principles of inheritance and variations presentation part- i
TRANSCRIPT
PRINCIPLES OF
INHERITANCE
AND
VARIATION
GENETICS
Branch of science that deals with the study of heredity
and variations
Greek word Genesis –To grow
The term genetics was coined by Bateson(1906)
HEREDITY
The transmission of characters from one generation to the other or from the parents to the offsprings
VARIATIONS
The differences between the parents and the offsprings
Offsprings of the same parents
or
Individuals of the same species
FATHER OF GENETICS
Gregor Johann Mendel an Austrian Monk
Born on July 22, 1822
Conducted several hybridization experiments on Garden Pea (Pisum sativum)
Cultivated and tested approx. 28,000 pea plants
for 7 years (1856-1863) and
gave his laws governing inheritance of traits
MENDELIAN GENETICS
Mendelian genetics (or Mendelian inheritance or Mendelism)
is a theory of genetic inheritance which was developed by
Gregor Mendel.
QUESTIONS
Q1. What is genetics?
Q2. What is heredity?
Q3. What are variations?
Q5. Who coined the term genetics?
Q6. Who is the called the Father of Genetics?
Q7. Which material Mendel selected for his experiments?
Q8. What is the botanical name for garden pea?
Q9. For how many years Mendel conducted his experiments?
MENDEL’S WORK NOT RECOGNIZED
Mendel’s work was not widely published
Crude microscopes were there
Mendel’s approach for using Mathematics to
explain biological phenomenon was totally new and unacceptable to many biologists of his time
Although Mendel’s work suggested that factors were
discrete units
He couldn't present any physical evidence for the existence of factors or what they were made of
Also biologists of his time did not accept the factors
( now called genes) as discrete units
In 1865 Mendel delivered two lectures on his findings
to the Natural Science Society in Brno (Czech Republic)
They published the results of his studies in
their journal the following year under the title
“Experiments on plant Hybrids”
Mendel did little to promote his work
A few references from that time period
indicated that much of it had been misunderstood, furthermore Mendel’s findings were not viewed as being applicable even by Mendel himself
Who guessed that they only applied to certain species or certain types of traits
QUESTIONS
Q1. Why Mendel’s work remained unrecognized?
Q2. Who first published Mendel’s work?
Q3. Name the title under which Mendels results were published?’
Q4.When and where Mendel delivered lectures about his work?
Q5.What are factors?
RECOGNITION OF MENDELS WORK
Mendel’s work was not recognised until the turn of
20th century , Mendel died in1884
16 years after Mendel’s death in 1900 with independent rediscovery of Mendel’s laws
Three scientists Hugo de Vries , Carl Correns and
Erich Von Tshermak rediscovered Mendel’s work
They independently duplicated his experiments
and Mendel’s work got recognition
By this time due to advancement in microscopy scientists were able to study cell division
This led to the discovery of nuclear structures that
appeared to double and divide just before cell division
These were called chromosomes
In 1902 Walter Sutton and Theodore Boveri noted that the
behavior of chromosomes was parallel to that of genes and used the chromosome movement to explain Mendel’s Laws
Sutton and Boveri argued that pairing and separation of chromosomes would lead to the segregation.
Sutton united the concept of segregation with Mendelian
Principles and called it the Chromosomal Theory of Inheritance
As a result a fundamental unifying theory of genetics proposed by Thomas Hunt Morgan came forward in 1915
unearthing the cause for Variations produced as a result of sexual reproduction
Those principles became the core of classical genetics
REASON FOR SUCCESS
Mathematical logic and statistical analysis
were methodically applied to problems in
biology for the first time in Mendel’s investigations
His experiments had a large sampling size
so the data collected by him was
reliable and had a greater credibility
Confirmation of his supposition from experiments with successive generations of his test plants
Proved that his results pointed to relatively common rules of inheritance than unconfirmed ideas
None of the characters demonstrate Linkage
QUESTIONS
Q1.How Mendel’s work got recognition?
Q2.Name the scientists who rediscovered Mendel’s work?
Q3.How many years after Mendel’s death did his work got recognition?
Q4.What were the reasons for recognition of Mendel’s work?
WHY MENDEL SELECTED GARDEN PEA
1. Small annual herbaceous plant2. Completes its life cycle in 3-4 months3. Produces many seeds4. Self pollinating(True breeds could be obtained)5. Can be cross pollinated 6. Has many contrasting characters7. Reproduces sexually producing two distinct male
and female gametes8. Traits are easy to isolate9. Easy growing plant10. Seeds do not show dormancy
REPRODUCTION IN FLOWERING PLANTS
Pollens contain sperms or male sex cells that are produced in stamen
Ovary contains the egg or ovule (female reproductive cell) produced in the pistil
SELF FERTILIZATION- Cross or fusion of male and female gametes (sex cells) produced by the same individual.
It occurs in bisexual organisms, including most flowering plants
CROSS FERTILIZATION- also called Allogamy, the fusion of male and female gametes (sex cells) from different individuals of the same species.
It occur in dioecious plants (those having male and female
organs on separate individuals)
QUESTIONS
Q1. What experiments did Mendel conduct?
Q2. What is garden pea?
Q3.Why Mendel selected garden pea for his experiments?
Q4. What is Self pollination?
Q5. What is cross pollination?
TERMINOLOGY
TRAITS- Characteristics that pass from parents to offsprings
FERTILIZATION- Uniting of male and female gametes to produce zygote
CROSS- Combining male and female or
parents with different traits
ALLELES- Different forms of the same gene
Each organism has two alleles for each trait as TT tallness and tt for dwarfness
GENES- The hereditary units situated on the chromosomes control the development of organism
DOMINANT TRAIT- The trait that shows itself very often in the offspring
Represented by a capital letter as T for tallnessRECESSIVE TRAIT- Traits that remain hidden or disappear
in the offspring Represented by a small letter as t for dwarfnessGENOTYPE- It is the genetic makeup of an organism
example-TT , Tt or ttPHENOTYPE- It is the visible expression or the way an
organism looks example-color of the eye, color of hair
HETEROZYGOUS- A gene combination with one dominant and one recessive trait
Example- Tt ( the two alleles for a trait are different)
HOMOZYGOUS- A gene combination with two dominant and two recessive traits
Example-TT or tt ( the two alleles for a trait are same)
MONOHYBRID CROSS- Crossing parents with one pair of contrasting characters (true breeding plants)
Example- TT and tt where T and t are the contrasting traits for the height of the plant
DIHYBRID CROSS- Crossing parents with two pairs of contrasting characters (cross breeding plants)
Example-TTPP and ttpp where T and t are contrasting features for the height of the plant P and p are the contrasting traits for the color of the flower
QUESTIONS
Q1. Define the following terms:
Fertilization ,traits, alleles, genes
Q2. What is dominant and recessive trait ?
Give examples.
Q4 Explain the terms Genotype and Phenotype giving examples.
Q5. Differentiate between homozygous and heterozygous with examples.
PUNNETT SQUARE
Developed by a British geneticist Reginald Punnett in 1875
It is a graphical representation of calculating the probability of all possible genotypes of offsprings in a genetic cross
It is used to help solve genetic problems
MENDEL’S EXPERIMENTAL METHODS
Mendel hand pollinated flowers
Snip stamens to prevent self pollination
Covered each flower with a bag
Traced the traits through several generations
HOW MENDEL BEGAN
Mendel produced pure strains which were similar but had contrasting characters, by allowing the plants to self pollinate for several generations
Mendel identified seven traits
TRAIT DOMINANT RECESSIVE
Seed shape Round Wrinkled
Seed color Yellow Green
Pod shape Full Constricted
Pod color Green Yellow
Flower color Violet White
Flower position Axial Terminal
Stem height Tall Dwarf
TRAITS IDENTIFIED BY MENDEL
DIAGRAM SHOWING CONTRASTING TRAITS IN PEA PLANT
MENDEL’S LAWS OF INHERITANCE
LAW OF DOMINANCE
Characters are controlled by discrete units called factors
Factors occur in pairs
In a dissimilar pair of factors one member
dominates (dominant) the other (recessive)
unless both factors in the pair are recessive
F1 GENERATION- If we cross homozygous tall & homozygous dwarf
Traits- Tall (dominant) Dwarf (recessive)
Cross - T T X t t
/ \ / \
Gametes- t
F1 Generation Ratio - Genotype- Tt 4 : 0 (heterozygous tall)
Phenotype- tall 4 : 0 (tall)
T T t t
T T
t Tt Tt
t Tt Tt
F2 GENERATION - If we cross two heterozygous tall plants
Traits Tall (heterozygous) Tall (heterozygous)
Cross T t X T t
Gametes / \ / \
F2 Generation ratio - Genotype : 1 : 2 : 1tall tall dwarf
(homozygous) (heterozygous) (homozygous)
Phenotype: 3 : 1
(Tall ) ( Dwarf)
T t
T TT Tt
t Tt tt
T t T t
EXPLANATION TO THE LAW OF DOMINANCE
The law of dominance is used to explain
the expression of only parental characters in the F1 generation
And the expression of both (parents and offsprings of F1) in F2 generation
It also explains the proportion 3:1 obtained at F2 generation
LAW OF SEGREGATION
1. This law states that during gamete (Egg or Sperm) formation the two alleles of a gene get separated
2. Alleles for a trait then recombine at fertilization producing genotype for the traits of the offspring
example- A Monohybrid cross
Application of Law of Segregation
For a homozygous parent - The two gametes will be similar (pure alleles) T T and t t
/ \ / \
(pure alleles) T T t t
For heterozygous parent - Tt will have one dominant allele T and one recessive allele t
T and t
/ \
T t
(dominant) (recessive)
These gametes are pure for that particular allele
Therefore law of segregation is also called law of purity of gametes
APPLICATION OF THE LAW OF SEGREGATION
For heterozygous parent
Tall -T & Dwarf - t Female gametes( 1 : 1 )
Male gametes
( 1 : 1 )
A monohybrid cross
Phenotype ratio- 3: 1
T t
T TT Tt
t Tt tt
L AW OF INDEPENDENT ASSORTMENT
This law states that when two pairs of traits are combined
in a hybrid, segregation of one pair of characters is independent of the other pair
Example- A Dihybrid cross – Tracks the inheritance of two traits or genes
Pure tall with purple flowers (TTPP)
and dwarf with white flowers (ttpp)
Parental generation P1(dominant) (recessive)
Traits tall & purple Dwarf & whiteCross T T P P X t t p p
/ \Gametes
X 4 X 4
TP TP TP TP tp tp tp tpFormula - 2n (where n is no of heterozygote's )
Q How many gametes will be produced for following allele arrangement?
a.) RrYy b) Aa Bb Cc Dd
TP tp
QUESTIONS
Q1.What are the three laws of Mendel ?
Q2. State Mendel’s Law of Dominance.
Q3. What is the phenotype and genotype ratio of F1 generation according to Mendel’s first Law?
Q4. Explain Mendel’s Law of Segregation?
Q5. Which law is called the Law of purity of gametes?
Q6. Which Law explains the segregation of characters? Explain with an example.
GENERATIONS IN A CROSS
Parental or P1 generation- represents the parents
F1 Generation- Ist filial generation of offsprings or progeny
F2 Generation- IInd Filial generation of the offsprings
TYPES OF CROSSESMONOHYBRID CROSS
A cross between one pair of contrasting characters
MONO HYBRID CROSS (parents or pure lines)
P1 generation Trait: Height of the stem
Alleles: T Tall & t Dwarf
Cross: Tall plants X Dwarf plants (pure)
Traits TALL DWARF
Cross T T X t t
/ \ / \
Gametes T T t t
Pure Female gametes
P1 Cross
Pure
Male gametes
F1 generationGenotype - Tt Ratio - 4 : 0Phenotype - Tall Ratio - 4 : 0
(All alike)
T T
t Tt Tt
t Tt Tt
REVIEW OF P1 CROSS
Parents
homozygous dominant X homozygous recessive
\ /
F1 Gen offsprings
Genotype heterozygous
Phenotype (all alike )F1 generation
Genotype - Tt Ratio - 4 : 0
Phenotype - Tall Ratio - 4 : 0
(All alike)
F1 MONOHYBRID CROSSTrait- Seed shapeAlleles- R (Round) r (wrinkled) HeterozygousCross- Round & wrinkled seeds X Round & wrinkled seeds
R r R r/ \ / \
Gametes
F2 GENERATION
Genotype Ratio- 1 : 2 : 1 RR Rr rr
Phenotype Ratio- 3 : 1 ( Round seeds) (Wrinkled seeds)
R r R r
R r
R Rr Rr
r Rr rr
REVIEW OF F1 CROSSHeterozygous X Heterozygous
\ /
F2 Gen Offsprings
Homozygous Heterozygous Homozygous
Genotype (dominant) (recessive)
RR Rr rr
25% 50 % 25%
Genotype Ratio - 1 : 2 : 1
Phenotype Ratio - 3 : 1
RESULTS OF MONOHYBRID CROSS
Inheritable factors or genes are responsible for the transfer of all heritable characters
Phenotype is based on genotype
Each trait is based on two genes (one from mother & one from father)
True breeding individuals are homozygous
QUESTIONS
Q1. What is a true breeding pea line?
Q2. State one difference between a pure breed and hybrid?
Q3. What is a monohybrid cross?
Q4. What is P1 generation?
Q5. What is the genotype and phenotype ratio in an F1 generation of monohybrid cross?
Q6. Explain the results of a monohybrid cross?
DIHYBRID CROSS
Inheritance of two genes taking two characters into account
Traits : Pure tall & purple flowers TTPP (dominant)
Pure dwarf & white flowers ttpp (recessive)
P1Generation TTPP ttpp
/ \
Gametes : TP TP TP TP tp tp tp tp
TP tp
F1 DIHYBRID CROSS
F1 Generation
Genotype ratio 16 : 0
( Heterozygous) tall & purple
Phenotype ratio 16 : 0
All tall & Purple flowers
TP TP TP TP
tp TtPp TtPp TtPp TtPp
tp TtPp TtPp TtPp TtPp
tp TtPp TtPp TtPp TtPp
tp TtPp TtPp TtPp TtPp
F2 DIHYBRID CROSS
P1 generation
Traits : (Heterozygous tall and purple flowers)
Cross : TtPp x4 X TtPp x 4
Gametes : TP Tp tP tp TP Tp tP tp
Where n = 2
2n = 2³
=8
F2 DIHYBRID CROSS
F2 GenerationGenotype ratio-
1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1
TTPP TTPp TTpp TtPP TtPp ttPp ttPP TtPp ttppPhenotype ratio 9 : 3 : 3 : 1
Tall purple Tall white Dwarf purple Dwarf white
TP Tp tP tp
TP TTPP TTPp TtPP TtPp
Tp TTPp TTpp TtPp Ttpp
tP TtPP TtPp ttPP ttPp
tp TtPp Ttpp ttPp ttpp
TRIHYBRID CROSSA cross between two individuals that are heterozygous
for three different traits
TRAITS : tall purple axial flowers (TTPPAA)dwarf white terminal flowers (ttppaa)
CROSS : TTPPAA X ttppaaGAMETES : TPA X 8 tpa X 8
where n= 3 2n= 2³
= 8
PUNNET SQUARE FOR F1 TRIHYBRID CROSSTPA TPA TPA TPA TPA TP A TPA
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa
TtPpAa
TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
tpa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa TtPpAa
TPA
TtPpAa
TtPpAa
TtPpAa
TtPpAa
TtPpAa
TtPpAa
TtPpAa
TtPpAa
F1 TRIHYBRID CROSS RATIOS
GENOTYPE RATIO - 64 : 0
PHENOTYPE RATIO - 64 : 0
F1 generation –All 64 offsprings are going to be of the same type (Tall Purple and Axial)
(heterozygous)
F2 TRIHYBRID CROSS
Cross members of F1generation to get F2 generation
TRAITS : Tall Purple Axial (heterozygous)
CROSS : TtPpAa X TtPpAa
GAMETES : TPA , TpA , Tpa , tpa, Tpa, tPA, tpA , tPa
where n=3
2n = (2)³
= 8
F2 TRIHYBRID CROSS
TPA TpA Tpa TPa tpa tPA tpA tPa
TPA TTPPA
A1
TTPpA
A1
TTPpA
a1
TTPPA
a1
TtPpAa
1
TtPPAA
1
TtPpAA
1
TtPPAa
1
TpA TTPpA
A1
TTppA
A2
TTppA
a2
TTPpA
a1
TtppAa
2
TtPpAA
1
TtppAA
2
TtPpAa
1
Tpa TTPpA
a1
TTppA
a2
TTppaa
3
TTPpa
a4
Ttppaa
3
TtPpAa
1
TtppAa
2
TtPpaa
4
TPa TTPPA
a1
TTPpA
a1
TTPpa
a4
TTPPa
a4
TtPpaa
4
TtPPAa
1
TtPpAa
1
TtPPaa
4
tpa TtPpAa
1
TtppAa
2
Ttppaa
3
TtPpaa
4
ttppaa
5
ttPpAa
6
ttppAa7 ttPpaa
8
tPA TtPPAA
1
TtPpAA
1
TtPpAa
1
TtPPAa
1
ttPpAA
6
ttPPAA
6
ttPpAA
6
ttPPAa
6
tpA TtPpAA
1
TtppAA
2
TtppAa
2
TtPpAa
1
ttppAa
7
ttPpAA
6
ttppAA
7
ttPpAa
6
tPa TtPPAa
1
TtPpAa
1
TtPpaa
4
TtPPaa
4
ttPpaa
8
ttPPAa
6
ttPpAa
6
ttPPaa
8
TRIHYBRID CROSS
Phenotype ratio :
Tall purple axial- 27 (1)
dwarf purple axial- 9 ( 6)
tall purple terminal- 9 ( 4)
tall white axial- 9 ( 2)
tall white terminal- 3 ( 3)
dwarf white axial- 3 ( 7)
dwarf purple terminal - 3 ( 8)
dwarf white terminal- 1 ( 5)
* ( Numbers in the brackets represent the numbers in Punnet square for F2 trihybrid cross)
QUESTIONS
Q1. What is a dihybrid cross?
Q2. What is the genotype and phenotype ratio in F1 dihybrid cross?
Q3. What is a genotype and phenotype ratio in an F2 dihybrid cross?
Q4. What is a trihybrid cross?
Q5. What is the genotype and phenotype ratio in a trihybrid cross?
THANK YOU
PREPARED BY
RITU SHARMA