptase)
Suspect A B
Capping and tailing protects the RNA from being broken down
by enzymes in cytoplasm and also helps the RNA to attach to the
ribosome during translation.
3. Multiple allelism
- It is the inheritance in which more than 2 alleles govern the
same character.
E.g. ABO blood grouping (3 alleles: IA, IB & i).
4. Pleiotropy
- It is the inheritance in which a single gene governs multiple
phenotypes. Such a gene is called pleiotropic gene.
E.g.
a. Starch synthesis in pea seeds- It is controlled by B-gene. It has
Result:-
two alleles (B and b). It effects both size and shape.
Phenotypic ratio = 9:3:3:1
Allele ‘B’ produces enzyme with high efficiency of starch synthesis.
Dihybrid genotypic ratio = 1:2:1:2:4:2:1:2:1
Allele ‘b’ produces enzyme with lesser efficiency
3rd - Law of Independent Assortment: Genotype Phenotype of seed
“When two pairs of traits are combined in a hybrid, segregation
BB Large sized, Round shaped
of one pair of characters is independent of the other pair of
characters”. Incomplete dominance
Bb Intermediate, Round
NON-MENDELIAN INHERITANCE
bb Small, Wrinkled
These are inheritance which do not obey Mendelian laws
A/c to Mendel: b. Phenylketonuria
- Character is monogenic Mental retardation
- Genes are biallelic Phenylalanine Phenylpyruvic hair ↓
Phenylalanine Phenylketonuria acid Skin pigmentation ↓
- There is a complete dominance to any one of allele of gene block
Hydroxylase Excreted through urine
1. Incomplete Dominance Tyrosine
- It is an inheritance in which heterozygous offspring shows
intermediate character b/w two parental characteristics. Melanine Protein Dopamine
It is because dominant allele is not completely dominant over
controls
recessive allele. A/c to Mendel 1 gene 1 character / phenotype
E.g. Flower colour in dog flower (snapdragon / Antirrhinum sp.)
-
Character 1
Pleiotropy 1 gene Character 2
Character x
Gene A
Polygenic Gene B 1 character
Inheritance Gene X
5. Polygenic Inheritance
- It is the inheritance in which traits are controlled by 3 or more
genes. This type of inheritance is also influenced by environment.
E.g. Human height
Human skin colour- suppose 3 genes A, B, C control skin colour-
Result:- Genotype Phenotype
Phenotypic ratio= 1 Red: 2 Pink: 1 White AABBCC Darkest skin colour
Genotypic ratio= 1 (RR):2 (Rr):1(rr) aabbcc Lightest skin colour
2. Co-dominance AaBbCc Intermediate skin colour
- It is the inheritance in which both alleles of a gene are expressed
in a hybrid.
E.g. ABO blood grouping in human.
ABO blood groups are controlled by the gene I and it has 3
alleles- IA, IB and i.
IA- Determine the formation of sugar ‘A’ on RBC
IB- Determine the formation of sugar ‘B’
i – Does not form any sugar
possibility of
Tightly linked eye w cross over w+ Egg Sperm
genes body y y+
MUTATION
w w+ w w+ It is a phenomenon which results in alteration of DNA sequences
y y+ y+ y
resulting in changes in the genotype and the phenotype of an
Yellow-bodied, white-eyed + Yellow-bodied, red-eyed + organism.
Brown-bodied, red-eyed Brown-bodied, white-eyed The factors which induce mutation are referred to as Mutagens.
Parental trait ↑ (98.7%) Recombinant trait ↓ (1.3%) e.g.: UV radiations
Cross-B Mutations are of 2 types-
White-eyed, miniature-winged female x Red-eyed, large-winged male o Point mutation: Mutation due to change in a single base-
pair of DNA. E.g. Sickle cell anemia.
wing m possibility of m+ o Frame-shift mutation: Deletions and insertions of base
Loosely linked cross over pairs of DNA
genes M M
eye w w+ A A A A A A M M A A N N
B B B B B B N N B B O O
Mutagen C C C C Mutagen C C O O C C P P
D D X X D D P P D D Q Q
m m+ m m+ E E E E E E Q Q H H R R
F F F F F F R R
Deletion S S
G G G G G G S S G G
H H H H H H T T
Insertion
w w+ w+ w F F
E E
Point Mutation Frame-shift Mutation T T
White-eyed, miniature-winged + White-eyed, large-winged +
Red-eyed, large-winged Red-eyed, miniature-winged
Parental trait ↓ (62.8%) Recombinant trait ↑ (37.2 %)
Biology Instant Notes, for www.hsslive.in , by: M. M. Muhiyudeen, #- 9846 29 22 27
50
PEDIGREE ANALYSIS 2. Autosomal recessive (e.g: Sickle cell anemia):
A pedigree is a diagram of family relationships that use
symbols to represent people and line to represent genetic
relationships.
It is analysis of inheritance of a particular trait through several
generations in a family (pedigree).
Symbols used in the pedigree analysis:-
Equally seen in male and female
Skip generation (since appears only when homozygous)
Mother and father both are unaffected but still child could be
affected.
3. Sex-linked recessive
Male are affected more than female
Heterozygous mother (carrier) transmits the disease to sons.
The possibility of a daughter becoming an affected is very
rare because mother has to be at least carrier and father
should be affected.
Count of affected male & female
Pedigrees are often used to determine the mode of
inheritance (dominant, recessive etc.) of genetic diseases. Autosomal X-linked
Male ≈ female Male >>> Female
RULES
1. Autosomal dominant (e.g: Myotonic dystrophy): Genetic Disorders
2 types: Mendelian disorders and Chromosomal disorders.
Human Genetic disorders
Autosomal Sex-linked
(X-linked) (i) Down’s syndrome
Equally seen in male and female. Dominant Dominant (ii) Klinefelter’s syndrome
Never skip generation, every generation any one child should (i) Myotonic dystrophy (iii) Turner’s syndrome
be affected
Affected child must have one of parent affected Recessive Recessive
Mother and father both are affected, but still child could be (i) Sickle-cell anaemia (i) Haemophilia
(ii) Cystic fibrosis (ii) Colour blindness
unaffected. (iii) Phenylketonuria
(iv) Thalassemia
1. Mendelian Disorders
Caused by alteration or mutation in the single gene.
Mendelian
Symptoms Cause
Disorder
A simple cut results in
Haemophilia A protein (Clotting factor VIII or IX) involved in the blood clotting is affected.
non-stop bleeding.
Turner’s syndrome 44 A + XO
Sterile female (poorly developed ovaries & sex glands)
(Described by Henri (missing of one X
Turner in 1938)
Short statured
chromosome in female)
Coitus
interruptus
(Withdrawal)
Condoms It is a non steroidal ‘once a week’ pill for female with few
(Eg: Nirodh) side effects and high contraceptive value.
INFERTILITY
Infertility: It is the inability of male or female to produce
children even after 2 years of unprotected sexual co-habitation.
The reasons for infertility may be physical, congenital diseases,
drugs, immunological or psychological.
BIOLOGY Instant Notes-for www.hsslive.in , by: M. M. Muhiyudeen, #- 9846 29 22 27 41
ZLGY-MM: XII 2. HUMAN REPRODUCTION
Humans are sexually reproducing and viviparous.
Reproductive Events In Human
In Male In Female
Testes Ovary
(Gametogenesis) Testicular lobules
Sperm Ovum
Seminiferous tubules
(Insemination)
(Fertilisation)
Zygote
Blastocyst (Implantation)
Accessory Glands
(Embryogenesis) Accessory glands
Embryo
(Gestation) Seminal vesicles Prostate Bulbourethral glands
Foetus (paired) (single) (paired)
(Parturition- Delivery of baby) Secrete fructose Secrete Ca2+ & Secretion lubricates penis
enzymes
THE MALE REPRODUCTIVE SYSTEM
Secretions = Seminal plasma
It consists of paired testes, accessory ducts, glands and the
external genitalia. Sperm (10%) + seminal plasma = Semen
Testes (10 sex organ- where production of gametes takes place &
hormone production occurs) The enlarged end of penis called the glans penis is covered by a
Situated in scrotum (helps in maintaining low temperature) loose fold of skin called foreskin.
Oval in shape, length: 4-5 cm, width: 2-3 cm.
Each testis is subdivided into 250 testicular lobules
THE FEMALE REPRODUCTIVE SYSTEM
It consists a pair of Ovaries, Accessory ducts (constitute oviducts,
Each lobule contains 1-3 highly coiled seminiferous tubules.
uterus & vagina) and the external genitalia.
Each seminiferous tubule is lined by-
Meiosis
Spermatogonia (male germ cells) Sperm
Sertoli cells - Provide nutrition to the germ cells.
The regions outside the seminiferous tubules (interstitial
spaces), contain -
o Small blood vessels
o Interstitial cells or Leydig cells (secrete androgens)
o Lymphoid cells (immunologically competent cells)- defend
infection and progression of malignant cells
Sperm
Accessory ducts
Pathway of transport of sperms is as follows:-
Seminiferous tubules →Rete testis →Vasa efferentia
→Epididymis→Vas deferens →Ejaculatory duct →Urethra Almond shaped; Length: 2- 4 cm. Covered by epithelium.
PREGNANCY &
EMBRYONIC DEVELOPMENT
Chorionic villi: Finger-like projections of trophoblast which is Mammary glands differentiate during pregnancy and secrete
surrounded by the uterine tissue and maternal blood. milk after child-birth.
↓ o Colostrum: Yellow milk produced during the initial few
Chorionic villi + uterine tissue = Placenta days of lactation which is rich in IgA antibody (develop
resistance).
Biology Instant Notes, for Hsslive.in , by: M. M. Muhiyudeen, #- 9846 29 22 27
Biology Instant Notes, for Hsslive.in , by: M. M. Muhiyudeen, #- 9846 29 22 27